Adler Stilman, PLLC
(888) 873-7173
Free Consultation - Call 24/7
(888) 873-7173

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.

No Comments

Leave a comment
Comment Information

Representing Michigan injured workers since 1979.

Bold labels are required.

Contact Information

The use of the Internet or this form for communication with the firm or any individual member of the firm does not establish an attorney-client relationship. Confidential or time-sensitive information should not be sent through this form.


Privacy Policy

30300 Northwestern Highway,
Suite 304

Farmington Hills, MI 48334

Farmington Hills Law Office Map

Toll Free: 888-873-7173
Phone: 248-855-5090
Fax: 248-855-0424
Email the Firm

Request A Free Consultation