A Hunter update

As most of you reading this already know, Hunter has been diagnosed with arthrogryposis since he was about four months old. Arthrogryposis simply refers to contractures of the joints, and up until a week ago, we had no idea what was causing this in Hunter.

In June of this year, we met with a geneticist who reviewed Hunter's case, and thought something didn't quite add up. He said the fact that Hunter had lost flexion since infancy made him think there is actually an underlying neuromuscular disease, and that it could be progressive. On September 24th, Hunter underwent his third surgery this year - this time it was a biopsy. We got the results last week, and I thought this blog would be the easiest way to share with everyone.

First and foremost, as far as the medical world knows, Hunter's condition is not progressive.

Sigh of relief.

We do however, after five years, finally have an underlying diagnosis.

It is called congenital fiber type disproportion.

Congenital meaning existing at birth, and fiber type meaning the two different types of fibers our muscled consist of. We have type I and type II fibers, under normal circumstances, our muscle fiber types are congruent in size and number. In Hunter's case, as it turns out, his type I muscle fibers are smaller, and greater in number, than his type II fibers - thus the disproportion aspect.

This disproportion results in muscle weakness. The doctors are now saying that this weakness caused a lack of fetal movement, which in turn caused the contractures of the joints. (and yes, I did report lack of movement to my ob, and I was told there was nothing wrong and I was just worrying because I had nothing to compare it to - I'm not sure I'll ever be over that one)

Anyway, the prognosis is good. This condition is extremely rare, so there isn't much info on it at all. We were told that the best thing to do for Hunter is to keep him moving - this is great news as Hunter is such a sports nut! As far as medicine knows right now, the condition should either remain static or improve slightly.

This link provides a good overview:
http://www.muscular-dystrophy.org/about_muscular_dystrophy/conditions/115_fibre-type_disproportion

So that is the update on Hunter. It is a good feeling to finally have a legitimate cause for Hunter's mobility issues. We will continue to keep Hunter moving, mostly through sports, and especially with swimming.

Thank you so much for all of your thoughtful words and prayers, they mean the world to us. To see that so many people care so deeply for our son is a huge blessing, and we are grateful every day for that.

Thanks for reading this post :o)