Friday, May 24, 2013
May is Huntington’s Disease Awareness Month. During this time, we in the HD community make a special effort to educate the public and our leaders about the untreatable, fatal genetic disorder that affects thousands of American families.
It’s also a time to reflect on the very meaning of awareness and how we build it.
In our media-saturated world, people often equate awareness with media exposure.
However, from my standpoint as an activist who has worked at all levels of the movement – from local volunteering to statewide stem-cell advocacy to global networking for the upcoming World Congress on Huntington’s Disease – I view the quest for media exposure as a necessary but hardly sufficient condition for awareness-building.
Disease and the public eye
Some recent news items highlight the importance of media exposure, its connection to awareness, and the potential drawbacks of over-emphasizing exposure.
The revelation by actress Angelina Jolie that she had undergone a preventive double mastectomy after testing positive for a breast cancer gene led a sufferer of a lesser-known disease, dystonia, to publish a commentary on the difficulties of building support for research for her condition.
“If I told you what my issue was, you would probably shrug and reply that you’d never heard of it,” wrote Allison Hersh London, the chairwoman of the Young Leadership Council at the Bachmann-Strauss Dystonia and Parkinson Foundation, in an article titled “Disease and the Public Eye” in the May 18 edition of the New York Times. “There aren’t any public service announcements about it or telethons. No Angelina Jolies to bravely inform the world. Just people like me, in supermarket checkout lines.
A movement disorder, dystonia causes involuntary muscle contractions resulting in twisting and repetitive movements.
“And this, I realize, is at the core of a problem that extends beyond me and my condition and that affects the way all of us respond to illnesses, some of which are the subject of public attention — and resources — and some of which are not.”
Sound familiar? It’s what the HD community said for decades. The only famous American to die of HD, Woody Guthrie, left us almost 50 years ago.
But now read what London says about HD:
“It’s odd to find yourself envying people who have diseases that get more attention than yours,” she wrote. “But I can’t help it. Dystonia is quite rare but, by some estimates, there are more people who have it than have Huntington’s disease, A.L.S. and muscular dystrophy combined. So the simple prevalence of an illness doesn’t explain why some illnesses are better known and better studied than others.”
Although recognizing that dystonia isn’t neurodegenerative or fatal, London uses the very same tactic of comparing disease numbers that some of us in the HD community – including myself – have used to justify more attention and research dollars for our disease.
What’s odd for me as an HD advocate is to see Huntington’s referred to in this manner. Despite HD’s occasional presence in the news and entertainment media over the past five decades, most people in the supermarket line still would say: “never heard of it.”
HD people do know about dystonia, however. In fact, before my mother was tested for HD in 1995, one doctor first thought she had that disorder. In addition, many HD patients do have dystonia as a symptom.
Citing a research study called the “Katie Couric Effect,” London affirms that a celebrity connection to a disease “can have a substantial impact on what the public does.”
London repeats what we’ve all heard: “Awareness generates funding, and funding generates research, which can lead to enormous life-changing differences for people who struggle with illnesses you probably haven’t heard of.”
Nevertheless, she concludes, “what’s most important is telling people about the disease” on an individual level.
‘I Wish My Son Had Cancer’
In England, Alex Smith, a father fighting to save his son Harrison from the fatal condition known as Duchenne muscular dystrophy, took out an ad in London’s Evening Standard.
The ad photo (above) could just as easily represent a parent from an HD family, like the one I took at last year’s HDSA national convention of little Kayden Bujnowski, at risk for developing juvenile HD, her HD-afflicted mother Heather Lewis, and her father Jason Bujnowski (see below).
However, in the case of Harrison, the parents and the ad agency headlined their ad with the words “I Wish My Son Had Cancer.”
“Harrison, my 6 year old, has Duchenne Muscular Dystrophy,” the ad states. “He’s one of 2,500 sufferers in the UK who’ll die from it, most before they’re twenty. Unlike cancer, there’s no cure and no treatment. And because you’ve never heard of it, very little funding either.”
"So far, the finished ad has received considerable support among other parents of children with Duchenne," journalist Meg Carter wrote about the ad, noting that people from far away as Brazil have donated a total running into the thousands of British pounds towards research for treatments. "However, some online comment on the charity's Facebook page has questioned the merit of, in effect, setting up different childhood illnesses in competition for donors' support."
