Personal stories shared by patients and parents. Most of these were originally submitted to the eGroups discussion website
Michael Atkinson
Hello all,
I wanted to write sooner to tell you about my son Michael, but this week has been crazy! I would love to explain my whole story but I don't have enough time right now, so I will fill you in on the exciting part! I will be at the NIH on Monday September 26, 05 to join in protocol # 03-AR0298. My biggest fear now is that I am expecting too much and maybe I am setting myself up for more heartbreak, I guess when it comes down to it all we can is pray for our children, and fight to get them the best care. Below is a list of some of what Michael has, and continues to suffer. (I will create a detailed story to post on Kates site once I return and the web site is back up)
- headache and vomiting daily
- red rash covering his whole body
- transient synovitis in hips
- chronic diareah
- multiple allergies food and environmental
- swollen joints (knees, ankles and wrists are worse)
- mild developmental delay
- large head
- large open fontanel
- flare ups involving bizare loss of balance
- big forehead
- chronic anemia
- high white cells, low platelets
- increased inflammatory markers
- dony displaysia in neck, delayed bone growth
- irritated bloodshot eyes
The series of events that led me to this comes with alot of anger toward the medical profession in Canada, and the system in Canada as a whole, but also so much gratitude to the people who have always cared and offered so much support. I only wish the road could have been easier, and I could have found this sooner. I feel sad that I have had to fight so hard and been so insulted for so long. Based on my experiences it seems as though many doctors need to step out of their roles long enough to ask "what would I do for my child".
So, I promise to write on my return from NIH. Will anyone bee there next week? (September 26 through the 30th). Bye for now and I continue to pray for our angles!
Love Karen
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Alex Barton
Alex started a clinical trial of the Anakinra medicine at the NIH hospital in Washington DC Sept 2003. Parent's notes about the progress of this clincal trial on Alex here.
Aug 2000. I just finished putting other peoples stories onto this website and I couldn’t find one of our own. Kate is taking a rare break away from the children, I’m on vacation, so here is Dad's version of Alex's story.Alex was born in Texas Womens Hospital in Houston, 27 Mar 1996. Kate doesn't remember anything exceptional about the pregnancy, nothing environmentally unusual. We noticed there was something wrong within a few hours after birth. When I saw him in the newborn recovery unit, his skin was very red and blistered. He really stood out against the other newborns. His pediatrician didn't know what was wrong and called the dermatologist who informed us he had mastocytosis -- over activity of the mast cells.
We lived with the mastocytosis diagnosis for almost a year until Kate noticed that Alex wasn’t bearing weight on one of his knees. He was admitted to Texas Children’s Hospital where they suspected a bone infection. He stayed in for several days as the Infectious Diseases folk tried to determine what kind of infectious disease he really had (‘are you sure you haven’t brought any unpasteurized cheese into the country? Perhaps from Mexico?’). They were not used to being outwitted like this and took aggressive action by opening up his knee to see what was there. More misdirected leads (‘this may be cancer, you know’, etc.). Eventually we were sent home with his problems unresolved.
A few weeks later we were called in to see Rheumatology, one of the few departments we hadn’t been referred to originally. The head of department, Dr Robert Warren (our hero), quizzed us about Alex, prodded and poked him and went back to pour through his medical notes. Then a short time after, he called us to announce his diagnosis of Nomid (or Cinca). Naturally we were devastated, especially when we realized the implications and read around the case histories of other children. This was just after Alex’s first birthday.
Dr Warren started Alex on steroids and we noticed an immediate improvement. He crawled around a lot more, commando style still, rather than on his knees. Eventually he started crawling up stairs (Independence Day, age 15 months ) and eventually walking (Groundhog Day, just before his second birthday). His appetite has always been great. Until recently, he has eaten just about anything. He is still short for his age and stocky in build. He has the classic angel-type looks of blonde hair, much less curly than it used to be, and a button nose. But he is an angel in temperament as well, pacing himself carefully so he doesn’t knock his sensitive knees, and very caring to his toy duck and parents.
At the moment, age 4 ˝, he is developing well mentally, attending school twice a week. He is always busy and is into office equipment at the moment – paper clips, staples, bulldog clips and the like.
He takes IV steroids once a week from his home nurse. We are trying to reduce the amount of steroids in the hope of alleviating some of the intercranial pressure. He is tolerating it well so far. We got rid of his portacath a few weeks ago. He never did tolerate catheters well, rejecting them many times (he even pulled one central line out himself in hospital when he was small). There is some speculation that the clotting in his heart, IVC, SVC, liver may have been prompted by the invasive surgery and fiddling with his veins and stuff.
Apart from the IV steroids, he takes Gastrochrom and Zantac (both 3cc twice a day), more because we are afraid to stop them than anything else. Also Enbrel (0.4ml twice a week), Heparin (0.2cc twice a day), Diamox (250mg twice a day), Claritin (5cc twice a day) and Ferinsol (1.2cc once a day). Update: We tried Colchicine for a few months but it didn't seem to make much difference. Optic nerve fenestration surgery on his eyes went well. We increased his IV steroids several months ago and have noticed a significant improvement in behaviour, mobility and hearing. Consequently, we took him off Methotrexate, but since he has regressed a bit (moodier, stiffer) we will probably re-introduce it again. 2004 update: with Alex on Anakinra, he now takes only oral steroids only (not IV), Heparin, asprin, and Diamox. Over the months we've completely stopped the Gastrochrom, Zantac, Enbrel, Claritin/Clarinex, Ferinsol, Methotrexate. Go Alex!
So, that is Alex’s story to date. Kate would tell a very different version than this, I’m sure, but there is so much that he (and we) have been through in his 4 ˝ years there must be a thousand different ways of recalling it all.
John
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Sebástian Jesús Burgo
( initial translation from Monica Arguello's email in Spanish by John. (en espańol):
I hope this letter finds you and your family well. I'm writing to send you more information about Sebas.
Name: Sebástian Jesús Burgo. Date of birth 14 Jan 1994, in the town of Ushuaia. Born by Cesarian due to a severe retinopatia of the mother. He weighed 3.48 kg at birth. At birth he developed a rash on his upper and lower body which was diagnosed as a dermatalogical disease, then later dismissed and rediagnosed as neonatal rubéola. After a year and innumerable tests they diagnosed NOMID at the high complexity hospital Juan Garraham in Buenos Aires.
In the beginning, the rheumatology and immunology departments of the Garraham hostpital prescribed Naproxen which wasn't very successful because his high fevers continued and rheumatic pains got worse, especially in his knees. He began to lose weight quickly. Because of inflammation in his knees they then prescribed the anti-inflammatory Indometicina and Baclofreno. After four years this was suspended because it was damaging his kidneys.
Current state of health: apart from having Nomid, Sebas is anaemic. Detailed medical information --
Ophthamological: ?perforated ulcer in the left cornea. Short-sighted in right eye, ?leciones slowly recovering.
Nutritional: Chronic, severe malnutrition with prolonged periods of diarrhea, abdominal distension...(?) .Nasal-gastric line placed due to a lack of potasium, magnesium, iron, folic acid, sodium, etc. All this made worse by (?celiaquia)
Rheumatology: They started by prescribing Enbrel twice a week at 0.25mg.
At the moment, Sebastián is getting better, having regained weight and (?without) the naso-gastric tube he had to travel to a new hospital in Buenos Aires on the 26th of this month [Feb]. Sebastián finished his pre-school at a normal nursery school given that he has no neurological problems. He gets around in a wheel chair, which is hard work.
The family consists of two siblings, Lucia (10) and Pablo (16), his mother Christina (35) and two dogs. Their address is ......
If there is any information I've left out, get in touch and I'll let you know. With that, I'll say goodbye. Very best wishes from my cousin Christina,
Mónica Elisa Arguello
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Jillian Bush
My daughter's name is Jillian Bush. She is 13 years old. We live in a small community, approximately 30 miles east of Cleveland. Jillian's medical history is so much like the histories of the other children whose parents participate in your group:
She was premature (32 weeks) and required immediate repair of a duodenal atresia. She was born with an odd rash that went unidentified.
Her first two years were marked by episodes of 'falling asleep' while sitting up and intermittent rashes that began as red bumps and progressed to purple then brown patches. In her third year she began having seizures.
By the start of first grade she developed a severe enough hearing loss that she required hearing aids. Morning headaches and vomiting began and the race to discover why her intra-cranial pressure was off the charts. As so many of these children have experienced, she had repeat spinal taps, was put on different medications, etc. She was hospitalized for suspected meningitis, etc. She developed many blind spots and we feared she'd lose her sight.
At the age of eight she was diagnosed as having neurosarcoidosis and was placed on prednisone. Needless to say, she started looking and feeling better but we didn't understand that the steroids simply covered things up without fixing anything.
I should mention that throughout this period, Jillian led a pretty normal life - she's very coordinated and competes at a high level in soccer and basketball. What we didn't put together right away but now know to be the case is that her activities would cause 'crashes' where she couldn't get out of bed for a day or two at a time.
Between age eight and twelve we put up with treating all the symptoms
separately, etc. but I was growing more agitated. Our doctor at the Cleveland Clinic
left without notice and in the middle of a particularly bad flare-up I had to go to
Rainbow Babies and Children's. Now, we'd been treated there years before and gotten
nowhere so I didn't expect much. One of the rheumatologists there started following
us - not really changing anything or making much progress. Then in late 2003, she
attended a conference and heard Dr. Kastner speak.
She came back and said that she was sure Jillian had NOMID. Well, after months of
trying to get the doctor to fill out paperwork and trying to coordinate things with Janet
at NIH we submitted Jillian's blood only to find out in April of 2004 that she didn't have
the 'right' genetic mutation to be put into the study.
Things were status quo until last August when she had a complete melt-down. I could no longer go on like this. Our doctor was saying that she knew anakinra would help but she couldn't risk prescribing it. So, I went onto the internet and began to e-mail leading rheumatologists around the country. And, thus Dr. Terri Finkel at Children's Hospital of Philadelphia entered our life. One appointment later and we were on our way. Jillian has been on Kineret for almost one year now and we can't believe our eyes. It has truly been a miracle drug for her. She has even shown improvement in her hearing. She is finally growing - 5 inches in one year and we no longer have to worry about growth hormones or a lot of other things for that matter!
Well, that's our story. Maybe some part of it will help someone else...
Thanks for maintaining this website and chat group.
Cathy Bush
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Molly Campbell
Dear NOMID Subscribers,
My wife Evie and I have a three-year old daughter Molly who has been diagnosed as having the CINCA/NOMID Syndrome, but in some respects only, and those mildly compared to most other patients.
Kate and John Barton have very kindly agreed to put Molly's story on the web, adding to the moving photographs and stories already there. We wonder particularly whether on seeing her story, others like hers will emerge; we would obviously like to know how children with a history like hers progress as they grow older.
With every good wish to the patients and their careers,
Yours sincerely,
David Campbell
Molly Ann CAMPBELL
D.o.b. 4.02.1999
HEALTH RECORD
An
informal record kept by Molly's parents Evie and David Campbell UK
1. Molly was born at full term without problems.
2. For up to two years following the birth her mother Evie Campbell experienced symptoms such as fatigue, weakness in the arms and legs, and stiff joints. The GP pronounced 'post-viral muscle fatigue'.
3. At birth there was an oval pink 'blotch' about half an inch long just above Molly's jawline, to the left of her chin. From birth such blotches spread to her face, arms, buttocks and legs, presenting much of the time but intermittently. The blotches were often kidney-shaped or lips-shaped, with an outer pink ring surrounding a yellowish centre. They faded within hours, leaving brown marks which faded later. The G.P. saw her at age six weeks and diagnosed erythema neonatorum, assuring us that the condition would resolve itself. We ourselves eliminated the possibility of allergy to particular clothing materials.
4. At around age six months there were occasions when her arms and legs turned purple, while blotched; her face and ears took on a whitish waxy appearance; and she chittered, somewhat as though shivering. Each time she recovered after vomiting. On the third occasion the G.P. was sent for; he assured us that this was a typical allergic reaction, but referred us to Yorkhill Hospital, Glasgow.
5. At Yorkhill Dr Hague, an immunologist, said that the blotching was a rash typical of erythema multiformae, but that recurrent erythema multiformae in one so young was unusual. Blood tests for allergies and viral infections had negative results, except that they showed anaemia and raised ESR.
6. At nine months Molly was seen at Yorkhill by Dr Lever, a dermatologist, who advised that a biopsy would give a definite diagnosis, but that she did not want to perform a biopsy on one so young.
7. At this stage we ourselves wondered whether sunlight brought on blotching. We also noticed that her skin was clear in the mornings but not by evening, when her bottom could look almost ulcerated.
8. When Molly was 15 months old, Dr Lever prescribed Zirtek and Ucerax. These yielded no apparent benefit, though she took them for nine months or more.
9. At around this time the whites of Molly's eyes would become a suffused pink, with tearing, and her face would swell to the point of distortion. Her lips and face would turn blue, while red dots would appear on her face, shoulders, arms and thighs.
10. We attempted food diaries and suspected eggs, tomatoes, tangerines and food colouring additives as possibly causing allergic reaction, but could not positively identify either foodstuffs, or our dog or cat, as allergenic.
11. At perhaps 18 months Molly seemed to have acute urine retention, which was relieved by urinating in a warm bath. A urine test showed the presence of blood but a lab sample showed no infection. Blood still shows at times in her urine.
12. From around 2 years she began to complain of sore hands, wrists and feet; the pain was reduced by Calpol.13. At 30 months she developed a severe limp, her left knee collapsing inward. The local hospital diagnosed irritable hip; Dr Goel, a rheumatologist at Yorkhill, pronounced hypermobility. An X-ray of her hips showed a degree of serration which was agreed following discussion to be normal. A slit eye test showed negative also for rheumatoid arthritis. Her echocardiogram showed a pinprick hole.
14. At about 3 years Molly began to complain of sore mouth. the local dentist diagnosed trauma but a second pointed to an association with urticaria vasculitis. We discussed this matter with Dr Lever, and are awaiting an appointment with a dental specialist.
15. From the start Molly has been blotched around the vagina and complained of soreness there. Recently her blotches have been itching; previously they caused no discomfort.
16. Molly is an active, able and happy child who seems to be developing normally apart from the above symptoms. However, Professor Michael Dillon of the Department of Nephrology, Great Ormond Street Hostpital for Children, disagreed. He examined her in March, 2002 and suggested that she suffers from the progressive CINCA Syndrome (vide his letter), so that time will tell whether and, if so, how far her joints, long bones and brain are affected.
17. In June 2002 Dr Janet
Gardner-Medwyn, together with Dr Hague, saw Molly at Yorkhill Hospital. Molly's weight at
this date is 158.32 and her height 98.1, which Dr Hague pointed out is above average.
