BOCA RATON, Fla. – An estimated 41,000 Americans are affected by a neuro-degenerative disorder called Huntington‘s disease, and more than 200,000 are at risk of inheriting the disease according to the Huntington’s Disease Society of America.
In this health report we take a closer look at its causes and how experts are helping patients cope.
Laura Campbell is the third generation on the maternal side of her family to be diagnosed with Huntington’s Disease but facing the reality that she had a 50% chance of developing the condition was still a struggle for Laura and her husband Chris.
“So how it worked is you would see a symptom and you would try to forget the symptom. You would see a symptom and say ‘nah, that’s probably just something else’. So you make up excuses until the very end, until you can’t anymore and that’s how families deal with Huntington’s disease,” she said.
Dr. Henry Moore is Director for the Huntington Disease Society of America Center of Excellence at UHealth in Boca Raton, Fla.
He said we all carry the Huntington gene but the disease is the result of a mutation that causes abnormal proteins to accumulate in the brain and damage cells.
“The symptomatology is interesting because even though you are born with that mutation, the symptomatology usually occurs between your 40′s and your 50′s and once it starts, continually progresses through your life,” Moore said.
Symptoms include involuntary movements, poor balance, psychiatric issues like depression and anxiety, and changes in cognition that affect concentration and attention.
“The disease manifests differently. Some patients may have more involuntary movements as part of the disease, some other may have more psychiatric presentations, some may even have cognitive dysfunction early on in the disease,” Moore said.
While there is no cure for this progressive disease, Moore said there are therapies that can help with some of the symptoms.
“There’s nothing approved that may slow down Huntington’s at this point but there is interesting research with medications,” he said.
Chis said medication has greatly helped Laura and allowed them to life to the fullest in the time they have together.
“We always had in our back pocket that this was going to occur, so what we tried to do before she became symptomatic is I sat down with Laura and we made a bucket list and we hit everything on that list,” he said.
“We have four families that are all really close and now know my condition and help me with everything. I feel like I take one day at a time,” Campbell added.
Research into Huntington’s is focused on ways to prevent the gene from making the abnormal proteins that damage the brain.
If successful, this could ultimately slow progression of the disease or prevent it altogether.