Wednesday, March 23, 2011

Huntington’s disease, loneliness, and love

Imagine how lonely you would feel if you were a young person who knew you might never get married and have children because you faced a cruel and deadly genetic disease.

This is the harsh reality of many young people affected by or at risk for Huntington’s disease, which robs individuals of their abilities to walk, talk, think, and swallow. In the case of an affected male father, the children can inherit a far worse form of the disease, known as juvenile Huntington’s, with onset as early as infancy.

Starting in the teen years and extending into their mid-30s, dating for these people can become an incredibly difficult affair, instantly laden with fear and complex calculations about the future. Even though most standard testing centers won’t allow testing before age 18, those calculations can begin as soon as teens develop an interest in sex and procreation.

When will my symptoms start or worsen?

Should I opt for preimplantation genetic diagnosis to assure my children don’t have HD?

How will I be able to raise my children?

How will my spouse care for me, and for how long?

Why would anybody want to enter a relationship charged with such huge health and emotional challenges?

Will I end up alone?

Will anybody ever love me?

Understanding the pain

These are just some of the many questions that pass through the minds of young people in HD-affected families. The implications can become more serious as a person passes from at-risk to gene-positive status and ultimately on to the early symptoms.

As an HD-positive but currently asymptomatic person, I viscerally understand the emotional pain of young people in this predicament. Even though I have been fortunate to have a supportive wife, I have heard numerous depressing stories of the break-up of marriages and relationships where the mate could no longer handle the responsibility of caregiving.

And, as I await effective treatments to stave off the disease and advocate for the cause, I have experienced my own cascade of difficult emotions.

After writing about this in my last blog article, I received a comment from Nancy Hess, who tested negative for HD, about the deep loneliness we in the HD community can feel: “So often we find ourselves helping others comfort us when talking about HD. This can bring on an unexpected loneliness but then, as one might say to one's self from time to time, ‘Get over yourself!’ The truth is, there are only going to be a few in our lives who get it, and can stick with us through the dark passages.”

Fear of a lonely and love-less life dominate the stories of young people. Watch, for example, the short video “Five Women Speak from the Heart” on the homepage of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego).

“I felt like having kids was the number one thing in my life,” says Whitney, an at-risk woman whose father developed HD. “I felt like: is my life over?”

“The only thing I fear is just being alone, not having somebody, because I wouldn’t want to put anybody through what I’ve gone through,” says Kristen, whose mother was stricken with the disease. “So I couldn’t expect anybody to love me like my father loved my mother.”

Crying all day long

Recently, Jiyeon Kwon, a 19-year-old man with Huntington’s, wrote in an HD group on Facebook about the social burdens of the disease.

Sometimes I regret telling anyone about my diagnosis. Now I know that some of my friends pretty much define me by it. They probably look at me and see "the guy with Huntington's disease" or "the guy that's going to be dead in ten years." And some people treat me differently and let me get away with stuff they wouldn't let anyone else get away with. It's just frustrating, I guess. It's funny how people who you thought were good friends make a totally different image of you just because of one disease you happen to have. [quoted with Jiyeon’s permission]

We can gain even deeper insight into the emotional impact of HD on relationships by listening to words of the unaffected partner, as in this message that I recently received from a female college student:

I have an amazing and wonderful boyfriend who I plan on spending the rest of my life with. I found out a while back that his mother has Huntington's disease. To be honest, when I found out I didn't research much on what this disease was about. (I have also never met her.) So I didn't realize until today (from my science teacher) that my boyfriend has a 50 percent chance of inheriting this. I've never been so heartbroken and confused in my life. I don't know what to do. I don't know what to think. He's not one to really talk much about this so I don't even know the right way to bring it up. I've done nothing but cry all day long....

I'm so new to all of this, and all I know is all the negative things I've read on the internet. I'm scared for my boyfriend so much but I don't know if it's wrong to show my fear in front of him.

True, enduring love

Indeed, in these circumstances, love must be true to thrive and later endure.

My father and HD-stricken mother’s marriage was far from perfect, but they held on through the fifteen-plus years of her illness. My dad, the “Huntington’s disease warrior,” fed, bathed, and clothed Mom daily until she went into a nursing home in mid-2005. He visited her each day at the home until her death in February 2006.

Because Mom was falling ever more frequently, Dad probably should have relinquished his caregiver role even earlier. But then she may have died even sooner.

In this era of instant hero status, heroism has lost its meaning. Everybody, it seems, can be a hero for the proverbial 15 minutes. But Dad – and the millions of other caregivers in America looking after HD, Alzheimer’s, and other neurologically disabled people – are the real heroes. Nobody knew about him, but he got into the HD trenches every day for 15 years.