As I wrote about Jolie’s preventive operation, people in the HD community would jump at the opportunity to reduce their level of risk for a disease that is 100% genetic and eventually strikes every carrier of the gene.
Indeed, we are desperate for treatments.
However, I cannot recall any instance in which a family or HD organization went to such extremes to generate publicity and funds.
Many forms of awareness-building
In seeking media exposure, we in the HD and other disease movements attribute to it an almost magical power to solve all of our problems and instantly bring the cure.
In the process, we can lose sight of the many other, equally important forms of awareness-building.
Practically everything we do in the fight against HD involves awareness-building: the doctor-patient relationship, informing people in our workplaces and community, and advocating in the public arena for such issues as stem cell research and passage of the Huntington’s Disease Parity Act.
Awareness-building requires relationship-building.
All of this is hard work. And it lacks the glamour of the fifteen minutes of TV fame or a 700-word newspaper op-ed piece.
The most important form of awareness-building takes place in our families and at the level of the individual affected by HD.
Because of the fearful symptoms and deep stigma associated with HD, so many of us hide in the terrible and lonely “Huntington’s closet.” The first step in awareness is to exit that closet and strive to build a family conversation about HD.
In our rapidly advancing biotechnological era, in which scientists have solved many of the mysteries of HD and opened the way to potential treatments, awareness-building also means confronting challenges such as genetic testing and grasping why it’s significant that we join research studies and clinical trials for defeating the disease.
It all begins with each of us. In building self-awareness with respect to HD, we can take the next big step of talking to a relative, joining a support group, visiting an HD clinic, and, when the moment is right, sharing our stories in the way that so many HD families do in the daily e-mail features of the Huntington’s Disease Society of America (HSDA) in May.
Deep pockets and working behind the scenes
It’s understandable that people with dystonia, Duchenne’s, or Huntington’s want to persuade or even shock the public into supporting their cause.
However, most of the process of fighting a disease takes place in physicians’ clinics and scientists’ labs. In America, a vast biomedical and pharmaceutical system discovers, produces, markets, and administers treatments. The politics and finances behind this system operate far from the public eye and, usually, media scrutiny.
In the fight against Huntington’s disease, the dogged determination and leadership of individuals such as Marjorie Guthrie, Woody’s widow and the founder of HDSA, and the Wexler family of the Hereditary Disease Foundation proved crucial in building both the public and self-awareness of the HD community and paving the way to key discoveries that have brought the hope of treatments.
Since 2003, however, the leadership in HD therapeutic research has come largely from the CHDI Foundation, Inc. Backed by a group of anonymous donors, CHDI spends tens of millions of dollars annually to fund drug-discovery projects. It also holds highly technical conferences to discuss the worldwide efforts to find treatments.
CHDI works without celebrities. While it has made waves in the world of science, it quietly goes about its work towards one goal – stopping Huntington’s disease – albeit HDSA shoulders the responsibility of advocacy, awareness, and services to HD families.
In the context of our biomedical system, CHDI illustrates a key point: having deep pockets and working behind the scenes can play as large a role – if not greater – in combatting a disease as public awareness.
HD scientists do find inspiration in the stories of HD patients.
However, they are also motivated by the deep curiosity characteristic of science researchers. HD provides a daunting challenge, one that has attracted some of the best scientific minds of our era. Additionally, it serves as a model for studying other genetic and neurological conditions, and the tools and techniques used in HD research can be applied to other scientific questions.
The momentum of science means that diseases even rarer than HD are benefitting from increased research and funding, as pointed out by Carl Zimmer in an article on fibrodysplasia ossificans progressiva, a genetic disorder that disables people by causing them to grow extra bones, in the June 2013 issue of The Atlantic. HD affects an estimated 1 in 10,000, the bone disorder 1 in 2 million!
“The medical establishment itself has shifted its approach to rare diseases, figuring out ways to fund research despite the inherently limited audience,” Zimmer observed. “Although rare diseases are still among the worst diagnoses to receive, it would not be a stretch to say there’s never been a better time to have one.”
In discovering a drug for a disease like HD, many important parts of the story will emerge only years later. Some aspects may never reach the public arena.
What counts most is stopping the disease.
Thursday, May 16, 2013
My family’s experiences with genetic testing for Huntington’ disease rarely stray from my daily thoughts.
