Curious to know if anyone here has an IgE count greater than 13,000? My 8-yr. old daughter's count is currently 13,000. She was diagnosed with HIES (Hyper IgE Syndrome)as an infant and this is something that we've been dealing with ever since. She's got all the other markers of HIES so far....asthma, exzema, food allergies, high pallet, hyper-extinsible joints, arthritis, osteoporosis, multiple pneumonias, yeast infections, bad teeth (baby teeth won't fall out, discolored, pitted, crooked), migraines, RSV as an infant, MRSA with multiple boils (2 had to be lanced). She's had a feeding tube for 2 years due to eosinophilic infiltration of her throat, and whole gut. I've done lots of internet research on HIES and don't see very good pronosis' for this rare disease. It appears to have a high mortality rate. Yet, in all of the clinical studies that I've come across on the internet, none of those patient's IgE counts were any where near as high as my daughter's. I'm curious to meet someone who's IgE count is just as high and share notes regarding medical history to get an idea of what my daughter may be in store for in the long run. Any feedback is appreciated. Thanks!

Hello Jack,

I have a four year old son, and his IgE is 20,000 yet. But, thanks for God, he is in very-very good condition. Perhaps you know, that the height of IgE is not connected with the patient's condition in this desease. I know an other boy, who is 10 years old, his IgE is 11,000, and he can live absolutely normal life / school, sports, music, et. /. But I have fantastic news! The deficient gene has been found!!! Visit your immunologist, because there are more international programmes to help this children!!!
Best regards,
Heni

Hello Jack

My son is 15 years old and has Job's Syndrome. He was diagnosed with this condition in 2006, having followed the usual path through infancy of chest infections, abcesses, excema, broken arms, etc. and culminating in being desperately ill in the latter half of 2005 and in ICU for 10 weeks. He has part of his left lung removed, bronchiectasis, decreased bone density.

However, he now sees specialists monthly, takes antifungal and antibiotic medicines every day (supplemented by IV antibiotics every three months) and has regular physio and visits to the gym; he is back at school, taking part in everyday normal teenage activities, and growing into a good looking young man. We are cautiously optimistic, that with this careful management, he has every hope of leading a relatively healthy life.

We have also heard about the STAT3 gene findings, when we last visited one particular Professor he was very excited about the discovery! So, now wait to see if more improved ways of dealing with Job's might be developed.

Kind regards, Ax

Ax,

I'm glad to hear that your son is doing better. Curious though....you said in late 2005 he became "desperately ill". What happened? Was is a bad case of bacterial pneumonia. Also, I'm curious to know if your son has chronic joint pains? (arthritis perhaps). My eight year old daughter started experience joint pains earlier this year, and the pains have progressively gottten worse. It's starting to affect her ability to play, walk, jump, tie her own shoes (because it hurts when hse bends her knees). I'm going to try and get her an appoitment soon to have someone check it out. I'm just worried that because it's so bad at such a young age, that perhaps this means that by the time she's a teenage she'll have the body of an 80 year old woman. Oh, and we live in TX but have made contact with NIH in Bethesda, MD. They are going to see her in mid-Dec.to do a full analysis of her condition. I'm hoping that they can give me some good news about new treament options now that the defective gene has been found. I will keep you all posted on what I find out.

Well it all started in the summer of 2005 when he went to have lower left lobectomy, as this part of his lung showed up as diseased on a CT scan. He had a complicated recovery from this op, lung refusing to heal and seal properly and he had to have a second thoracotomy four weeks later, which didn't solve the problem. He was continually attached to a chest drain to try and make the lung stay inflated. After a ten week stay in the children's hospital in Glasgow (original plan was 10 days!) he got home and managed to go back to school for a week or two.
Then he became very ill indeed and had to be flown back to the PICU at Yorkhill, Glasgow. He had a severe chest injection, staph A, pseudomonas, aspergillus, amongst other bugs, and just to compound things further a ruptured duodenal ulcer was discovered two days into his PICU stay, which required surgery. Nobody thought he would live. He remained intubated for eight weeks, and needed lots of IV antibiotics and bronchoscopy’s with lavages to try to clear his lungs.
When he eventually got better and more investigations with immunology specialists were organised the diagnosis of Job's Syndrome was reached. Seemingly this path that Sam took is very common to people with Job's Syndrome, chest infections, abcesses, excema, broken arms, etc. then taking a big hit in their teens. He has never experienced joint pain though.
The crowd that you're going to see in Bethesda, MD, that's Maryland isn't it? If so I've heard of them through one of Sam's professors here in the UK, there aren't many doctors studying this condition and those that do all know each other.