In my case, I am greatly blessed with the unbending support of my wife. We learned of my mother’s diagnosis just three years into our marriage and before attempting to have children. As a recent immigrant and still without an established career, she could have responded to the daunting prospect of caring for an HD-stricken husband and having affected children by taking the easy way out: returning to her home country of Brazil and her old job.

But she stuck with me then – and after I tested positive in 1999. The lasting bond we forged was further cemented by our good fortune in having our “miracle baby,” who tested negative in the womb. We know all too well the fear of passing on the defective gene.

In 2009 and 2010 she ran in a half-marathon to benefit HDSA. (Click here to read more about us.)

Support for families

I have gained an important lesson from my parents’ experience and my own family’s situation, as we face my inevitable incapacitation: HD families need greater support from HDSA, physicians, and local social services and clinics. As so many have stated before, HD is a family disease affecting everybody within the nuclear unit and often reaching far into the extended family.

Despite the immense health and social challenges of HD, many families and caregivers steadfastly support young people with the disease. The family of Terry Leach, a San Diego teen who first developed HD as an infant, has shown great love and togetherness in caring for him (click here to read more).

Many spouses and caregivers accompany their loved ones to the local support group. Some caregivers even attend after the patient has gone to a nursing home and can no longer join the group. In other cases, at-risk individuals are unwilling to participate in the group, but their potential caregivers attend anyway.

Doing the right thing

It’s also encouraging to see the young people who are standing by their partners and spouses. I was touched to read the comment to the Facebook HD group by one young woman who was “having the best week. I just got home from Disney World with my amazing boyfriend. We had the best time together. He takes such excellent care of me. I used my wheelchair at Disney World. It worked out great. I love my boyfriend with all my heart. I am so blessed that he is in my life.”

With such stories of commitment and my own years of experience in mind, I wrote back to the young, heartbroken girlfriend of the at-risk college student:

I think the best advice I can give is to be completely honest with yourself and your boyfriend. Do NOT hide or avoid or deny the subject of HD. It's best to meet it openly and head-on, although always with patience, gentleness, and kindness. I am a firm believer that hiding the truth can be convenient and easy in the short run but ends up doing very serious damage in the long run. You're doing the right thing by learning about the disease and all that it could mean for your boyfriend. And it's important for you to stand by him as a girlfriend and as a friend. We cannot predict the future, but even if you end up not being in each other's life down the road, you will have done the right thing by supporting him at this point.

Monday, March 14, 2011

A cascade of emotions about Huntington’s disease

The world will remember Friday, March 11, 2011, as the day that a devastating earthquake and tsunami overwhelmed Japan and triggered a potential nuclear disaster in a land already scarred by the bombs of Hiroshima and Nagasaki.

I also will remember that day for some very personal reasons: a cascade of difficult feelings about Huntington’s disease nearly overwhelmed me.

My heart goes out to the people of Japan. More than ever, the world needs to show solidarity with the victims of natural and manmade disasters.

I’m also reminded of the need for solidarity with people affected by HD and so many other similar diseases – like an acquaintance, the mother of three, struck down in her prime by multiple sclerosis.

Memories of testing

My own series of difficult feelings began the evening of Sunday, March 6, when I checked one of the HD groups on Facebook and read about a young man in the armed forces who was getting tested for the disease. The young man’s father has HD, and his mother was seeking advice from the group.

The military doctor knew nothing about HD. The clinic drew the serviceman’s blood and sent it to a commercial testing service. The serviceman received none of the pre-test genetic counseling that is mandatory at clinics that follow accepted standards for genetic testing.

The young man’s situation triggered a flood of memories of my own genetic test for HD in 1999. My wife and I received counseling prior to obtaining my result, and, as my support person, my wife was required to be at my side at the moment the doctor revealed the result. The counselor was also present on that day.

I tested positive. My wife and I left the medical office in a daze. As I backed our car out of the space in the parking garage, I swung too far to the right and scraped the right front fender on a column (click here to read more).

I felt deep anger, frustration, and resignation. Now I knew that I would share the HD fate of my mother, who already had full-blown HD and had lost most of her ability to speak and care for herself. She ultimately died of HD in 2006.

Desperately wanting to help

I desperately wanted to help the young serviceman obtain support.