The day after Christmas in 1995, I learned that my mother had tested positive for HD, a condition I had never heard of. The devastating news that she was afflicted with an untreatable, fatal disorder set me on a quest to learn all I could about it and help find a cure.
In June 1999, I tested for HD primarily because my wife and I wanted to start a family. Sadly, I was gene-positive. That information changed my life forever, altering my career path and thrusting me into a race against my own genetic clock – and for the cure.
In January 2000, our daughter tested negative in the womb – one of the happiest moments of our lives. Now, as she enters the teen years and becomes independent, I realize how our decision to test her 13 years ago has liberated her and us from ever having to worry about HD affecting her or her own potential children.
Lately, I’ve been reliving the powerful emotions of those three experiences and reflecting on how genetic testing has both provided important life-planning tools for HD families and forced them to make the kinds of difficult decisions I have made.
When I read in an HD Facebook group about someone who has tested negative, I at first become extremely jealous and even a bit angry. Then I feel relief for that individual and his or her family and send on a note of congratulations.
When I see news of a positive test, I feel the need to offer comfort and encouragement – and to redouble my advocacy efforts.
Don’t rush, sit with your emotions
An instructive lesson on the promise and perils of genetic testing came in the presentation by genetic counselor Lauren Dennis on “HD and Genetic Counseling” at the February 25 San Diego-area support group meeting.
“Basically we’re giving you a yes or no to a situation where there’s no cure,” Lauren said as the started her overview of the counseling and protocols involved in the testing process. “We’re really looking into that crystal ball to give you that information. Once you have that information, there’s no going back. We want to make sure that you’re in a good place to get that information and be able to cope with it.”
This approach stems in large part from the risk of suicide associated with HD testing, Lauren explained.
Among many key points, she emphasized that individuals should not rush into testing.
“We don’t want this to be an impulsive decision,” she said. “Sometimes people pick up that phone and call us: ‘Gosh, I just learned that Huntington’s disease was in my family last week.’”
Such people sometimes want to test immediately, she said.
That scenario starkly reminded me of my own wish to undergo testing right after learning of my mother’s test and diagnosis for HD.
However, as I learned then, and as Lauren explained during her presentation, counselors often ask people like me to first learn more about the disease and the need to plan regarding potential issues like insurance coverage, career, and family planning
“You really need to sit with the emotions and the idea of what that result would mean for you and how it will impact your life,” she continued, referring to the required one-month wait between submitting the DNA sample from a cheek swab and obtaining the results. “You need time to do that.”
As I listened to Lauren’s presentation and the subsequent Q&A session, I recalled the many other facets of my family’s experiences with testing.
Lauren explained that each individual or family seeking counseling is unique, so advice is offered on a “case-by-case basis.”
Ultimately, genetic testing is only the start of a family’s journey with HD, she concluded.
“That’s a huge limitation of genetic testing,” she said. “We can give you the yes or the no. We can’t tell you the when. We can’t tell you what age. We can kind of gauge from the family history – it might be similar…. We can’t tell you where, exactly what symptoms you’re going to have, or how severe they will be or how long your progression will be. That is a limitation. We don’t have that magic crystal ball.”
Lauren’s presentation is an excellent introduction to testing for any HD family interested in learning more about the process. You can watch it in its entirety in the video below.
In definitively exiting the terrible and lonely “HD closet” over the past six months, the history of my family’s three HD tests has taken on new meaning.
As an HD advocate and historian, I’ve always had concern about the impact of genetic testing on society in general.
Now, after my employer, the University of San Diego, published an official website article on March 1 about my journey with HD, I’ve begun to implement my long-desired plan to more formally explore the history of science, technology, and medicine and link with university programs relevant to that area and HD research.
Recently I met with faculty members in charge of the university’s brand new neuroscience major. This is a hot field. Projected to take in 20 students its inaugural year, the program has already attracted some 100 students interested in the major.
In a couple years, after some careful planning and lots of research, I hope to teach a course on the history of the brain, which would be highly useful for neuroscience students. Also, as chair of my department, I am helping to lead the search for a new faculty member in the history of science, technology, and medicine who could potentially build additional bridges to neuroscience and many other campus programs situated in one of the world’s leading biotech hubs.
Last month, the university posted an article about a new student-designed website, Genetics Generation, that aims to provide impartial information about genetics and engage the general public in conversations about genetics and ethics.
One of the site’s ethics case studies, titled “Huntington’s Disease and Personal Autonomy,” is like a page ripped out of my family’s story: a young, gene-positive man and his wife want to test their unborn child for the HD mutation.
