Katy man tries to help others while battling debilitating disease
HOUSTON - A man from Katy is now the third generation in his family to be diagnosed with Huntington's Disease.
Jon Huffman and his wife Patricia love to dance. It's a fun and healthy therapy, for his degenerative disease.
"Since I started the dance classes, I feel a lot better. It makes me more active, and it makes me use my mind in different ways," states Jon.
He has joined forces with UTHealth Houston in clinical trials, trying to help find a cure for the potentially fatal genetic disorder.
Jon first started noticing symptoms of Huntington's Disease 15 years ago. It progresses slowly, so his official diagnosis took place 7 years later, in 2014.
"We've had it three generations," Jon explains.
"Yes, it's been in Jon's family," further explains Patricia. "The first diagnosed in his family was his grandmother. His mother had symptoms and he had a brother who also was symptomatic."
Jon has been working with Dr. Erin Furr Stimming through clinical trials she's leading. She's a Professor of Neurology at UT Health McGovern Medical School and the Director of Huntington's Disease Society of America at UT Health Houston.
"Huntington's is very much an inherited disease," says Dr. Furr Stimming. "It's inherited in an autosomal dominant fashion, which means that with one affected parent, each child has a 50% chance of inheriting the cause of mutation, of inheriting the disease."
Jon and Patricia are relieved that their two sons tested negative for the mutated gene, so it will not be passed down further in their family. For now, they juggle a triad of symptoms.
"Most individuals with Huntington's Disease will experience motor, psychiatric, and cognitive symptoms. Everyone manifests symptoms in their own way," says Dr. Furr Stimming. "The most common motor symptom is something called chorea. So it's an involuntary movement with the movements flowing from one body part to the next, but chorea is not the only motor symptom or movement disorder individuals can have imbalance, incoordination, which can lead to frequent falling and ultimately immobility. The most common psychiatric symptoms are depression, anxiety, irritability, impulsivity, and apathy. Unfortunately, suicide is far more common in individuals with Huntington's disease."
The cognitive symptoms are also progressive.
"Trouble with attention, focus, planning, and can lead to a slowing of your thought processes and ultimately as the disease progresses, can lead to really an inability to effectively communicate with your loved ones," says Dr. Furr Stimming.
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This inspirational couple each retired from their positions as pharmacists, so they could cherish every moment together, before Jon's disease progresses even further.
"That was part of the reason, it was obvious that the disease is progressing and we said, let's enjoy when we can still get out and do things and go on vacations and be social, so that's our primary focus now," says Patricia.
Dr. Furr Stimming makes sure Jon is as healthy as he can be! Medications help his symptoms, plus physical, occupational, and speech therapy can help. Patients are also encouraged to work with mental health professionals and a social worker since the disease affects the entire family.
There is no cure, but local research has led to several breakthroughs, which help doctors provide better treatments. That's why Jon got involved in clinical trials, certainly hoping it will lead to a treatment to slow the progression of his disease, but also hoping to help generations to come.
"It just means so much to us when they are willing and able to participate in these trials," says Dr. Furr Stimming. "These clinical trials are not easy. Often they require multiple visits, lumbar punctures, spinal retinas, spinal taps, and blood draws, and we are so grateful to our patients and their loved ones."
Dr. Furr Stimming hopes that research will lead to a disease-modifying therapy to enhance the quality of lives of every family dealing with Huntington's.
For more information, click here. The Huntington's Disease Society of America is holding a fundraiser walk in Houston in September, which you can learn more about here.