Dr Gardner-Medwyn manipulated Molly's toe joints, ankles, knees and hips, and observed the movement of her hands and arms, but found no abnormality. She also asked how long Molly's blotches lasted, and how Molly is developing. We explained that the blotching occurs daily, more or less, becoming more evident towards evening. The condition also flares up more violently every few weeks. Otherwise Molly is developing normally so far as anyone can see.
Dr Gardner-Medwyn remarked that abnormalities associated with CINCA, such as enlarged knee joints and cranium, often begin to appear at around the age of two years: the longer Molly continues to develop normally the less likely she is to show such abnormalities. She would read around to see whether Molly could have any other conditions other than CINCA, and would arrange a further blood test for one or two of them, and look for a cause for the blotching either in Molly herself, or in something external to her which, however, might be difficult to identify.
She concluded that no treatment is indicated at present since Molly's blotching
is not symptomatic, and recommended a slit-eye test every six months. On this occasion the
white of Molly's left eye happened to be pink again, and at our request Dr Hague looked at
it briefly. (For the first time at these consultations Molly Molly was uncooperative; she
finally relaxed but only so far as to play at talking like a baby.) Dr Hague commented that eye surfaces have some
skin features, and it should not therefore be surprising if the eyes are affected in this
way.
We also requested the results of the most recent tests.
a) The X-ray of the knees showed no abnormality. The X-ray of the hips showed a slight splaying in the right joint, but not to an abnormal extent, and consistently with the fact that Molly moved during the X-ray.
b) The February blood test showed no change to the ESR level. Assuming that 5-10 is the normal range and 150 abnormal, Molly's level is around 30. Dr Hague commented that this could be explained by the skin condition itself.
We also invited Dr Gardner-Medwyn to comment on Professor Dillon's remark that Molly has a 'saddle' nose. She said that he would have been going through the constellation of CINCA features; she saw Molly's nose as normal. She said that Molly would 'look less strange' as she got older, though she evidently meant merely that the bridge cartilage would in time be replaced by bone (not that she looks strange now).
We said further that we were not keen to have a brain scan or lumbar puncture at this stage, given that nothing shows which such tests might investigate. Dr Hague agreed, comparing their diagnostic value to looking under a car bonnet, unlike running the car.
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Isabela Condé
"My name is Mauro Condé and my wife is Beth Condé. Our daughter Isabela has Nomid. We live in Brazil (Belo Horizonte). Our history is very similar to the others in this website. We have been through the difficulty of diagnosis, pains, very strong medicines etc. but now there is a rich possibility with the new medicine.
After our first son (Joăo Guilherme) was born without problems in 1993 we waited for our second child. Surprisingly we knew it would be twins -- two fraternal sisters (not identical) Isabela with Nomid and Barbara without Nomid. The pregnancy was without problems and they were born on May, 06, 1995. Two days after the birth, Isabela had a rash on the skin but she was apparently a healthy child.
Within a few months, she started having fevers every night. Because of the rash we tried a dermatologist but no problem was found. She became worse and we tried different kinds of medical specialities without anyone knowing what was happening. At about 3 to 4 years she had arthritis and we thought she had JRA. The pain was terrible and she took corticoides and metrothexate. A test by the eye specialist showed she had papiledema in both eyes. We continued the research when she was 5 years old and she started to lose hearing (now she has severe hearing loss and uses a hearing aid).
Around this time (2000) we found out about Nomid. But she never had neurological problems and we did not know exactly if it was Nomid. The neurological problems started when she was seven years old. She had a brain stroke and she lost her right arm movements and could not speak. Fortunately, in three days, she was OK. We stayed a week in the hospital. In the same year, she came back to the hospital with a very strong headache. This time we stay just for three day. Our research about the disease and the possibility of treatment led us to the NIH and Isabela is now taking Anakinra and is very well. She has no more pain.
In spite of the problems Isabela has a very good sense of humor. She is a smart girl and she goes to school everyday and even with the difficulties she is making progress. Naturally her efforts are stronger than her results, which are just sufficient. Now (2004) she is in the second grade. Isabela's sister and brother and her friends and all her family are very important in this educational process. Isabela has a lot of dreams of the future, for instance, to drive cars, design clothes (stylist), be a teacher etc."
Ross Doune
Warmest regards Lorna and Kenny.
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Kristen Downey
Date: Wed, 9 Feb 2000 07:54:51 -0500
From: "Alan Downey" <alan.downey@ncounty.net>
To: "kate barton" <jkbarton@ix.netcom.com>
Dear Kate, thanks for writing back. Obviously with so few cases of this disease diagnosed,
it is very comforting to have some one to speak with and compare outcomes of therapies
etc.
Kristen is three years old, she will turn four in July. Her growth has definiately been stunted by steriod use, and we currently are pursuing growth hormone therapy for her. She was born in July of 1996, two days later developed a large red rash everywhere. I am a nurse, currently a hospital administrator, so I was probably a little pushy, but did not buy the diagnosis of newborn rash. I insisted that she be seen by infection control, dermatology, another neonatologist, etc. A lumbar puncture (LP) was performed at that time of birth showing high pressure and white cells, so they gave her massive doses of gentamicing and vancomycin. We were discharged 7 days later ( she only weighed 4 pounds ) and still with a rash.
I was obviously very upset, because this was my second child, my first is
healthy with a wonderful pregnancy, this one was not a good pregnancy from the start. We
struggled for 9 months, trying to find a diagnosis which made sense. Finally on Good
Friday, she awoke with her left leg contracted to her chest, in extreme pain. We had hip,
knee, leg x-rays, etc done, and was told it was a sprain. When this
continued we were sent to Dr. Robert Fuhlbrigge, Rheumatologist at Children's Hospital in
Boston. He looked at her and said this was NOMID or CINCA, as it is also referred to.
She was admitted for another LP, lab work and an overnight trial of intravenous steroids. I left the hospital with a more bright, energetic and less pained child. This MD led us to Dr. Prieur in Paris, who has seen the most cases of this disease. This doctor actually flew with us to Utah to meet Dr. Prieur at a conference, and have her examine Kristen, because I wanted a second opinion. She looked at Kristen's bulged forehead, and left knee and confirmed our diagnosis. When I started reading the articles, all of which were written long ago, and done post-mortem. I remember crying like there was no tomorrow. I decided that I would contact one of Dr. Prieur's patients in Paris and found her to be lovely, but there is a communication barrier as well.
I know of four children with NOMID ( including Alex) who are currently in treatment. From my understanding this is about 1/10th of thos diagnosed. During my pregnancy, I noticed less fetal movement than with my son. I have frequent ultrasounds and non-stress tests, all which showed her to have slo growth. I ended up having an emergency c-section due to a low heart rate. I have been told that there is no genetic trace to this disease. Currently I would like to have one more child, but want to see what other families with NOMID have experienced before doing so, and if they have seen a genetic link.
The only illness or enviromental factors I can remember, was I did work in a
facility close to large electrical towers at that time, did have a flu/strep throat, and a
period of feeling not well after drinking a lot of milk products to try to put on weight.
Other than that I have no associations as to the cause, expecially since I never
experienced this with my first child.
Kristen is currently facing the following: She does have a pronounced forehead,
not as noticeable as before, she does have a limp and a larger knee cap on her left leg
than the right, we did have a bone biopsy done of this leg, and maybe your doctor can call
mine to compare results, a little too scientific for me. She is treated by physical
therapy three times a week to ensure continued movement. For pain control, she seems to
have pain in her left leg once a week, best helped by oral steroids, but is on methadone
three times a day, followed by the pain treatment center. We did try leg braces, etc to
ensure proper leg development, but really no change noted. The family I have corresponded
with in Paris, their child can't walk and has all extremities involved. I guess we are
more fortunate. The MD at Children's was afraid to inject Kristen's knee with steroids as
the bony plate may not grow. Did you have this issue? DId the injection help?
We currently have found that she has hearing loss either due to meningitis or the antibiotics at birth, so she has hearing aid which have helped and improved her speech. She gets weekly IV steroid ( she was allergic to solumedrol, so is now on decadron ). Her port-a cath was just removed and now we are doing every other week IV, and every other week oral steroid. She is on weekly methotrexate, daily colchicine ( since starting this we have cut her weekly steroid doses in one-half ) and daily steroid oral.
Obviously this is a lot to digest, but Plese feel free to ask me anything, and share anything, in a hope that we can help our children get the best treatment.
Thanks - Sue
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Carina van Duijvenbode
Translated by Geraard Noordhof:
"It's difficult after these many and lonely years to put our history on paper. I will
try to put down the major lines.
I’m Marleen and will be 32 at the 29th April. My husband Wim will be 33 the 10th of
April this year. Our first Daughter Carina was born on 10th July 1989 and she is
suffering with Nomid/Cinca. Her sister Marielle was born on 25 April 1992.
Carina came after a normal pregnancy of 40 weeks. The birth had to be in hospital
due to some required help via a pair of tongs. In a view days we went home. Only
with some "normal" skin rashes. (We know better now). During the next weeks
Carina started to cry day and night. So the first serious hospital researches started. It
took 4 years to discover her Nomid Syndrome. Carina was a bad eater and vomited a lot. We
used a feeding tube NTG. After a stomach examination, they found a non
complete ring closing. At many fever flare-ups they found values of high
inflammations, but never a source. She was seen by a lot of Doctors over the years.
Carina did walk late at her 2nd year. We all had the feeling that she suffers with a
heavy illness. My goal was to try to protect her. At her 4th year she had a severe kind
of "waterpocks / chicken-pox" with giant spots.
Since her 5th year she does not walk, Once had a gold injection in both knees, but it
didn't do anything. Carina had a view visits at the OR for her ears. Once operated for
an inflammation on her "rockbone". She also suffers with inflammation of her
eye-nerves, so blindness could be a final result.
In October 1996 she had 3 time a bleeding in her brains. She is now left side
paralyzed. She uses an electric wheelchair now, which goes very well for her.
September 1999 she suffers heavy pain at her feet, due to bone osteoporosis.
She became psychotic and started to say good-bye to us. It was terrible for our
family.
Carina uses Prednison for reduction of the inflammations and Adalat against high
bloodpressure. Diamox to loose brainfluids. Calcium with Vitamins. Clomipramine
against pychose. Kaliumdrink for her low kalium standard (cardio risks). Also check
on her liver and spleens are necessary.
After al those years with deterioration’s it's hard to orientated on her future. The
daily difficulties programming our week routines. She is already 10 years now
and we are thankful that she is still with us. But we are hoping and praying that she stay
with us with an except able condition.
Best love to you, Signed Marleen”
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Seth Durrant
Born: September 23, 1999
Pregnancy: 8-16 weeks: Mild pre-eclampsia,headaches and uterine cramping. 18 weeks gestation to birth: Strict bed rest for pre-term contractions. Terbutaline, and Magnesium sulfate IV used to stop pre-term labor. Premature delivery at 33 1/2 weeks gestation due to severe fetal heart decellerations with contractions while preventing labor. Prepped for emergency c-section, but during that process, Seth started to come vaginally. The umbilical cord was stretched, thick, hard, yellow and and broke off at his belly button while coming down the birth canal. Apgar scores 5 and 8, weight 5 lb. 2 oz, 17 1/2 inches long. Placenta was enlarged. Cord and placenta sent to pathology, due to odd appearance. Pathology report: "Placenta, cord and membranes: Grade III Acute Chorionamnionitis with Chronic Necrotizing Funisitis (CNF). CNF consists of rings of calcified, necrotic inflammatory debris surrounding the umbilical vessels.... and is assumed to indicate an episode of chorionamnionitis/funisitis at some time earlier in gestation...Uncommon lesion about 1/1000 births...." G. Machin, MD. (I have discovered that there are some others born with NOMID that have the same abnormalities)
NICU patient for 2 weeks:"mild respiratory distress syndrome". Bili lights for jaundice treatment. IV antibiotics Ampicillin and gentamycin, for suspected septic infection (though cultures came back negative). Erythromycin eye ointment for Conjunctivitis, which did not respond to the medication. (Now we know this is NOMID) Plugged lacrimal ducts (lasted first 2-3 months of life). Labs:High White Blood Count (with high neutrophils), high platelets, Low Hematocrit, and hemoglobin. Rash: Seth developed a slight rash while in the NICU on his fingers, a few spots on his back, and a lot of large blotches around his eyes, and face, but these were attributed to his eye infection and other possible infection.
He got more rash around 3 weeks, which would fluctuate, but always persisted until the Anakinra treatment started in January 2004. Seth also had "bands" of red rash around his wrist area, as a baby. The rash was itchy, and he would make scratches all over his exposed skin from itching. Supposedly, NOMIDrash is not usually itchy, but Seth's was! Inflammatory
Flare ups: Extremely miserable flare ups started at 8 months, that included; intense rash, fevers, head, neck, spine pain, vomiting bile, diarrhea, irritability, excessive thirst, and profuse amounts of dark tan/yellow urine in his diapers throughout the flare. Vomiting would last over 3 hours, and the flares would often start in the early morning, or late night hours. The fever and rash, and other flare behavior would continue to get worse all morning, then by afternoon, he would take a nap, sweat out all over his crib, and wake up with a lower temperature. Then he was able to start to eat, but would still be thirsty.
13 months: We were out of town, and Seth was doing well, until 2:30 a.m. (why do things always happen then?) Seth started flailing around in bed, and was grunting, moaning, and miserable. At first, we just thought it was another one of his episodes then, noted he did not have his rash, or a fever, and things were not like the usual flare up behavior. I worried he may have a pneumonia, sepsis or meningitis, but had not been sick in over a month. We drove him to the ER, and when they did Xrays as part of their work up, they was found a pericardial effusion, near tamponade. (Fluid, blood and fibrin clots around his heart in the pericardial sac, so it fills up, and puts pressure on the heart). It was within hours of stopping his heart. In the pediatric ICU, and they drained off 130 cc of blood, fluid and fibrin. It was sent to pathology, but nothing was found (The NIH has this as well now).
Seth was pretty much unconscious for days afterwards, except for sucking on his pacifier, and I feared that I had lost my smiling, social little boy forever. MRI of his heart: Large quantity of fibrin deposits in the pericardial space, but the fluid was gone. But, they also found a small mass between his heart and spine, that had it's own blood flow, so cancer was suspected. They decided to do a blood test for neuroblastoma, which came back negative, so they put off surgery. I was a wreck! A few days later, the fibrin clots had redued by half on the echocardiogram (the doctors thought it would take months to absorb or require surgical removal).
Our family and friends had been fasting and praying for a miracle, and we feel that Seth was blessed. A few weeks later at the last MRI, the doctors were stunned to find all the fibrin clots gone, and the "tumor" was nowhere to be found! The doctors all said that the MRI of his heart was perfect, as if Seth had never had been ill! Labs: High ESR, Platelets, White Blood Count, with a lot of Neutrophils. Low hematocrit, hemoglobin, MCV and MCH (all consistent with anemia) Blood, pericardial fluid and all other cultures negative for infection.