However, unlike our story, this hypothetical couple encounters hesitation from their doctor, who counsels against obtaining information for a condition that may not affect the child until adulthood.
The case study ends with a reader’s poll: “if you were the doctor, what would you decide?”
Click here to read the entire case study and to register your vote.
I contacted the biology professor, Dr. Laura Rivard. The students produced the website as part of her course, Ethical Issues in Genetics. Our e-mail conversation led to an invitation for me to participate in a planning meeting for a new, multidisciplinary academic concentration in medical ethics.
As the healthcare and biotech industries continue to grow, the concentration would provide students with urgently needed perspective and reflection on matters such as the transformation of the healthcare system and issues in genetics.
I will join future planning sessions and offer my expertise on HD wherever it might be useful to students and fellow faculty.
Building these larger connections via my work as a professor will help me extend my HD advocacy to new spheres and highlight HD’s pioneering role in genetic testing and genetics research.
Walking in another’s genetic shoes
This past week the often terrible impact of genetic testing hit home once again as I heard the news that world-famous actress Angelina Jolie had revealed in The New York Times that she had undergone a preventive double mastectomy because she had tested positive for BRCA1, which sharply increases the risk of breast cancer and ovarian cancer.
I imagined how difficult it must have been to have received the news of her test, but I also felt relieved to know that medicine has found a way to reduce the risks for Jolie and myriads of others threatened with the possibility of breast cancer.
“My chances of developing breast cancer have dropped from 87 percent to under 5 percent,” Jolie, whose mother died of the cancer at the age of 56, wrote. “I can tell my children that they don’t need to fear that they will lose me to breast cancer.”
For some, the option of the double mastectomy might seem extreme, and, as commentators on Jolie’s situation noted, other approaches to combatting breast cancer do exist.
However, people should not judge Jolie. She made the best decision for her. Nobody can fully comprehend her decision until walking in her genetic shoes.
Likewise, nobody should judge HD families faced with the extremely difficult issues surrounding genetic testing and procreation.
Hoping for prevention
The minute I heard the report on Jolie, I thought of my own test – and the fact that for the HD community no preventive procedure or treatment exists.
Sometimes, HD-affected individuals, gene-positive people like me, and caregivers feel like jumping at a radical solution. We do so because of hopelessness.
My chances of HD onset are 100%. To reduce that by even half would be fantastic. To reduce it to 5 percent would be a miracle.
With the rest of the HD community, I’m rooting for the current and upcoming clinical trials aimed at testing approaches such as gene therapy, which could potentially halt, reverse, and maybe even prevent symptoms.
(May is HD Awareness Month! Learn more about the cause and donate by visiting the site of the Huntington's Disease Society of America.)
(May is HD Awareness Month! Learn more about the cause and donate by visiting the site of the Huntington's Disease Society of America.)
Thursday, April 25, 2013
With the new partnership between Roche and Isis Pharmaceuticals, Inc., reported here on April 11, the search for Huntington’s disease treatments has gained an accomplished and ambitious ally in the person of Luca Santarelli, M.D., Ph.D.
Dr. Santarelli, the 44-year-old head of neuroscience and small molecule research at Roche’s world headquarters in Basel, Switzerland, will oversee the Roche-Isis effort to bring Isis’s proposed gene-therapy drug to a long-awaited crucial clinical trial, tentatively scheduled to start in the first half of 2014.
A native of Italy, Dr. Santarelli in the early 2000s made an astounding discovery about Prozac-type antidepressants while conducting postdoctoral research at Columbia University in New York City: these drugs actually led to neurogenesis, the birth of new neurons in the brains of adults.
With these findings, Dr. Santarelli joined Nobel laureate Dr. Eric Kandel, Dr. Rene Hen of Columbia, and Dr. Fred Gage of the Salk Institute for Biological Studies in San Diego to found a company, Brain Cells, Inc., that focused on the development of novel antidepressants for stimulating neurogenesis.
In 2005, Dr. Santarelli joined Roche. He quickly rose in the company ranks and now oversees efforts to design drugs for brain disorders and related conditions, including schizophrenia, depression, Alzheimer’s disease, multiple sclerosis, spinal muscular atrophy, and neurodevelopmental disorders such as autism and Down syndrome.
