Feeling the hope

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(I dedicate this article to the dozens of people who joined or supported the “Serbin Family Team” on April 14 in the 2013 Team Hope Walk-San Diego of the Huntington’s Disease Society of America, HDSA.)
Lately, I’ve been feeling great hope – even as my genetic clock ticks ominously – that researchers will find an effective treatment for Huntington’s disease and save me from following in the footsteps of my mother, who struggled against this so-called “devil of all diseases” for nearly 20 years before succumbing at age 68 in 2006.
Because the underlying causes of HD are untreatable, I’ve rarely permitted myself to have all-out hope during my 15 years of advocacy and personal fight to avoid the inevitable symptoms. I’ve braced myself for the impact of onset, even as I keep advocating for the cause on full throttle until our community, together with the scientists working overtime for effective treatments, achieves victory.
Hope is a precious commodity to be savored when breakthroughs occur. I’ve saved a couple bottles ofHangtime Pinot Noir, the wine served at the Parker Palm Springs hotel in 2011 at a reception after my first major speech on HD, delivered at the Sixth Annual HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc., in February 2011. I’m keeping at least one to celebrate on the day a treatment is announced.
Big news, a sense of relief – tempered by reality
In recent weeks, the science news and advocacy milestones have left me feeling particularly buoyant.
On April 2, I was thrilled with President Barack Obama’s announcement of the BRAIN (Brain Research through Advancing Innovative Neurotechnologies) initiative, which will spend hundreds of millions of dollars over the next decade to map the mysterious circuitry of the brain. Although HD researchers hope to find treatments before the potential benefits of BRAIN become available in a decade or more, the announcement of the project finally brings brain health and research to a long-overdue prominence in American politics.
The very next day, HDSA held a symposium at the U.S. Senate to mark the 20th anniversary of the discovery of the HD gene. Dr. Francis Collins, the director of the National Institutes of Health and one of the scientists who helped find the gene, keynoted the meeting, which included presentations by key HD researchers about the prospects for treatments. As I watched the live streaming video of the event, I could feel the sweep of history as I reflected on the scientists’ words and my family’s odyssey with HD, beginning with my mother’s genetic test in 1995 and my own test in 1999.
Just a few days later, on April 8, the Swiss pharmaceutical giant Roche and Carlsbad, CA-based Isis Pharmaceuticals, Inc., announced a multi-million-dollar partnership to bring Isis’s potentially revolutionary HD gene-therapy drug into clinical trials, with a projected start date of the first half of 2014. I have followed the Isis project closely since 2008, visiting the company’s labs, interviewing its scientists, writing detailed articles about the research, and, in speeches to the HD community, citing the project as a great sign of hope.
As I prepared an article on this latest phase of the project, I felt a profound sense of comfort and elation as I pondered how the deal with Roche should accelerate the research, increase the potential for effective results for symptomatic HD people, and, for the very first time, allow scientists to envision ways of preventing presymptomatic people like me from ever developing the disease!
I let out a long sigh of relief – as I do again now in writing these words – and imagined a future without HD for me and the tens of thousands of families around the world devastated by the disorder.
However, since then I’ve tempered my enthusiasm with reality. Although scientists express genuine optimism about developing treatments, only one in ten clinical trials leads to a drug.
As I race against my genetic clock and past my mother’s age of onset, a treatment may not arrive in time to prevent my symptoms.
Nevertheless, the great feeling of hope lingers and brightens my days!



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AICH ROMA ONLUS