The words come like a slap in the face:
I already have Huntington’s disease.
Even though I do not yet have the classic, overt symptoms of the disease such as shaking limbs, slurred speech, and decreased mental capacity, the fact that I inherited the genetic defect for HD from my mother means that my brain cells have already been compromised.
This is the new way that Huntington’s disease must be seen by patients, physicians, researchers, and public agencies, according to Robi Blumenstein, the president of CHDI Management, Inc., the firm that carries out the
CHDI Foundation’s quest for treatments and a cure. (CHDI once stood for “Cure Huntington’s Disease Initiative,” but today is simply the name of the two organizations.)
Advances in scientific understanding of HD – including its early, subtle signs – have wiped out the old paradigm of classifying individuals as gene-positive but asymptomatic. The symptoms are already there on the cellular level, even if they don’t seem to affect daily life.
I visited CHDI’s Los Angeles research office on July 20 to meet Robi, staff members, and several of the many full-time researchers who are focusing exclusively on designing potential drugs to combat Huntington’s.
(This is the first in a series of entries on CHDI that will focus on this drug-discovery organization and its potential pipeline of Huntington’s treatments. The many possibilities in that pipeline reflect how HD attacks cells and the brain on many fronts.)
Personal feelings and our cause
Robi, who has read my blog for years and always thought of me as “Gene Veritas,” met me in person for the first time. Although
I did not think of myself any differently, I at first felt awkward because I could see that Robi was suddenly absorbing myriads of new information about a person he had known only through an online pseudonym.
I had a similarly unnerving feeling when Robi, in introducing me to others, stated right off that I was gene-positive. I had never been introduced as such, and I could feel my good old friend denial wanting to split off my “Gene Veritas” identity and kick it out of the room. By visiting CHDI, I was taking a definitive step towards being more open about my HD status and more public in advocating the cause to eradicate the disease.
These personal feelings transcended my own individual predicament. Robi and I immediately launched into a discussion about how the world sees HD and why it’s all-important to galvanize people – especially in the HD community itself – to join the cause. Fear, ignorance, denial, courage, dedication, and the plethora of other reactions of HD families all complicate the decision engage in HD activism.
Robi, CHDI, and others in the HD community worry that potential treatments could start flowing out of the pipeline, but a shortage of participants in clinical trials and the lack of imagination of some trial administrators could prevent new drugs from getting properly tested and ultimately approved. (
I had written about this topic on July 14.)
Seeking to inspire people
How, we asked ourselves, could we inform the community that researchers’ new view of HD has redefined how the disease should be dealt with by affected families? What would inspire people to become more active?
CHDI itself has been somewhat of a mystery to the HD community, even though last year it had a budget of $80 million, making it by far the largest non-governmental concern working on treatments for HD. Focused purely on science and drug discovery, CHDI has quietly gone about its work with the support of a donor who, like so many of us in the HD community, prefers to remain anonymous.
But because of the need to engage with HD families, CHDI needs to communicate better, as does the more traditional HDSA, in which I have been an activist since 1998.
Increased knowledge about HD and how to measure its early stages have opened up the possibility of new drugs, and this in turn requires new ways to measure these drugs’ impact. MRI scans, for example, can show major changes in the brain of HD people many years before the classic symptoms appear. Similarly, scientists believe that early stages of the disease affect the sense of smell and certain fine motor skills.
Time to change attitudes
The medical community used to tell gene-positive people to take good care of their general health and simply hope the symptoms would appear late in life. For these people life is a time bomb. Individuals like my own sister, who has not been tested for HD and is in deep denial about the disease, say there is nothing they should do because there are no treatments. (
Click here to read more about my extended family’s reactions to Huntington’s disease.) In fact, most at-risk people refuse testing.
The new HD paradigm, however, will require a big shift in attitudes, if we are to be ready for the treatments that CHDI and others are aiming to produce.
Robi described a simple but extremely important example of a time-honored test neurologists use to check Huntington’s patients’ motor skills. At the direction of the doctor the patient taps his or her index finger and thumb together rapidly. Early on people with HD lose the ability to perform this function.
One or more potential drugs against HD might prevent the loss of this capability, with the drugs' effectiveness measured through this simple test. But, as Robi pointed out, people in the medical and research community with traditional views of drug development might dismiss a treatment for something so seemingly unimportant if they do not clearly understand its importance as an indicator of neurological damage.
Get thee to a clinic
Everybody in the HD community – both the tested and the untested – should visit one of the 22
HDSA Centers of Excellence or other neurological clinics to be examined on a regular basis and to participate in the long-term studies that track the impact of the disease. People also should learn about clinical trials in their area. Centers of Excellence are a good source of information, as is the website
HD Trials.
It is also time for new attitudes about genetic testing. For too long, people have avoided testing, fearing a potential death sentence. HD families must see testing as a way to connect with the effort to treat the disease and find a cure.
When scientists discovered the HD gene in 1993, nobody could yet speak of a drug pipeline. Today that pipeline exists with a large number of so-called drug targets, potential ways of alleviating and perhaps even stopping the disease.
Tested individuals are an important piece of evidence in the HD puzzle – not only for this generation but the next. Rather than a burden, testing can be seen as a step toward contributing to the greater good and the reaffirmation of life.
Getting tested requires great courage. But everybody has the potential to stir up that courage.
Going public
HD families must become more public, at the very least within our community. I have attended dozens of local fundraisers and other events over the years. These events are
for the benefit of our families and HD people. But how many HD people and their families actually attend? Very few!
It’s not easy to get out of the house while suffering from HD. I know it’s difficult, because I had to help my own mother, who died of HD in 2006 at the age of 68, get in and out of cars, wheelchairs, and bathroom stalls.
But it’s not impossible. Centers of Excellence, support groups, caregiver resource centers, and other agencies offer strategies for keeping HD people mobile. Families can also consult the many books on caregiving such as
Lessons from the Ancients: A Humorously Helpful Guide for Caregiving, by veteran HDSA activist Jim Calhoun.
HD families should become involved in support groups, the governing boards of local chapters, fundraising, and advocacy.
HDSA is supporting House Bill 678, which would end the standard two-year waiting period for disabled HD people to receive government benefits (
click here to read more about the bill). Ask your congressional representative to co-sponsor this bill.
People can also tell their stories to the local media, via blogs, and on the websites of local chapters and organizations such as the
Huntington’s Disease Advocacy Center.
As one leading HD activist put it recently at an HDSA support group, if we won’t help ourselves and speak out, why should anybody else care about us?
HD families need to press the flesh more often – within the community and in public. As painful as it may be, we also need to remind family members who are in deep denial that they can make a difference.
Strength in numbers
My own feelings and experience parallel what has happened in the HD community since the discovery of the gene in 1993 and the resultant promise of treatments and a cure.
I have struggled to strike a balance between the need to build public awareness about HD and the impulse to remain anonymous and shield myself, my career, and my family from the terrible prejudices, job worries, and insurance nightmares that surround Huntington’s and other neurological diseases.
Now we in the HD community have reached a critical juncture. With the hope of treatments and a cure, the time has come to speak out and build strength in numbers.
Tags: Huntington's disease, symptoms, genetic defect, mother, brain, cells, Robi Blumenstein, CHDI, drug, gene-positive, denial, HD, activism, activist, treatment, drug pipeline, families, drug discovery, anonymous, MRI, smell, motor skills, time bomb, family, at-risk, testing, test, attitude, neurologist, clinic, HDSA, Center of Excellence, trial, Jim Calhoun, Lessons from the Ancients, fundraising, advocacy, House Bill 678, Huntington's Disease Advocacy Center