Wednesday, September 23, 2009

The unending 'thank you'

Make no mistake about it, living at risk for a debilitating brain disorder like Huntington’s disease is a harrowing experience. During the past fourteen years, I learned of my mother’s diagnosis, tested positive for the disease, awaited the results from the testing of our daughter while still in the womb (she was negative), experienced rejection from relatives, saw my mother decline and die at a relatively early age (68), and wondered almost daily about when my own symptoms will start.

I often feel alone and hopeless.

But along the way some remarkable individuals from all walks of life have supported the fight to alleviate Huntington’s disease.

And that’s when I gain the strength and confidence to keep up my own individual fight to delay the onset of my symptoms and step up my activism for the Huntington’s Disease Society of America (HDSA).

Many of the people most devoted to the cause have no HD in their family. Some had never heard of Huntington’s disease before coming into contact with the HDSA through a fundraising event.

Support in times of tragedy

In the eleven and a half years that I have volunteered for HDSA, I have seen thousands of different individuals attend the dozens of fundraisers that our local chapter has put on, from go-kart races to sumptuous galas.

A couple of these events took place right after September 11, 2001. Despite the fear and anger gripping our nation, people still attended those events and made generous donations.

A year ago, when the national financial meltdown was leading many to speak of another Great Depression, our local chapter raised a record amount of money at our annual Celebration of Hope Gala.

I am always moved by such outpourings of solidarity and the human spirit.

Huntington’s disease shocks people when they learn of the devastating, dehumanizing symptoms that in the end leave people unable to walk, talk, and swallow. I am highly impressed that our supporters do not shy away from HD’s horrors.

It’s impossible to meet most of these people personally. Our chapter offers its thanks by publicly recognizing these individuals and their organizations on our website, in our newsletters, and in our event materials.

“Thank you” is a universal term uttered countless times each day, yet nobody grows tired of it. It’s a basic part of our humanity, of our mutual dependence.

In the struggle against HD – an orphan disease still unknown to most people and a huge stigma for many of those who have it – we know how much we depend on our supporters.

A personal thanks

Last Friday evening my wife and I did our small part in thanking one very special group of supporters: the HDSA-San Diego Board of Directors. We invited the board over to our house to enjoy snacks, drinks, and conversation around our brand new swimming pool. In part we built the pool so that I can keep in shape and perhaps delay the onset of symptoms or at least alleviate them (click here to read more). But we also wanted to share it with people like the dedicated and caring members of the board.

I have been a non-public member of this board since 1998 and have served on it longer than any current member.

In scores of meetings over the years, we have challenged one another to be more effective fundraisers, advocates, and supporters of the local HD support group and HDSA Center of Excellence for Family Services and Research at the University of California, San Diego. These meetings are among the most demanding, most important brainstorming sessions in which I have ever taken part.

We constantly ask ourselves the question: how do we bring greater attention to our cause?

The board members – most of them without HD in their families – attend some of the support group meetings to gain firsthand knowledge of the disease. They work many evenings and weekends planning our fundraising events and seeking sponsors and auction items. Their networking skills are superb. They visit the county hospital during the holidays to take gifts to HD patients. They tirelessly advocate for greater public awareness of HD, public investment in HD-related stem-cell research, and the passage of federal legislation to bring disability benefits more quickly to those stricken with the disease. They donate large sums, and they run in marathons and other races to bring in yet more money.

Not surprisingly, HDSA-San Diego has twice been named HDSA’s Chapter of the Year.

Working against time

Because board members know how desperately HD families need treatments and a cure, they waste no time.

In fact, the board works so fast and so consistently that it rarely has the opportunity to give itself credit for its many accomplishments.

In contrast with the board and support group meetings, our party provided some fun and relaxation, an opportunity for us to share more of our lives and thoughts without the relentless deadlines and the depressing realities of Huntington’s as our central focus.

It’s those awful realities that make the need for care of patients and the cure of the disease such an urgent task. With this board and our many supporters, as well as the many scientists whose research their efforts help fund, we have a team that can reach this goal.

And for that I write these words again: thank you.

Saturday, September 19, 2009

In the midst of the hurricane

When I write about my experiences living at risk for Huntington’s disease, the themes usually hit me in the face.

