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.
- 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.
- 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.
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.
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.