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We have a diagnosis

post #1 of 8
6/18/11 at 5:36pm
Thread Starter 
i just joined this board the other day. The results of my sons genetic testing came back and confirmed our worst fears. He has a condition called ponto cerebellar hypoplasia. This is a degenerative condition. It is also very, very rare (around 80 cases worldwide). If any of you have a child with a degenerative condition any advice you could give would be great.
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post #2 of 8
6/18/11 at 7:13pm

I am very sorry. Ask you doctor about clinical trials.

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post #3 of 8
6/18/11 at 8:16pm

I too wanted to say I am so sorry about your precious child (((((hugs))))) . I wish I could offer some kind of advice, we are here for you!

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post #4 of 8
6/20/11 at 5:46pm

I'm so sorry you got an answer that sucks. I agree with the PP, ask about clinical trials and try to stay in the moment. 

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post #5 of 8
6/20/11 at 7:32pm

I don't know if you would find this helpful or not, but I follow this little girl on facebook and I always find her mother such a source of inspiration. 

 

http://www.facebook.com/TheAnayaInitiative

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post #6 of 8
6/27/11 at 11:39am

Hi there!

 

I don't know if this is helpful, but I am a special needs yoga teacher and I had 15 year old twins with cerebellar hypoplasia in my class.  The most lovely girls!  I did not understand that it was that rare, but in any case, the girls I know have beautiful spirits, great sense of humor, and are a joy to those around them.  One walks, one walks with support.  One is mainstreaming in school this year, the other is in a special class.  Both have challenges with balance and speech articulation.  One did not start speaking until she was 8 and now she calls me up on the phone to give me updates and check in :-)   They take part in lots of activities and really are lovely girls.  Stem cell therapy trials might be something to look into, but I'm not sure it would be that efficacious.  I wish you the best on your journey!

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post #7 of 8
6/28/11 at 9:43am

Hugs to you.

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post #8 of 8
6/28/11 at 12:38pm

Facebook seems to have groups for everything!  My son has a genetic deletion at 16p11.2 and found a wonderful group of parents on facebook.  If there isn't a group - you should start one in case others are looking for support.  {{{hugs}}}

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