Rare Disease, or what disease?

Suggestion to be a fan of a certain cause/group often pops up on Facebook. Fan of Rare Disease? Should I or should I not be a fan of Rare Disease on Facebook? First things first, how do we classify Adel's illnesses into a particular disease? That's the first question I ask myself..

Adel's been suspected of Gaucher, which the doctors have now ruled out. We have heard it many times that Adel's case is a complex one. A child born with hypothyroidism, congenital heart is a clear indicator of some kind of a genetic defect which calls for detailed investigation. For Adel, throw in beta-thallasemia, and chronic lungs as well to complicate matters. So far, there has been no diagnosed genetic defect (except for beta-thallasemia). We understand the doctors concern that Adel doesn't behave like a typical beta-thal major child and that there must be other disease that manifested in hypersplenicism or chronic lungs. He has hepatosplenomegaly, he's got serious lung issues, he's got left vocal cords palsy, hypotonia, he's akin to a child whom has lysosomal storage disease, or he's probably just a pseudo Gaucher?

We are all perplex as to why he reacts the way he does and we want to know why.

Here's the catch, there are about 40,000 genes in each person and out of which scientists have only understood or unfolded about a quarter. In order to check each and every one gene, we're banging our heads into realm of impossibility at this part of the world. Here's another catch, even if you have found the actual genetic defect, is there a treatment for that? We have been told, it's only advisable to test on those defects which there are treatment for. It sucks, to know that we may never know why Adel has to go through all that he's going through. It breaks my heart when I heard it, as I may never know what disease we are up against or how best to treat it. We just treat it when he needs it..what they call asymtomatic treatment.

I was trying hard to fight back my tears in that particular session with the geneticist, didn't want to let the matter rest at "asymtomatic treatment", there must be something else science could offer? Yes, stem cell transplant. Guess what? Adel is a lousy candidate, with congenital heart and chronic lung, it's suicidale. That was 2 months ago and it took me a couple of hours to swallow that and let it go..

There's no answer and there may never be one, but if there's life there's hope, let's just hope and pray that Adel will wean off his oxygen and CPAP and he gets stronger everyday for him to be fit and be a good candidate for a bone marrow transplant assuming that one of his siblings is a perfect match.

I suppose Adel's is a case of rare and unknown disease? I still don't like the sound of it...