New here, ?'s about genetic testing
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|Wed, 05-10-2006 - 9:38pm|
I'm Mindy, mom to Braeden, who will be 3 on June 6. Where do I start? My pregnancy, I guess. My pregnancy was complicated by my kidney disease, and I developed excessive amniotic fluid, so I had ultrasounds every week tward the end of my pregnancy until the last one determined Braeden had stopped growing. I was induced at 37 weeks, and Brae was 5 lbs, 5 oz, 19 inches. The nurses kept asking if I was sure I was 37 weeks because Brae acted more like a 34 week old baby (we got pregnant with the help of fertility drugs and procedures, so I actually know my exact conception date). Braeden had some trouble breathing and his whatchacallit scores were low. I remember they had to use the breathing bag thing on him.
Last year, we went through a whole bunch of tests through the ND clinic, and it was determined that Braeden suffered some brain damage, either prior to birth or at birth. We know he has hypotonia with foot pronation (he wears braces on his legs and uses a walker to walk when he wants to-- mostly he knee walks). He has acid reflux disease (he is actually having a Nissen done soon- we meet with the surgeon to schedule it tomorrow morning). He has food allergies to milk and eggs and strong oral aversions, so he is 100% g-tube fed right now. He is non-verbal and I was told he is possibly somewhere on the autism spectrum, but that diagnosis isn't yet official. He learned to roll over at 7 months, sit up at 14 months, crawl at 19 months, and I am very, very proud to say that in the last month, he has taken his first few independant steps, and learned to crawl up on furniture. He knows 3 signs (bath, all done, and music) and we are working on many more. He is in birth to three right now, but will be starting school the end of this month.
When we first started seeing our developmental pediatrician, she talked some about genetic testing. At the time, we said no, because our insurance would not cover it. The genetic doctor at the hospital we use then left, and since then we have learned about the Katie Beckett program, so Braeden recieves medical assistance now through that, and last year when Brae's g-tube was placed, I quit my job to stay home with him and so now we are covered under my husband's insurance (we had been using mine). The hospital hired a new genetics doctor, and now Braeden's doctor would like us to think about genetic testing again.
I'm scared! What if they tell me something I don't want to know? What if they say his problem is the fault of my kidney disease, or worse, tell me that he has some syndrome and is expected not to live past 12 or 20? I don't think I can handle that. So, everyone around me is telling me all these really good reasons to go ahead with it. Like, maybe they will find something and then be able to treat him with a special diet, or a new drug, or a new therapy. Maybe an official diagnosis would open the door for more services available to him. His speech therapist from B-3 will also be seeing him for summer therapy, and she says an official diagnosis would make her prior auth so much easier, but then told me that she thinks the only real reason we should go ahead with this is if we decide to have more kids (at this point, between my disease and the thousands of dollars we put into fertility treatments, I'm thinking Brae will be an only child).
So, I guess my question is mainly about whether or not any of you did any genetic testing and how things turned out. If so, looking back, would you do it again? If you didn't do genetic testing, do you wish you did? Any other advice, words of wisdom, etc, etc, etc, would be greatly appreciated.