I wrote to the Facebook HD group:

“He should NOT just test instantly like that! There is a protocol that requires counseling from a genetic counselor and a psychologist. … Testing is a huge event in a person's life – whether the result is negative or positive. A counselor or psychological support person should be there when he gets the results, and also a friend, spouse, or other family member.... Also, it's important to remember: a positive test result for HD is NOT a diagnosis for HD. The person can live years or even decades without symptoms.”

I frantically began to work my contacts in the local community to see if we could arrange for a genetic counselor or other professional support person to assist him on the day of his test results.

Driving home our message

Before I got too far, though, his mother notified the group: he tested negative!

What a relief! I thought.

But, also, what a close call! I wondered: how would he have reacted had he tested positive?

This young man’s story once again underscored the message that I and other HD activists must drive home.

Sadly, HD remains a largely unknown disease, even within the medical community. As a society we need to build greater awareness about orphan diseases, provide up-to-date information on the procedures and implications of genetic testing, and be on the lookout for potential genetic discrimination.

Sharing my story (again)

As other HD community members and I attempted to assist the serviceman and his family, I braced myself for another stage in my transition to a public advocate for HD.

On February 7, I gave a public speech to some 250 people at the annual “Super Bowl” of Huntington’s research, the 6th Annual HD Therapeutics Conference, held in Palm Springs, California, and sponsored by the CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative.” And on February 28 I came out about my gene-positive status in a talk to the local support group in San Diego.

A couple days later, I read that a former college classmate, now a prominent philanthropist and documentary filmmaker, would be in town on March 8 to give a presentation.

We hadn’t seen each other since graduation from Yale in May 1982, but I decided to attend her event as a show of support for her work in social justice and women’s rights.

Before the event, I wrote her a personal letter thanking her for her social commitment.

“I wanted to share with you my own odyssey of the past 16 years advocating against genetic discrimination and raising awareness about the need to find treatments for Huntington’s disease (HD) and other orphan diseases and neurological disorders,” I wrote. “I believe all areas of social justice are interconnected.… So I believe we share common ground.”

Before she gave her speech, my classmate greeted me warmly. We hugged, and she asked me about what I had been up to since graduation. I told her of my deep involvement with Brazil as a professor of history.

Afterwards, I went to congratulate her. I gave her an envelope with my letter – and a copy of my CHDI speech, “Blog Entry No. 85 … Unmasking the World of Gene Veritas: An Activist Copes with the Threat of Huntington’s Disease.”

Struggling with doubts

My old classmate is extremely busy, so I don’t know yet whether she read the letter or watched my speech.

But, as I said in an e-mail to some friends, the reconnection with my classmate was “very emotional.”

Just seeing a classmate for the first time in nearly three decades was enough emotion for one day.

But, on top of that, came my HD activism – my life’s work, my life itself, so deeply affected by my mother’s demise and my inheriting the defective gene from her.

I struggled with doubts in the days leading up to her event: should I “bother” her by coming out about something so sad and complex as Huntington’s disease and its terrible impact on families? Isn’t it presumptuous of me to give her a letter and my DVD after so many years of no contact? Will she be interested in the cause in any way?

“Maybe she’ll make a film about HD,” a friend and HD activist suggested hopefully.

“I didn’t ask for anything in the letter,” I replied. “I am doing my job as an advocate: getting the word out about HD. I will just be happy if there is just one more person praying for us.”

Testing the waters in the workplace

On Thursday, March 10, I started exploring a huge and inevitable step: coming out about my HD status in the workplace, potentially the most explosive arena of my life in terms of genetic discrimination.

During lunch with a trusted co-worker, I mentioned that I was living an extremely intense period of my life outside of work.

This was the very first time that I alluded to my activism after erecting an absolute firewall between my HD life and my professional life following my mother’s diagnosis in 1995. I have kept that firewall intact because of fear of genetic discrimination.

The disintegrating firewall

I didn’t mention the word “disease” to my co-worker, but I did explain that I am involved with a cause and a situation that could ultimately impact my situation in the workplace. I revealed to her that I had given a speech and that I would like to give her a copy of it sometime. I asked her to keep my situation confidential for now.

My stomach felt as if it were turning upside down, and my mind wanted to go blank. I was having a difficult time finding the right words.

I felt the firewall between my job and my activism being disintegrated by my words and the violent currents of my fears about a future with Huntington’s disease. As if to act out this huge change in my life, I moved my arms back and forth next to each other along the table. This gesture represented my dual life – my job and my HD activism moving in parallel and never intersecting.

My co-worker sensed my difficulties and reassured me by saying that I should tell my story on my own terms and on my own schedule.

Indeed, as I told her, I still haven’t worked out for myself how to proceed on the professional front.

