March 07 at 21:30
Orion Withrow looks different from other children. He has incredibly pale skin and hair, thin bones that make walking difficult and is unable to speak. This is because the six-year-old, from Austin, Texas, USA has been diagnosed with a newly identified genetic disorder known as COMMAD.
It leaves Orion deaf and blind, along with a range of problems that affect eye formation and pigmentation in the eyes, skin and hair. It is estimated that fewer than one in a million is affected with COMMAD and, because of how recently it was identified, there is no treatment in sight. Orion was born to genetically-deaf parents, Heather and Thomas, who relocated to Austin from Maryland. When Heather was pregnant with Orion, she and her husband suspected that he might be born deaf. Although their 11-year-old daughter, Anastasia, has normal hearing, their older son, Skyler, 12, is deaf. Initial imaging warned Orion's parents that he likely would be born blind. The MRI that followed suggested their son had Patau syndrome, a chromosomal condition that causes devastating physical abnormalities. 'We just closed that discussion quick,' Heather told The Washington Post through an interpreter. 'It is sad when people think, "Oh well, he is going to be disabled so go ahead and end his life". It's in God's hands. It was not my decision to make, and it wasn't my husband's decision to make.'
On her blog, A Mom's Musings, Heather wrote that Orion was born 'long and lean with snowy white hair and lashes, ice-melting smile, and rich laughter'. Although deaf, Orion's right eye has some light perception. He wears scleral cover shells - lenses that are inserted over his eyeballs to allow the sockets to grow proportionally with his face. He also wears bilateral cochlear implants and attends physical therapy to improve his motor functions due to mild osteopetrosis, or dense bones. Children born to two deaf parents are at a higher risk for getting COMMAD, according to a recently published study. Senior author Dr Brian Brooks, clinical director and chief of the Paediatric, Developmental and Genetic Ophthalmology Section at the National Eye Institute, said these findings are significant. The condition causes Orion to be unable to walk due to his thin bones Aside from being unable to see or hear, his eyes and head are abnormally formed and he suffers from albinism 'It is relatively common for folks in the deaf community to marry each other,' he said. COMMAD stands for Coloboma Osteopetrosis Microphthalmia Macrocephaly Albinism Deafness.
If each person in a deaf couple has this condition, there's the likelihood of a child inheriting the mutation. The result is COMMAD. Only recently identified, it is estimated that fewer than one in a million is affected. There is no known cure or treatment. Because the disorder was only recently identified, there is still a great deal to learn about its impact over a lifetime. Dr Brooks, who estimates that fewer than one person in a million is affected, has seen only two cases - one of them being Orion's. COMMAD can affect the six-year-old in strange ways. Orion's body is unable to distinguish between morning and evening, making him often stay awake at night. Heather said: 'He would think it's morning outside at 2am, and he would want to play at a time when we want to go to sleep.'
On her blog, Heather works to educate people about COMMAD and deaf-blind children. At home, she and the rest of the family use a touch-based version of American Sign Language, using objects such as a baby bottle or a spoon, to communicate with Orion. And although knowledge about caring for the condition is minimal, Heather hopes that her son gives people a greater understanding. 'Orion's life is just as important as everyone else's and we hope he has the same opportunities as others,' she said.