I have a huge long detailed post written out on another board. If anyone is that interested I'll copy and paste. Otherwise- you get the short condensed version. LOL!
Re: spots- he has a lot. LOL. She measured some, looked over his body really good to find them all (and pointed out some I hadn't even noticed!). Basically we watch and wait. There's a test we could do (blood test) to see if he has Neurofibromatosis. But it has a fairly decent false negative rate. And there is no cure for NF at this time. So, basically what that means, is if it came back positive she would tell us to wait and watch (and continue yearly eye exams). If it comes back negative she's going to tell us to wait and watch (and continue yearly eye exams). We are not having this test done. I see no reason to, right now, since the outcome will be the same. Right now we will continue watching for the other signs of NF and continue yearly eye exams to watch for tumors in the eyes.
Re: eye disease- The geneticist says that Owen has a 50/50 chance at having the retinitis pigmentosa. This is in his fathers family and goes back at least 5 generations (that they've been able to trace) and has hit every single person. It hasn't skipped anyone. Now, this sounds like a really scary thing and, honestly, has scared the crap out of me for years. But, as the geneticists explained, it's like flipping a coin- sometimes you get lots of heads in a row, sometimes you get lots of tails and sometimes you get an even number. Matt's family appears to have had a long stroke of bad luck. But it doesn't mean Owen will be part of that. While, unfortunately, there is a 50% chance he has it, there's also a 50% chance he doesn't! She cannot do the genetic testing for that. If/when we decide to we will go to Harvard to have it done (matt's family is part of a study and they (people at Harvard) have already expressed interest in testing Owen). Right now we continue yearly eye exams to watch for signs of it. If he has it they wouldn't expect to see any signs of it until teenish years.
The geneticist is strongly urging me to consent to chromosome testing. She said that with Owen's developmental delays there may be something else going on that we hadn't thought of yet. I am torn on this issue, but I'm leaning towards consenting. It's such a complicated issue when you take everything into consideration. Nobody wants to think there's anything "wrong" (how I hate that word) with their child. But on the other hand- no mother wants to find out years down the road that something is "wrong" and they could have done something all these years to help him.
Anyway, that's the short version
2 comments:
wow. What would be involved in the chromosome testing? Like a lot of drawing blood? I get both sides of how you are feeling. I know you don't want to find out anything is wrong. But you'll be kicking your self in the ass down the road if you do find out that you could have done something. And plus, even if they do find out something isn't quite right, not the same as everyone else, everyone who loves him knows there is nothing "wrong" with him. He's perfect the way he is. :) Hang in there.
Yes, the chromosome testing would be a blood draw. I have the order to do it, but I refused to do it on Friday (they wanted us to do it after his appointment). I'm not a fan of saying "Suprise Owen! I know I didn't give you any warning but we're going to hold you down and poke you with a needle". I'll wait until this week, probably, and do it after I've discussed with him what will happen.
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