EVENT DATE: Oct 08, 2016
~ Elijah's Story ~ He was a surprise baby #3... he was born January 23, 2010 via emergency 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 so. 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 contacted VCU/MCV Hospital and scheduled an appointment with the Geneticists. It would be more than 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 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. He had tons of testing with only minor health issues. He changed our lives in so many ways. It was a roller coaster of emotions especially the first year. (other special needs mom's know what I mean all to well.) What I thought was devastating news in the beginning has become the opposite. I knew nothing about chromosome disorders until I had Elijah. In the beginning so many things went through my mind. What did I do wrong? How could this happen to our family? I was so sad, I wasn't able to function as well. I am self-employed and lost business because I wasn't available to my customers. My priority became Elijah and the constant doctor's visits. I was stressed and constantly worried. It took me a while to get back on track. Almost two years after the initial diagnosis, Elijah had a bone Marrow biopsy done. The results indicated he didn't have any serious issues. They also did a Chromosome Analysis, it indicated that he had an Isochromosome. It also indicated that 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 but it is still referred to as a 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). You have a normal 21st chromosome, and the second 21st chromosome breaks leaving a long arm and the short arm "disappears", the 3rd chromosome breaks leaving the long arm and the short arm "disappears", those two long arms attach to form 1 chromosome with 2 long arms, you're left with 2 21st chromosomes, no third chromosome present after this happens. He doesn't have a true trisomy but it is still referred to as Trisomy. It's rare. The National Institute of Health has also done a case study on him for Medical Journals.