Thursday, August 27, 2009

Neurologist Follow Up

Hmft. No real answers. Nothing great to report but nothing bad either. I feel like we are going in a circle. They are doing a chromosomal microarray test to see if there are any abnormalities. The only thing mentioned was Fragile X Syndrome. Honestly, Ian does not fit the profile or symptoms of Fragile X. To read more, click the link below.

Fragile X Syndrome

After reading many things & seeing videos, I can say that I highly doubt that this is the issue. He would have presented problems before the cerebellitis. I know he is going to be fine. They aren't even wanting to see him again for another 6 months. It is recommended that we do go ahead & start speech therapy & try to get his PT upped to more times every month rather than just once a month. I am going to try to get this to happen sooner than later.

I did ask about cerebral palsy. It has just been nagging at me but the neurologist said pretty definitively that isn't the situation. No need for another CT scan or MRI. Seems like we are just going to have to sit & wait for the chromosomal test to come back in a few weeks. Waiting sucks.

I promise to have pictures the next time. We were able to go to a native plant store near by & had a blast. I'll blog about it later.

4 comments:

Miranda said...

Astrid, I am thinking of you all and praying that you'll have negative results for those tests soon.

It's scary having a baby who needs a lot of tests, especially when you don't get any answers. Try to hang in there, I know how easy it is to freak out and diagnose your baby with the worst case scenario while you wait. I am sending you lots and lots of strength from Aus!

Love Miranda & Zeke.

PS: For what it's worth, I had a dream last night that I came to visit you guys when the kiddos were quite a bit older I'm thinking 4-5yo, and Ian was the sweetest happiest little man, and perfectly fine!

Steph said...

((hugs)) to you and your family.

Anonymous said...

Just a word to the wise, a chromosomal microarray test should not be used to test for fragile X, unreliable, chance of false negatives. To RULE fragile X out, insist that they run a FMR1 DNA test (aka Southern Blot with PCR analysis), less expensive than a chromosme test and 99% accurate in detecting FX. Practice guidelines for diagnosing FX are availabe at www.acmg.net

Surviving Triplets said...

Thank you "anonymous" for your knowledge on the topic. I will be sure to ask for this test to rule out Fragile X. I knew if I blogged about it, someone would reach out to us. Thank you!