Oh my, Alice, it sure sounds like you guys have been through a lot! My daughter has been in and out of the hospital most of her young life, but compared to Sam, I guess I can say she's been lucky. But I will say this, you have confirmed for me what I have been learning....and that's that this disease tends to rear an ugly head in the teenage years. All of my research has said this. (And I say MY research because, like you mentioned, not may docs know this disease, and so I've been educating myself on it.) I have read that lung infections with cysts (filled with the germs that you mentioned above) are almost always the primary complication with this disease. I've read that in the teen years all sorts of changes occur, causing more serious complications. My daughter was diagnosed with Hyper IgE in infancy, and so every time I take her in for an illness I always let the docs know what she has. The fact that your son was diagnosed so late may have had an effect on the way his docs treated his illnesses during his earlier years. I'm just guessing. I truely hope that you're son continues to improve. And yes, we are headed to Maryland in mid-Dec. I REALLY hope that I hear some good news when we get there. My daughter has had lots of bacterial pneumonias, but we've been lucky that none of them required hospitalization. She's also not had any broken bones (yet), but I'm starting to suspect at least some hairline fractures at this point because of all the pain she's been in. I'm having a hard time getting the docs to take me seriously on this one. Her docs say, "If she had a hariline fracture, she wouldn't be walking on it." The only thing is, I've read that in Hyper IgE patients, most fractures are "painless" and go unnoticed. Weird huh?

You're quite correct when you say later diagnosis affected treatment of the various ailments that Sam had in his early years. Mostly he was treated as an asthmatic, with bad excema and from time to time chest infections. Nobody's fault really, but a very rare condition for him have and for it to be easily recognised. He was very lucky to have a switched on respiratory consultant in Aberdeen who pointed him in the direction of the specialists. I'm sure you'll find lots of information and learn about appropriate treatments when you get to Maryland and can talk to the docs who know about Job's Syndrome. What you were saying about the fractures is a puzzle though, poor Sam certainly felt it when he broke his arm (three times!!).

Ax

My brother in-law was just diagnosed with Job Syndrome at 3 yrs old. His IgE count was almost 30,000 at diagnosis. We are still researching to better understand what all this means but he has had several infections including eczema herpeticum which developed staph which is why this process began we always assumed it was bad eczema and food allergies that was causing his horrible skin. He has several food allergies, asthma, skin boils under his arms and in his chest, and very very bad eczema. They are starting infusions for him to see how he clears up, but we don't know where to go from here. He is seeing an Immune specialist, the only one in our state, and we are beginning the process to have him evaluated at a childrens hospital to get more answers. This process is so frightening, and hard to see these little ones put through so much.
D



Edited 2 time(s). Last edit at 02/10/2008 10:28PM by d_zeas.

My family is new to this diagnosis and costs are already out of control. Any advice on how to be able to see doctors in Maryland, and get multiple doctors advice...I don't want to see financial constraints to harm his treatment which seems to from research be a lifetime of medicial concerns.
D

My 2 yr old son was Diagnosed with Job's Syndrome with his IgE levels was over 13,000. I don't know anything about Job's Syndrome and were to go for testing and any support . If anyone has any information it would be greatly appreciated... Thanks .

Hello

Can I recommend this little booklet

[www.primaryimmune.org]

Good starting point for understanding all that's involved with Job's/Hyper IGE Syndrome. My son Sam, now 15, has this condition. No doubt you'll have read all the thread of this posting and will know that he is doing really quite well now. Try to make sure that you get hold of a good immunologist, plus knowledgeable chest and skin consultants. In our experience these are the three that you'll be the most involved with.

In the last section of the booklet, it talks about complications following chest surgery. We can certainly relate to that - Sam was on a chest drain for weeks and weeks because his lung wouldn't heal and inflate. Much later he had a procedure that stuck the lung to the chest wall to keep it permanently inflated.

I'm sure that with prompt intervention by your medical people your son's condition can be closely monitored and managed. Can't emphasis the point that prompt attention to any type of infection with Job's Syndrome patients really makes the difference in keeping the person well. This type of regime works very well with Sam.

Take care, Ax

Thanks , so much for the support and advise .I am going to check out the little booklet.Who did you all see and go to (Immunologist)? We are going to MCV to a Immunologist , Dr. Anne Marie Irani, in Va... I have other children that have Asthma and Allergies as well and I am so scared and hope that the doctor's are wrong. How do you pay for all of the test ? Where do you turn? Any suggestions or support is greatly appreciate .Thanks in advance..

