Thursday, April 30, 2009

Our Diagnosis

Sophie was born January 26, 2002. She was a healthy full term baby who weighed in at 7 lbs. 5 oz. Because she was not doing what babies her age were supposed to be doing at 2 months old, I had taken her to see a pediatric neurologist in Indy and he did a CT scan on her. His words were to me, "Bar any unforeseen circumstances, like falling off a horse, your daughter will never have to see me again." No offense to him, but boy was I glad. And boy was he wrong. Well, I guess it's how you look at it. I guess we didn't see him again. Sophie turned 6 months old and was still not hitting developmental milestones, so I requested an MRI from our family doctor. He ordered one and sent the images to be read by a doctor at Riley, who over the phone, told me my daughter had Periventricular Leukomalasia. Write down any questions and set up an appointment in 2 weeks. Really, that time in Sophies life is a blur. Doctors visits, blood work, and genetic screening. Nothing worth noting the doctors said. An anomaly. She wasn't premature, there were no brain bleeds and she didn't suffer from a traumatic birth. We were not new to parenting, Sophie is the youngest of seven. My husband and I decided to see Dr. Escobar at St. Vincents for another opinion. We heard he was the best. He ordered an ABR, swallow study, sleep studies, checked for a variety of syndromes and the the PVL diagnosis stuck. Dr. Escobar kept saying things like Sophie has a large soft spot, small features, low set ears, deep set eyes...I think something was always tugging at him. April 2, 2009 he asked us if we wanted to do another round of genetic testing. He said that science and technology were far more advanced than they were almost 7 years ago. We went right down to the lab, had the blood drawn and we went home 4 vials short of blood and an MRI scheduled in two weeks. I called him back this past Monday and the genetic blood work was back. Her new diagnosis is 1p36 deletion syndrome. All her chromosomes were fine, except the first one. The top portion of Chromosome 1 was lost, gone, not there, missing...No idea what that meant. Until I hit enter in my search engine. WOW!!! 8% of the human DNA is in that #1 Chromosome. Seems like a lot to me. I know that the past 7 years sure fell into place right then and there. Photos of children I had never known existed, looking A LOT like my daughter. One girl I found could have passed as a twin to Sophie. The more I read the more I cried. Not sadness, well maybe some, but mostly relief. I realize 100 documented cases isn't a lot, but it sure beat the sense of no reason what so ever. I have poured over this site for 3 days now. Trying to learn as much as I can so that when we go see Dr. Escobar on Monday Ill have my pad of paper loaded down with questions. Then to top all this off, there is going to be a conference. A conference 45 minutes away. There is so much I want to say, so much I need to learn...what a great place to start. kim