Seth stopped growing for over 6 months after the pericardial effusion, and did not walk until almost 17 months. Once he started to grow again, it was not at the normal rate. Skin Biopsy: His biopsy was was sent around to 3 doctors over the next year. 2 specialists thought it was Urticaria, or Urticarial Vasculitis. When Seth was almost 2, Dr. Ilona Frieden at UCSF saw the biopsy. She had written a paper in 1995 on NOMID skin biopsy findings. Her diagnosis: "Sparse Interstitial and peri-eccrine Dermatitis with Neutrophils...This biopsy demonstrates an increased number of neutrophils in the eccrine coils, a finding linked with the NOMID disorder, which I believe to be the likely diagnosis."
Seth did not show any of the classic severe NOIMD symptoms before he was 2 years old (his eyes, hearing, joints and mental tests were normal, no facial characteristics, however the tests of the eyes and hearing were not as involved as at the NIH). Except for the rashes, biopsy, flare ups, and labs, he did not fit the common description of NOMID. Everyone was was perplexed, and not convinced that Seth was really suffering from NOMID.
By 2, he was having flares every 3-4 days, often the complaining of terrible pain in his head, and would not let anyone touch him on his neck,or spine, during flares. He did not like to be messed with, and also was light-sensitive. Right before his second birthday, he woke up, and would not walk on his right leg. My first thought was that maybe he really did have NOMID, but the orthopedic doctors diagnosed him as having post-viral synovitis in his right ankle, and gave him Ibuprofen for 3 weeks. This helped, so then I thought maybe I was just paranoid.
By 3 he was flaring almost every other day, hadstopped growing for a year, and his anemia was worse. He was suffering, very weak, and did not want to walk much, so we used a stroller to get him around. I begged the rheumatologist in November to test Seth for periodic fever syndromes, but she agreed to only test for TRAPS. So, I took the Gene Dx lab form to my pediatrician and lied (sorry), saying that the rheumatologist wanted all the tests done. Our doctor felt that we may as well test for all 4 available, since we were sending a sample, and the insurance had approved the tests.
We got a call in January, 2003 saying that Seth had a new, novel genetic mutation for NOMID (G326E). I was stunned, since we finally had a clear answer, after all this time. But I was concerned about what the future could be with this syndrome. Through the NOMID home page and support group, I found hope, and learned of the NIH research.
NIH: Seth saw the NIH doctors in April 2003, and was found to actually have mild papilledema in his eyes, slight sensoneurial hearing loss and high pressures in the ear. The spinal tap had high opening pressures and cellular sign of inflammation. His joints had not developed bony changes, but he had a valgus on his right knee, so he was given orthotics. His cognitive and mental tests were good, but they needed speech therapy for articulation and weak tongue muscles. Labs: High: ESR, C-reactive protein, platelets, White blood cells, neutrophils, Serum AA (amyloid). Low: Hematocrit, hemoglobin, MCV consistent with anemia. Seth was only on Naprosyn and Zyrtec, but these did nothing for him. The doctors did not want him to do corticosteroids, but wait for the Anakinra protocol.
Anakinra started at the NIH in January 2004: Within 24 hours, the rash was gone, and Seth started to feel better. He began to walk more, and was more active just a few days later. One month follow up: Normal labs, except for high platelets,. Seth had grown an inch, and gained 1 pound in that month. We were stunned, since he had stopped growing for over 1 1/2 years! One 1/2 year follow-up: Papilledema gone! Hearing and other tests normal. Valgus in right knee a bit worse, leg a bit shorter, but otherwise ok. Seth back on the growth chart in the normal range, and feeling "great" most all the time. Recurrent sinus infections, now triggering inflammation in his eyes that were potentially blinding, called "plastic uveitis and iritis". Thankfully, he responded well to the eye medicines, and did not suffer any permanent vision loss. Evidently, this occurs in children with NOMID more frequently, and only 55% respond to the eye medications.
August 2005: Seth fianally got his Tonsils and Adenoids removed, since he had been having chronic problems with sinus infections for over 2 years. We had to wait until he had been on the Anakinra for a year, and was stable. We had tried Zyrtec, and Flonase and then saline sinus rinses to help him.
Other strange things of note: During periods of extreme illness, especially viral, his rash would temporarily disappear, or fade to almost invisible, until he would begin to recover. Then, his rash and flare of fevers, headaches, and joint pain would be intense for a few days. We call this the "finale" to his illnesses. Ever since being on the Anakinra, he usually does not show the rash with his "finale flares", but has all the other symptoms of headaches, fevers and aches and pains. Seth did have a very bad rash and flare-up 5 days post surgery to remove his tonsils and adenoids,in 8/05. He was treated with maximum doses of Anakinra (3 mg/kg) for 5 days to control that flare up.
Food allergies: At 15 months, he had developed an allergy to egg and cow's milk, although he had not been fed these. (I nursed him until 16 months, when I had started to fear that maybe he was allergic to my milk) I am allergic to cow's milk, so I am to blame for that, but the egg is most likely due to his exposure to propafol 3 times at 13 months for MRI's,because this anesthesia drug has an egg component.) Lot of allergies to adhesives, and bandages, such as tegaderm, and reactions to dissolving stitches. Chronic toxic green /black diarrhea from birth, until he was past 6 months (improved a bit after starting solids). The nurses in the NICU were stunned, as I, and he was going through over 140 cloth and disposable diapers a week once he came home I have since spoken to a few other NOMID families that have experienced this as well. Chronic scalding diaper rash, even after the toxic, chronic diarrhea resolved. We had to "frost" his bottom and privates with Diaper creme (Desitin, etc.)with every diaper change, or else he would have burnt looking red skin. He still gets irritated on his "boy parts" and we still have to use the cremes. Also, he gets eczema, and some other rash, out of nowhere, on his body that is itchy and bumpy.
Sweating at night: (especially his head) No matter what he was wearing, or the temperature, he was sweaty at night, or during flares. It looked like we had been put him to bed in dripping wet towels, since there would be large wet spots where he lay in the bed. This persisted until the Anakinra treatment started.
Wild flailing around when sleeping: he would kick and rotate his legs, and go around and around the crib all night in his sleep. This persisted until the Anakinra started, so he was kept in a crib to keep him safe at night. He still kicks his covers off, but stays in one place now!
I hope this helps, I wish I could be more concise, but maybe it will help another family struggling with this syndrome to get diagnosed, and prove to their doctor that they are not crazy! Thanks for this wonderful site!
Karen Durrant
Zachary Eise
I'm finally getting organized and attempting to write
a condensed version about my 17 year old son, Zachary Eise. He was born on June
19,1984 in St. Louis, Missouri. He has two healthy siblings, Nicole who is 21 and
Eric who is 20. Basically, at birth similar symptoms like other CINCA infants; high
fever, a rash covering his entire body, an extremely high white blood cell count.
Through his first year of life the doctors performed various test, ruling out
various diseases. By 18 months he began to get ventricular swelling, causing his head to
increase in size. At that same time he wasn't able to keep any food down. They
placed a shunt in his head, performed a brain biopsy and shortly after started him on
steroid treatments. All improved, lymph nodes were no longer enlarged, his spleen
decreased in size, his appetite improved ALOT! and he was able to walk better.
When he was about 26 months old, they tapered him off the steroids, hoping his own
immune system would "KICK IN" so to speak. With a history of vasculitis
discovered from his skin and brain biopsy he unfortunately was so dependent on the
steroids that his carotid artery constricted, causing a stroke that affected his right
side. Through therapy, he has managed to compensate and use his left hand.
Everytime they attempt to taper the steroids his immune system would attack another
area; his brain, spinal column, pericardial sac, hips, knees, esophagus, and stomach.
All of course are inflammation without infection.
We have tried all the drugs, including some of the new experimental drugs attempting to lower his steroid dose. After being on steroids for over fifteen years daily he has severe osteoporosis, causing two of his vertebrae to have compression fractures. In October of 1999, he had a stem cell transplant, hoping a sterile environment under controlled conditions might rid him of this disease once and for all. Unfortunately, it was not successful. So little is known about this disease and each case varies not only in what parts of the body are affected, but also the severity of the disease varies with each child. The only drug so far, that has helped us reduce his steroid dose from 20 mg to 10 mg is Thalidomide. He takes 50 mg daily and seems to tolerate it well. At one point he was up to 150 mg. and he began to get neuropathy(numbness of the fingers and toes). The other drugs he currently takes are methotrexate-sub cutaneous injections once a week,aciphex and zantac for his stomach, palmidronate infusions a series once every three months for his bones along with calcium supplements and a baby aspirin.
I was wondering if any other children cycle daily.
His nights and early mornings have always been the worst times for him; whether it
be leg pain, chest pain, headaches, stomach aches or fevers.
In the past year they have noticed an increase in
hearing loss, especially in his left ear. He now wears a hearing aid. His eyes
have lost some peripheral vision so we are monitoring those two areas every six months.
Last month his headaches increased. They performed a MRI and have found he is
for some reason producing red blood cells outside his bone marrow by his pituitary.
Once again its stump the doctor and at the present time I have contacted several
children's hospitals in the area to see if they can shed some light on this new dilemma.
Through all of this, it amazes me how Zach is such an
optimistic young man. He is only 4 feet 2 inches tall, who loves sports and yet
unable to play them. School is a real struggle for him, since he misses so many
days. He says, "Maybe after I graduate from high school, I can be a sports
announcer."
My prayers and thoughts are with all of you as they
are for my son. Thank you John and Kate for setting up this web site. It took me
awhile to sit down and write this. If I can help anyone in any way please feel free
to e-mail me.
Take
Care.
Jan
DaPrato
e-mail
jan71054@aol.com
Aug 2005 comments from Jan: Zach, has been doing great ont the Anakinra. The only thing I have noticed is that he gets more colds and or allergies. His hearing and vision seem to be stable and have not progressed any more since the Anakinra was started. Thank God, it was getting pretty scary. He turned the BIG 21 years old this past June. I hope all are doing well. Take care and God Bless all of you.
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Kieran Griffin
Dear John and Kate,
First of all, let me thank you for maintaining
the web page and discussion group. Both have
been very helpful.
I am including a history of Kieran that is
quite extensive, feel free to cut and paste as you wish. I
may have included more than anybody wants to know:)
To make a very long history short, Kieran was
born with the rash, has progressed to joint and lymph node involvement, intermittent
fevers, mouth ulcers and anemia. We feel very
blessed that this is all we have had to deal with so far.
His growth and development have been very normal. He is a very intelligent little boy. We are going to the NIH in Washington DC, to see
Dr. Daniel Kastner, Oct. 12th
– 17th to have genetic testing, as well as other exams (eyes, ears, joint
range of motion, brain CT etc…) We would
be happy to share all of the information we gather with the group as soon as we get back.
Thanks again,
Michele and Mike Griffin
Kieran
Mackay
DOB:
Parents
and Pregnancy:
Mother: Caucasian, no dominant lineage,
age at birth 27
Health problems: asthma, hx. of infertility
Father: Caucasian, no dominant lineage, age at
birth 37
Health problems: none
Pregnancy: no complications, mother remembers
no significant illness during pregnancy, baby
born at 39 weeks via cesarean due to breech presentation without complication, apgars 9
and 9.
Kieran:
*10 lbs, 21 ž inches long, (95% on growth chart) at birth, noticed immediately
Kieran had a protruding forehead (frontal bossing).
*Within first 12 hours after birth, developing
purplish discoloration “rash”, Dermatologist report:
“Baby has some acrocyanosis
with rather dark blue color to feet. What is
noticeable however, are some areas of violaceous discoloration in a patch-like pattern
over the ankles and some more discrete violaceous macules up to 8mm in size, some were
sharply marginated than others, on legs and arms. Trunk/head
appear to be clear, one small lesion on right hemi-scrotum may be a similar mark. These have no induration, cannot be palpated. It is unclear the nature of these vascular
appearing marks. They do not represent
typical newborn vascular change and are not typical of problems associated with extreme
dullary hematopoiesis.”
*note: Kieran was given the Hep B vaccination
at birth.
*After initial purple color, rash charged to
red raised bumps within 2 days, looks like hives now, palpable and they blanch.
*4 months, back to original dermatologist, “Urticarial papules over
large areas of body basically sparing the trunk but over arms, legs and buttocks with some
lesions on trunk. Face is also involved. They are partially blanchable and palpable, No
welting is noted with compression or rubbing. Etiology
is unclear, Very unusual condition. Plan-withhold
breast feeding to test for allergy to mothers milk, try benedryl to see if this is a
histamine- induced reaction.” Kieran
develops the first of many bouts with croup. Given antibiotics.
*6 months, 90% height, 90% weight, 95% head
circumference, trying new formulas, detergents, lotions etc…hives continue, (not
mentioned before, eyes also get red occasionally, we describe this as Kieran has a hive in
his eye)
*17
months Kieran acting very abnormal, lethargic, shaky, feverish, acts like feet and knees
hurt, wants to be held, won’t crawl or stand up.
*18 months 95% height, 95% weight, viral
illness diagnosed because Kieran is starting to have a low
grade fever and is lethargic every couple of weeks. Hives
get very bad and fevers and swelling in feet seems to accompany. Treat with Tylenol.
Usually only lasts 4-5 hours,
he sleeps and is better when he wakes. Referred
back to Dr. Hansen Dermatology “The
chronicity of his urticaria is totally unique in my experience.” From this point on Kieran continues to have bouts
of fever, knee, hand and feet swelling and his hives are terrible during this time. He gets “croup” every couple of months
which usually resolves in 2 or 3 days. Kieran
also has had chronic ear infections.
*2
˝ years, Kieran seems to have his acute periods of swelling, intense hives and fevers
more often. He also has noticeably swollen lymph nodes on his neck and groin area that are
larger some days more than others, but always enlarged. I find myself giving him Tylenol at least
once a week. Everyone tells us it is not a life or death illness or he wouldn’t be so
healthy otherwise. Kieran now taking Claritin
and Zantac
*3 ˝ years croup again, fevers, swelling,
hives continue. Unable to walk some days due to
pain in feet.
*4 years. Along with everything else still
happening, Kieran has now started getting
ulcers in his mouth that he will
continue to get approximately every few months. Lymph nodes get very large
occasionally but are always swollen. We take
Kieran back to Dr. Wong Allergy and Immunology. Dr.
Wong felt we should get aggressive and try steroids to try to knock out this
“process”. Kieran was placed on
Doxepin, Singular, and Zantac with no improvement. He
was then put on ora-pred for a month along with the other drugs. No improvement at all. We did notice that the doxepin didn’t make
Kieran’s hives go away, but did seem to keep the fevers and the inflammation down. He continues on Doxepin to this day.
