New AS Diagnosis, wanting to find a support system

[Tristansmommy]

Hi, my name is Melissa and my 19 month old son, Tristan was just diagnosed April 23,2012 with AS

He has had a hard time since he was one month old. He was hospitalized at 1 month 1 day with eating problems, agitation, "pain" and not sleeping. I took him to his PCP a couple times a wk and they kept telling he was just a fussy baby but I knew there was something else.... Once he went to CMH he was hospitalized and evaluated they said he had the most serve reflux they had ever seen, he refused all feeding and finally got a mic-key button (feeding tube) they ran every test known to man on him bc they said they knew something wad wrong with him but everything kept coming back negative! All he did was scream and stay clenched, hand, arms and feet he never relaxed and slept maybe 20 mins in 24 hrs.
He had 3 spinal taps for rare genetics testing and full body scans everything was always negative or normal.

After 4 months we were home with no diagnosis and very slowly he started to improve on agitation and sleeping. We've done PT and OT since he cam home and he started getting strengh and advancing but was still not advancing " as he should"
He does not speak or walk and has the greatest smile and laugh in the world!!!

They did Chromosone testing while he was in the hospital but it was all normal (at 2 months) we went back into genetics for a follow up and they decided to check for AS and a couple other syndromes, AS came back in 3 days positive, they said the reason it wasn't checked prior to was bc the other test came back normal

Tristan's break down on his Chromosone 15 is he took 2 paternals and 1 maternal and the body can't tell the difference and got rid of mine bc his body only needed 2..... It was explained to me that they r like light switches and the paternal is always off and the maternal switch is always on so since he has 2 paternals they are both off and that equals- uniparental Disomy, AS

Sorry for the long history but I thought it may help someone else with the same symptoms

I hope to hear from others parents, I think support is the key!

[Kerryn]

Hi,

And welcome to the club!

You'll find heaps of support here, and feel free to ask as many questions as you like. Tristan's smile and laughter will make everything ok in the end

Kerryn
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Kerryn -
Mum to Brianna, 11/12/04 Olivia, 22/02/08 (ICM)