Nature’s Trojan horses
Now, turning their attention to HD, Santarelli and Roche researchers will collaborate with Isis to speed progress towards the clinical trial, infusing $30 million into the project.
They also will seek ways to make the potential Isis drug easier for trial participants and eventual patients to absorb. Instead of Isis’s potentially riskier and certainly less comfortable method of implanting a quarter-sized port near the rib cage connected to a catheter running to the area of the spinal cord, Roche aims to create a drug that patients could take through an intravenous or subcutaneous (under the skin) injection. (It’s still too early to tell where in the body patients would receive such a potential subcutaneous injection.)
To design this kind of drug, Roche will use a so-called “brain shuttle,” a new approach to transporting drugs past the highly impermeable blood-brain barrier, which protects the brain from foreign objects.
The blood-brain barrier also makes it difficult for so-called large molecule drugs to enter the organ and thus has presented researchers with a major hurdle to treating brain disorders and diseases.
Dr. Santarelli, in a phone interview on April 22, was asked to explain the brain shuttle in everyday terms.
“It works by hijacking a biological system that is normally used to shuttle proteins into the brain,” he told me. “It uses cellular receptors outside the blood brain barrier and uses them as Trojan horses to take in a cargo.”
The cargo could include an antisense oligonucleotide, or ASO, the specially designed piece of artificial DNA made by Isis that, in mice experiments, has reduced the amount of the harmful huntingtin protein in brain cells and produced a “Huntington’s holiday,” a disappearance of the symptoms.
“A cargo can be an ASO,” Dr. Santarelli continued. “It could also be a peptide or an antibody. Receptors are on the outside (of the blood-brain barrier), but they also move to the inside. They are built by nature to allow certain large molecules (to move in).”
Explaining the concept
No brain shuttle drug yet exists. I was eager to know exactly what kind of shuttle Roche might have in mind and how it could work with the ASOs.
However, because of the trade secrets involved in private drug research, Dr. Santarelli declined to comment.
Nevertheless, he emphasized that the brain shuttles are “built by nature to allow the transfer of large proteins inside the brain.” Different shuttles have different capacities, he added, and they work in a “controlled fashion.”
“The concept of proteins that shuttle large molecules has been known for a while,” he said, referring to the decade-plus research on the phenomenon.
Dr. Santarelli cited the example of the shuttle known as transferrin.
“We know that transferrin works in this way,” he said. “Transferrin is a protein that carries around iron in the bloodstream. Iron doesn’t go around freely. It’s absorbed and transferred around to the organs. It (transferrin) binds with iron – iron gets released into the brain.”
Advantages of the brain shuttle
By carrying an ASO into the brain in this revolutionary manner and avoiding the discomfort of a lumbar (lower-back) puncture or other long-term invasive approach, the brain shuttle approach helps drug discovery in two key ways.
First, it allows researchers to include people in clinical trials who previously were not eligible – namely, people genetically at risk for a disease but without symptoms. In terms of ethics and comfort, it is difficult to justify their participation because of the risk posed by invasive procedures.
With the brain shuttle, however, discomfort is reduced. So is the ethical barrier, because the injury risk diminishes.
Secondly, by including presymptomatic people in drug studies, researchers can measure how a drug affects a patient before the disease develops, thus providing clues about how to stop the disease from ever occurring.
Only a few years ago, this kind of approach to neurological drug research seemed futuristic. The lack of opportunities to participate in clinical trials and the absence of a strategy to prevent the disease in asymptomatic people have proved especially frustrating for the HD community, where people like me await in great fear the onset of a disease foretold by genetics.
A unique Alzheimer’s trial: intervening early
With Isis, Dr. Santarelli and Roche are working to raise the hope of preventing asymptomatic gene carriers from ever experiencing onset.
Roche is especially well-positioned because, as Dr. Santarelli pointed out, it focuses on both drug development and disease diagnostics.
Roche’s “strategic objective” is to intervene “as early as possible” in the course of the disease, he emphasized.
“As an organization, we’ve done this in Alzheimer’s,” he explained.
In developing its proposed Alzheimer’s drug, now under study in a clinical trial involving 800 patients, Roche has taken the unique step of including individuals who have not yet developed dementia, but have merely mild cognitive impairment, Dr. Santarelli said. (Click here for further background.)