*4
years 9 months, we moved from
We were sent to Dr. Terry Moore Rheumatology
at Cardinal Glennon Hospital in St. Louis who stated Kieran didn’t seems to have JRA
or Lupus (more labs were run, results to follow) We
were sent to a dermatologist Dr. Allana Bree
for a skin biopsy the same day which was basically inconclusive. Note…During this acute week and ˝ period,
Kieran continued to have abdominal pain. The rash eventually faded and we were sent to Dr.
Knutsen Allergy and Immunology at Cardinal Glennon a week later. Fortunately Dr. Knutsen has another patient who
has CINCA and after an amazing amount of lab work (results to follow) we were given the
preliminary diagnosis of CINCA.
*4 years 10 months, the “new rash “ has faded and the
“old rash” continues, Kieran is still getting the stomach aches, but the joint
swelling is gone. He had another
“croup” episode that lasted 5 hours and one of his knees became red, painful and
swollen. He is still taking to ora-pred but we are tapering off. He is on iron because it
is discovered he is anemic.
*5
years, stomach aches resolved, back to same old symptoms that have plagued him most of his
life, swollen glands, hives, occasional fevers and joint (mainly knee) pain. Kieran gets his eyes checked by Dr. Oscar Cruz Ophthalmologist at
Cardinal Glennon “Examination reveals a visual acuity of 20/20 in each eye. Pupils and intraocular pressures were within
normal limits. Slit lamp exam did not
demonstrate any intraocular inflammation. A
dilated fundus exam demonstrated normal maculae, vessels, discs and periphery. There were no signs of optic nerve elevation or
papilledema.”
*5
years 5 months, Kieran is only experiencing his “normal” symptoms; hives,
occasional fevers, occasional joint swelling, and swollen lymph nodes. We are noticing that he is having more
“bad” days than he was a month ago.
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Glenn Henry Hand
Glenn and Isabelle were born on the 22.09.1999, at the Box Hill Hospital.
After trying for nearly nine years, we decided to try IVF, after waiting 6 weeks we found that we were expecting triplets. At 18 weeks an ultrasound showed us that we had lost the smallest triplet. I started maternity leave at 15 weeks due to high blood pressure, so the remainder of the pregnancy I was to stay in bed and rest.
Glenn and Isabelle were born at 33 weeks and 4 days. Glenn weighed 1465 grams and Isabelle weighed 2080 grams. Isabelle required a little oxygen.
24 hours after Glenn was born a rash developed, the Doctor informed us he was sensitive to breast milk and so changed it to a special formula, after 72 hours the rash was still present and it was now coming and going.
The Pediatrician treated Glenn for everything from Meningitis to bacterial or viral infections. They used strongest antibiotics they could on Glenn and usually this meant that his veins would collapse and so the Doctors would had to recite the drip this happened every two to four hours because his veins were so tiny. Glenn had x-rays, bone scans, ultrasounds, spinal taps and countless blood tests,
Doctors at the Box Hill Hospital did not listen to us at all and we found that they did not tell us everything that they were doing and even today I am still angry with them for what they put Glenn and us through.
Finally the Hospital admitted that they did not know what they were dealing with and so transferred Glenn to the Royal Children’s Hospital on the 1 November 1999. Within one hour of being there they told us that Glenn may have a rare disease and would consult a Dr Roger Allen, Paediatric Rheumatologist told us that Glenn had NOMID.
Glenn was discharged on the 12 November 1999; at this point Glenn was on no medication at all. We thought this was a good sign.
Glenn suffered from reflux and I had
On the 12 April 2000, Glenn was admitted because of high temperatures and failing to thrive. Our stay in hospital was for two weeks. Glenn came home with the following medication Prednisolone 1.8mls, Naprasan 1ml, and Zantac 0.4ml.
In July 2000 Glenn had large doses of Cortisone injected into his knees this was done under anaesthetic. Unfortunately this procedure was not successful. Infact Wayne and I both feel it only made Glenn’s knees worse.
We found that Glenn was lactose intolerant and therefore a new formula was started, Liz Rogers, our Dietitian started Glenn on Delact with poly joule(extra calories) and a liquid fat (peanut oil) was also introduced.
On the 11 September 2000, Glenn was admitted with diarrhea. Glenn had contracted a rota virus, his weight went from 5.2kgs to 4.6kgs. Under anaesthetic Glenn had a central line put in his main artery in the neck.
Glenn was placed on a special diet of vitamins and fats that were pumped through him over 24 hours, only some amounts were allowed orally.
The tubes taking the vitamins and fats to Glenn has to be changed every three days and the site was changed every six days. Glenn developed an infection at the site; he was given two strong antibiotics over the next week. It was then decided that they would remove the central line and put in a new one.
Because Glenn had had two dose of anaesthetic within ten days, Glenn did not respond well in recovery, he was placed on oxygen overnight.
The 2nd central line was better placed and stitched in much better than the 1st.
Glenn’s weight went from 4.6kg to 5.4kg in six weeks. During this stay Glenn
had temperatures of 40 c, which we had never had before and therefore had no idea what was happening to our little boy. (Both our Doctors Allen and Akikusa were at the conference in Geneva meeting with all the other Doctors who had NOMID patients. Both Wayne and I have little or no confidence in the Doctors that were treating Glenn and we were counting down the days until they returned. I never realized how much we had come to rely on them). We were finally discharged on the 20 October 2000 with new medication Prednisolone .5ml, cyclosporn 0.2ml and Nurafen 2.5ml.
Glenn stopped eating any foods, would only take his bottle orally. Glenn had to drink 1100 mls a day of formula, what he did not drink during the day was given overnight through a feeding pump.
Monday November 20 2000, Glenn was admitted to RCH for a gastrostomy tube. This was a short stay of only 4 days we were discharged on Thursday evening. However we were readmitted on the Sunday morning as Glenn was not tolerating the feeds at all. Problems were solved and we went home on Monday evening. We have had problems with the tube leaking around the site and having to change Glenn’s clothing and dressing 6 to 7 times a day.
I was slowly going crazy and the stomach acid was burning his skin. But we just had to keep going and wait until we could have this temporary tube change to the button Bard in about three to four months.
During all the above Glenn had been having regular eye tests to ensure no inflammation in the back of the eyes. On our last visit the Doctors discovered some inflammation. We were again admitted for 3 days while Glenn had a high dose of Prednisolone given each day over the three days, we were discharged on the 15 December 2000.
We have had Glenn’s formula changed he now has Delact, poly joulle and maxi pro (protein) the liquidgen was stopped because it was making Glenn vomit. This new formula has made such a big difference to Glenn, as he now weights in at 6.1kgs.
Next visit to RCH as an outpatient and Dr Jonathan Akikusa and Dr Allen were very pleased with Glenn and don’t wish to see him until August 2001.
Dr R Heine has booked Glenn in for a replacement gastrostomy button on the 13 March 2001. All went well on the day we were home by 7.30pm. The new button Bard is working well, but we still have lots of leaking around the site and I am back to changing his clothing up to 7 times in one day. At times this also includes his bedding as well. Glenn now weights in at 6.6kgs.
Next visit to RCH will be on the 2 April 2001 for an Eye test. Glenn’s hearing was within normal range for a child his age. The inflammation that had been seen in late December 2000, was no longer there. Doctors happy with his progress.
Next visit on Friday 11 May 2001.
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Daniel Howlett
Our son daniel was born on the 28th January 1991(he was 2 weeks premature) he is our fourth child. We already had 2 boys and a girl now aged 16,13 and 14. We have since had another girl who is 6 years old, all of which are perfectly healthy.
Daniel seemed perfectly as well until he was 6 days old when he woke witha rash all over his face. The midwife didn't seemed concerned but said she would ask the doctor to come and see him. When the doctor came he wasn't sure either but because our eldest daughter had been allergic to baby formula he presumed that the same thing was wrong with Daniel. Over the period of the day the rash faded and then disappeared completly. Giving Daniel the Wysoy formula instead of milk formula didn't have any effect on the rash. He was quite a sickly baby as well.
Over the next couple of months and weekly visits to the doctors we were told to only dress him in cotton clothes as it could be he was allergic to other materials,change the washing powder I used as that could be the cause of the rash. Nothing made any difference and we were more or less put down as being paranoid about him, but we were convinced something was wrong after all we already had 3 children.
When Daniel was 6 months old he was referred to a paedatrician at our local hospital who performed lots of blood tests and everything on him but could not determine what the rash was.
At 8 months Daniel was referred to a professor David a skin specialist at Booth Hall Childrens Hospital, Manchester. Again after several tests he didn't know what the rash was but said it was probably Utricaria and would settle down in time. Around this time it was discovered that Daniel was anaemic and he needed an iron infusion.
Between him being 8 months old to 15 months old we were told to stop worring about him he would be fine. During this time Daniel did cry alot but it was put down to him teething.
One day when he was around 15 months old I'd been to pick the other children up from school and got back home I noticed that there was something wrong. Daniel was covered from head to toe in the rash, he was burning hot and he screamed when I tried to lift him out of his pram.
We rushed him to our local Accident and Emergency Department who admitted him to the Childrens unit. During the night his temperature dropped and the rash has usual just disappeared. However his left wrist and both knees were hot and swollen.
The following morning the paedatrician who originally saw Daniel when he was 6 months old came to see him. He told us it looked very likely that Daniel had Chronic Juvenile Arthritis. He also said that he thought Daniel had Arthritis when he was 6 months old but because none of his joints were swollen he couldn't be sure.
Over the next 2 years we were back and forth to the hospital. There still wasn't any change in Daniel's condition although he did walk briefly during the summer he was 2.
After a falling out with Daniel's consultant over the treatment he was receiving we had him transferred to Pendlebury Children's Hospital,Manchester.
Daniel was now aged 3. We went to see a doctor Claire Smith on a Thursday and she asked if it would be alright for Daniel to go into hospital the following Monday for intensive physiotherapy. On the second day she came to see us and told us she didn't think Daniel had arthritis but she had just read about a condition called Cinca and she thought that is what Daniel had. She said he had some classic symptoms of Cinca like a open fontanell and his head is a bit bigger than normal. Daniel was also by this time wearing glasses because he is long-sighted and his right eye turns.
Daniel had lots of x-rays taken and a brain scan which fortunately was normal. She also told us it was his knee bone itself that was swollen not his joints.
Daniel was put on prednisolone and ibrufen for the pain. He was in hospital for 2 weeks during which he had lots of physiotherapy which helped greatly in getting him up and walking. Daniel was also made splints to put on his legs at night to try and straighten them.
Daniel is now 10 years old and is coping well with his disability. Fortunately he doesn't seem to have any neuological symptoms.
One thing we have noticed over the years is how much the cold weather affects him and are wondering if anybody else as noticed this too. Daniel only as to be out in the cold for a short period of time and he can become really ill. His knees swell up,he will be covered in a rash and he will complain that he is cold but is really burning up. All that we can do when thie happens is to give him extra medication and put his splints on. Because of the adverse effect the cold as on him we don't get out much during the winter months and have to keep the house warm all day for him.
Daniel can't walk far so uses a major buggy when were out. Daniel is also small for his age.
He copes well at a mainstream school and is doing really well.
Anyway that's all I can think of for now but if you would like to know anything else please feel free to ask. Look forward to hearing from you soon.
Elaine & Mark Howlett
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Marcia Janower
My name is Flo Janower & I have just recently subscribed to the internet & this evening I have been reading through some of the information available about NOMID including your contribution. I had met the Lieffers several years ago when they came to Canada to meet Dr Dent. He introduced us to them during that visit. I have an 18 year old daughter named Marcia who has NOMID. Reading some of the stories from other families brought back memories of our struggle to find a diagnosis and then subsequently the ongoing difficulties of living with this disease. Marcia is 37 in. tall & weighs 37 lbs. She has joint deformities in her ankles, knees & elbows. She has severe osteoporosis & has had 2 spinal compression fractures as a result. She has cataracts & optic nerve atrophy resulting in very poor vision. She has mild hearing loss. She is learning disabled & is in special ed classes in her last year of high school. We have been very fortunate to have Dr Dent managing her medical care as he was one of the first physicians in Canada & possibly North America to be acquainted with this disease. In spite of that we have hadmany tests & trials & false hopes. Like most of the other kids Marcia is on Predisone. That seems to be the only drug that offers any relief of symptoms, but as we all know it does nothing to cure the disease. I'll continue to watch for more news & be happy to communicate with anyone wanting more information.Bye for now......FloGreetings from Canada. Received your mail, thanks. In response to your question, yes feel free to share whatever info you wish with the other NOMID families.
I'm happy to hear your son is doing well & enjoying himself in school. In the early years, Marcia struggled to keep up, and it became obvious early on that she was not learning as well as the other kids. You know what they say, you learn to read til grade 3 and then you read to learn. Well that didn't happen with her & when I approached her various teachers with my concerns I didn' t receive much support. In the Canadian school system, there is a reluctance to hold kids back because the feeling is that kids do better staying with their peers & that if they didn't "get it" the first time around chances are they won't do any better in the second try. I eventually hired a private tutor which did help significantly. In spite of that, Marcia still lagged a little more with each passing year. It wasn't til she had an assessment by a psychometrist & IQ testing which indicated her learning difficulties that the school system began to work with her. She was placed in special ed classes & given individual help. She was allowed to drop French which is mandatory here, by grade 6 & later dropped math after grade 9. The result is that she will graduate with a high school diploma but a modified one.
It has become obvious over the years that Marcia will have difficulty finding a gainful career not only because of her limited education, but also because of her fragile medical condition. Socially Marcia lives a pretty quiet life. She enjoys interacting with her classmates at school but doesn't do a lot outside of school partly because of fatigue & discomfort associated with the illness, but also because at 18 she is physically very different from her peers. Probably the most difficult time for her was from age 8 to 12 in terms of teasing & coming to grips with the fact that she was physically very different. Things got a little better after that. At this point in her life, she gets along well with adults but still has trouble with young children who assume she must be their age & don't understand why she doesn't want to "rough & tumble" with them.
Having said all this, I should tell you that Marcia has a delightful fun loving personality, quick to joke & with more moxie than anyone I know. That seemed to be a recurring theme as I read about the other kids in the group. People who know Marcia love her & she enjoys being around others. She has just started a co-op program through school volunteering in a long term convalescent hospital & I expect she will do well there because of her happy personality.
I apologize for the length of this note but I wanted to give you a feel for what's going on with Marcia. She had the advantage of being put on Predisone early in life, allowing her to function to her maximum, but it also compounded her height problems. Those kids who start a little later probably will grow taller than her & that would be a blessing, but we made the best decisions we could along the way just as you all will with your kids. Wishing you all the best & bye for now......Flo
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Buhyan Kim
[from several email notes, Sept 2001]:
Buhyan was born on July 30, 2001. When she was born the doctors said she had high level of inflammation so she was hospitalized and injected with several different antibiotics.
