I've decided to start blogging again. I can't guarantee how long it will last this time, but I thought I'd try and stick with it. There are just too many cute things the kids are doing to not record them.
However, I thought an appropriate start would be to blog the results of William's X-Rays from UCLA. We were supposed to get the results in one to 4 weeks...three months later (and me feeling a bit guilty for stalker calling the genetics department) we finally got some results yesterday! They have pretty much all but ruled out the more serious of the two forms of dwarfism we were looking at. We are now looking pretty seriously at Hypochondraplasia. This was really fantastic news for us. His spine and skull were non-remarkable. Which means nothing wrong. His legs, at the time of the X-Rays, were proportionate. His arms, however, have proximal shortening. This means that the bones in his arms from the elbow to the hand are short. They are the same amount of short in each arm. I asked if this could be something else. Apparently not. Because they're the same amount of short and it's in both arms we are definitely looking at some sort of disorder.
I've done a bit of research on hypochondraplasia. There isn't too much scary about it. The short and long of this disorder is that the cartilage in his body has a hard time forming into bone. He will probably be around 4'10" - 5'4". A lot of children that have it do develop bow leggedness, but mostly grow out of it. The bones sometimes have problems in their sockets. Most children aren't diagnosed until Toddler hood when they stop growing. We think that because William was in such an amazing NICU unit for so long we caught it at the beginning of his life. Funny how sometimes such horrible tribulations turn out to be such amazing blessings. William will have to stick with the physical therapy for awhile, but we've already got him started in that, since he isn't hitting his milestones. There may be surgeries. There is conflicting evidence that about 10% of people that suffer from this disorder have some sort of mental retardation. However, like I said that's conflicting. The experts are starting to really challenge that from everything I've been reading.
So the next step is getting authorization from our insurance company to do the genetic/DNA test. Once that gets sent off it will take anywhere from 6-8 weeks at the earliest to get those results. In the meantime, I kind of got the feeling that we would be referred to Cedars Sinai Hospital, which is a large hospital out here in the L.A. area. They have a specialized Skeletal Displasia Unit....which I suppose is the clinical form of dwarfism. (There are over 400 different kinds of dwarfism. Some are lethal, some have shortened life spans, some have organ problems and some have very serious mental retardation.) When William was being evaluated for the first time at UCLA we had two doctors from that unit looking at him as well, because there was a conference on Dwarfism that day. God's mercies are never ending.
We are quite encouraged with the news and are feeling better and better all the time. I doubt we'll have any results before October when his birthday is. I try and keep that in the back of my mind so that I don't get too anxious. It is incredibly comforting to know, however, that God made my little guy exactly as God wanted him to be. You can't ask for much more than that. :)
Showing posts with label William's Medical. Show all posts
Showing posts with label William's Medical. Show all posts
June 19, 2009
William's UCLA
Posted by Angela Torres at 2:53 PM 1 comments
Labels: William's Medical
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