Raising a Sensitive Child

Nourishing Body, Mind and Spirit

Our diagnosis story: Job’s Syndrome

33 Comments

My son has been diagnosed with a rare immune-deficient disorder. So rare that only around 850 individuals have been diagnosed with this disorder worldwide since it was first discovered in 1966. Hyper immunoglobin E (hyper IgE) syndrome or Job’s syndrome (named after the biblical character’s skin afflictions that are typical with this disorder).

Two years ago, just before we left Calgary, the respirologist mentioned the possibility that he may have this syndrome. Since we were moving to Newfoundland, we didn’t have time for him to get worked up by an immunologist there, and when we moved to Newfoundland, I mentioned it to the variety of doctors that he was seeing, but since Newfoundland doesn’t have an immunologist, no one really followed through with investigating it further.

I did read up on it at the time and I thought that it sounded very plausible that he had it. He had many of the same symptoms and I was heartened at first to think that we had a reason for why he kept getting sick and the type of symptoms that he was showing. But when I read that there was no cure and they only managed the symptoms with constant antibiotics and steroidal creams, I didn’t persist for a diagnosis.

Symptoms include:

  • High levels of IgE (normal is 50-100 IU/mL; high is considered greater than 2000 IU/mL; Moses’ level is 59,000 IU/mL, which is off the charts and is why he is sensitive to everything, including many foods).
  • persistent eczema;
  • abcesses (he had several in his first year and 2 that needed to be drained while under general anasthetic);
  • recurrent pneumonia;
  • persistent thrush; and
  • recurrent bone fractures (he’s only had one, thankfully).

In 2007, scientists identified the gene mutation (STAT3) that is responsible for this disorder. It will take two months to get the results of the genetic test to confirm the disagnosis, but his immunologist feels strongly that he has this disorder based on his levels of IgE and the other symptoms that he presents.

According to his immunologist, with proper management (preventative antibiotics), the prognosis isn’t terrible (i.e., they can live productive and long lives, but their lives are often marked by repeated infections and hospitalizations).

Why I am thankful for a diagnosis:

  • I no longer feel like a crazy or bad mother and now know why it’s been a struggle to keep Moses healthy, despite all of the great things that we’ve been doing to keep him healthy
  • We figure that if Moses’ IgE levels are at 59,000 IU/mL now (which is considered astronomically high), it must have been around 100,000 IU/mL when he was two years old during the time that he was having anaphylatic reactions for no obvious reason.
  • We also feel that given how high his IgE levels are, he is doing REMARKABLY WELL. Really, miraculously well, and I feel that all of the other things that we have been doing to boost his immune system have kept him alive and generally well up to this point.
  • We can tap into a support system and have found a support group for Hyper IgE.
  • Our family and friends no longer think we are being overly hypervigilant of Moses’ health and what he eats and have a better understanding of what we’ve been dealing with for the last four and half years.
  • Things make more sense.

Why the diagnosis was distressing:

  • Initially, it felt like a life sentence – as though the diagnosis took away all of our hopes of Moses getting better.
  • They want to manage him with medications that suppress symptoms, which will drive the disease deeper into his system, making it more difficult for Heilkunst to work effectively.

Recommended treatment:

  • daily antibiotics (even when he’s not sick);
  • daily antifungals (for his thrush);
  • continue with suppressive lung medications (i.e., flovent);
  • management of eczema with hydrocortisone creams; and
  • full vaccinations.

I was highly distressed to hear this. I was more distressed about the treatment plan than I was about the diagnosis itself. I don’t believe in suppression of symptoms because it will drive the disease deeper into his system, making it more difficult for Heilkunst to work effectively (and I really believe that Heilkunst can help my son as it has already proven to help him during these last 6 months). I am concerned about the use of antibiotics at the best of times (never mind antibiotics as a preventative measure), but especially for someone who is already immuno-compromised. I am concerned that long-term use of antibiotics will select for antibiotic resistant bacteria.

I believe that vaccinations do more harm than good (and there’s scientific evidence backing this up), and especially do more harm to immune-compromised individuals.