The doctors couldn't find any infected area.(No bacteria was found.) But the level of inflammation is still high. There was slight pain in her left leg and disappeared. The symptoms why we are suspicious of NOMID are:
1) She has had rashes from the birth.
2) She had slight pain in her leg joints.
3) She had a seizure just once once; We thought she was dying. The doctors have
no idea about the etimology.
The doctors here are not familiar with this disorder. As the doctors said the antibiotics were not helpful we are trying to stop injecting them.
We will move our daughter, Buhyun, from the hopspital she is staying now to the one near our house this weekend. We chose a renound hospital away from our home to face efficiently with any emergency at birth.
Buhyun is in fairly good condition now except that she she has rash once in a while.Her activity is good and we notice that her emotional expression is developing. My daughter and my wife are still in the hospital in Seoul and I am here in Jinju in Southern part of Korea because I have my job here.
You can add any information about us into the site. I teach English at a private school. I am 35 years old and my wife is 31. WE live in Jinju, South Korea. Buhyun is our first child. Ken is my Emglish nickname; My korean name is Kim Il Ryong. You can call me Ken.
Buhyun's head was in upside position in her momuntil the last moment, so the doctor did c-section on 30 July, 2001 to deliver her. She was 2.6kg(about 5.7pounds) at birth. She had rash right after her birth with high level of inflammation and slight pain in her left leg.
I will let you know if there is anything noteworthy.
Alice Lieffers
Date:
Thu, 06 Apr 2000 10:20:09 -0000
From:
"Terry Lieffers" <terryl1000@home.com>
Reply-To: nomidsyndrome@egroups.com
To: nomidsyndrome@egroups.com
Sorry this has taken so long
Our daughter, Alice, was born in 1985 which makes her 14 years old.
At birth she was noted to have hives. She was put in isolation and a dermatologist was
called in. They had no idea what it was. Alice was anemic and by 6 weeks was a
€ 'failure to thrive' baby. She would not nurse and was supplemented with
formula. At 8 months of age she was diagnosed with arthritis in her knees. It was so
painful for her to
even sit up. She spent much of her time laying on soft pillows. Finally at 1 1/2 years our
pediatrician wanted us to go to Ann Arbor to the University of Michigan Hospital for
4 days of tests to determine if a diagnosis could be made. Well, 6 weeks later we
came home.
They did diagnosis her with NOMIDS. The doctors had never seen anyone with it before
but did enough research to be able to name it. She also had a gastrostomy tube put in and
a Nissen wrap (tightening of the top of the stomach to stop vomiting ) which as such
a relief to us all because she would not eat and what we did get down her she threw
up. Alice is still being followed by Dr. Barbara Adams, her pediatric rheumatologist
at the University of Michigan, in Ann Arbor. I have given her the link the
e-group.
When Alice was about 3, we heard of a Dr. Dent in Canada that had a
couple of nomid patients. We went to see him and met one of the
patients (Marcia). There is a researcher in Canada that has found a
gene in Marcia that was damaged that had a role in he production of a protein involved in
inflammation. Here is what he wrote to me in Sept 98:
'We are looking at the cytokine profile of 2 patients with NOMID
and have found that there is an abnormality in the gene for one of the
anti-inflammatory cytokines (cytokines are the regulatory proteins, like
hormones, of the immune/inflammatory system. I can not be more explicit at
this time because the data are quite preliminary but hopefully within the
next few weeks we may be able to be more confident of what we have found. The
implications are that if there is a defect in one of these cytokines we can target our
therapy more knowledgeably, either to provide the missing or defective
cytokine, or to provide a product with similar
mode of action or eventually to use gene therapy to correct the defect in
affected patients. Like all "breakthroughs" the interval between the
discovery and the application to the patient is intolerably long.'
He has not sent me anymore information. At this writing, I have
requested an update from him. I will forward anything he sends me.
I also gave him the link to the e-group.
We also went to see Dr. Daniel Lovell when Alice was about 8 years
old. He is in Cincinnati, Ohio and has treated about 5 children with
NOMIDS. He suggested we try steroids with Alice. We were never
encouraged to start them because of the dangers of
e side effects. For Alice it was very beneficial. Her first day on
them she came home and said, 'I'm hungry!'. She had
never said those words before. She had her g-tube taken out when she was 6 1/2, was eating
on her own but not gaining much weight.
Eating finally became fun for her. Just this past January she was
weaned completely off her pediapred (steroid). Since then we have
noticed her hives and headaches have increased, her hearing has
decreased, so Dr, Adams started her up again on Pediap d 5cc every day for 1 month then
every other day.
Alice was anemic for many years and needed iv iron shots. At one
point she was given a transfusion from her mother and since then has
not needed any iron shots or suplements. She is still on the low side of iron
content but not off the chart.
Alice has a hearing loss and has worn bilateral aids since she was about 6 yrs. She
also has learning disabilities. She spent her elementary years in a wonderful
school which had 'Team Taught' classroom. They consisted of Special Education kids and
regular Ed kids, with a Reg Ed teacher, a Special Ed teacher and an aide. She is now in
Middle school in a Special Ed assroom, doing well. The teachers help her to meet her
potential.
Alice walks around the house on her own, but out of the house she
usually uses a walker. On long walks, she needs a wheelchair.
I will add more as I think of it.
Terry, Camille and Alice Lieffers
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Holly Lim
----- Original Message -----
From: Steven Lim
To: nomidsyndrom@egroup.com
Sent: Tuesday, February 08, 2000 8:58 PM
Subject: Holly
Hi Jim & Sherri .
Lovely to receive your e.mail . Miranda and Holly have a lot of the same problems,some I
have shortly to face. She to was born early at 31 weeks weighing 1pound 10oz, and
like Miranda she to was in I.C.U. for 3 1/2 months,they did not no what was wrong with
her. Holly was in and out of Hospital un till she was 9 months only because i insisted
there was some thing wrong with her, they kept telling me her problems were due to her
being prem, and said she was not in pain as i kept suggesting. She had test after test,
until finally they refered us to Great Omond Street Hospital for sick Children where she
was diagnosed and put on medication with in 3 weeks. It has been very hard as you are well
awhere,
Holly also has very poor vision, she cannot here well,has kidney problems high
blood pressure meningerial symptoms arthritic knees and wrists, she walks very little with
the help of an aid. We are now facing the feeding problem up till now
she has feed on baby food and peadiasure orally but as a result she has lost her teeth
through decay, she now dose not want to eat any thing only the peadiasure, so they have
suggested a G-tube to save the stess, i don't really want a G-tube but for the sake of her
next set of teeth i don't no of another option. I have always worried about her
weight she to only weighs 20 1bs but it seems to be part of there world,
Holly goes to nursery 4 days a week and she really enjoys it, she is a lovely
but in many ways still a baby.Holly takes quit allot of medication predndisolone for the
inflammation acesetazolamide for the fluid on the brain,frusamide for her kidneys,sodium
bicarbonate,folicacid,abidec,and nifedapine ,once a week i have to
inject her with methatrexate.Dose Miranda have to take much medication, i would love to
here more from you and i think starting a web page is a great idear i have no idear how to
go about it, but i would be there with you with a little guidance.
I will write to you in more detail soon, i am so happy to hear from you, and look forward
to hearing from
you again.
love and best wishes your friend Melhoney.
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Charlie Moore
Hi All,
Our son Charlie has been diagnosed with CINCA Syndrome by Prof Woo at Great Ormont St hospital. However after reading some of your stories on the web site he seems to be quite mild. He has a new mutation in the gene (whatever that means) and so far he seems to just have the rash. He was born on 1st July 02, so is just 14 months, full term no abnormalities at the birth. His rash came up after 4 days, and we just got a diagnosis in May this year. We live just outside London, and blood tests for both my husband and I have just been taken to see if we have it too.
Why am I here on the web writing this?? I think I just need to talk to people in similar position, and find out things like, did your children have the MMR ?? were there any effects from the MMR ? are there certain things that the children react badly too, ie allergic reactions ?? Are siblings effected, or can you have other children that wont contract the gene. Charlie at the moment seems ok, his eyes are normal, hes having 6 monthly checks and is on a small dose of antihistamine. But we dont know what he will have in store for us as he gets bigger. Lets hope he stays smiling as much as he can. Teething seems to make him worse, does any one else find this too ??
Anyway, would be great to hear from you,
Love Karen
(7 Sept 2003)
Eline Noordhof
| From: Gerard Noordhof <gerard.noordhof@j...> |
| Date: Thu Mar 2, 2000 3:07pm |
| Subject: Introduce Eline to All of you |
| Dear Friends, First of all I like to thank Kate and Sherri for organizing this E-mail box. But first I like to introduce me and my family (especially to the
new-comer’s) Eline was diagnosed with CINCA in (only since) June 1999. Shortly after that, we found Sherri via the Internet with Miranda. We have heard and read much information about it now. Many of the stated symptoms are familiar to Eline’s case. Eline’s first hospital visits started after 6 days after birth and a normal pregnancy. The first illness was a staphylococci infection on her leg skins. It took 3 week to recover. Nowadays we know that it is part of the CINCA syndrome. At hospital we first saw how she needed intravenous medicines and a feeding tube. After this we tried at home to feed and comforting her, but it wasn’t going well. Often the milk was vomited and she couldn’t prosper. So, in the 4th month we came back in our local hospital. Although her CRP-values
were very high, the doctors couldn’t find out her illness. They even nuclear label
the granulocyten, but no local hot spot was detected. We turned over to the
Children’s Hospital WKZ, were she had to undertake many researches. At the end of her
first year her diagnoses was definite as a “Chronic Granulocyt Malfunction”. In
our case this means that her defense system by the granulocyten, is not acting effective
to infections or During this period the feeding was completely taken over by a stomach tube NTG. Also the first signs of swollen joints at her right wrist and both knees occur. She had often-skin rashes with mainly red colored spots on her legs. After using a very new method we measured also a very high-energy consumption (by Calorimetric analyzing of her breath). There after we switched to feeding with high caloric milk at a high dosing rate of “Nutrison pediatric High Energy”. Half way her 2nd year they tried to analyze the unusual swollen bone in her knee and they found, a high level of leuco-cells, but no infection cause. We noticed often an inconstancy body temperature or even heavy sweating at head and body. During this year we had al lot of pneumonia, once it happened to combine with a
malfunction of her kidneys. It ends up with a fully take over by a breath machine to feed
her with enough oxygen. After 3 weeks and a light recover, we tried 4 times to extubing
her. After this period she did quit well during almost her 3rd year. At the end of this
year, the same combination took place again and the doctors analyzed her lungs at the
operating room. On the ER table her hart stopped. Direct reanimation was successful and
they found out, her hart was very bad conditioned; hardly contracting and swollen like an The feeding tube she overcame at the summer of 1997. She had no physical or medical problem that unables her to learn it. Guided by a very good psychological EATING TEAM at the WKZ, now can basically eat everything by her self. She likes to eat savory food and has still difficulties with fibrous part like chicken, mead and so on. During this period she started to exercise her body at a revalidation center. Especially we tried to get more movement in her knees, extend it from her max. 120° to more. No result came out. One year ago Eline was operated to correct the maximum angle of her knees, by reconstruct the bone shortly above her knees at the upper leg bone. Now she exercises to walk in a swimming pool with her legs straight at 160°. She can support her transfers by her legs and walks shortly with a rollator. Eline had becomes skin rashes with more and heavier spots over the last two years; like arms and lower belly as well as her legs. They even are filled with fluids. They dry-in after a view days or so. She also gives signs of pain at her skin. To prosper well, she is receiving since long time ago Tolectin pain reducer (used for many arthritis patients JRA). This summer Eline saw hospital again, for an inflammation of her kidneys and bladder. First we did fight it by antibiotics but more successful was starting higher doses of prednisone. After this period we decided to use (discontinuously) the feeding tube again. Basically, to keep her energy intake okay, as well as keeping enough flow over her kidneys; to keep them clean as possible. After the confirmation for CINCA in June last year, they examined more details
at Eline. most of the CINCA symptoms mentioned some characteristic resemblance with
other kids (like, head enlargement and saddle back nose is corresponding to Eline’s
situation. Also flare-ups with or without fever, splenomegaly and adenomegaly has
notified. Beside this medical history, she was mentally capable for a more normal
development, but had missed too much during her early childhood. Even now at just 7 year
and 2 years school, we still need some special guide to get a better balance in her
development. Till today we try to keep her, with the wheelchair going to a normal school,
although it is sometimes a struggle for her as well as the teacher and advisor. Especially
after she stayed in hospital, a return will be hard to catch-up. Best wishes from your friends in life |
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Maxwell Okazaki
| From: Belinda Okazaki <belin@b...> |
| Date: Sun Mar 5, 2000 9:54pm |
| Subject: maxwell's story |
