Age 6 ½
2q23.1 Microdeletion Syndrome
I was sitting here thinking of how I can possible put together our story and felt completely overwhelmed. So I’ll do my best to put together a “quick overview” of our story.
After a few rounds of fertility treatments and a miscarriage my husband and I thought we were done. We had our beautiful daughter who was 13 years old and this was meant to be our only child. To our surprise we were pregnant on our own. We couldn’t believe how lucky we were. A few months into the pregnancy we were told William had a problem with one of his kidneys. It was retaining fluid and would need surgery soon after birth. At 36 weeks William was delivered by c-section because I had a pretty bad case of preeclampsia. He was 9lbs 9oz and was jaundiced. After spending 1 day in NICU and almost 3 days under lights we were able to bring our baby boy home.
At a few weeks old he had kidney surgery that helped drain his kidney. His development otherwise seemed a little slow but we thought it might have something to do with his rough start in life. By about 3-4 months I contacted the Birth to Three program just to make sure everything was ok. He was evaluated and they said everything seemed normal. At about 6 months William was still not doing all the “normal” things babies his age were doing so I contacted B-3 once more. They said yes he seems a little slow to catch up but they still were not concerned enough to qualify. Now at 10 months William finally started rolling. We were thrilled but knew there was definitely something wrong although everyone kept saying don’t worry he will catch up. William finally started walking by about 15 months. We contacted Birth to Three one more time and finally they agreed he needed their services. They diagnosed low muscle tone as his main issue. William qualified for special ed services along with speech, OT and PT. William began suffering seizures as well. They started as febrile and then progressed to just seizures all the time. During the time he spent with the Birth to Three program he was tested twice for Autism and both times they found he did not qualify and fell just under the qualifying line. William did make great improvement with the program and was began pre-k at 3 years old. June 2014 William was finally diagnosed with Autism by Connecticut Children’s Medical Center in Hartford CT.
William is now in kindergarten at our local Elementary School and is doing fantastic! Although his speech is still a struggle he has made great improvements. William loves to read and sing, He is learning sight words and doing a great job at it!
It has been a long road but every moment is worth it for my beautiful little boy. We continue to do everything we can to make sure that Williams’s future is bright, beautiful and full of happiness.
Birth hospital/ Bridgeport hospital
Surgery hospital/ Yale new haven hospital
Diagnosis hospital/ Connecticut Children’s Medical Center
Neurologist/ Dr. Nallainathan
Pediatrician/ Children’s Medical Ansonia CT