By Todd Cohen
[Note: This was written for NCPressRelease.com on behalf of HD Reach.]
CHARLOTTE, N.C. — In his 26 years as a correspondent for NBC News covering wars, disasters, atrocities and other human suffering, Charles Sabine often put himself in harm’s way, at times staring his own death in the face.
But the fear he sometimes felt on the job paled in comparison to the fear he experienced in 2004, when he was tested for and found to have Huntington’s disease, or HD, a relatively rare inherited brain disease.
Sometimes described as “the world’s cruellest disease,” HD causes the progressive loss of control of movement, thought and emotion, and typically results in death 15 to 25 years after onset of motor signs of the disease.
“What makes HD crueller than any other disease 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,” says Sabine, whose father died of the disease, and whose brother already is showing its physical symptoms.
Now 53 and the father of two young children, the British native and resident has made it his mission in life to connect physicians, scientists, patients, families, politicians and anyone else who is affected by or cares about HD, and in the process build a global community dedicated to finding better treatment and care of HD patients.
Because anyone who carries the disease form of the HD gene is certain to get the disease, differentiating it from all other diseases, HD is the focus of pioneering work that will have enormous impact for many diseases on issues ranging from research and treatment to care and patients rights.
HD is “a disease of the future,” he says.
“It can be researched as no other disease because you can study people before they get symptoms,” he says. “And it is a vanguard for so many constitutional issues of the future that are being faced now by HD sufferers, such as who should know you have the disease, who should have information and be privy to it, whether government, or life insurers or employers.”
Sabine will be a featured speaker during the 7th Annual Huntington Study Group Clinical Research Symposium and Workshops in Charlotte. The symposium, workshops, and educational and training programs will be held November 7-9 at the Omni Hotel.
Patients, families, caregivers, researchers and medical professionals are invited to attend.
The international gathering is jointly sponsored by Charlotte AHEC and the Huntington Study Group, or HSG, an international network of clinical researchers who study and care for patients and families with HD.
Reports on the latest clinical research on HD, now conducted at over 105 credentialed research sites in the U.S., Canada, Australia, New Zealand, Europe and South America, will be featured.
Workshops include networking for regional doctors and health care providers continuing education for medical professionals, and training programs for service providers, caregivers and local practitioners.
Sessions will examine the issues of local social and medical care that affect the caregivers who treat HD patients and families, including the work of groups such as HD Reach, a North Carolina-based nonprofit that has pioneered efforts to make sure patients and families throughout the state, particularly in rural areas, have access to HD care and resources.
While HD affects only about 30,000 people in the U.S., an estimate first cited 20 years ago, initial findings from new research in Canada and England show the disease is twice as prevalent as previously thought, Sabine says.
For years, he says, HD carried a “stigma and shame, and people have hidden it away,” he says.
His own uncle died of HD in 1992 in a care home for people with the disease, says Sabine, who did not even know of his uncle’s existence until after his death.
And because HD is age-related, he says, the number of people with the disease is surging with the graying of the population.
What’s more, he says, “huge swaths of the population have the disease but just don’t know about it, or have been misdiagnosed, or have had it hidden away.”
Now, however, a worldwide grassroots HD community has emerged in the wake of a “perfect storm” of factors, he says.
Since the HD gene was discovered in 1983, and a test for HD was developed in 1993, that community has grown through greater awareness about the disease, through the emergence of the Internet and social networking that have made it easier for people with HD to connect with one another and find information about the disease, and through the support of prominent people such as the family of folk singer Woody Guthrie, who had HD and died in 1967.
That global community is indispensable for making progress in every aspect of HD, particularly in clinical research, Sabine says.
“The more that families can get involved, the quicker we will have significant treatment of the disease,” he says. “Without them, research cannot move forward.”
And the pipeline of research offers a “crucial glimmer of light to families suffering from the disease,” he says. “It’s looking increasingly promising in the next few years that there could be successful clinical trials at slowing the progression of the disease.”
The possibility of developing a treatment to slow progression of the disease “is extraordinarily empowering,” Sabine says. “Without it, it would be impossible for people to deal with the disease.”
While HD affects far fewer people than HIV/AIDS, the global HD community should model itself on the HIV/AIDS community, which over 30 years developed “immense support, financially and politically, because of the number of people affected,” Sabine says.
“That kind of success only comes from having a collaboration that involves both the people who are working in research on the disease, and the people affected by it,” he says.
“I don’t think governments, the pharmaceutical industry and even universities are necessarily going to do what is right” for people affected by HD and those who live with them, he says. “We have to understand that it is the HD community that can best act for the interests of people suffering from the disease.”
While he is “pre-symptomatic” and not yet showing outward symptoms of the disease, Sabine says, he is “probably just too late to benefit from the real advantages” of progress in treatment and care of HD that he expects to emerge over the next 10 to 15 years.
But he also says progress “can happen only by people like me being involved now in the whole process of discovery.”
The most frightening aspect of the disease, he says, is having witnessed its progression in his father and now his brother.
“I know what my family’s next generation are going to have to deal with, and that’s a terrible thing for anyone to have to deal with,” he says.
So participation by HD patients and families in research is critical to easing their fear of the disease.
“I know that what I am doing now in terms of every aspect of the work I do, from having my body monitored very carefully, to the work I do as an advocate,” he says, “is making this disease less frightening for future generations.”