| Hello folks, Special thanks to Kate, John, and Sherri for taking the time to set up this very much needed web page. My husband, Derek, and I have wanted to correspond, meet, and/or communicate with other parents who have child(ren) diagnosed with CINCA/NOMID. Our only child, Maxwell is almost 2 years old. He was born on March 27, 1998. Maxwell was diagnosed with CINCA/NOMID after a 20-day stay at Children's Hospital Los Angeles (CHLA) when he was 18-months old. My pregnancy was "normal" and everything seemed fine. (At the tail end of my pregnancy, I became a bit lactose intolerant. I still am lactose intolerant. I recall another mother stating something about this as well. I don't know if this is true of any other mothers). Maxwell was even given an APGAR score of nine. However, 1-hour later, the nurses said that Maxwell had developed a rash...which has plagued him everyday. We went to see various doctors who were not able to give us an explanation for the urticaria. The allergy scratch tests did not reveal anything unusual. Derek and I noticed that Maxwell was a little behind in reaching his milestones but we were not highly concerned. At our "well baby" check-ups, Derek and I would comment to our pediatrician about his seemingly large head size. She would jokingly just say that Maxwell had a lot of brains. Maxwell was also diagnosed as being anemic. The hematologist made a comment regarding Maxwell's large head size and wanted our pediatrician to track its growth. Eventually, we went to see a neurosurgeon at Children's Hospital Los Angeles (CHLA) who felt that the brain CAT scan was within normal range. Maxwell, never crawled on his hands and knees, instead his mode of transportation was to scoot on his bottom. Finally, Maxwell began cruising around, but when he was about 16-months old, he began to limp. He would not put his full weight on his right leg. At times he would refuse to walk completely. We went to see orthopedic doctors who were not able to diagnose Maxwell's source of pain. One doctor decided to have a blood test performed, the results showed a high white blood count. A bone scan was performed on Maxwell's entire body, which did not detect any abnormalities. In addition, Maxwell had a sinus x-ray, which did not reveal that he had any infection. So I had to ask why the high white cell count and no infection detected? What was the reason for the high white cell count? I had to ask the doctor this perplexing question. The substitute pediatrician (our regular pediatrician was on vacation) and another doctor saw Maxwell and thought that his right knee looked a little swollen. They wanted us to see a rheumatologist at CHLA. The rheumatologist thought that Maxwell might have Juvenile Rheumatoid Arthritis (JRA) and put Maxwell on naprosyn to see if it would help relieve any pain and/or stiffness that Maxwell might be experiencing. In the midst of coming up with "no answers" from the orthopedic doctors, my husband and I were wondering if the issue of Maxwell's leg could be a neurological problem. I asked my pediatrician; she did not think that it was a neurological issue. However, (and thankfully) For some reason she decided to have Maxwell's hearing and eyesight tested. (Maxwell was not talking yet. perhaps that was another reason why she decided to have his hearing tested). The audiologist felt that Maxwell's hearing was within the normal limits. At that time, Maxwell may have been a little sick so he disregarded the slight abnormality test result of one of his ears. When we went to see the ophthalmologist, he noted that Maxwell had papilledema. The next day we were sent to see the neurosurgeon at CHLA again. He, in turn, sent us to see the neuro-ophthalmologist at CHLA the next morning. The neuro-ophthalmologist had us admitted to CHLA that day. At CHLA, doctors from various disciplines came to poke and probe Maxwell. Maxwell had a few lumbar punctures (LP) which revealed that he had pressure in his spine and in the cranial areas. The spinal fluid seemed to have an unusual amount of white cells. We were also informed that these white cells were not the normal white cells that might be found in the spine. After a somewhat extensive work-up, they all gave up and were not able to give any answers as to Maxwell's paradigm. At that point, they decided it was more important to control the symptoms rather than diagnose or label Maxwell's condition. For 3 days, they gave him solumedrol via an IV. After that, Maxwell's treatment would include taking: Prednisolone (4.5 mg) 2x a day Naprosyn (3cc) 2x a day Zantac (1cc) 2x a day While we were still at CHLA, Maxwell began to walk again! It was a blessing to see him up and about! :) After Maxwell's symptoms seemed to be in control, our rheumatologist wanted to introduce neoral (.3cc) once a day. We were hoping that the neoral (neoral is typically used in higher doses for kidney transplant patients to help stop rejection) would one day take the place of the prednisolone. Neoral is supposed to have less negative side effects than the steroid. The rheumatologist and the neuro-ophthalmologist were pleased with the way Maxwell was responding to the medications. The papilledema was gone within 10 weeks. (PTL)! Maxwell was able to reduce the prednisolone (4.5mg) to once a day only. Hopefully he would start to grow and get some height. He definitely has the steroid tummy! (And cheeks too!) For the last couple of months, Maxwell has remained at ~31 inches tall. A few weeks ago, we tried to reduce the prednisolone again to 3mg once a day. However, after only 2 days, he was limping and refusing to walk. We had to increase the prednisolone back to 4.5mg. In addition, we increased the naprosyn to 4cc in the morning to see if it would eliminate the limping. He did seem better, but he still had a slight limp. A couple of weeks ago, we tried to reduce the prednisolone to 3mg again. The reason we tried to reduce the steroid again was because we wanted to give Maxwell's immune system a chance to fight against his illnesses. (Actually, Maxwell has been sickly since the beginning of December. We must have already given him 4-5 different antibiotics; none of which have seemed to clear him up. In January, we even had to take him to emergency because we were not able to control his fever. They took chest x-rays and informed us that he might have the onset of pneumonia). We were hoping that the increase of 1cc of naprosyn would help keep things in control. However, by that same afternoon, Maxwell was limping and refusing to walk. The next morning we had to increase Maxwell's prednisolone back to 4.5mg. Eventually, he seemed "better" but he still limps, some days were worse than others. For a while, it looked like Maxwell was limping even more than before. Consequently, our rheumatologist wanted to modify his current medications by increasing the neoral to .2cc 2 times a day and increase his naprosyn to 5cc in the morning and keep the 4cc in the evening. Maxwell's steroid dosage could not be increased since he had already been struggling since the beginning of December to get rid of his cold. (We understand that steroids suppress the immune system). Although Maxwell has been sick off and on since he was about 5-6 months old, it seems that lately he has been getting more sickly, unable to get rid of his colds/sinus infections. In the past, Maxwell has had to use a nebulizer with albuterol to help clear up/loosen the congestion. Recently, Maxwell's pediatrician decided to send him to see an ear, nose, and throat doctor (ENT). The ENT felt that Maxwell should have ear tubes inserted. When I mentioned this to Maxwell's rheumatologist, she wanted Maxwell to get a second opinion from a CHLA's ENT. After taking x-rays, the CHLA's ENT noted that Maxwell's sinuses were all blocked. He suggested a more preferable treatment to get rid of the sinus infection. Currently, Maxwell is taking an antibiotic, vantin, to help clear up his congestion. If this does not work, the plan is to have his sinuses flushed. Our understanding is that Maxwell will be given a general anesthetic and then the ENT will insert a needle into one of his sinus areas to flush it out. He said that if Maxwell's adenoids look unusually large he would cut them. He will check to see if his ears need draining, if they do, he will poke a hole to drain them. Hopefully Maxwell will not need to have tubes put in but it seems like only time will tell. Do any of your children have sinus problems? Maxwell's doctors: Dr. E. Shoji (pediatrician) (310) 316-6820 Dr. B. Shaham (CHLA--rheumatologist) (323) 669-2119 Dr. M. Borchert (CHLA--neuro-ophthalmologist) (323) 669-2347 Dr. S. Koh (UCLA--neurologist) (310) 825-6196 Dr. R. Ferdman (CHLA-allergist) (323) 669-2501 Maxwell also has high cholesterol. We found out that he had cholesterol just after he started eating table food. His table food consisted of chicken, rice, vegetables, cheerios, and fruits. We don't know if this is part of the CINCA/NOMID syndrome. We heard that steroids could cause the cholesterol level to go up higher than normal. Do any of your children have high cholesterol? While we were at CHLA, Maxwell was assessed as being developmentally behind. Since then, we believe that he has improved. When Maxwell was 1-year old, we began to teach him some words in sign language to help us communicate. He learned the sign for 'please' in about 1˝ months. We found signing to be helpful. Maxwell does seem to understand what we are saying but he doesn't use his words as much as we would like. Currently, Maxwell is attending an early intervention program 3 times a week (12-3pm). At the school, he does work with speech, physical, and occupational therapists but not on a one-to-one basis, unless he happens to be the only student that day. He is supposed to get individual therapy from speech, occupational and physical therapist for 1 hour each week. We are waiting to get individual therapy from speech and physical therapists. It seems that the demand is high for these therapists. Maxwell just started getting individual occupational therapy 3 weeks ago. Maxwell's rheumatologist has just informed me that the CHLA's allergist who saw Maxwell is intending to use him as a case study in an allergy journal or report. In this way, perhaps other allergists who have been or will be confronted with a similar type of unexplainable urticaria will be aware of the CINCA/NOMID syndrome. Hopefully, this new knowledge may help doctors to diagnose other CINCA/NOMID cases more quickly, hence, allowing intervention at earlier stages. This may also help introduce this terrible syndrome to other doctors as well. Hopefully, soon, more doctors will become interested and may want to do research on finding a cure for our children. We were wondering if any of you could give us some insight as to how rapidly or what the time span is for the progression of the CINCA/NOMID? Also, have any of you seen a geneticist? We saw a UCLA geneticist who did not feel that this is a genetic issue. However, since our visit we have learned that there are some cases where there are two family members with this syndrome. Have any of you heard an explanation for this if it is not genetically linked? In one article, there was a father and a daughter who had CINCA/NOMID. The father is the oldest CINCA/NOMID person that we have heard of. I hate to be morbid, but have any of you heard what is the life expectancy for this syndrome? If there is any additional insight that you can give us, we would appreciate it! We trust that you all are enjoying every precious moment with your child(ren). Continue praying for our little angels! God Bless you all! Derek, Belinda, and Maxwell |
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Lee Parker
My son Jonathan Lee Parker II (goes by Lee) was born on January 12, 1992 at Memorial Mission hospital in Asheville, NC. He weighed 10 lb 3 oz at birth, had a 15 inch head and 15 inch shoulders. He looked like a toddler compared to the other babies. My pregnancy with him was normal. The only complication I did have was that he came out face down, so that made my labor last longer. Everything was normal at first, so we went home. When he was three days old, we noticed his pointer and ring fingers on both hands were swollen and red. Also, his second and fourth toes on both feet. So, he was hospitalized and they started him on antibiotics. After he was hospitalized, his rash appeared and he has had it ever since. They kept us at Memorial Mission for 2 weeks with no results. So, they transferred us to University of North Carolina - Chapel Hill. There, they put him on more antibiotics which still didn't seem to help. After 2 weeks there, his swelling went down so they sent us home. No diagnosis at that time.
Then, when he was about 18 months old and began trying to walk, his right knee flared up. At that time, they diagnosed him with JRA. So, they treated him for that. They put him on Motrin and Naprosyn but his stomach would not tolerate both medicines so they put him on Naprosyn only, which is what he has been on since. He takes the Naprosyn twice a day. His right knee still flared quite a bit but it was the only joint affected until a few years ago. It has since spread to his left knee, ankles, wrists, elbows and most recently his shoulder. Last fall, his rheumatologist at Chapel Hill, Dr. Leonard Stein finally diagnosed him with Nomids. The reason that he had not come up with that diagnosis until then is that Lee is developing normally mentally and he does not have the digestive problems, so far. He basically does not have the central nervous system problems. Other than that, he has all the other symptoms including bony overgrowth of his right knee that is not typical in JRA.
The only other complications that he has had is that his right leg has been longer than his left, requiring him to wear a lift of 7/8" on his left shoe. However, he broke his right femur last June and since then, seems to walk better without his lift. His orthopedic doctor used an external fixator on his leg and it has healed well. The break was in the middle part of his femur, so they said that should not interfere with his growth plates. But, his right knee has had so much activity that the growth plate in his knee is distorted. It has been since this injury that all of the other joints have become involved.
Dr. Stein thinks that we need to get a lot more aggressive now and I agree. I do not want his other joints to become involved as well. So, he referred us to NIH. We just got back from there last week. They are recommending steriods or prednisone. I am unsure of the side effects and need to know if there is anything else besides steriods or am I overreacting? That is our story up to now. We are supposed to be going back to NIH in a few weeks so that they can get some base tests done before he starts the steriods. They mentioned an MRI on his joints and a growth hormone test (?). After that, I guess we'll be starting the new treatment.
Last, but not least, I need to mention the other members of our family. Of course, there is my husband and his dad, Johnny. He also has an older sister, Jessica, who is ten (will be eleven August 8th). Finally, he has a younger brother, Keith, who is eight. Both brother and sister are healthy. We live in a small town in North Carolina called Bakersville. We have lived here for the past six years. I am an office manager for a local home heating fuel delivery company and his dad works at the Ethan Allen furniture plant in Spruce Pine, NC (about 15 miles away).
I am sure that I have left things out but that is basically it. Again, I am very happy and relieved to have found this site. It has been extremely informative so far and I am sure will only continue to get better. I appreciate your obvious enthusiasm to get more information available. Thank you very much.
Gratefully Yours......Marie Parker
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Luke Parry
Originally a letter to Kate Barton, Aug 1997:
Dear Kate,It was nice to speak to you last night. I have been on my own for so long that it is hard to believe that there is someone out there who understand how I feel at times. I will give you a brief summary of Luke’s journey through this condition.
Luke was born at 33 weeks gest. And had difficulty breathing. He spent 4 weeks in special car on oxygen, antibiotics and IVI. When he was four weeks old he developed respiratory difficulty and his rash was very marked. I requested transfer to Alder Hey Children’s Hospital as the special care were not very concerned with Luke’s problems. I was told by the consultant that I had a little knowledge and was making problems that were not there, also that my babyt would be perfectly normal when he reached 1 yr old. With this support I demanded to be transferred which did happen when Luke was 5 weeks old. When I arrived at the children’s hospital they were appalled that my baby had not been sent sooner. At this time Luke had severe jaundice, respiratory distress and failure to thrive. He also had an enlarged liver and spleen.
The first diagnosis that was given to me was BILLAREY ATRESIS and as Luke was 5 weeks old the chances of him making a recovery without transplant were very slim. But all the tests were not conclusive. The next diagnosis was CYSTIC FIBROSIS. This was treated to the detriment of Luke who became very ill after two treatments. As Luke was not making much progress I requested a second opinion and as his liver problems were not improving and life with liver compromise is not feasible. Then I opted for the Liver unit at Kings College Hospital London. Luke was 6 weeks old by this time. The staff at Kings were very good. They began the repeat of all the tests again and found nothing wrong with his liver, which was good news but you can imagine not very satisfying as still no diagnosis. At this time Luke became very ill again and required intensive care for the second time.
We spent most of Luke’s 1st year at Kings with many doctors and even went to Great Ormond Street. At 9 months of age the diagnosis of C.I.N.C.A.S. was made, this only after the swollen Rt knee joint had developed. The condition was given a very poor prognosis but the consultant that told me about it said that there was not enough documentation to be conclusive so that we still did not have much hope. The time spent in London was very comforting as the medical staff were supportive and always had time to talk. It was hard to leave them and return to Liverpool. I felt so alone. Even my family at home had become distant. Not that it was their fault but I had been away for nearly 2 yrs by this time, not continuously, you understand, but each time we went to London for an appointment Luke would become unwell and we would have to stay for weeks at a time.
When Luke was 10 months he had a major arrest. This was due to his reflux which the Drs said he did not have but as you know mother does know better. So surgery for gastrostomy and central line feeding was performed, unfortunately due to the abdominal distension during the operation the surgveon punctured Luke’s stomach and a large hole was left, therefore not feeding was allowed. This was very traumatic as Luke loved his food. During the next twelve moths Luke had many respiratory problems requiring oxygen therapy and to this day he still has oxygen, sometimes 24hrs a day but mainly at night.
Luke’s physical needs are he cannot walk, weight bears movement is very restricted, he can shuffle on his bottom or roll only. We are trying to establish physiotherapy but this is very haphazard at the moment mainly due to funding and Luke’s chest problems. Education is another problem as Luke needs a carer to be with him at all times due to his oxygen requirements and medical needs, so he misses quite a lot of school. Even when he is in hospital the schooling supplied is very poor ant the mainstream children seem to benefit more. But despite all the problems Luke is a very bubbly little boy and quite a character and all who come in contact with him love him to bits. I hope you gain as much pleasure from Alex as we have from Luke, never a dull moment when he is on good form.
