New Mexico girl one of six with rare genetic disorder

HOBBS, N.M. (KRQE) – A New Mexico girl now knows she’s one of only six people in the world with a rare genetic disorder; after years of doctors telling her parents they didn’t know what was wrong.

“It took 13 years because we just barely found out,” Jill Gomez said. “I think I stopped around when she was eight or nine looking for answers. We just took care of her the best we could.”

Alyssa Pennington lives in Hobbs. She’s 13 years old, but she doesn’t look it. In fact, she looks much younger and her parents said even though she’s a teenager, she may never fully look like one. Her story is gaining national attention.

Last November, Dr Richard Walker, an ageing specialist from Florida diagnosed Pennington with Syndrome X. It’s a genetic disorder so rare she’s just one of six people in the world to have it.

There is still a lot doctors don’t know about Syndrome X and continue to research. What they do know is that the disorder keeps patients from aging. Walker was able to discover one single gene that had mutated in each of the six patients. This is part of what led specialists to Syndrome X. Doctors said that find wasn’t easy because each human has six billion genes.

But for Gomez, it was never about finding a diagnosis.

“I mean it was exciting to finally put a name to it, but it didn’t really change anything,” Gomez said. “She’s no different from anyone else except she’s smaller and doesn’t do everything 13 year old’s do.”

Gomez has three other children. Pennington can’t talk, walk or participate in other normal day-to-day activities, but Gomez said Pennington’s siblings always make sure she’s having just as much fun as they are.

The family travels back-and-forth from Texas to New Mexico for treatment. Gomez said they take it day-by-day and hope Alyssa’s story will help others.

“We’re hoping that other families will see this and say, ‘Wow my daughter looks just like that,'” Gomez said. “You know and even if you never find out what’s wrong, it really doesn’t matter because they’re your children, so just take care of them the best you can and love them.”

Alyssa’s story aired on national television for TLC’s new documentary called ‘Girls Who Don’t Age.’ provides commenting to allow for constructive discussion on the stories we cover. In order to comment here, you acknowledge you have read and agreed to our Terms of Service. Users who violate these terms, including use of vulgar language or racial slurs, will be banned. Please be respectful of the opinions of others. If you see an inappropriate comment, please flag it for our moderators to review.

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