Try not to worry too much. I know that this will be hard until you and your son see the immunologist and hopefully get some definitive answers, then you can try to plan a way to deal with it all.

We live in the UK. The immunologist that Sam currently sees is based in Newcastle, Prof. Andrew Cant. He was the one that diagnosed Sam with Job's Syndrome and he's well known in his field. In addition Sam sees a respiratory consultant monthly, in our home town, to check the condition of his chest, cos' as you probably now know Job's Syndrome people usually end up with damaged lungs. Sam is treated through the UK's National Health System so luckily we don't have to pay for tests, treatments or his medicines.

Unfortunately Job's Syndrome is very rare so there aren't a lot of people to talk to about it. Thank goodness for the internet and forum's like this one, don't you think? Another very active forum I check out regularly is on www.pia.org.uk in the Discussions section.

When are you due to visit the immunologist?

Take care, Ax

Thank You So Much!!! I am trying to stay strong, and hope that they will tell me that they made a mistake , But all of the symptoms are Job's Syndrome.
Thanks, for sharing the info about who Sam sees , & the web site to go to.
Yes, this is a nice way to talk to people who have this going on in there lives. This sounds like it is going to be a long battle , I am so scared. Thank you, so much for sharing your this part of your life with me.
It does make me feel better to talk to someone else who is going through the same thing. It sounds like you all are doing pretty good & it sounds like you all have had a long trip to get there.
I really appreciate you giving me advise and support,I know that has to be hard to have to tell me or anyone about your son , thanks for helping me get the info. .. I wish you all the best . Does your child go to school? Do you have any other kids? If you have other kids do they go to school .. I was wondering , because I have 3 kids 6 yr old girl , 4 yr old boy and 2 yr old boy Alex that has the Job Syndrome. My concern is can my other kids go to school?

Yes Sam does go to school. Apart from the times when he goes into hospital for his planned 10 day IV antibiotic treatments he carries on like a completely normal teenager - goes out with friends, does a bit of sport, messes up his room, lies in bed as much as possible at the weekend! He has a sister, two years younger, who does not have Job's Syndrome and according to Prof. Cant need not concern herself about having the condition or passing it on.

Did you read earlier in this post about the people in NIH, Betheseda, Maryland - they seem to be doing a lot of research into Job's Syndrome - can your doctor get in touch with them? See www.nih.gov and look into the clinical trials section - 11 trials currently listed specific to Job's Syndrome.

Ax

Thank you for the info . I am going to go to the web sites.. WE go to the Immunologist next Tues. at MCV in Richmond Va , I want them to tell me this is not what my son has. I am praying for your son and your family.. Lisa

Lisa
Look forward to hearing your news from next Tuesday - which I too hope is good.

Ax

We seen the Immunologist and they told us they could not say yes or no if he had this Job's Syndrome ,and they were very rude and said that the other Dr's that my son sees Allergist / Dermatologist / Ped Plumologist did not know what they were doing and we need to get his Eczema under control. Alex our son has Sever Molusim Contagiosum all over hsi body and he had MRSA again for the 4 th time right now. He had inflammation on his lungs last Tues and when I ask about that and they said nothing to worry about . We are going to get a 2 nd opinion.
Lisa

I have a 2 yr old son who has Severe Allergies , Eczema , Asthma , Mulusom Contagiousm's all over his body , he had a chest xray showed inflammation , his IgE level was 13,051 and he has MRSA for the 4 th time right now , he has had alot of ear infections .. We went to see a Immunologist and they were rude they said that our child had to many Dr's and I need to stop seeing some of them , and they did not know what they were doing & that they could not say yes or no if our son had this Job's Syndrome. We want to get a 2 nd opinion . What are your thoughts on this ? I hope all is well with your daughter . Lisa Mounayar.

Oh Lisa, it doesn't sound like your visit was very helpful at all.

Did the 'rude' immunologist seem to think they could be of any help your son, regardless of whether you stop seeing any or all of the other Doctors? Are they going to conduct any investigations/tests to reach some sort of diagnosis - be it Job's Syndrome or no?

What advice were you given to get your little boy's excema under control? (Lots of moisturiser? Sam uses Diprobase, and clothes NOT made out of nylon, etc. helped here, plus antibiotics to deal with the skin infections). Sam had that molluscum as well, quite badly too, when he was little. It's quite common apparently and it did clear up eventually but took a lot longer than other kids who had it at the same time.

How easy will it be for you to get a second opinion? I'm really sorry that this trip has turned out to be so frustrating.

Ax