Hampton's Story: living with a rare genetic disease

Hampton's Story: living with a rare genetic disease

AMARILLO, TX (KFDA) - Hampton Jack Bowling is not your average 3-year-old, in fact he's not average at all.

Hampton is one of 68 people in the United States to be diagnosed with the rare genetic disease, Rothmund-Thomson Syndrome.

According to the Baylor College of Medicine, 11 cases of Rothmund-Thomson Syndrome or RTS have been reported in Texas, and Hampton is the only one in the Texas Panhandle.

RTS can hold many symptoms, in Hampton's case it affects his stature. Even though he is three, he is about the size of a 12 month old.

It also impacts his ability to grow hair. He is also more prone to visual complications because of cataracts on his eyes and due to the condition he may never have the ability to have a family.

"We knew when he was born that something was wrong, he was born at only four pounds, even though I carried him at full term," Hampton's Mother, Cara said.

Many physicians seem puzzled as the Bowling family jumped from doctor to doctor to get screening and testing done weekly.

Once the family visited the Boston Children's Hospital a geneticist diagnosed Hampton with RTS when he was 16 months old.

"Every doctor that we have seen, has just scratched their head," Cara said. "They have not been able to tell us, what to expect. It was new for them too. So, everybody is on the journey with us. So, that's how rare it is."

Hampton can walk, run and is like any other child.

He is relatively healthy and is going to therapy and attending a preschool program for children with disabilities to work on his communication and motor skills.

"There have been some tough moments but we don't live in a state of devastation," Hampton's Father, James said. "We live in a state of 'what does tomorrow hold?' We have no doubt that Hampton has a bright future but we don't exactly know what that looks like."

There are two types of RTS and both are associated with the characteristics Hampton has.

He has been diagnosed with Type 1 RTS, which is less susceptible to bone defects and cancers.

But Type 1 is more likely to grow cataracts and physicians at Baylor College believe it is more mysterious, as there could be another gene that causes this strain of the disease.

Hampton's family has taken him to hundreds of doctor visits to keep up with screenings and tests in hopes of advancements in medical research.

But with 134 reported cases in the world, physicians have yet to find a cure.

For those who have RTS, to fight this disease is to work with doctors and continue with frequent screenings.

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