Amaris Christine Gonzalez
Age: 6
CS type 2
Weight: 28 pounds
Height: 37 inches
Amaris says, “My favorite things to do are riding in my car, going to school, and swinging. I love to watch my favorite movie “Dumbo” at 3 AM, while eating Oreo’s in bed with my mommy.”
Amaris was born January 23, 2003 on her due date by c-section. She weighed 5 # 12 ounces and was 18 inches long. Her apgar was 9 and 9. She was perfect. She was a healthy baby and nursed well. I suspected something was ”up’ when she was about 10 months old when she seemed to not be reaching her milestones as fast as the typical baby. A developmental pediatrician agreed and we began the testing journey. Amaris was suspected of CS in December 2004 by doctor’s atTexas Children’s in Houston. It was then ruled outby an MRI that did not show the typical brain and white matter patterns and because at that time she did not meet enough of the diagnostic criteria. She actually was still on the growth charts, but barely. A year and a half goes by and she begins to fall off the charts and ‘grow into the look’ of CS. We then learn of the CS blood test and had that drawn in August 2006. The blood test was negative for finding the CS gene. We then revisited a Genetic Ophthamologic at Baylor in Houston who was able to to diagnose CS by appearance and because she met enough criteria by that point. That was in the fall of 2006. She had another opthamologist appointment recently who said she doesn’t have the pigmentary retinopathy and no cataracts, but that he agrees she has CS. We will go to Texas Childrens again in August of this year and have been approved to FINALLY send the skin biopsy to Dr. Neilan to hopefully get more information.
