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New test provides definitive diagnosis for rare genetic disorders

Even with advanced medical diagnostic abilities, it’s not always possible to determine the cause of a child’s impairing condition. This is the situation parents from the Midwest found themselves in when their daughter developed multiple physical and mental impairments but doctors were at a loss as to what was going on.

However, researchers at Children’s Mercy Hospital in Kansas City decided to study the young girl’s entire exome, which is the small portion of the human genome that is largely where most genetic disorders are found. 

It was determined that the girl had a very rare gene mutation, called Bainbridge-Ropers syndrome, and although there aren’t any specific treatments available for the condition, her parents were relieved to finally have a definitive diagnosis.

“It’s like you’re in a dark room and a light, at least a dim light starts to go on and you can see things,” the girl’s father told Disability Scoop. “This is a beginning. I like to call it a unique beginning.”

Last month, Disability Scoop reported that Children’s Mercy Hospital published a study describing how mapping out the genome is an effective way at determining the type of neurological or developmental disorder a child is suffering from when previous tests have been inconclusive.

Not only is having a definitive diagnosis extremely valuable in order to give parents answers and doctors direction on how to treat a child, it is also very important in order for the child to get the financial support he or she needs through Supplement Security Income.

The Social Security Administration demands that applicants prove that they are physically or mentally disabled and entitled to benefits, which can be very difficult to do without a definitive diagnosis. Hopefully, this new way of testing will help disabled children throughout the country get the support they need.

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