Planning a trip to Alnylam

More than a month has passed since my CHDI speech. I’m living as intensely as ever as I step further and further out of the HD closet.

I turned 51 last December, and as I progress into this decade of my life, I will get closer to the inevitable onset of the HD symptoms that destroyed my mother’s mind and her ability to walk and eat.

But there has never been a time of greater hope in the quest of scientists to find treatments and a cure for HD.

In the midst of my personal churn of emotions last week I firmed up plans to visit Alnylam Pharmaceuticals in May to give a talk on HD and observe the companies’ researchers at work on a potentially revolutionary treatment using RNA interference to stop the disease at its genetic roots.

A break from the real battles

Luckily, I began a week’s vacation on March 11.

That also happened to be the opening day for the film Battle: Los Angeles, about an invasion of aliens seeking to colonize Earth for its water resources.

After school I picked up my daughter – our 10-year-old “miracle baby,” who tested negative in the womb for HD.

As the first act of her weekend and my vacation, we headed for the movie theatre.

Life’s major battles continued – in the stark reality of both the Japanese tsunami and the search for treatments and cures for HD and other life-sapping neurological conditions.

And also in the fantasies of Hollywood, where, for at least a couple hours, I could find a bit of escape and catharsis.

Thursday, March 03, 2011

Huntington’s support group: seeking solidarity, fighting denial

As I live at risk for Huntington’s disease, one of the toughest things for me is to attend the local support group.

I began attending the San Diego group in January 1996, a few weeks after learning of my mother’s diagnosis for HD and the fact that I had a 50-50 chance of inheriting the disease.

At the monthly meetings, my wife and I always saw people afflicted with various stages of HD.

From those very first meetings, I remember one man, probably in his early forties, whose body moved uncontrollably the entire meeting. He was sitting in front of us, and he kept shifting in his chair and lifting it up and down, causing it to move back towards us.

He and I later had a phone conversation. He could still talk, but he spoke slowly and with a kind of quiet stammer, typical of many HD people, who ultimately lose the capacity to communicate. A computer programmer, he explained that he had to quit working after he was unable to finish an important project.

Seeing him and so many other HD people sent a paralyzing chill through my body. This, I knew, could be my future: shaking, unable to work, and dependent on my wife and others.

I always wanted to turn away from HD people, but there they were confronting me with their progressively listless expressions and struggles to maintain their humanity as their brains melted away.

I witnessed HD’s relentless attack on my own mother during visits back to my hometown outside of Cleveland, Ohio.

In San Diego, my wife and I always left support group feeling as if we had just departed from the wake of a loved one. The horrific symptoms of HD and the threat of an early death seemed to stalk us in the car as we drove home. It always took me a few days to feel normal and unthreatened by HD.

Protecting our privacy

But we kept going back. I needed to learn about HD in order to pass on caregiving advice to my father and sister back in Ohio, and I wanted to absorb every bit of information about how to prevent the disease from affecting me. I also knew that we had strength in numbers. Both my wife and I found comfort in sharing our fears with other members of the group, which frequently subdivided into smaller groups for the affected, the at-risk, and the caregivers.

We were regulars for several years. Even so, I was extremely guarded in sharing my most personal details. I decided to get tested (in June 1999) without airing the idea to my at-risk friends, and I told none of them about my gene-positive result. I did reveal that our daughter had tested negative in the womb (in January 2000), but provided no details about that process, including the fact that I had decided on testing mainly because we wanted to have a child.

I wanted to protect my privacy in order to avoid someone at work or in my profession finding about my situation, so my wife and I adopted a policy of secrecy.

Returning to my roots

At the time of our daughter’s birth in mid-2000 I was becoming ever more deeply involved as a board member for the local chapter of the Huntington’s Disease Society of America. Combined with our daughter’s arrival, that big life change left us little time for support group. My wife stopped attending in order to watch the baby. I attended monthly board meetings instead.

Last October, after twelve and a half years on the board, I decided to resign in order to devote time to other aspects of the HD movement. I also want to enjoy life and my family more before the inevitable symptoms start.

Now I have returned to my roots in the movement: the support group. In 2010, I began exiting the HD closet, and last month I decisively left it after delivering the keynote address to the “Super Bowl” of HD research in Palm Springs, California, and putting the speech online. The meeting was sponsored by the CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative.”

I’m looking to my fellow support group members to help me make this momentous transition in my life. And I want to support others in their travails with Huntington’s disease.

‘I am gene-positive’

I volunteered to speak before the group on February 28. The topic: “a gene-positive activist copes with the threat of HD.”