So what do we do now?

DH, who generally also has supported minimal medications and vaccinations, feels strongly about following the medical advice, but supports the idea of continuing with Heilkunst and also finding other ways to minimize the potential negative effects of the antibiotics (like using probiotics) and other natural ways to boost his immune system. After spending a couple of days angry and divided, we’ve decided to work together and will one-by-one start to introduce some of the medications, noting their effect, and also continuing with Heilkunst, which I strongly believe will help.

I know that in the short-term, the introduction of medications will help (as they are suppressive in nature and do bring relief of symptoms). A couple of days ago, we started some of the hydrocortisone creams, which has, in combination with the daily baths, followed by vaseline, brought relief to Moses’ eczema. Our hope is that we will only need the creams for a couple of weeks and it will be a short-term measure only.

We started the antifungal medication yesterday, and I know that it will bring relief to his chronic thrush and also probably yeast problem throughout his digestive system. This, in turn, will help heal his leaky gut syndrome, and can also decrease his sensitivities to foods. I actually have no problem with using the antifungal, especially since it is one of the recommendations made by McCarthy and Kartzinel in their Fighting Yeast/Candida chapter their Healing and Preventing Autism book.

We will likely start the antibiotic in a couple of weeks (unless I can convince DH otherwise). I hope that he will not need to be on it for long, but I know that his immunologist’s intention is for him to stay on it indefinitely. We will, of course, restart him on probiotics.

DH and I will meet with the Heilkunst practitioner tomorrow and will start another round of healing. We will start seeing his Heilkunst practitioner every four weeks rather than every six weeks, so that we can speed up the healing process.

[By the way, the Healing and Preventing Autism book is still proving to be an invaluable resource as the chapter on Viruses / Bacteria is highly relevant, as is the chapter on Allergies and Food Sensitivities and there is a great easy-to-understand section about the immune system and the various immunoglobins and their role in the body.]

One thing that I am very thankful for is that the diagnosis didn’t come any earlier. The diagnosis has come during a time that I have felt very optimistic that we have found a method of healing that can truly help (i.e., Heilkunst), so I don’t feel hopeless. With or without the diagnosis, we will continue with hope.

Compiled tips for living with Job’s Syndrome here.

Update:
June 20, 2011: It took seven months, but our pediatrician finally confirmed the Job’s syndrome / Hyper IgE syndrome diagnosis (i.e., Moses’ blood work was positive for a STAT3 gene mutation). Nonetheless, we are optimistic because Moses has been doing so well with Heilkunst homeopathic treatment. Post about this here.

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33 thoughts on “Our diagnosis story: Job’s Syndrome

  1. Pingback: Still healing- round 5 « Raising a Sensitive Child

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  3. BIG Hugs to you and yours Janice.

    When i get a chance to read your posts i feel your endurance and strength, am know that it isn’t easy. Healing any type of ailment is a journey, with different routes that come with even more routes sometimes circular ones and sometimes dead ends. It can be overwhelming, yet somehow the universe delivers us with exactly what we need to move forward.
    Your cheer leader friend, Carla

  4. Carla: Thanks so much for your message. It helps. And thanks for the reminder that the universe is behind all of this, supporting us. And somehow, everything is unfolding exactly as it was meant to be.

    Hugs and love,
    Janice

  5. Oh, my goodness. Such a sad diagnosis. I would have been disturbed by the treatment plan, too! I am shocked about the full vaccinations…I thought the whole reason behind mass-vaccinating everyone was to protect people with immune disorders (who aren’t supposed to be vaccinated, right?).

    Keep listening to your intuition. You’ve been doing great at it so far.

  6. Lisa: Thanks for the encouragement and support. Yep — full vaccinations. It doesn’t make any sense to me. Plus vaccinations increase the production of IgE. DH still feels strongly about following the immunologist’s instructions. We will do it slowly though, one by one, and then using Heilkunst to remove the charge of each one before we do the next one. Wish us luck.