I shall introduce you to my family. The eldest is Anna. She is 20yr old and is trying for university. I am not sure in what, she keeps changing her mind. Karl is 17 yr old and at this present time is in the scond year of his A level education. I am hoping he is off to university either in the mathematical field or geography. And then there is Luke. I am from a large family myself. I have five sisters and three brothers. We are close and all keep in close touch, my mum and dad are very helpful as they visit every day when Luke is in hospital.
I am a RCN and have been practising for the past 26yrs. I work on the largest intensive care unit in Europe that is solely for paediatrics. I love my work and at this present time I am in the middle of my BSc on Health and Social welfare. I hope to graduate to the community after this as I feel that when you are getting older the stresses that come with intensive care are a bit too much, and that the community is in great need of staff with experience in child care.
I have been trying to find you in the atlas but to no avail. Never mind, I will keep looking. I hope that we keep in touch and become good friends. I will close now as I have rattled on enough. By the way I am going to Florida in October with Luke. I do not know if the contact a family told you. I now that it’s a long way from you but you never know, we may meet one day. If you manage to come to England I will be willing to meet you if it’s at all possible. That will depend on Luke’s condition. Well, bye for now, hope to hear from you soon,
All our love to you and Alex,
Eileen and Luke
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Miranda Putvin
From: Sherri Putvin <mintcrik@zhighway.net>
Date: Thu Feb 3, 2000 9:32pm
Subject: Us too..
Hello, my name is Sherri and I have a daughter with this awful disease too. She will be 5
in May, she was diagnosed 3 years ago.
She was born at 30 weeks gestation, she was a twin, the twin died in
utero at 3 months. My placenta abrupted and Miranda was delivered emergency c-section. She
was then flown to Crouse Irving Hospital where she stayed for 3 1/2 months. She was
intubated the first 2 months and required oxygen all 100 days. While there she had 5 blood
transfusions,small cranial bleeder. They said it would not amount to much. She now has a
VP shunt to control her hydrocephalus. She became more sickly and daily high fevers were
occuring and a rash all over her body. Her lymphnodes were enlarged as well as her
spleen and liver. They did skin biopsies on her to find out why she had a rash. Never came
to a conclusion.
They removed large lymphnodes from her neck, then decided to do chemothereapy. 1
1/2 years later, never made a difference. She now
can not walk, has few words. Has a g-tube and is at 22 month level. She weighs 21 lbs. and
still wears size 18 month clothes. She is a beautiful little girl.
Dr. Goldsmith in Philadelphia, PA oversees her disease. He has provided some information. We still need all we can get, there are 50 children world wide with this, there is no known cause, no cure.
If you have any information or know someone who does, please contact us. In advance, Miranda thanks you. If you just want to talk please do.
Thank you, Sherri
Kerstin Rohland
Date:
Thu, 22 Jun 2000 21:49:10 +0200
From: fam.rohland@t-online.de
Reply-To: nomidsyndrome@egroups.com
To: <nomidsyndrome@eGroups.com>
Hallo everybody,
it is a problem for us to read all the mails in english and to
understand the special words and the short cuts. So we need some time to read all the
mail. At first we are: Kerstin a 13 years old girl with CINCA- Syndrom since her birth in
a light kind but its hard enough. Dominik her 10 year old brother. Birgit and Kai the
parents 33 and 35 years old.
At the moment her illness standstill, so we hope that one off her knees would be
operate at the september this year in Aschau/Chiemsee bei Dr Correll.
She is sitting at a wheelchair since 2 years, because her mechanik in her knees is
interruptet.
In Oktober 1998 she became trouble with her kidneys and the funktion was under
20 %. The Doktor's mean it came from the permanent inflammations. The therapy was at
the beginning with a short high Cortison puls infusions therapie and than 3 intravein high
dose Endoxan short time therapy. No one has thougt that after this
the result would be so good, her kidneys have a funktion from 80 % now. She must drink
every day 1,5 l better more about to hold this result. It also good for her headache that
she have had often in the night.
She became a medicine to push she up like doping because her Hb is
to lowly. Before this therapy it was only 6 and now her Hb ist 10 -11.
The name is Neorecormon (Erythropoetin) better acquainted with blood doping by bikers.
Every day she have 5 mg Cortison since her 4 birth, Imurek (Azathioprin) and to protect
her kidneys Lopirin Cor because her blood pressure was to high.
The beginning of our history with Kerstin, inflammation of the eyes,
the problems to walk,many reside at hospital to find her troubel maybe later. Nevertheless
in this moment she is playing with the neightbour kids. Sometimes she puts a
scateboard and is driving around at her bottom. She have a scooter with a seat but she
doesn´t like it. Her behaviour is like a joung lady and so she have many grumbling with
her mother.
In summery we are hopefull for the future.
Birgit und Kai Rohland
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Clare Sammé
-----Original Message-----
From: Clare Sammé [mailto:csmiley16@hotmail.com]
Sent: Monday, July 01, 2002 1:32 PM
To: jkbarton@ix.netcom.com
Subject: CINCA website
Hi, my name is Clare and I have just visited your website on CINCA and thought I would drop you a line.
I am 21 years old and have had CINCA since birth. I live in Bedfordshire in the U.K.
Although I have many of the common symptoms of CINCA I am fortunately not affected by it mentally. I was finally diagnosed at 18 months of age after many months of visits to the doctor. I would not weightbear on wrists and knees and would break out in a rash all over my body every evening. It has been quite stable over the years with very few hospital admissions, although my condition has gradually worsened over time. I had both hips replaced 6 years ago and will be getting my knees replaced in August this year. My growth has been severely stunted due to the CINCA itself and the use of steroids. I do need a lot of physical help with day to day things but try to live as independently as possible by holding down a full time job and passing my driving test. I live at home with my parents and younger sister (she is fit and well).
Anyway, I thought I would drop you a line to say hi and to invite anyone who is interested to email me. I know it can be very scary when a young child is first diagnosed with this as it is so uncommon and parents may feel the future ahead is bleak. However, I just want to say it doesn't have to be like that!
I hope this helps, please feel free to ask me anything at all about my CINCA and how it has effected me and my family.
Thank you
Clare
***************************************
Hello Clare,
Thanks for your email, just saw it. I think this is the first time we have had someone with Cinca, rather than a parent, contact us, so we were thrilled to read it. A million questions, thanks very much for offering to answer any. First, just thinking of the others in this small network:
Can we forward your letter to the nomidsyndrome group, a yahoo group that various patients and doctors around the world subscribe to (nomidsyndrome@yahoogroups.com)? Sounds like you are OK with that.
Do you mind if we post your account below on the website, under the Stories page?
Feel free to send any photos, hardcopy of digitally, and I'll post them on the Photos page. Some people are only too pleased to, others prefer not.
And we love to celebrate birthdays on the home page as you may have noticed. Looks like we are too late for your 21st (Congratulations!). Anyway, we could post your birthday, together with location and email, as we do for the others on the Contacts page.
Anyway, thanks so much for getting in touch. I'm sure the other parents will have many questions to ask you. Kate (my wife) has a few questions already:
- have any relatives had cinca in the your family?
- what medicines are you taking and doses? Which, in your opinion, are the must-have ones.
- we worry about Alex's stunted growth (he's 6 now) as he ages. What was it like for you and your parents as you went through childhood, with friends, at school, out in public, etc?
That's enough for the moment but very nice to hear from you. By the way, Kate and I are both English as well, although we have been in Houston for 9 years and are more or less permanently settled here now. I last lived in Hemel Hempstead, Kate is from Suffolk originally.
John and Kate Barton
***********************************
Hi John and Kate, thanks for getting back to me. I'll try to answer as many questions as I can for you in this email.
It's fine for you to put my letter on the nomid syndrome group. I did have a quick look myself there but wasn't really sure what I was meant to do!!
I would like you to also put my details on the contacts page. Clare Samme, 16 September 1980, parents are David and Anne Samme, Bedfordshire,uk, csmiley16@hotmail.com
I have tried to include a photo of myself which was taken this year on holiday. If I find any that show my rash as a youngster I will have to send them to you (I know the doctors have a few as they like to show them off!)
Nobody else in my family has ever been known to suffer with any form of arthritis let alone CINCA.
Although I have been used as a guinea pig to try various medications there are only a few which I can say had a noticeable effect. I am currently on Methotrexate, voltorol, zoton, prednisolone and atenolol (they have recently discovered I have high blood pressure but as yet have not been able to find the cause.) I am only on 5mg of prednisolone alternate days and have been on this low dose for quite a while. I have taken this since I was a toddler but they don't really want to risk taking me totally off it. I think I would say that the voltorol is the one I find most pain relief from and on bad days I take co-codomol. I took naprosyn too for many years before they put me on voltorol when I had my hips done. I was also subject to growth hormone injections for about 8 years - there wasn't a great change on this only a couple of inches really. (I am now 4 feet 4 inches).
I do sometimes get down about my height but I think it affected me more when I was younger or maybe now I'm just more accepting to it. It can be very frustrating when shopping for clothes as at my age it's not really the "in thing" to have Barbie written across a t-shirt! It can also be very intimidating when people assume they know how old you are and talk down to you. I have probably reached my maximum height and although I would love to be taller it's certainly not the be all and end all of life.
Anyway, I have to go for now but I hope this has helped.
Hope to hear from you soon
Clare
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Fynley Smith
This is the story so far of Fynley Smith who was born on the 7th of April 2004 he is now 17months old and it already feels like he has had more things to deal with than one person would have in a life time.
My name is Lisa and I am mum, Colin smith is Daddy and Harrison is Fyn’s big brother and Isabella is Fyn’s big sister, izzy is 7 and Harri is 9, and both are healthy.
In my third trimester of pregnancy I felt very ill and was in a lot of pain, however nothing was picked up and the pain in my tummy and back was put down to my arthritis.
Fyn was born by cesarean section, which was my third, on the operating table I knew that there was something wrong as it was taking a lot longer than my two previous sections. It turned out that I had an infection and my uterus and bladder had fused together. When Fyn finally come out he looked extremely premature. He was meant to be 38 weeks but looked more like a 35/34 week baby. He was grunting and cold and after an hour or so they took him away as he wasn’t breathing properly, but bought him back after blood tests and anti-biotic. He then settled down and seemed normal, started feeding etc… My urine come back that there was an infection and I was put on anti-biotic. 24 hours after fyn was born I had a very strange mark come up on my stomach that surrounded my belly button and was black in the middle and then very red which covered a large part of my tummy. The doctors did not know what to make of it and drew a pen mark round the outside to see if it got larger or smaller, it slowly faded away and after four days we both went home. Things seemed normal until 2 1/2 weeks later when we found a rash all over fyn he seemed hot, we took him to the local A&E for a check up who admitted him for observation, after 4 hours he was diagnosed with eythema toxicum and sent home. The next four months sailed by with no hiccups and Fyn seemed the model baby weaning well and only had a few times of unwell with little coughs and colds. In September things started to change and the first thing that happened was he started screaming in the car seat, and could not be pacified when we got him home he was still the same and after a while I noticed that his left leg was completely swollen and very red from the top of his thigh to his calf. I rushed him round the doctors who said he had been stung or had, had a reaction to something. Fyn seemed to go down hill from then, but obviously at the time we had no idea and thought he was just having a bad run of infections. The whole of September he had a number of high temperatures along with flu like symptoms and rashes that were all over his body documentation of these rashes can be seen in Fyn’s medical diary. We took Fyn to the doctors and pharmacies on a number of occasions in September, to try to get diagnosis’s on rashes and illnesses with this extremely high temperature. Each time it was put down influenza, ear infections and the rashes were excma, dermatitis or teething etc… Until October when things got worse, it has all been documented in Fyn’s medical diary that I have kept for reference and have decided to put in to his story so it gives the clearer picture.
FYNLEY SMITH
MEDICAL DIARY
This is a medical diary of Fynley and his symptoms; Fynley fell ill in September 2004 and has had a number of symptoms which have all been documented in this diary along with the hospital visits and events that have occurred in the past nine months.
SYMPTOMS
- Spiking temperatures (highest recorded 40.8) (lowest recorded 34.2)
- Rigors and 1 fibril convulsion
- Meningitis
- Pneumonia
- Rota virus
- Odd rashes, That would appear and disappear all over his body
- Loss of appetite/ does not eat food at all
- Joint swelling, of knees and elbows
- high inflammatory markers the highest recorded WCC 30.1 and CRP 186
- He also has obvious joint pain in neck, right arm, wrist and shoulder, head.
- He has had a rash that has traveled around his body, from his elbows to his knees, back of legs, back and face.
- And rashes that have been persistent round the neck, shoulders, ankles and legs
- Strep in his throat
- Oral thrush and ulcers
- Acute pain (from unknown internal source)
The episodes always seem to follow a pattern which is:
DAY ONE one episode of diahorea, and then that night would start running a high temperature that we would treat with paracetemol and nurofen, at first the temperatures would make him vomit his milk He would always get an isolated rash on he’s right collar bone that would go deep red and look like he had been scolded, this mark would always go away as he got better and started becoming an indication to us as parents that he was going down hill again, he would also have rashes that appeared under his chin round his neck, back of his legs and ankles.
DAY TWO Spiking temperatures of (40) with rigors (which is shivering and feet and hands go blue, chin chitters) he would be whimpering and often seemed to have flu like symptoms with a clear runny nose and hurt when moved around. His temperatures/ rigors and obvious discomfort would always end with us having to go into hospital with him, where his bloods were taking and he always had high inflammatory markers. At night he would seem to get worse and would only sleep for 1/2 hours at a time, it seemed that this was due to pain from an unknown source.
DAY THREE His temperatures would still be high (39) rigors were less but still in a lot of discomfort, with flu like symptoms and pain that went on through the night
DAY FOUR the spiking temperature would become less frequent and the rashes would start to fade he would start to play a bit and look better
DAY FIVE the temperatures would fade away and normally is stopped by the evening.
Documentation of
Rashes:
- The most unusual rash was the one on his right collar bone that would really flare up when he was having an episode the rash was in the shape of a kidney and would look like a burn. The pediatricians at St Marys drew pictures of this many times and documented it in the notes and even wanted to do a swab of it to send to the lab, but as it wasn’t weeping they decided not to.
- The rash on his cheeks is the one that still shows itself usually when Fyn is on a downward slide to an episode, and it appears when he is also asleep.
- The rash under his chin was the one that stayed angry and very red, and was only suppressed when Voltarol was introduced.
- Odd isolated rashes in oval shapes that were scattered round the back of his neck, and also he use to get loads of red dots that were scattered
- A rash over the top of his feet, that Fyn would rub constantly through the night.
- Back of the legs very similar to round the chin and back of neck with lots of red dots and oval, and kidney shapes.
- Also the rashes that would appear and disappear and travel round his body.
