Triangle toddler among less than 100 people ever diagnosed with ultra-rare genetic condition

Triangle toddler among less than 100 people ever diagnosed with ultra-rare genetic condition

RALEIGH, NC (WNCN) — A little girl from the Triangle is living with a genetic condition so rare that doctors around the world are still trying to find out more about it.

Thea Halsey has been through a lot in her three years, and her parents don’t know what their daughter’s life will be like, but they say her smile and spirit inspire everyone she meets.

When Thea Halsey laughs, it’s hard not to laugh.

“It makes you want to smile. It warms your heart,” her mother, Hayley Halsey, said, a smile spreading across her own face.

Halsey hopes it’s her daughter’s smile that people see before they notice her feeding tube or hearing aids, only to realize she’s had so many surgeries it’s hard to keep track of them all.

“The first operation she had was the day after she was born,” Halsey recalled.

She and her husband, Andrew, delighted with the birth of their first child, soon realized that their trip would be a little different from what they had planned.

Although Halsey says some of Thea’s tests before the birth showed an increased risk of Down syndrome, other tests came back normal.

After Thea was born, the newborn was rushed to the NICU and then to another hospital.

“It’s not the perfect dream you had to bring your child home,” Halsey noted.

Thea dealt with one medical issue after another – involving her heart, hips, hearing and digestive system, but her gentle spirit helped her parents sort it all out.

“She was always happy and she was always a joy,” Halsey said.

The couple debated whether to do extensive genetic testing to try and find a diagnosis for their daughter.

“We went back and forth, me and Andrew, on whether or not we wanted to do it, but we thought the more knowledge we had, the better it was to help him in the future,” explained Halsey. “I think it was in April or August last year that we got the diagnosis that it was the PHF6 gene mutation, which is associated with Börjeson-Forssman-Lehmann syndrome.”

The condition, also known as BFL syndrome or BFLS, is so unusual that Dr. Cynthia Powell, a pediatric geneticist at UNC Health and rare disease expert, says only between 50 and 100 cases have been documented worldwide.

“There’s rare, there’s ultra-rare and there’s nano-rare, and I think this one would almost fall into this nano-rare where there’s only a very small number of recognized people” , Powell said. She noted, however, that some cases may have gone undiagnosed.

While doctors know the syndrome is caused by a mutation in the PHF6 gene, Powell says scientists are still working to determine exactly what this gene does.

“We think this has a role in what’s called ‘neural migration’, with brain cells positioning themselves correctly as the embryo develops into a baby, and so these cells don’t always seem to go to the right places. . ” she explained. She said the gene may also play a role in turning DNA into RNA.

Until recently, Powell says, BFLS was thought to affect only boys.

“It’s really only been in the last 6 or 8 years that we’ve found out that it can happen in women as well,” she said.

Although she noted that the genetic mutation causing this disorder can be inherited, it can also occur spontaneously, which seems to be the case with Thea.

“Our genes change, our DNA changes for reasons we don’t fully understand,” Powell noted.

There is no treatment for BFLS, which is associated with developmental delays. Thea receives many types of therapy, but since the disorder is so rare, the Halseys aren’t sure what to expect.

“I don’t think anyone has ruled out her talking or walking or anything like that,” Halsey said. “We’re kind of all right on his schedule and pushing for these things, but if they don’t get there, that’s the path we’ll go down.”

They also don’t know if his medical issues – such as a heart defect that recently required surgery – are the result of the genetic condition or not.

“She has issues that we haven’t found before in other patients,” Powell noted, adding that doctors still have a lot to learn about the disease and each diagnosed patient can provide valuable insights.

“The more we learn,” Powell said. “The more we can help other families in the future.”

As Thea grows, her experience may one day teach doctors more about BFL syndrome, but at age 3, she is already teaching everyone she meets other important lessons.

“They see she has some of these delays, but that doesn’t make Thea,” Halsey said. “Thea’s personality tops it all.”

Her journey may be more difficult than her parents expected, but it is a journey, Thea is filled with joy.

“We wouldn’t change her for the world,” Halsey said. “And we would do it all over again just to have it again.”

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