James: Adams-Oliver Syndrome

james-first-day-of-day-care

My son James is a happy 3-year-old boy in USA. The day he was born we saw that he had a spot on the back of his head. None of the doctors in his pediatrician’s office knew what it was but when he began to lose weight and fall behind in his milestones I knew something was going on.

Two years later, James’ pediatrician referred us to a dermatologist, a neurosurgeon, a plastic surgeon, a cardiologist, and a geneticist. The dermatologist told me that the lesion on the back of my son’s head was an Aplasia Cutis Congenita and that is was a good idea to see the other specialists. Two weeks later, James had chromosome bloodwork done, an MRI/MRV and a complete cardio work up done. The geneticist looked over the blood work, which was all normal, as well as did a physical exam. Based on all the information he had, he made a diagnosis of Adams-Oliver Syndrome. This is a rare genetic syndrome that causes problems with limbs, the brain, the heart, development, eyes, and ears. James had hearing loss, has development issues, balance issues, spots on his brain and the aplasia.

Adams-Oliver Syndrome has only about 130 documented cases since 1945 and the information on the internet was generic information or so complicated to read that I didn’t understand it. I tried searching for support groups and had no luck. James needs to have yearly MRI’s done to watch the spots, he needs yearly heart work ups, and he needed two separate surgeries to remove the Aplasia and to insert tubes into his ears. He gets weekly speech therapy and physical therapy. Over the last year since his diagnosis James has seen 15 specialists and currently needs to see three more in Boston Medical Center. Seeing my little boy struggle to communicate and get so upset with himself when he can’t figure it out. My son will struggle his whole life which breaks my heart.

James is a typical boy who loves to run around outside and get into trouble. He loves hunting for worms, pretending to hunt monsters. He enjoys watching Ninja Turtles, Paw Patrol, and Dinotrux and acts them out when he plays. He is strong-willed and loves to learn. He is incredibly good at matching colors and pictures to each other. I wish I knew how to help him more and ways to bring awareness to his syndrome so maybe when he has children there will be medicine or better tests or even a cure for Adams-Oliver Syndrome.

 

-Theresa Garvey & Season Atwater from Aware of Angels

Season Atwater is married with 4 amazing children. Her daughter Asia, at the age of 7, was diagnosed with a rare genetic disorder called 2q23.1 Microdeletion Syndrome. At that time, Season decided she wanted to be a patient advocate for the Rare & Undiagnosed and started a nonprofit organization called Aware of Angels. With a background in photography, she began providing photography services to children who had a rare, genetic or undiagnosed medical condition. The Aware of Angels Photography Project raises awareness on a global level not only for their diagnosis but who they are as a person, capturing their beauty and personality. Families are gifted life long memories and Season uses their images accompanied by a write up to raise awareness on her website and in portrait galleries; to date she has photographed over 50 Angels. These images have been used everywhere from gallery displays, television & magazines to blogs & websites. Getting to know these children, and their families has been a highlight of her photography career.  You can inquire with Season on photo-shoots and portrait gallery collaborations at childgenetics@gmail.com or Visit her website at awareofangels.org