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
Back to Top
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
Back to Top
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
Back to Top
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
Back to Top
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.
Back to Top
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.
Back to Top
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
Back to Top
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”
Back to Top
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.
Back to Top
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.
Back to Top
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.
Back to Top
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
Back to Top
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
Back to Top
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
Back to Top
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.
Back to Top
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 he |