In the trial Roche is using molecular testing to diagnose and select trial subjects at risk for Alzheimer’s. This is done by performing a lumbar puncture to obtain a sample of cerebral spinal fluid (CSF) to check the presence of amyloid, the substance that forms plaques in the brain of Alzheimer’s patients and is considered one of the causes of the disease.
If successful, the Roche drug will not only clear plaques from the brains of the Alzheimer’s patients but also delay (or stop) the progression of the disease, Dr. Santarelli said.
The diagnostic technique used in the trial to measure CSF amyloid is experimental and has yet to reach the market, Dr. Santarelli noted.
He stressed that the Roche approach involves both the more traditional clinical (observational) measurement of the patients’ symptoms and, with this new measurement technique, a molecular measurement.
Roche's “culture of combining diagnostics and therapeutics” will definitely provide useful for the development of HD drugs, Dr. Santarelli observed.
A number of other HD research efforts also focus on the search for molecular measurements.
Because of the highly experimental nature of the brain shuttle and the newness of Roche’s neurological diagnostics, Dr. Santarelli could not forecast when these approaches will bear fruit in HD research.
“We have to go through all the experimentation,” he said of the partnership with Isis.
Whatever the timeline, Roche will depend on collaboration with the HD community, as it has with advocates for other diseases.
“You guys are playing an extremely important role for lowering barriers to making progress in this area,” he said. “I feel personally honored that I can make a contribution in this area.”
Wednesday, April 17, 2013
(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 of Hangtime 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!
Our generous supporters
In the midst of these events, my wife, my daughter, and I sought fundraisers and walkers for the April 14 Team Hope Walk.
In the wake of my definitive exit from the “HD closet” (in an article in The Chronicle of Higher Education and an interview on the website of my employer, the University of San Diego), nearly 70 friends, colleagues, and other supporters donated more than $16,000 to the “Serbin Family Team” – more than three times our goal. (Overall, local HDSA board members expected the event to net more than $40,000 for the organization.)
Twelve volunteers joined us in the 5K walk at Tidewater Park in Coronado, CA, to help raise awareness about HD.
Members of "Serbin Family Team" at 2013 Hope Walk-San Diego (photo by Vince Margetta)
I felt enormous pride in my family, my friends and supporters, and the HD cause.
Love and humility
I was moved most by donations from individuals and families themselves hit with serious illnesses, all of them with at least a partial genetic basis: breast cancer, colon cancer, young onset Parkinson’s disease, fragile X syndrome, and multiple sclerosis.
My family and I learned of these other families’ struggles, including, in one case, a harrowing decision about genetic testing.
I was deeply moved by this outpouring of generosity and love.
For me, it was also a lesson in humility, a reminder that so many others suffer from disease, an opportunity to become more sensitive to others’ needs, including the need to support other causes.
Above all, the immense display of support for the “Serbin Family Team” stirred in me the same feeling of hope that I experienced in contemplating the Roche-Isis project.
Hope wins out
Sadly, just two days before the walk, I learned of the death of a fellow HD support group member, a 20-year Navy veteran and airline pilot whose career and life were cut short by Huntington’s disease. He was just 65.
“Damned disease finally won,” his mournful wife wrote me in an e-mail.
As on countless occasions in my battle against HD, I had to overcome a sense of hopelessness, which threatened to overpower all of the good feelings about the research and the Hope Walk.
At the Hope event, I hugged our departed friend’s wife. Everybody held a moment of silence for him.
Before setting out on the walk, I guided one of our team members, a ninth-grader with a passion for science and technology, over to the area where employees from walk co-sponsor Vertex Pharmaceuticals were congregating.
I introduced him to Paul Negulescu, the Vertex vice president of research, and mentioned that he aimed to become a researcher.
Paul invited him to visit the Vertex facility and, in the future, perhaps contribute as an intern.
“I want to cure diseases,” the budding scientist told me during the walk.
Our cause had lost a warrior, but the Hope Walk had helped prepare another to do battle.
(Below see other photos from the Hope Walk.)
"Serbin Family Team" members (left to right): friends Sofia, Jessica, Alejandro, and Victoria along with Ken Serbin, with San Diego skyline in background
"Serbin Family Team" members James Kohn (left), Ami Carpenter, and Ken Serbin at finish line
Vertex Vice President of Research Paul Negulescu (left), Ken Serbin, and Vertex Vice President, Biology, Beth Hoffman
"Team Vertex" and friends with San Diego-Coronado Bridge in background