Let me start from the beginning. When Nate was born he has fluid in his ears. By the time he turned 14 months he had 3 double ear infections. He didn't crawl until he was 12 months and delayed in his speech. So we decided to put tubes in his ears. Wow that made some difference. Some speech started to come. I thought wow we should have done this long time ago. He was receiving speech services thru First Steps. Nate's speech was doing better but he was delayed in all other areas.
When Nate turned three he was put into a Developmental preschool. On the first day the teacher noticed him having staring spells. So the next week Nate had a EEG done. That came back that it was abnormal. So off to Riley we go to see a specialist. The Neurologist we was sent to was awesome. She told us that with Nate history we should have him tested for Fragile X. Randy and I decided not to do the test. We never heard of Fragile X. So I come home and did some research. Not sure where to look first I didn't even look.
Well we go back every 6 months to see the Peds Neurologist. She would ask every time about the test. This time when we where there I had concerns about Nate. He was have meltdown after meltdown. His speech was coming but still not using full sentences. I was getting frustrated. I was starting to notice he was not like other 4 year olds. Hell my 2 year old was more advanced then Nate. Finally last October I finally had him tested. Well the test come back that he did have FX and it was Full mutation.
Fragile X syndrome is the most common inherited cause of mental impairment. It is the number one cause of Autism. Full mutation means that his DNA repeats over 200 CGG.
When we got the results I was happy we had answers. Randy was not happy about the results and not happy with me. Since FX inherited that means I am a carrier. I didn't know that b/c I opt out of the testing when I was pregnant.
Since we found out about Nate and Fx. Our world has changed alittle. For me it helps me understand him more. It also means that the girls might be carriers also. I have not tested them. They seem to be fine. So that is our story. I have a habit of rambling. You want to read more about FX please visit http://www.fragilex.org/.
Hope everyone has a great day:)
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