Louise Vetter, the President and CEO of the Huntington’s Disease Society of America (HDSA), has been in her position for nearly 9 years. After a childhood spent living with a severe case of asthma, she learned very early just how important a quality relationship between physician and patient can be. In her current role, she’s driven by the forward-facing role she has with HD patients, and how she can instill both scientific information and hope into their minds.
George Yohrling, PhD has served as the Senior Director, Mission and Scientific Affairs for the HDSA since late 2012. It was always his intention, after finishing his PhD in pharmacology, to do a post-doctoral fellowship in neuroscience, but while his initial interests were in the fields of Parkinson’s and Alzheimer’s, he claimed that he was “hooked” after learning about HD.
In this video, the two discuss the pathophysiology and science of HD, but also why it can be so difficult to recognize, diagnose and treat.
Yohrling: So, Huntington’s disease is a monogenetic disease, meaning it’s caused by a mutation in one gene, and this gene has since been called the Huntingtin gene. It was discovered in 1993, and that really spearheaded the research, and accelerated the research that’s being done today where we’re now focused on trying to silence or lower that mutant gene. So, what happens is, everyone has the Huntingtin gene in every cell in their body – You and I have it. We’re fortunate that we don’t have an expanded copy, but in people with Huntington’s disease, a little section of that Huntingtin gene gets a little too big, and when it gets too big, bad things happen. What current research is trying to focus on is trying to use technologies like antisense oligonucleotides or RNAi, or RNA interference, to lower levels of the gene so that we can hopefully delay the onset of the disease.
Vetter: So, it’s interesting, because from a scientific perspective, HD is easy. We know exactly what causes it; it’s one mutation. But communicating that to the general public, helping people understand the disease and how insidious it is, really from birth, and how it goes through families, is a challenging story to tell. We talk about HD in its full presentation, so somebody who’s really symptomatic being like someone who has Alzheimer’s and Parkinson’s and Lou Gehrig’s disease combined, because it affects every aspect of a person; their abilities to communicate, to walk, to talk, to think, to engage socially. It is an all-encompassing and all-stealing condition.
In its early phases, it may just be depression, it may be a little bit of clumsiness, or someone who is anxious. We have to talk about the full timeline of the disease, so for most people, they don’t experience any symptoms until they’re in their 30’s, really, and that’s when stumbling a little bit more, being a little bit more anxious, having a hard time multitasking – things like that begin to eek in. For somebody who is aware of their risk, it might lead them to a doctor for early-symptom management that can keep them productive in terms of working and driving and living independently for as long as possible. But for someone who is not aware of the risk, they didn’t know it was in their family, it’s even more crippling, because by the time they’re symptomatic enough for them to get a definitive HD diagnosis, they’ve probably lost a lot of the independence that would allow them to really understand how to tackle the disease head on. It is a complex disease, and discrimination for those living at risk, but also from the general community, is a real challenge.
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For more information about Huntington’s disease and the work of the Huntington’s Disease Society of America, please visit HDSA.org.