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salem's story

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Salem - Geneticist Update

2003-10-09 11:48 a.m.

Well now to update ya'll on Salem. Salem had her shots last Thursday. We put off the MMR until 15 months and the Dr. is going to see if he can get it in separate doses. He's not sure. But he didn't hesitate at all when I said I wanted to wait. I haven't decided when/if about the chicken pox vaccine. Not before 15 months and probably not the same time as the MMR.

And now for my news that's had me down in the dumps. Salem also saw the geneticist. The geneticist believes she does have Noonan syndrome. From everything I've been reading it's rather mild in the overall scheme of things but we won't know anything about learning disabilities etc until she is older.

About a 1/3 of Noonan kids have some sort of learning disability while only 10% of those are significantly challenged. So basically it's a wait and see type thing. The geneticist said the good thing about the diagnosis would be we would be able to get her services such as speech therapy (about 30% of Noonan kids have speech delays). I told her about our plans to homeschool and she said the state would still have to help provide speech or OT if we needed it. It looks like Asbergers and other things like NLD are linked to some Noonan kids but it doesn't look like we have to face any of that.

Can you believe her blue eyes and curly hair are also markers for this?

This is a very good site for this:

Anyway - I won't lie and say I am not stressed over these. In fact, I'm kinda feeling sorry for myself and my little girl especially and the challenges that could be ahead for her. I'm mad too. We've been through hell and back with infertility, IVF and the pregnancy we had. Geez - don't we get a break sometime soon?

And I know I need to give in and cry and be mad but I find myself closing down when I start giving in to the feelings. I need to grieve it - like a good friend pointed out. But I don't know how. And somehow I feel guilty even thinking about doing that. As if by allowing myself to do that I would be betraying Salem. Does that make sense in a warped kind of way?

Salem is perfect to me even with all these issues. She's a beautiful little girl - charming and so much fun and I love her more than my life. Her heart condition is being mananaged well and it's not affecting the quality of her life. So for now I'm going to deal with it, do my best to overcome any obstacles we face and pray for the best.

Her geneticist did say that many Noonan kids grow up to be high functioning adults, attend college, get married, have families, etc. Although she would have a 50/50 chance of passing the gene on to a biological child. is so freaking unfair at times.

October 11, 2006 - 2006-10-11
Back from Vacation - 2006-07-18
July 3, 2006 - 2006-07-04
Parenting is Hard - 2006-06-30
Update June 23, 2006 - 2006-06-23