  7. Good luck! I am sure you will keep us posted. 🙂

  8. Thank you for sharing your story with us. My son called last night to say our little Justice Jr. will be tested for Job Syndrome. He is 7 months and has been in and out of hospitals due to skin conditions: staph, mrsa, et.al. This is the first site I have been able to find about someone who went through the same things we are going through now. Thank you so much for taking the time to post everything you have learned. Moses is a very special child! Keep up the wonderful work you are doing. It is greatly appreciated!

  9. Hi Letita: I’m so sorry to hear about little Justice Jr….

    I really do believe that sequential homeopathy (esp. Heillkunst) can help, although it isn’t an easy healing journey and I know that it’s not for everyone… Take good care and do let me know if I can help in any way.

    Janice

  10. Thank you for this blog. I just found out today my 6 year old nephew may have this disease. Your blog is very informative, clear, well put-together, full of different ideas and very well-written. Plus psychologically it is comforting to know there are others out there.

  11. Hi Sara: I’m so sorry to hear that your nephew may have Job’s syndrome. I know that it is heartbreaking news. I’m glad that you have found my blog helpful. I have hoped that the information that I share could help others, especially others with Job’s syndrome. If there’s anything else that I can do to help, please let me know. I agree that it does help to know that there are others out there. Take good care.

    Janice

  12. My daughter has a non-STAT3 mutation that manifests like Hyper IG(E). Her DOC-8 gene screen is pending (another gene mutation responsible for a form of Hyper IG(E)). She is 8 and we have been on quite a roller-coaster of medical professionals. She is currently being cared for at Yale Children’s, CHoPs, and NIH. GOOD LUCK!

  13. Hi Michele: Sounds like your daughter is in good hands now with so many professionals caring for her. I didn’t know about DOC-8 gene. Very interesting… We still haven’t gotten the news back from our immunologist about my son’s STAT3 test… Thanks for sharing about the DOC-8 gene. Keep in touch with how things go.

    Take good care,
    Janice

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  15. Thank you very much for this blog. My Son Ethan has this same disease as he got this from me. He is 8 years old now, broke both his wrist just before the age of 4 and now he has multiple spine fructures while playing on and fell on our couch. His Ezcema is not going away, and he is allergic to Soy, Milk and egg base products (he was in the Hospital for a month and a half for severe lung infection when he was just 3 weeks old, the cause was the baby formula) Staph infections occured almost every month, from his eyes, legs etc. We’ve been to Children Hospital in Los Angeles 2 to 3 times a year. I know its hard, I know it is hard, but I think kids with this disease will eventually be fine. I remember the same malady when I was a child the recurring Staph infections, I broke arm, my leg and the eczema that I have to deal with till I was a teenager was a pain, eventually most of this are in the past now, seems my health turns to normal when I reach 40….

  16. Hi Marco: Thanks for sharing you and your son’s story. I’m happy to hear that things have stablized for you. Your son will be in my prayers. Take good care.

  17. Pingback: Hope for parents of “non-responders” « Raising a Sensitive Child

  18. I love your blog. My youngest son is 7 and has had lung problems since he was born. Started with diarrhea when he was just a few hours old. I took him home from the hospital with a bleeding diaper rash. Uncontrollable yeast infections in the mouth and on the bottom area soon followed. Then came the staph infections. When he was 4 the issue of possibly having to amputate his foot arose. The infection was so bad and wouldn’t respond to antibiotics. Finally after 4 months of antibiotics it cleared up for a few months only to return again. He now has a staph infection in the back of his leg. This passed year he had pneumonia twice in 6 months. He is scheduled to see an immunologist the 24th of this month. His IGE levels came back elevated. Not near as high as your son’s but high enough we were told hyper IGE syndrome is a strong possibility. He has made it to 47 lbs. At this point we are praying he continues to gain weight instead of losing anymore. Your family is in our prayers.

  19. Hi Jaylene: Oh, I’m so sorry to hear about your son. It sounds like it’s been a very difficult journey for him and your family. I also hold your son in our prayers. As you can read from my blog, we’ve found that sequential homeopathy (Heilkunst) really helped (although it wasn’t an easy journey) and are currently finding essential oils are helping as well.