- The rash that came when his joints would swell on his knees and elbows.
In January he stopped using his right arm and use to tuck it away like a broken wing he would use it only when really necessary, since he has been on Voltarol his rashes and arm symptoms have been suppressed quite well.
Fynleys many symptoms have varied but he has consistently from six months had high fevers, rigors, rashes high inflammatory markers and obvious acute pain, which is now believed to be sterile meningitis (inflammation of the meninges)
He has a number of blood tests, bone scan, bone marrow, kidney scan, 10 x-rays which have all been inconclusive at this point.
He seems to have a problem with his right upper side when having an episode; he has abnormal arm and shoulder movements, he twists his arm and pushes down on the back of his wrists, his posture changes and slumps forward to the right side, and seems in acute pain. In the last eight weeks Fynley has been having pain break through, through the night which are getting more and more severe, he can wake up to 10 times a night i.e. every half hour rigid and screaming in pain with his head locked back looking up, he has to be picked up and body rubbed and manoeuvred until he seems to relax and then is able to go back to sleep.
Fynley has been seen by a number of doctors, paediatricians and now is under a paediatric rheumatologist, Dr Hull, from the queen Alexander hospital, Portsmouth.
Dr Hull has studied Fynleys symptoms and has diagnosed (CINCA) Chronic, Infantile, Neurological, Coetaneous, and Articular syndrome. Which is a progressive multisystem inflammatory disease.
Fynley is acutely ill and when not in hospital still have a lot of problems due to pain from the irritation on the meninges, especially through the night, and very often has to have morphine to relive the pain. CINCA is a progressive multi-inflammatory disease that is very rare, Dr Hull is now liaising with Professor Woo in Great Ormond Street about the management of Fynleys illness, and Fynleys medical team are doing their very best to try to control the inflammatory and pain, as there is no cure, and it is progressive, with a variable long term prognosis.
.
Hospital & home episodes
listed below:
- 29/10/ 04 where he was treated for meningitis had joint swelling on day 3 of the episode, his WCC and CRP was very high.
- 20/12/04 and was treated for meningitis again his WCC and CRP was very high
- 02/01/05 same symptoms and high markers was not treated with antibiotics and returned to normal after following the same pattern
- 18/01/05 same pattern (pyrexia of unknown origin)
- 25/01/05 Rota virus
- 04/02/05 observation due to pain high and low temperatures (07/02/05 pneumonia and ear infection diagnosed)
- 19/02/05 same pattern of pyrexia but had new symptoms which are - obvious severe joint pain- rashes that moved around - very hot swollen joints (picture/video evidence available) Voltarol prescribed to use on a daily basis
- 04/03/05 same symptoms temps/rigors joint pain, flu symptoms/ rashes but did not take into hospital kept home and gave Voltarol 1 mg three times a day and paracetemol
- 31/03/05
rushed into hospital after rigors all day, that increased to become very severe, Voltarol
dose upped to 1.5 mg three times a day, oral morphine given on the 1st of April
for pain relief
- 13/04/05
went down hill rapidly and was in hospital within two hours of spiking
temperature and rigors occurring, was given oral morph for pain and 250ml of paracetemol,
Fynleys temp, was still 40 and heart rate 220 BPM. Doctors
have now decided he has cerible irritation, (meningism, sterile meningitis) which is
causing acute pain. Prescribed steroids on alternate day basis 10mls
- 04/05/05
spiked at 4.15am gave paracetemol 240mls and Voltarol went into hospital and spiked
again at 9.15am Temp 40 and heart rate 244 BPM. Was given morphine and more paracetemol at
10.30. 12pm Fynley had settled and had a relatively good night, normal drugs proceeded. Bloods taken for DNA CINCA test and inflammatory
markers, CRP was 120 went home that day.
- 18/05/05
woke at 12.30am hot, woke again vomiting at 2.30 spiked gave paracetemol 240ml and
10mg of Prednisolone, as advised by doctor hull.
Heart rate up vomited again at 4.00 am, woke at 6am screaming gave morphine. 7.30
gave Voltarol spoke to Simon Birch (pediatrician) for advice and at 9.30 gave routine 10mg
Prednisolone; He slept for 4 hours and then seemed more settled with his temp going to
34.5. Did not take into hospital. Please go to updated episodes.
UPDATED EPISODES, MEDICATION AND
PROGRESS OF FYNLEY
19/05/05 Fynleys rygors started again and spiked another temp was in obvious pain was given the extra dose of steroids, 250ml of paracetemol, usual Voltarol and due to pain morphine.
27/05/05 Fynley has been in pain every day at some point since his last episode which started on the 18th and has had to have a dose of morphine to help with the pain at various times through the day and night for the past 9 days. It has also been evident that his right hand has now took a different shape and seems to curl inward most of the time like he has some form of cramp, but it does not seem to bother him. He is also twisting when he walks. We saw Dr Hull and Dr Barker who suggested that the next time an episode start to give him steroids for five days continuous, to see if this helps. We also saw Jo Lewis the paediatric community doctor who is going to arrange for a MRI scan, as she suggested that he may be having spasms in the brain due to the inflammation.
04/06/05 Fynley has had another episode that started at 2.30pm with rigors as usual, we immediately started him on steroids as suggested by Dr Hull and will keep him on it for five days which is usually the length of his episodes before going back to his alternate day maintenance episode of 10 mgs of Prednisolone every other day.
11/06/05 Fynley has had flu like symptoms, and had a lot of diahorea for five days his temperature has been very low usually under 35.
20/06/05 Fynley started whimpering through the night on the 16th, on the next night the 17th he was crying in pain at varies times through the night, On the 18th he was irritable temp up to 37.1 and was twisting and pulling arms up through the day also pulling at his wrists, He started screaming with head locked back in usual position about 11 pm and that carried on through the nights at staggered intervals. The 19th Fynley was much the same all day and through the night he again awoke in extreme pain with head locked back could not be pacified and we had to administer morphine which quietened him down, but we could not lay him back in a sleeping position as he would just start screaming again, after two hours we decided to sleep him in an upright position in his buggy and he did manage a few hours of sleep. But awoke grunting and temp was up to 38.8 his heart rate was again extremely high, we gave him an extra dose of 10 mg Prednisolone and will now keep him on it for five days. He also had his usual Voltarol, which is every 8 hours and 250mls of suppository paracetemol for his pyrexia. He has been still pulling up with his arms, and whimpering through the day, especially when his Voltarol is wearing off. The weather is extremely hot and we are now wondering if when it is cold or very hot does it make him more uncomfortable, perhaps trigger more severe episodes.
09/07/05 Fynley quickly went down hill on Saturday evening with flu like symptoms runny nose, sneezing, miserable, obvious pain. He cried through the night all night temp was up to 37.3 vomited, 10/07/05 day he was extremely miserable didn’t want to be put down, (it was very hot) still with cold like symptoms, temp down to 35.5, woke only once in the night in pain. 11/07/05 miserable, temp up to 37.7 which also went up and down all day, 250 ml of paracetemol given, whimpered through the night. 12/07/05 woke early with shallow breathing temp up to 38.1, rapid heart beat, didn’t want to be moved around was given extra steroid, and 250 ml of paracetemol with usual medication, similar night. 13/07/05 Fynley seems a lot better today it was noticed that he had no rigors in this episode but hands have been curling up and the little fingers are now crossing over each other , he has now got thick green discharge coming out of his nose, and also thrush and ulcers in his mouth. His fortini and Nutrini feeds have been put up in strength and quantity to 1000mls a day due to his weight being static since April , but Finley’s intake per day varies from 400ml to 700ml pending on how he is feeling,
17/07/05 Fynley still has thick green discharge and noticeable discomfort in his hands that are still curling up, he whimpered and cried all night continuous and is evidently in a lot of pain he does not want to be put down. Fynley bucked up in the afternoon played and seemed happy, but vomited at night. 18/07/05 Fynley woke with thick green discharge pouring out of his nose and also both of his eye ducts it was quite constant he was also miserable again. Phoned the hospital for advice as hands are still curling up and we are quite concerned.20/07/05 Fynley eyes are steep weeping and his right eye is very blood shot. He is not himself and been crying in his sleep.22/07/05 Fynley is still the same, went to eye casualty who gave me some antibiotic drops 23/07/05 a lump in the right side of his eye has now appeared? And Fyn had morphine through the night due to severe pain.
06/08/05 Fynley started to show flu symptoms again, was extremely bunged up and coughing again. Could not sleep all night due to trouble breathing was very irritable and under the weather. His hands seemed to be very distorted and his temperature 35 or less he had cold sweats and was vomiting every now and then. These symptoms persisted through to Tuesday when I took him in to see the paediatrician Simon birch at St Mary's his temp was rising and he was very unwell. He had an extra dose of steroids, and paracetemol suppository 250mls. Feeding is not good and has been vomiting and gagging on bottles.
14/08/05 Fynley woke screaming in the night and screamed every 15 minutes for 3 hours with his head locked back we gave him morphine as a last result which helped. He has still had a cough and gagging on bottles and the vomiting seems to be sporadic but consistent but on going, and has even been vomiting up medicines.
18/08/05 Fynley is still under the weather with a cough, gagging and vomiting, sneezing and yellow mucus coming from his nose, on the 19/08/05 Fynley vomited 4 times and all the other symptoms persisted, was very restless coughing a lot and lethargic. 20/08/05 Fynley was very quite and snotty, woke in his sleep could not be pacified and screamed uncontrollably 21/08/05 Fynley vomited his first bottle and then went on to wake after his second bottle with coughing fits which made him vomit and then coughing and gagging in his sleep, nose mucus turned green. Took into hospital and put on co- amoxiclav (250mls) 2.5 mls 3 times a day for 7 days, symptoms subsided after a few days and he was also being monitored in hospital for intake of fluid and food as weight has been static since April, Fyn was discharged on the 25/08/05
16/09/05 Fynley went down hill on the 16th spiking a temperature of 38 .7 at 1am we immediately gave him 250ml paracetemol suppository, and extra dose of Prednisolone 10 mg, he vomited about 5 minutes later and was very distressed. We managed to get him to sleep about 3am in his buggy, but he woke at 4.45am screaming with head locked back in his neck, looking upwards, eyes bright red and he could not be pacified. We then gave him oral morph 1ml and after 30 minutes, got him back to sleep. He slept until 7.30 when he woke and had a temperature of 36.8, by 8am he was having rigors and twitching severely, his temp started to spike. I then gave him his maintenance Voltarol, 10mg Prednisolone and another lot of Paracetemol suppository 250ml’s. This kicked in and by 9.30 am he wasn’t too bad, I took him into hospital at 11 am when they tried to do his bloods but unfortunately was unsuccessful. After a sleep Fyn woke at 2pm and was still in a lot of pain so he had another 1ml oral morph. We managed to do his bloods at 4pm that afternoon. His CRP was 26 and wcc was 18.
20/09/05 Fynley had steroids at 2.00pm and had been ok in the morning, but spiked at temperature at 3.15 he was very hot hitting 40 which was unusuall as he had just had his steroids which is normally the thing that will dampen down the episode. I gave him 250 ml paracetemol and an extra dose of Voltarol, an hour later it had come down to 38 and then it gradually come down. However Fyn lay dormant for a couple of hours and cried if we tried to move him, he was very lethargic. He has also been waking up and crying holding his feet, he also keeps showing me his hands and crying and they are all twisted up, it looks like cramp?
CONCLUSION UP TO NOW
Fyn is now being seen at Great Ormond Street by Prof Woo who is running the CINCA trials in the UK for the CINCA children; we will be at the fever clinic in November, which is where the CINCA children are seen. We have been pursuing getting Fyn the Anakinra in this country, but Prof Woo has suggested we try Colchicine first as it has proved top be successful in some of the CINCA mild to moderate cases. Fyn started the Colchicine on the 23rd he is only having 250mg, for one week then it is to be increased every week until he gets to 1000mg if he tolerates it then we may be able to wean fyn off the steroids, he is on, however if it is not successful than he will then go on the Anakinra. We are waiting for the results of the MRI scan that was done on the 02/09/05; he had certain vessels checked in this scan and also his eyes under sedation. Fyn’s eyes and ears up to now have been fine and his mental development is advanced. Other new symptoms presenting in the last few weeks is him crying and holding his feet when he wakes up, as if in some sort of pain. Hopefully Fyn will soon be able to fell us where the pain is himself and what is going on, then and only then, will things for us be clearer.
My e-mail address is colinsmith25@msn.com and would be happy to speak to any one, who has any questions.
Best wishes to you all and a big thankyou to john and kate for setting up this very needed website. Lisa (Fyn’s Mummy)
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Phillip Wisniewski
From Kim Wisniewski [kalbert11@msn.com], 8 Feb 2002
My son Phillip is now 5. The day that he was born I noticed he had a rash. My ex-husband had this same rash his entire life. For many years as a child his parents were told that he had a skin disease called erythemia multiforme. He spent a lot of time in Hopkins. He suffered from heptaspleenameglia and meningitis. He had a spleenectomy at age 3. His stomach was so enlarged that doctors said that if he fell it would rupture and he would die. He suffered from swollen joints periodically.
When Phillip was about 7 days old his pinky became red and swollen. He went through blood test and ex rays. No conclusions. We were referred to Hopkins. This pattern continued for 2 years. He was seen by everyone. By this time 3 fingers on his hand were so swollen that he had no range of motion in them. It was concluded that he had "the same thing as his dad" (however we never were told what that was). By the age of 2 Phillip was not walking and could barely speak. He was never happy his first years, he cried all of the time. I decided to take him to an orthopedic hospital in Maryland called Kernan. I was beginning to think that he had Rheumatic Fever. He was also sent to see a neurologist. The orthopedic doctor sent us to see a rheumatologist named Stephan George. Two days later he saw Dr. George who diagnosed him with IOMID in 30 minutes. What we would have doen without Dr George, I don't know. I shutter to think what could have happened had we not met him. He started taking Naprosyn and 2 days later he walked. Until that time Phillip walked on his knees. He has been on Prelone for 3 years. He now has a somewhat normal life. We were hooked up with a headstart program and he was able to go to early preschool. His developmental delays have seemed to fade. He has exacerbations but now they are very managed. However I constantly need to be on red alert. A cold is very simple for me but very hard on him. I would like to see him off of the steroids but It seems to be a long process. He also takes methotrextate.
It is amazing reading the stories from some of the others on your site. All of the stories are similar. I wonder if anyone has the same instances...When we go to the Y and swim people always stare at the rash on his face, arms, and legs. I get a lot of "Oh does he have allergies, chickenpox or ring worm." he doesn't always have his rash but it is sometimes present. I will email you some pictures soon. Thank you for your site. I don't feel so alone in this. It is nice to know that there are others with the same problem.
Phillip Wisniewski
09/25/96
Baltimore, Maryland