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A debilitating and progressive disease, Huntington’s runs in families. North Carolina is on the forefront of creating networks of support.
By Taylor Sisk
When former NBC News correspondent Charles Sabine looked out over a nearly full auditorium at the Omni Hotel in Charlotte last Saturday, a lot of familiar faces looked back, most of which he’d never laid eyes on.
They were the faces of people living with Huntington’s disease, their family members and friends, those who provide them with comfort and support and those who are working to eradicate a disease that ransacks the brain and ravages the body.
Sabine was among family, some 425 of whom had come from eight countries and 24 states to gather for the two-day 7th Annual International Huntington Study Group Symposium & Workshops.
A child of a person with Huntington’s disease has a 50 percent chance of developing the disease, a statistic Sabine knows well. Sabine lost his father and uncle to Huntington’s. His older brother is in the advanced stages and he himself has tested positive and is now in its early stages.
Huntington’s disease is an inherited disorder that causes nerve cells in the brain to waste away, affecting control of movement, cognitive abilities, mood and behavior. It can strike at any age, but onset comes most typically in the mid-30s to mid-40s.
More than 30,000 Americans have been diagnosed with Huntington’s disease and more than 250,000 others are at risk of having inherited it. A blood test will reveal if the gene is present.
Common physical symptoms are jerky, uncontrolled movements and trouble with balance. Cognitively, Huntington’s leads to poor impulse control and trouble with memory and organizational skills. It commonly causes depression, irritability and apathy.
In advanced stages, it robs those afflicted of the ability to walk, talk and swallow.
Cruel and disabling
“What makes HD crueler than any other disease,” Sabine has said, “is that not just does it affect every aspect of a personality, rendering the victim unrecognizable to their family, but its unique genetic nature means that those family members are watching this often in the knowledge that they are going to suffer the same fate.”
Death generally comes 15 to 25 years after onset. There is no cure.
The large turnout for last weekend’s conference, Sabine said, was further proof of the traction being gained in combating Huntington’s; he saw in those faces before him “the wisdom and the courage” that would be required.
He might well have seen it, for example, in the face of 25-year-old Suzanne Snyder (who asked that her real name not be used). Snyder’s father has Huntington’s; she hasn’t yet made the decision to be tested.
Huntington’s was a “hush-hush thing” in Snyder’s household as she was growing up. She now tries to gather what information she can, and shares it with her family. But prior to the conference, she’d never met anyone else who’s dealt with the disease.
“Oh, my gosh,” she said. “I had a whole table of people that I instantly attached to,” now friends.
She left feeling part of a community.
N.C. out front
Sabine has dedicated himself to educating the public about Huntington’s disease; it’s a fulltime job.
And he said that while he’d considered returning to his home in the UK for the weekend for some overdue relaxation, he’d chosen instead to come to North Carolina, “the state that can lead the rest” in gaining the edge on Huntington’s disease.
The theme of Sabine’s talk was the importance of taking a holistic approach to delaying the onset of the disease, treating its symptoms and, ultimately, discovering its cure – and he pointed out that North Carolina is home to one of the most effective networks in the world in providing just such an approach.
There are Huntington’s clinics at Duke and Wake Forest, and UNC hosts a genetic testing program. The Raleigh-based HD Reach is a nonprofit organization that helps coordinate medical care and resources necessary to manage Huntington’s disease – a unique and multifaceted resource. Huntington’s support groups meet in Charlotte and Durham and one is in the development stage in Wilmington.
As Mary Edmondson, president and founder of NC Reach and a clinical associate in psychiatry at Duke, told those who sat in for a session called “Developing Multidisciplinary Care in the Community,” the “magic ingredient” is education, and it’s amply available, through all the above resources, here in North Carolina.
There was news too of developments in Huntington’s research, through both drug testing and observational studies.
Sabine told of a drug from Pfizer that’s just now entering clinic trials: the PDE10 inhibitor. He noted that the PDE5 was Viagra, and added, jokingly, he’d told the drug company that he was sufficiently hopeful of the success of the PDE10 that he’d begun taking two PDE5s.
But everything in the pipeline today is designed to address the symptoms of Huntington’s, and Sabine suggested the value of a broad interpretation of the word “cure.” Drugs, he said, aren’t the only means to hope.
“What is it we’re trying to do? What is the goal?” Sabine asked his audience. “We don’t want everlasting life”; rather, quality of life, dignity, the opportunity “to cheer our home team on every year like our neighbors do … to not be afraid, and have our children not be afraid…. That’s what we mean by a cure.”
“It’s up to us,” Sabine said.
For Suzanne Snyder, to gather with this community was a godsend. She’s only recently moved to Charlotte, from the West Coast, and was unaware of the network of HD services available to her here in North Carolina.
Asked if she was frightened by the prospect of Huntington’s, she said, “It’s always in the back of my mind. I honestly think my day-to-day decisions, whether they’re big or little, have to do with the fact that maybe someday this will happen.
“I think I’m more spontaneous and try to have more fun, and try to enjoy my life more than I [otherwise] would.”
“I’m proud of who I am today,” Snyder said, “and a big part of that is having experienced a family member with HD.”
And today, this day, among those who are along a similar journey, she said, “I’m just a lot more hopeful.”