    Wishing your son much healing. Let me know if there’s anything that I can do help.

  20. My partner has jobs syndrome and his is the rare autosomal type… they said he wouldnt reach aged 6 but is now 29 with 2 daughters (diff mums, one being me). Before he was treated with medication (when we got together) he had chronic bouts of pneumonia and hospitalised once a month until finally they looked into one of his many vol.s of medical files and realised he had referals pending to see allergists and other specialists for had photographs taken and did full genetic tests. At the time (2011-12) the results had to be sent to Sydney (we live in Adelaide). Furthermore, i am a 3rd yr undergrad uni student doing my nursing and our daughter had a 1 in a million (lest than about half the chances of receiving the gene from her dad). She has had terrible dermatitis on her face mainly since she was newborn (born in winter tho) having had bronchial inflammation at 1-2 months old eventually becomimg chronic bronchitis (ashma now).. hard coz aircons and heaters dried her skin out – i didnt think she had that 1 in a million chance until couple of weeks ago she was found positive for the Hyper-immunoglobulin E and that her children have 25% chance of inheriting the illness like her dads (my daughrers isnt bad – no pneumonia but skin issues – so now it is all about intervention to help in the aid of prevention (or just more understandimg and education and hiw to treat a child with the syndrome). My partner had a spontaneous pneumothorax when he was 21 years old as his lung colapsed and they had to remove the 3rd lobe from his lunch , shaving and remiving parts of the rib cage – due to being in pockets – now my partners mum passed away when he was 13 – so he didnt receive sufficient and appropriate support from anyone in accordance with his health – he is a smoker (his doctor was in shock – as his lung capacity test was as nearly as strong as a healthy adult male with 2 full lungs and no respiratory diseases. He lives normally – i nag at him about his health and takes the correct measures needed in maintaining a good quality of life – but have had some very hard to bear situations where he had nearly died. On conclusion, since being on medication every day for past 3-4 years he has rarely has pneumonia (maybe once or twice). I am making him becoming more educated in understanding the sydrome he hand our daughter have in order to keep well by interventions and keep8ng up to date with all new researches and break throughs they will have.

  21. Sarah, thank you so much for sharing your daughter’s and your husband’s story. Have you joined the Job’s syndrome FB group? It’s a great group for support. https://www.facebook.com/groups/HIESGroup

    So great to hear that your husband is living normally and has great lung capacity!

    Glad to hear that your daughter hasn`t had any pneumonia….

    Wishing your whole family much wellness.

  22. Hi I am Cassidy but people call me Cass. I was tested at the Mayo Clinic in Rochester Minnesota and a couple weeks later we found out I had Job’s Syndrome. I have been looking for other kids with Job’s Syndrome because all my friends now aren’t sick like me and they try to talk about it but I see they don’t really know and since few people in the world have Job’s Syndrome and I began to notice that they almost seem scared to be my friend. I just wanted to read about kids who could understand what it is like to have Job’s Syndrome. So I am very happy that I found your blog and to see that there are other kids that have to deal with Job’s Syndrome. I don’t mean to sound like I’m glad other people have Job’s I’m just glad that I found other kids who completely understand what it is like to have Job’s. So thank you for sharing that your son has it because all the other blogs I found were adults with it. I’m so sorry that your son was diagnosed with it and I will pray for you guys every day. Thanks again and if he wants to talk to someone that has Job’s Syndrome I would love to talk about it with someone who understands what it is like.

  23. Hi Cassidy: Thanks so much for your message. How old are you? My son is turning 10 next month. He’s been doing really, really well lately!!!! He has received the right combination of traditional medical care (i.e., prophylactic antibiotic) and sequential homeopathy (Heilkunst) has helped tremendously as well. Have you joined the Job’s syndrome group on FB. It’s a very active and supportive group and many parents of children are active on that group. https://www.facebook.com/groups/HIESGroup/

    Wishing you all of the best, Cass! I know that it can be a difficult journey, but I think there’s a lot of hope as well.

