It's become very clear that we are not dealing with a "normal" level of autoimmunty in our little zebra. We are dealing with a child with some serious underlying immune dysregulation. The frustration and emotional toll of balancing it all can be overwhelming. The process of getting someone to figure out what exactly "it" is... is quite simply insanity inducing!!
For years we've been hearing terms like "unknown multiple autoimmune syndrome" and "possible primary immune deficiency," "Lupus-like," etc. Obviously something is wrong here, but because our little zebra has been doing so well, and doesn't fit into any known autoimmune syndrome, no one has initiated the daunting task of finding that elusive "it" until now.
Apparently in cases like this the "it" is very difficult, expensive and time consuming to find, so it gets put off as long as things are going OK. Instead of extensive research, they simply do the standard AI and lupus testing and then wait to see if this might turn into something they've seen before. After all research isn't covered by insurance and doctors are busy people with lots of problematic patients.
Because I have been fighting to figure this out for years I read and research A LOT. I have an honorary PhD in auto-immunity. That's right... I'm not a doctor, but I play one in real life. So last year I was scouring medical journals for multiple autoimmune syndromes and I came across and extremely rare condition that blew my mind. It's called IPEX syndrome.
Now, if you haven't read about Emma's medical history here's a nut shell version.
Insulin dependent at 9 months, followed by severe GI problems, then arthritis, lymphadenopathy, glomerular nephritis and hypothyroidism and now asthma and a variety of unexplained AI issues.
Here's a nutshell version of IPEX: Type 1 D in infancy with severe GI problems plus hypothyroidism and usually eczema. The children that survive the first year go on to have arthritis, lymphadenopathy and glomerular nephritis along with other systemic auto-immune problems.
Crazy, right? Well here's the thing. IPEX stands for Immune dysfunction, Polyendocrinopathy, Enteropathy, X-linked. If you are not familiar with the term "X-linked" it means that this is a sex chromosome linked genetic problem that happens to BOYS, and it's almost always fatal in the first year of life. Obviously this can't be the same thing... ?
I have mentioned IPEX and it's FOXP3 gene defect to a variety of docs in the past year and gotten many blank stares and "you're over my head" comments. But while we were meeting with Em's new amazing pulmonologist he said "have you ever heard of IPEX syndrome? I saw a little girl once who had it, and it was very similar to this case."
I nearly fell off of my chair!
He went on the say that IPEX in girls is so rare that it is "not even in the literature" but that it is possible. ( OMG! Really? A doctor that gets that there's a difference between "extremely rare" and "impossible." but I digress...) I immediately contacted her endocrinologist who had already been reading about IPEX and he agreed that this was something we had to investigate.
With a genetic defect to look for and some ideas about a possible underlying cause, we finally have a starting point for medical research. There are few genes that have been identified in the past couple of years that appear to cause similar immune problems. They cause a problem with T cells, primarily the T cells that regulate when to shut off an immune system attack.
If your regulator T cells don't know when to stop your killer T cells from destroying healthy tissue or "self," you get a vicious cycle of autoimmune damage every time you get sick. The immune system attacks the "non-self" virus or bacteria, but doesn't know to stop when the threat is gone, so it simply moves on to attack your tissue.
I'm hopeful that we can finally have some idea of what is causing this insanity and if there is anything we can do to stop it before things get worse. With a new serious diagnosis every year since her birth so far, we can't afford to waste any more time. And honestly I need some kind of resolve before I end up in a padded room!