Wednesday, 19 February 2014

D day - the diagnosis

No more testing. No more waiting. 

As of today Nate is no longer a SWAN. He has a syndrome with a name -ATRX - x linked alpha thalassemia mental retardation syndrome. 

It's a rare syndrome. I'm still trying to find things out about it but from what I can gather there are about 200 recorded cases worldwide. 

I'm not sure how I feel. I felt suitably nurtured all cocooned in the undiagnosed community. Now I'm left wondering where we belong. I'm finding this situation quite frightening. It's like venturing into the unknown again without anyone to hold my hand. It means I have to take notice of the facts of ATRX, whereas before I could happily bury my head in the sand and say "well we don't know, that might not happen". It seems that many children with ATRX die before their 5th birthday- causes seem to aspiration and pneumonia, complications of intestinal problems, and the unknown. Nothing new there really. However there are a few adults with ATRX in their 30s. Nate seems to be at the severe end of the syndrome spectrum but the positives are that many children eventually walk and some manage a few words. I hope that the professionals involved with Nate will now be better equipped to treat his symptoms and give him the quality of life he deserves. It has been difficult for all concerned to diagnose and treat Nate's many clinical problems, I can almost hear the proverbial sigh of relief heading this way from the hospitals involved with him. Saying that some teams involved have been outstanding and totally unfazed by his prior "undiagnosed" status. 

So this means no more testing for Nate.  No more waiting.... Or does it? 

The diagnosis has a sting in its tail and comes with deeper implications

Being an x linked syndrome means that it came from me unless it was a spontaneous " de novo" mutation in him, with Nate getting his healthy Y chromosome from his dad. If it came from me there is a chance that our daughter may carry the mutation so the next stage is finding the mutation in the ATRX gene present in Nate, and then testing family members for it. This will allow everyone concerned to make informed choices in the future. 

The most frustrating thing about all of this is that "probable alpha thalassemia trait- clinically insignificant" is listed on Nate's newborn screening. I was told it didn't mean anything. And yet an alpha thalassemia trait, hypotonia, and unusual factial features ( all of which Nate had at birth) are the key parts of the syndrome. How the diagnosis finally came about is surprising in itself but it's an end to much of the uncertainty. 

I have eaten much cake today. There is wine in the fridge. That's all I have to say.