  24. I was diagnosed with Job Sydrome when I was 18. This was after flat-lining 4 times (due to life-threatening infections), and having a stroke at 13 because my body was so weak. I have also had viral meningitis due to my barely-there immune system. I have never met anyone else with my condition and have often felt very alone. In the last 3 months I have spent a total of 1 wk at home, while the rest was spent in the hospital. Currently I have to do IV Vanco every 8 hours. It runs over about an hr and a half but I am very grateful that I get to do it in the confines of my own home because the hospital has so many germs that can make me sick. Everything you have stated is very true! I am now 28 and do not show any improvement. Instead my body has weakened itself so much that last year my bladder and urethra had to be removed as well as a complete hysterectomy. My life is anything but “normal”! I would love to get intouch and talk to you about your son some more. Thanks for listening!

  25. Hi Terbaby06 – I will email you.

  26. My son is thirteen and he was just diagnosed with this. He doesn’t seem to have it as seriously. He mostly has recurring strep on his bottom and ear infections. He seems to be having a lot of trouble with allergies lately. He has broken three bones in his life. Two bones broke very easily with a small fall. He also has the problem with the teeth. We are going to the immunologist soon. Any ideas, questions, test or mess I should ask about. I’m pretty weary of doctors by now. So many years of their nasty attitudes and nasty comments and wrong diagnoses. Sending me home with no help and a crying sick baby. Any advice will be greatly appreciated

  27. Hi Analyse, I will email you.

  28. I found your site about your child and thoughts about hyper ige syndrome, While searching for some information about my 2 year olds diagnosis of hyper ige syndrome…
    Im at lost for my sons pediatrician , hemotologist, infectious disease dr.s can Not give me any insight of why they have my son on septra 10mls a day (he has recurrent viral
    infections and mouth sores inside of mouth ) but everyone says please keep him on meds and wait
    to see immunologist in two weeks.
    may i ask what do you mean by food issuses…my son is so picky and when he does eat we have to deal with his GERD (he had 19episodes of apnea ) because of gerd by age 10weeks old…
    im at lost what should i worry about, should i keep my son out of
    day care ?

  29. Hi Tracy: I will email you.

  30. Glad to see there are other moms out there who have gone through the struggles of raising a child with Hyper IgE. My son was diagnosed a year and a half ago after numerous hospitalizations and extremely terrible skin rashes (since birth). After three years of trying to find out what was wrong with our son, we found our AMAZING PEDIATRIC HEMATOLOGIST. He brought me to tears when i first walked in his office to explain the symptoms no other pediatric doctor could explain.

    He immediately told me that my son has Hyper IgE and put him on Methotrexate as a treatment. Within a week, my son no longer had rashes, boils, grinding teeth, sickness. Three years of tears were gone!!!! Best part is that my child at age 3 1/2 could now eat ANYTHING! The look on his face when he ate his first biscuit and cookie was priceless.

    Please be open to medication as no child or person should ever have to go through that terrible experience. That’s why they have medication.

  31. Thanks for sharing, Hyper IgE Mom. That’s so wonderful that Methotrexate was such a game changer for your son and that you have a great hematologist.

    We have actually tried a lot of medications. My son’s been on a prophylactic antibiotic, antifungal, antihistamines, steroid puffers since his diagnosis and now is getting monthly IVIG infusions.

  32. Of course! I will be happy to give the details of what he went through to anyone (including photos of his poor skin). My son is 5 now (a year and a half on the medicine) and has not has one single skin rash/irritation or staph/strep infection since we started the medication. He goes for blood work every 3 months to test his levels, and all is well! He looks and acts like a normal 5 year old. Also, when diagnosed, his immunoglobulin E level was at 99,000.

  33. Thanks so much for sharing.

    Have you joined the Job’s syndrome / Hyper IgE syndrome FB group? Some people may be interested in hearing your son’s experiences. I think it would be worth sharing on the group. https://www.facebook.com/groups/HIESGroup/

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