But sometimes so much is happening that it all seems like a big jumble in my mind, as if a hurricane is passing by, threatening to fling heavy debris at me or to sweep me up in its powerful winds. When I get this feeling, I feel I must hunker down and concentrate on the essential aspects of life – such as survival and family – just as I once did while taking shelter in the interior bathroom of a condo during a real hurricane.

I started to get this feeling a couple weeks ago after talking to a young man who has begun to experience HD symptoms. He had moved to San Diego to seek assistance from the local chapter of the Huntington’s Disease Society of America (HDSA), and he had some ideas he wanted to share about a project.

A couple of people in the chapter tried to follow up with him but got no response. Finally, I decided to call.

Just 22 years old

“How are you?” I asked, trying to start of the conversation politely with a person I had never seen nor spoken to before.

“Not good,” he said.

“Do you have HD?” I asked.

“Yes. I just spent a week in the hospital because of psychiatric problems from my HD.”

He didn’t even tell me his idea for a chapter activity. It was now irrelevant because of his medical difficulties. He was leaving San Diego in a few days to return to his hometown in another state.

“There’s nobody here to take care of me,” he said. “I can’t take care of myself anymore, and my family back home is going to care for me.”

He was only 22. HD had cut him down at the start of his life, precisely at the moment when people dream of a better future for themselves and for the world, a time when most people feel invincible. Unless an effective treatment or cure is found, he likely will die before he is 40, after many grueling years as a witness to his own demise.

Wanting to reach out

I thought of how lucky I have been to have approached 50 without suffering any overt symptoms of Huntington’s. I wanted to spring into action immediately. I wanted to interview this young man and present his words and photograph to the blogosphere. I wanted to redouble my efforts to make sure that neither I nor anybody else faces the same fate.

The young man departed without me having a chance to follow up, and I turned my attention to other HDSA matters.

I especially needed to return to my reportage on the project that today provides the biggest ray of hope for the HD community: the research supported by the CHDI Foundation, Inc.

In preparation for an article on the CHDI drug pipeline, I have been reviewing the audio interviews that I recorded with CHDI researchers in Los Angeles on July 20 (click here to read my initial feelings about the visit).

Transcribing the future

These are not your ordinary interviews. A team of Ph.D.s in the sciences provided me with an overview of their efforts to stop HD. They stand at the cutting edge of science, and, if successful, their project would make history.

I need to get this right. I must understand these interviews with exactitude – for myself and for the many people in the HD community who do not yet know of CHDI’s efforts or have only a vague notion of the researchers' progress.

Transcribing an interview is painstaking; the process usually requires several hours of work per hour of recording. This has taken longer, as the scientists’ many technical terms and highly complex descriptions make the material almost like a foreign language.

I am also transcribing my future, for better or for worse. The disease processes described by the scientists are perhaps already devastating my brain cells and putting me on the same path as my mother, who died of HD in 2006 after losing the ability to walk, eat, and talk. And the treatments they are investigating could rescue me from the disease.

Like my difficult feelings about people with Huntington’s disease, all of this information puts more force into the emotional hurricane of my own life as gene-positive for HD. Like a hurricane’s destructiveness, the outcome is unpredictable.

Making vital connections

It’s vital to spread the word about CHDI and also about the activities of gene-positive people like me.

As Dr. Robert Pacifici, the chief scientific officer of CHDI Management, Inc., explained, the organization is building a database that will help build better connections between HD researchers and the broader scientific community.

CHDI also seeks to learn more about the behavioral patterns of patients and at-risk individuals.

In Dr. Pacifici’s words, the sharing of information allows researchers to leverage it for the benefit of finding a treatment or cure more quickly. Someone, somewhere, could make that eureka connection.

It’s so important for us in the HD community to make connections too – in this case, with the researchers, with the donors who support our cause, with people suffering other diseases, and, above all, with each other. In doing so, we can all help make that final big connection that will end this disease.

If I can find him, I want to talk to the 22-year-old man with HD again. He’s certainly been tossed about in his own emotional hurricane. He and so many others need a strong hand to help them make their own connections.