The mission of a lifetime

How can people affected or threatened by a cruel and incurable disease help inspire the world of science to work for treatments and a cure?

I will humbly but purposefully attempt to meet this challenge when I give the keynote speech to Huntington’s disease researchers from around the world at CHDI’s 6th Annual HD Therapeutics Conference at the Parker Palm Springs hotel in Palm Springs, CA, on February 7, 2011.

I recently received the formal invitation to speak from Robi Blumenstein, the president of CHDI Management, Inc., which implements the goals of the CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative.” Funded by an anonymous donor who has put tens of millions of dollars into the project, CHDI functions as a virtual biotech company and is the leading private source of HD research funds.

The conference will begin with my speech on the night of February 7. Taking place one day after professional football’s Super Sunday, the four-day CHDI conference serves as the “Super Bowl” of Huntington’s research.

At last year’s 5th annual conference, which I attended (click here to read more), several hundred scientists participated. Dozens gave presentations regarding the latest breakthroughs in understanding HD and finding drugs to stop it. Representatives of the Huntington’s Disease Society of America (HDSA) and the HD associations of other countries, as well as individuals from affected families and pharmaceutical companies, participated in the meeting. Another turnout of several hundred is expected for 2011.

An energizing task

Robi first mentioned the possibility of me as a keynoter during the 2010 conference. Robi, a regular reader of this blog, and I had met in July 2009, when I spent a day at CHDI’s research headquarters in Los Angeles (click here to read more). Since then, we have periodically exchanged ideas about the HD cause.

The idea of taking on such an important task energized much of my Huntington’s disease advocacy this year. I have been thinking intensely about the speech ever since. I’ve written most of this year’s blog entries with an eye to garnering ideas for the keynote.

It’s a huge responsibility, because, for 60 minutes, I will be representing the HD community. It’s now abundantly clear that HD-affected families and the scientists are inextricably linked. The families need the scientists to stop HD, and the scientists need the families to confirm their research through clinical and observational trials.

Just this past Tuesday, December 14, I did my annual battery of cognitive testing at the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego. For two hours, under the guidance of a volunteer pre-med student, I performed such exercises as repeating series of numbers forward and backwards, creating lists of words beginning with a particular letter, and discerning patterns of diagrams.

These tests help measure whether symptoms such as dementia have begun, and they provide raw data to researchers studying brain imaging and other aspects of HD.

Finding a new dimension

In my speech, I will need to illustrate the many common challenges faced by HD families. This year I’ve become especially attuned to the suffering of affected and gene-positive individuals by spending many hours reading the stories they have posted through Facebook HD groups such as “Ri Hdsa” and “hd family.”

As I write my speech, I’ve followed the fate of a child hospitalized with severe juvenile HD and read the messages of a young, affected woman fearful that she’ll never be loved and be able to have children. There are many other stories like these.

I also must prepare a speech that brings the human side of the disease home to the researchers who are accustomed to focusing on their lab work. Building on past keynote speakers such as the HD-positive former NBC correspondent Charles Sabine, I must discover a new dimension of the presymptomatic HD person and provide the scientists with some new insight into the disease and their goal of eliminating it.

Exiting the HD closet

At the keynote, I will take my biggest step ever out of the HD closet. I long remained in that closet for fear of discrimination at work, on insurance questions, and in the health care system.

As I did in Brazil in June and at Vertex Pharmaceuticals in September, I will speak in public using my real name. The first two speeches didn’t receive any outside publicity beyond my blog, but my CHDI presentation will be seen by people from around the world and likely generate comments on the web. I am also mulling whether to post a video of the keynote on the web.

I made the 2010 talks and other forms of more public advocacy a trial run for the CHDI talk and the likely greater impact it will have. In the coming days I also will consult trusted friends and professional colleagues on the question of exactly how to become more public and how to deal with the effects, both positive and negative.

So far, speaking out publicly has helped make more people aware of HD, but it has also caused me stress as I worry about long-term, as yet unforeseeable consequences on my family, my job, and my psyche.

A pivotal moment

At this moment, three important points in my life are converging: the end of an extremely busy and productive year on the HD front (for me personally and for the cause as a whole); the holidays and my 51st birthday on December 31; and my preparation to kick off the CHDI Super Bowl.

The holidays will be especially poignant because this December 26 marks the 15th anniversary of the day I received the news of my mother’s diagnosis. February 13 – one week after the CHDI meeting – will mark the fifth anniversary of my mother’s death.

The CHDI keynote will be a pivotal moment. In many respects it marks the culmination of those 15 years of my personal battle to avoid Huntington’s disease and to build support for the cure.

My life’s mission

This speech symbolizes my life’s mission: a personal struggle against a cruel and fatal disease that cut short my mother’s life at age 68 and likely will similarly inflict itself on me – and, somehow, a joining of hands with the researchers pioneering the newest frontiers of science in order to unlock the mysteries of Huntington’s and by extension other brain diseases.

The aftermath will open a new phase in my life as I seek to become a more effective advocate. This will involve the big effects of becoming ever more open about my HD-positive status, but also the small effects of action in one-on-one conversations, in venues such as the local HD support group, and in writing about the scientific work that I fervently hope could save me and thousands more from the ravages of Huntington’s.