Downs Syndrome or Another Genetic Disorder

[babifever]

I had all normal scans thru out the hold pregnancy. At 32 weeks they said the baby stopped growing they were going to monitor me so i had to go in every few days. At 35 weeks they decided to remove my son thinking it was my placenta not feeding him. So I was induced and they said all should be fine. He stayed in NICU 7 days due to low muscle tone he couldn't eat alone and he couldn't keep his body temp even though he was born in July. At 4 months he still wouldn't hold his head and doctors told me it was because he was premature. I didn't believe them and switched doctors. After months of running to doctors one sat us down and told us he believed our son had Coffin Lowry Syndrome but I had to send his blood to France from the US. Took 2 and a half yrs to get the results and it did come back positive. It was a hard diagnosis to swallow and its not a syndrome well known at all. But my son is now goin to be 15 and he is a special kid that everyone enjoys. It has been a hard road but we went through it. When i got pregnant with his siblings It was stressful wondering If they would have the syndome as well since it is a xlinked chromosome disorder. I decided to pass on any testing scared to get bad news or even worse put my baby at risk to do an amnio. I said no matter how they came out i would love them and cherish them. I told myself I was an ordinary person blessed to have this extraordinary being. He has helped me and my family grow and understand many things.

Wow what an amazing story! Thanks for sharing and the encouragement.

Why did it take 2 years for the results?

 

[PrMomma81]

I had all normal scans thru out the hold pregnancy. At 32 weeks they said the baby stopped growing they were going to monitor me so i had to go in every few days. At 35 weeks they decided to remove my son thinking it was my placenta not feeding him. So I was induced and they said all should be fine. He stayed in NICU 7 days due to low muscle tone he couldn't eat alone and he couldn't keep his body temp even though he was born in July. At 4 months he still wouldn't hold his head and doctors told me it was because he was premature. I didn't believe them and switched doctors. After months of running to doctors one sat us down and told us he believed our son had Coffin Lowry Syndrome but I had to send his blood to France from the US. Took 2 and a half yrs to get the results and it did come back positive. It was a hard diagnosis to swallow and its not a syndrome well known at all. But my son is now goin to be 15 and he is a special kid that everyone enjoys. It has been a hard road but we went through it. When i got pregnant with his siblings It was stressful wondering If they would have the syndome as well since it is a xlinked chromosome disorder. I decided to pass on any testing scared to get bad news or even worse put my baby at risk to do an amnio. I said no matter how they came out i would love them and cherish them. I told myself I was an ordinary person blessed to have this extraordinary being. He has helped me and my family grow and understand many things.

Wow what an amazing story! Thanks for sharing and the encouragement.

Why did it take 2 years for the results?

The syndrome is very rare and they were still studying it. Still now the test takes weeks to a few months to come back . But now they test in the US. Good luck and wish you the best !!