He loves dancing to songs, such as Michael Jackson’s Beat It and the Macarena, but he can’t listen to music in the usual way. He laughs whenever someone takes his picture with a camera flash, which is the only intensity of light he can perceive. He loves trying to balance himself, but his legs don’t allow him to walk without support.
He is one in a million, literally.
Born deaf-blind and with a condition, osteopetrosis, that makes bones both dense and fragile, six-year-old Orion Theodore Withrow is among an unknown number of children with a newly identified genetic disorder that researchers are just beginning to decipher. It goes by an acronym, COMMAD, that gives little away until each letter is explained, revealing an array of problems that also affect eye formation and pigmentation in eyes, skin and hair. The rare disorder severely impairs the person’s ability to communicate.
Children such as Orion, who are born to genetically deaf parents, are at a higher risk, according to a recent study published in the American Journal of Human Genetics. The finding has important implications for the deaf community, said its senior author, Brian Brooks, clinical director and chief of the Paediatric, Developmental and Genetic Ophthalmology Section at the US National Eye Institute.
“It is relatively common for folks in deaf community to marry each other,” he said, and what’s key is whether each of the couple has a specific genetic “misspelling” that causes a syndrome called Waardenburg 2A. If yes, there’s the likelihood of a child inheriting the mutation from both parents. The result, researchers found, is COMMAD.
Because the disorder was only recently identified, there is much to learn about its impact over a lifetime. Brooks, who estimates that fewer than one person in a million is affected, has seen only a couple cases. Orion is one of them.
The study’s finding made things clearer for Heather Withrow, Orion’s mother. “It was more like an ‘Oh, cool, that explains it!’ kind of discovery,” she said from Austin, Texas, where the family lives.
When Withrow was pregnant with Orion, she and her husband, Thomas Withrow jnr, suspected that he might be born deaf. While their daughter, 11-year-old Anastasia, has normal hearing, their other son, 12-year-old Skyler, is deaf. Then the results of initial imaging showed their third child would likely be born blind.
A subsequent MRI raised even more worries, suggesting that they were confronting trisomy 13, a chromosomal condition involving devastating physical abnormalities. Her doctor recommended the pregnancy be terminated.
“We just closed that discussion quick,” Withrow recalled 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.”
The couple started to educate themselves about deaf-blindness – a combination that magnifies the effects of each condition. They contacted resources such as Connections Beyond Sight and Sound, a Maryland-based project that helps parents of deaf-blind children. A meeting with one of its specialists was empowering preparation. “It helped us. It let us know that we could celebrate and be happy when he was born, and not be surprised,” Withrow said.
Which is what happened. “We fell in love with him at first sight,” she said. As she has described on a blog she writes, Orion was long and lean, “with snowy white hair and lashes, ice-melting smile, rich laughter.”
Even though he could not see, Orion’s right eye would occasionally react to bright light. At just several months of age, he had special prostheses similar to “jumbo” contact lenses – called shells – inserted over his eyeballs to allow the sockets to grow proportionally with his face. And he started physical therapy to improve his motor functions. By the time he was 18 months old, he was able to keep his head straight, his mother said.
COMMAD explains those problems and others, Withrow now knows. It stands for coloboma (a condition in which normal tissue in or around the eye is missing), osteopetrosis (abnormally dense bones prone to fracture), microphthalmia (small or abnormally formed eyes), macrocephaly (abnormal enlargement of the head), albinism (lack of pigment or more specifically melanin in the skin, hair, and eyes) and deafness.
COMMAD can affect Orion in unusual ways. His body clock keeps its own schedule, his mother said, making it difficult for him to distinguish day and night: “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.”
Such differences sometimes wear down his parents. “Despite all that, everything we do with him and everything he learns is so worth it,” Withrow said.
She frequently blogs about Orion’s experiences – she calls her site “A Mom’s Musings” – to help educate people about COMMAD and help other parents interact with deaf-blind children. At home, she and the rest of the family use a touch-based version of American Sign Language – teaching with objects such as a baby bottle, diaper and spoon – to communicate with Orion.
The caveat of the National Eye Institute’s recent study is that knowledge about how to care for and interact with children who have COMMAD is still in its infancy, Brooks said. “We are trying to understand the best ways to listen to the children,” he said.
For Withow, sharing knowledge is comforting.
“Orion’s life is just as important as everyone else’s,” she said, “and we hope he has the same opportunities as others.”
The Washington Post