Saturday, March 16, 2013

Trisomy 14

Trisomy 14 Awareness, Featuring Elijah, with Trisomy 14! 

Elijah was born January 23, 2010 via c-section. He was 7lbs 4 oz 19" long. His APGAR scores were normal. No one noticed anything different about him. After bringing him home he finally opened his eyes at 5 days old. I noticed he looked a little different from my older two children. He looked like he had Down Syndrome! My husband also thought this. I searched the internet and looked through all the pictures I could find... the only thing about Elijah resembling features of Down Syndrome was his eyes.I mentioned this to our pediatician but they brushed off my concerns. "I don't think so" they said. I contacted VCU/MCV Hospital and scheduled an appointment with the Genticists. It would be more then two months before we could see them.At 2 1/2 months old I noticed Elijah's feedings decreased to an ounce per feeding. He wasn't growing either. I went to the Pediatrician on a Friday and told them he was only eating an ounce per feeding for the last few days. They said "keep chart of it over the weekend and call us next week". That wasn't going to work for me.I called VCU Genetics and told the Coordinator that I would be going to their ER and requesting a Genetic Consult. That evening Elijah was admitted into the Hospital and diagnosed with Down Syndrome, either Translocation or Isochromosome, they could not be sure at the time. He had tons of testing with only minor health issues.Two years later Elijah had a bone Marrow biopsy done. After the results came back he was ok, he didn't have any serious issues. They also did a Chromosome Analysis, it indicated that he did not have a translocation but an Isochromosome, however in his first cell line he had the Mosaic form of Down Syndrome, "Partial Down Syndrome" and in his second cell line he also has Mosaic Trisomy 14.Elijah is the only known case of THESE two particular coexisting Chromosome disorders. Individuals who are "Mosaic" have two cell lines. He does NOT have true Trisomy. He's even more Unique because in both of his cell lines he has an Isochromosome. An isochromosome is a chromosome that has lost one of its arms and replaced it with an exact copy of the other arm (on the same chromosome) so a normal 21st chromosome, and the second 21st chromosome with the extra chromosome material attached, no third chromosome present. His 14 chromosome in the second cell line is the same. He only has 46 chromosomes. He doesn't have a true trisomy but it is still referred to as Trisomy. Its rare. IT HIT ME, If Elijah was ONLY born with Mosaic Trisomy 14 their would not have been any resources for me. No support, nothing. Mosaic Trisomy 14 is very rare, there are only about 28 cases documented in Medical Journals. This organization was created so that ALL families with children with ANY type of Special Need WOULD have Support, Resouces and Information. A place that doesn't only target one type of disability but ALL. Elijah is enjoying life like most kids. He's really not much different then a typical child. He is happy, stubborn, gets into everything, loves music, football and chocolate milk. He is a blessing. Each day he shows me just how special he is.

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