Family shares son’s story to raise awareness for rare genetic disorder

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The parents of 12-year-old, David McGlohon, are sharing their son’s story hoping to raise awareness for a rare genetic disorder, called Bardet-Biedl syndrome. 

9OYS met David and his parents, Maxie and David Sr., at the Music Academy of Eastern Carolina’s music camp for kids and youth with autism on Friday. 

At age three, David was diagnosed with the disorder. He is one out of 3,000 people in North America with it. Doctor’s told the McGlohon’s the disorder would start affecting his vision and kidneys, eventually causing blindness by adolescence and leaving David in need of a kidney transplant. 

“Most parents when they get this diagnosis  they create a bucket list and we have David’s bucket list of things we want him to see while he still has good vision,” said Maxie, David’s mother. 

Surfing, adaptive water skiing, horseback riding and music making are all a part of that list. 

“And David doesn’t talk a lot but we feel like we really reach him through music, we have always been able to do that,” she said.

Though David has a hard time talking, his musical vocals come naturally. 

He loves to sing Zach Brown Band and Carrie Underwood, and he enjoys playing guitar, ukulele and drums.

“Just the small things. He is not a child who wants material things, he is just happy,” said Maxie. 

This kind of joy is what his parent’s are advocating for at the state and federal levels. They meet regularly with politicians and congressmen bringing awareness to the rare disorders. 

HR 6421, the Eye Bonds Bill, a potential bill the McGlohon’s support, was recently introduced to the House of Representatives. They say the bill could dramatically increase funding for blindness research.

The duo has also created a Facebook page called Hanging 11 With David: Surfing Through Life With Bardet-Biedl & Autism and a blog as well. They also have a telephone hotline devoted to helping other parent’s who have children with the disorder. 

If anyone would like to donate to support Bardet Biedl syndrome (BBS), they can do so several ways. They can donate on Bardet Biedl Syndrome Family Association or you can donate to CRIBBS (Clinical registry investigating BBS). 

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