Watervliet child one of 16 globally affected by rare diagnosis

WATERVLIET, N.Y. (NEWS10) — A toddler in Watervliet is facing an ultra rare diagnosis. One-year-old Halo is similar to many other kids. She loves music, dancing, playing with her brother, and laughing with her mom. Yet, she is facing a diagnosis that only 16 kids in the world are known to have. It’s a rare syndrome called CTBP1. 

“She is a light,” Halo’s mom, Theresa, commented. “Despite her challenges, she smiles every day, and she brings joy to people around her.”

Theresa has been fighting tirelessly to find answers and help for Halo. This past Friday, they finally received the diagnosis. 

“It felt like a relief because I’m the biggest advocate for my daughter,” Theresa noted.

Theresa said she immediately knew something was wrong when Halo didn’t pick up her head as an infant. From there, she was determined to find out what was affecting her daughter. 

“She was diagnosed with Hypotonia on December 2nd of 2024, and ever since, we’ve been trying to come up with the diagnosis for her,” Theresa explained. “She’s had plenty of testing. She’s had MRI and blood testing. She recently had what’s called whole exome sequencing.”

Dr. Carlos Mares Beltran at the Albany Medical Genetics Department says often children with the syndrome could be misdiagnosed. 

“This specific syndrome presents with what we call nonspecific signs and symptoms, such as developmental delays, meaning delayed language, delayed motor skills” Beltran noted. “Also intellectual disability, low muscle tone, poor weight gain, and we see these clinical features in many, many genetic syndromes.”

Beltran said without a cure, treatment is support based. Therefore, it’s important that they continue research to best help patients.

“This is an example of many, many other genes and genetic conditions that have very, very few cases,” Beltran commented. “A lot of people, government or funding groups, don’t look at them, because of course, they want to pay more attention to groups or disorders that have more people affected.”

In the face of the diagnosis, Theresa is fighting not only for her daughter, but for others in similar situations.

“My goal really is to raise awareness to the community about kids that are dealing with similar challenges and find people that are going through something similar, connecting with other families,” she said.

Theresa recently started a GoFundMe to support Halo in her treatment and to help fund research for CTBP1. 

“Support on the GoFundMe will directly go to accessible housing, transportation, and you know, I have to take time off of work to go to her appointments, so it’ll help a lot with that,” Theresa explained.

Theresa says it’s Halo’s light that keeps her going. 

“She is exactly her name, and she’s been great throughout this entire thing,” Theresa said. “She’s beyond strong, and I’m very proud of her.”

Moving forward, Halo and Theresa are asking for answers regarding the diagnosis. They’re asking for help and financial support from the community as they navigate this journey.