Infant triangle among fewer than 100 people diagnosed with an ultra-rare genetic condition

RALEIGH, NC (WNCN) — A little girl in the Triangle lives with a genetic condition so rare that doctors around the world are still trying to learn more about it.

Thea Halsey has been through a lot in her three years, and her parents aren’t sure what their daughter’s life will ultimately 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,” said her mother, Hayley Halsey, with a smile on her own face.

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

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

Overjoyed at the birth of their first child, she and her husband, Andrew, quickly realized that their trip would be a little different than what they had planned.

Although Halsey says that some of Thea’s tests before birth showed an increased likelihood 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 son home,” Halsey said.

Thea faced one medical problem after another, involving her heart, her hips, her hearing and her digestive system, but her sweet spirit helped her parents take it all in stride.

“She’s always been happy and she’s always been a joy,” Halsey said.

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

“We went back and forth, Andrew and I, about whether or not we wanted to do it, but we thought the more knowledge we had the better to help her in the future,” Halsey explained. “I think it was around April or August of 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 rare that Dr. Cynthia Powell, a UNC Health pediatric geneticist and rare disease expert, says only 50 to 100 cases have been documented worldwide.

“There’s rare, ultra rare and nano rare, and I think this one would almost fall into that nano rare where there are very few people recognized with it,” Powell said. However, he noted that some cases may not have been diagnosed.

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

“We think it has a role in what’s called ‘neuronal migration,’ cells in the brain arrive at the correct position as the embryo develops into a baby, so those cells don’t always seem to arrive at the correct places. “. She explained. She said the gene may also play a role in how DNA is converted to RNA.

Until recently, Powell says, it was believed that BFLS only affected children.

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

While he noted that the genetic mutation that causes this disorder can be inherited, it can also occur spontaneously, as seems to be the case with Thea.

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

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

“I don’t think anyone has ruled out that he will talk or walk or something like that,” Halsey said. “We’re all on their timeline and we’re pushing for those things, but if they don’t get there, that’s the way we’ll go.”

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

“She has some issues that we haven’t encountered before in other patients,” Powell noted, adding that clinicians still have a lot to learn about the condition and that each patient diagnosed can provide valuable insight.

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

As Thea gets older, her experience may one day teach doctors more about BFL syndrome, but at 3 years old, she’s already teaching everyone she meets other important lessons.

“They see that she has some of those delays, but that doesn’t make her Thea,” Halsey said. “Thea’s personality dwarfs all of that.”

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

“We wouldn’t trade her for the world,” Halsey said. “And we would go through it all again just to have her again.”