RARE Daily

When a Condition Thought of as an Adult Disease Strikes a Child

May 9, 2022


For Kinser Cancelmo, it began when she got calls from her daughter Meaghan’s school. Meg had long been hyperactive, and once she began school, she couldn’t sit in her seat. She spent a lot of time in the principal’s office, and the school told Cancelmo that her daughter suffered from attention-deficit hyperactivity disorder.

Cancelmo pushed the school to put her daughter through testing, which was available at the local college near her home in Springfield, Massachusetts. The college told Cancelmo that Meg had a language-based learning disability. Problems persisted and by the time Meg turned 10 in 2010, one counselor suggested Meg be evaluated by an educational psychologist. The outcome was devastating. He diagnosed her with the juvenile version of Huntington’s disease.

 “That hadn’t even occurred to me,” said Cancelmo, even though her husband had been diagnosed with the condition nine years earlier. “It hadn’t crossed my path. It hadn’t even been a consideration, but when he said that it floored me.”

As part of Huntington’s Disease Awareness Month, Cancelmo will be among a group of panelists sharing their stories on how Huntington’s disease have impacted their lives at an event organized by the Huntington’s Disease Society of America on May 11 at the Regent Theater in Arlington, Massachusetts.

Meg’s father had been diagnosed with Huntington’s disease in 2001 at the age of 36. Nevertheless, it wasn’t on Cancelmo’s radar that the condition could be manifesting itself in her young daughter. “Like many others, I wasn’t even quite certain that there was a juvenile version,” she said. “I didn’t know about it. It wasn’t spoken about. I learned a lot about Huntington’s disease on my own because it really wasn’t talked about back then.”

Huntington’s disease is a genetic, neurodegenerative condition that affects physical, mental, and emotional abilities. The typical age of onset is between 30 and 50. Juvenile onset Huntington’s disease is caused by a mutation to same gene as Huntington’s disease but progresses more rapidly. Whereas involuntary movements known as chorea are a hallmark of Huntington’s disease, seizures and rigidity are more typically seen in juvenile onset. While there is a growing pipeline of therapies in development, there are no disease modifying treatments approved for either condition and both are fatal.

Meg died in 2015 at the age of 15. Her father John died three months later at the age of 51. Alyssa, Cancelmo’s oldest daughter, was since diagnosed at the age of 25 with Huntington’s disease. She recently completed a master’s degree in library sciences but is now unable to work and is on disability because of the condition.

Following the death of her daughter and husband, Cancelmo turned her attention to advocacy in the hopes of raising awareness about juvenile onset Huntington’s disease. She launched Meg’s Fight for a Cure Juvenile Huntington’s Disease Foundation to raise awareness about the juvenile form of the disease and fund research into the condition. The organization has been funding the work of Jan Nolta, director of the stem cell program at the UC Davis School of Medicine and Institute for Regenerative Cures, whom Cancelmo said is one of the few scientists involved in researching the juvenile form of Huntington’s disease.

“There is a lot of frustration, particularly because this is a family disease and every adult that has Huntington’s has a 50-50 chance of passing it on to a child,” said Cancelmo. “There are a lot out there that didn’t know prior to having children that this could be a possibility.”

Cancelmo said her daughter Alyssa had seen her father’s and sister’s conditions progress and was aware she was developing problems. When she was diagnosed, she didn’t respond emotionally because Cancelmo said she already knew she had it as well. Alyssa is participating in a clinical trial now and Cancelmo said that she remains forever hopeful because of the number of trials that are ongoing. In the meantime, she tries to keep her daughter as independent as possible and help her cope.

“I remind her that every day is a gift, and we take things one day at a time,” she said. “We don’t look ahead. This is how we handle it.”

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