KEARNEY, Mo. -- A 4-year-old girl is the first known case of a genetic syndrome so rare, doctors in the United States say they've never seen it before. Brooklin Altis already has had surgery on her eyes. And next month she's traveling to Philadelphia for surgery on her hip. All because she was born without part of a chromosome that doctors say they've never seen missing before.
"It's never been recorded," said Cori Altis, Brooklin's mother. "None of the doctors we talked to have found any other case like hers."
A speech therapist works with the little girl to help her learn how to form sounds. It's not known whether Brooklin will ever be able to speak, but her parents aren't willing to give up trying. In addition to speech therapy, Brooklin also has had vision therapy, occupational therapy and physical therapy.
"She is missing a part of her 9th chromosome," her mom said. "So it's called 9-Q deletion syndrome. It also doesn't have a name so it's syndrome without a name. It's just 9-Q deletion syndrome."
Brooklin suffers from a host of developmental delays. She's only 25 pounds with a very tiny head size. She can crawl, but can't yet walk, in part because she has dislocated hips that will require surgery to correct. The family has been traveling back and forth to the Children's Hospital of Philadelphia, where they have found a doctor who studies the 9th chromosome and a surgeon who can repair Brooklin's hips.
"I worked for close to 10 years, then decided that with her syndrome I needed to stay home with her," Altis said. "I need to have my hands in all her therapies going on. We decided as a family I would stay home with her. Going from a two income family to a single income family has been difficult."
The family does have health insurance, which has helped tremendously. But the travel back and forth to Philadelphia is draining the family's resources. Altis says the support of friends and family enables them to continue treatment Brooklin needs.
Brooklin has her own Facebook page that family and friends have set up. To learn more about her click here. A fund also has been set up to help her family. You can go to any US Bank branch and contribute to "Brooklin's Fund."