He loves dancing to songs, such as Michael Jacksons Beat It and the Macarena, but he cant 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 dont allow him to walk without support. <\/p>\n
He is one in a million, literally. <\/p>\n
Born deaf-blind and with a condition, osteopetrosis, that makes bones both dense and fragile, 6-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 persons ability to communicate. <\/p>\n
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 Pediatric, Developmental and Genetic Ophthalmology Section at the National Eye Institute. <\/p>\n
It is relatively common for folks in deaf community to marry each other, he said, and whats key is whether each of the couple has a specific genetic misspelling that causes a syndrome called Waardenburg 2A. If yes, theres the likelihood of a child inheriting the mutation from both parents. The result, researchers found, is COMMAD. <\/p>\n
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. <\/p>\n
When Withrow was pregnant with Orion, she and her husband, Thomas Withrow Jr., 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. <\/p>\n
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. <\/p>\n
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. Its in Gods hands. It was not my decision to make, and it wasnt my husbands decision to make. <\/p>\n
Even though he could not see, Orions right eye would occasionally react to bright light. At just several months of age, he had special prostheses similar to jumbo contact lensescalled shellsinserted 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. <\/p>\n
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. <\/p>\n
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 its morning outside at 2 a.m., and he would want to play at a time when we want to go to sleep. <\/p>\n
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A mysterious medical condition gets a name - and a genetic link to deafness - Napa Valley Register<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" He loves dancing to songs, such as Michael Jacksons Beat It and the Macarena, but he cant 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 Continue reading