I had taken months and countless hours to prepare for my speech in Palm Springs to some 200 of the world’s leading HD researchers. I was on edge for weeks. Yet I had achieved a state of calm on the day of the event.

Not so on the day of my talk to the support group. I felt very uneasy about speaking before this much smaller and much more intimate audience of about 40 people.

“I am gene-positive for HD,” I told them very early in my talk, which repeated many of the main points of my CHDI presentation.

For the very first time, I explicitly revealed my status to the support group.

I explained how I had created the pseudonym “Gene Veritas” for this blog and was now “unmasking” Gene to reveal my real identity.

Connecting with my 'HD family'

Revealing the truth of my genes to this familiar group of people moved me profoundly. Long-time caregivers watched intently. People who had tested negative after years of fear had knowing looks on their faces. Just a few feet from me sat several people with very noticeable symptoms – but not bad enough to prevent them from attending, unlike former members of the group now in a nursing home. They understood everything I said.

These people lived in my community, and we shared so much in common in our long struggle against HD.

With great sadness, I mentioned my parents’ long fight together against Huntington’s. I recalled my mom’s death in 2006 and how my dad, the “HD warrior,” was never the same man after she died. He passed in September 2009.

Everybody understood. I felt naked as I shared my feelings and experiences, and I felt deeply connected to everybody in the room.

It was as if I were speaking to one, big extended family.

A new theme: denial

I introduced another theme that had never been so openly discussed at the support group: denial.

I pointed out that I had engaged in my own form of denial in part by keeping my gene-positive status a secret and adopting a pen name. (But I have confronted denial in this blog).

In fact, perhaps more than anything else, coming out about Huntington’s caused the discomfort I felt before, during, and after this talk. In exposing the truth to others, I could no longer hide it from myself.

The threat of HD has moved again to the forefront of my life, and for good, until an effective treatment is found.

I also spoke of the deep denial of HD in my extended family. It led my mom’s brother and his wife to tell their children that mom had “mental problems.” My sister and I no longer talk because of deep disagreements about HD and caregiving for our parents. (I told the group that she found out about HD after having her three sons and has lived the past 15 years in HD limbo, as no one in her family has been tested for the disease.)

A challenge

I told the group that the time had come for me – and for everybody else in the HD community – to take off our masks. It is time for the “faceless faces” of HD people to reveal their situation and end the stigma of Huntington’s disease, as Florida HD activist and filmmaker James Valvano has proposed in his latest project (click here to read more). (You can also find James on Facebook.)

I issued a challenge to myself and everybody in the room: we all needed to get our relatives, friends, and acquaintances involved in the HD movement.

More than ever, there is hope of an effective treatment, I told the group, summarizing some of the impressive advances reported at the CHDI meeting. Clinical trials are being planned for at least two major approaches to stopping HD at its genetic roots.

However, without involvement by the community in clinical trials, all the scientific skill and money in the world will not stop HD. The researchers need people to test their drugs for safety and efficacy.

How to combat denial

After the talk, I answered questions and posed some of my own to the group.

I wanted to know: how could we end the denial of HD in our families?

The ideas flowed. One fellow activist, who recently tested negative after years of fearing the disease, proposed that we stand with signs at high-traffic street corners telling people about HD and the need to stop it. Another participant said that we should share our experiences with denial and help one another strategize on how to combat it.

Someone else pointed out that families should ensure that “Huntington’s disease” is listed as the cause of death on their loved ones’ death certificates. Often health care workers or officials have omitted HD, further pushing the disease into the darkness.

Others pointed out that it’s important not to judge those who don’t – or won’t – join the cause. “Every HD patient is different,” said one participant.

Compassion and hope

I also wanted to know: should I try to help stop denial in my own extended family? Should I send a DVD of my CHDI speech to my sister and my uncle?

A number of people said that I definitely should, but with a cover letter explaining my situation and the disease.

Another person disagreed strongly. It was more important to seek the help of those who already showed solidarity with the cause.

Yet another said that, if someday my relatives have questions about HD, they might not seek advice from me, but from someone else in the HD community. It was important to let the relatives take the initiative.

Others expressed what might ultimately be the most important approach: to present HD as something that is not shameful, to have compassion for people like my sister, and to deliver the new message of hope made possible by the latest scientific breakthroughs.

It was time to go, but we had taken a step towards overcoming one of the biggest obstacles to the success of our cause and the discovery of effective treatments.

For me, the talk reinforced my goal of motivating people to overcome denial and join the cause.