A few P&PT?

iVillage Member
Registered: 01-17-2007
A few P&PT?
16
Fri, 10-22-2010 - 8:39am

Hi all! I just thought I would come and ask for a few P&PT.

We took Ry to the geneticist yesterday (he hadn't been since he was a few weeks old), because his doctors and therapists seem to think his delays are too severe to be caused solely by SPD (though he definitely has SPD). It turns out, the geneticist hadn't tested Ry for Fragile X syndrome during the first and second rounds of testing. We thought she had. Oops.

Anyway, so she's running that test and testing for metabolic disorders that aren't covered by the newborn metabolic screening (which he passed). If those come up negative, she'll recommend a micro array test which will cover several thousand genes and show any damaged or redundant areas.

We're not so concerned for Ry. He is who he is and we love him that way. He's healthy and strong as a horse, and though he is severely delayed in the areas of speech and fine motor, moderately delayed in gross motor and adaptive skills, and mildly cognitively delayed, he is making progress and we see and celebrate his efforts.

We are seriously concerned about baby #2 who, as I understand it, would have a high probability of expressing the full mutation of Fragile X if that is what Ry has. It is possible to have the full mutation of Fragile X and not display any symptoms, or display mild symptoms such as social awkwardness and difficulty with mathematics and visual/spatial awareness. It is also possible for the full mutation of Fragile X to cause severe permanent mental retardation. Yikes.

The encouraging news is that Ry doesn't display many of the symptoms of Fragile X. Boys with Fragile X typically have elongated faces with prominent chins and large, prominent ears, and that pattern does not fit Ry's round, little features at all. He also doesn't have seizures or compulsively bite or flap his hands, or throw excessive, uncontrollable temper tantrums. The only symptoms of Fragile X he does display are sensory processing issues and developmental delays. So, this may not be the answer.

Anyway, if you could send some P&PT our way, we'd really appreciate it! If he does come up positive for Fragile X, at least we'll finally have an answer and we can make preparations for the new baby to be tested after birth (s/he could be tested in utero, but since the range of severity of symptoms is so large with Fragile X, we don't think the risks of CVS/amniocentesis are worth it), and get hooked up with EI if necessary.

We should have the results in 2-3 weeks...Thanks!

wttg

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iVillage Member
Registered: 11-01-2005
Fri, 10-22-2010 - 9:49am

Many prayers for your family Megan!!!

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iVillage Member
Registered: 09-08-2007
Fri, 10-22-2010 - 10:57am

Megan, I'm hoping that either Ry does NOT have fragile X, or that he has only a mild expression and that the new baby has absolutely standard genes.

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iVillage Member
Registered: 08-24-2005
Fri, 10-22-2010 - 12:37pm
Megan, I'll keep all your family in my thouhgts and prayers, and I hope baby #2 arrives super healthy to this world.

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iVillage Member
Registered: 07-15-2004
Fri, 10-22-2010 - 1:28pm

Thanking about you and your family Megan. Let us know what you find out!

 Cassie 

     

iVillage Member
Registered: 01-29-2008
Fri, 10-22-2010 - 3:56pm

Thoughts to you and the family!


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Thank you Dedi and Kelly for my
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iVillage Member
Registered: 02-27-2008
Fri, 10-22-2010 - 4:07pm

Thinking positive thoughts and sending P&PTs to you, Dylan, Ry and Baby #2!

iVillage Member
Registered: 03-08-2008
Sat, 10-23-2010 - 12:02am

Lots and lots of positive thoughts your way.






iVillage Member
Registered: 12-23-2003
Sat, 10-23-2010 - 1:27am

I will definitely be thinking good, good thoughts for all of you!!! I hope the test results end up saying no fragile X for Ry or the baby. (((((hugs)))))

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iVillage Member
Registered: 04-13-2008
Sat, 10-23-2010 - 6:30am

Megan, I will be thinking of you and your family! I hope they won't find that Ry is Fragile X (by the sounds of it, it's not very likely as I'm sure he would display more of the symptoms) and that baby #2 will be completely healthy. Keep us posted!

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iVillage Member
Registered: 01-17-2007
Mon, 11-22-2010 - 4:31pm

Well, all the tests came back negative, yay! The geneticist said the only thing we haven't covered yet is the micro array. She said we should take a break for the holidays (I agree!) and to call in January and make an appointment. We'll decide at that point if we want to run the micro array (which will depend largely on if our insurance covers enough of it).

Good news so far :).

wttg

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