Thursday, August 27, 2009

Imagining a world without Huntington's

Today I write with the raw emotion of a son on the verge of losing his father and yearning for a world without Huntington’s disease.

I want peace for him and for me. I fear for his life, and I wearily mourn his struggles to keep going in life against great odds during the last two decades.

My father, who turns 82 on October 1, broke his femur last Thursday, August 20, after he fell in his room at an assisted living facility back in my Midwestern hometown. Steadily losing weight and refusing to eat enough since he went into the facility last fall, today he was transferred from a hospital to a nursing home. In April he had suffered an apparent stroke that has left him unable to say more than a few phrases.

My father was a Huntington’s disease warrior, a flawed but courageous man who cared for my mother from the early 1990s until she went into a nursing home in mid-2005.

Painful memories

Now, like her, he needs a feeding tube to keep going. But the doctors fear that he would not survive the operation to implant the tube. According to his living will, he doesn’t want one anyway. About a year after my mother’s death from HD in February 2006, he gave up on life and started a downward spiral into dementia and immobility.

The bad news reminded me of the difficult decision he, my sister, and I made to decline a feeding tube for my mother and let her die under the care of hospice workers.

The past week I have felt as if I were drowning, unable to come up for air in a whirlpool of emotions sucking me down into my own eventual hell with Huntington’s disease. I tested positive ten years ago this summer and am now at the age where the onset of symptoms is typical.

I am angry and frustrated, because without HD life would be so different for me, my wife, and our nine-year-old daughter.

I know that I can’t blame all my difficulties on HD, but it has indubitably taken a massive toll on our ability to lead a normal life, with moments of calm.

Life is moving so fast, and with HD to worry about, it seems to race ahead even faster.

Fantasies of a better life

What would our lives be like without HD?

Like the phrase “imagining a world without Huntington’s,” which I put on the website that I manage for the San Diego chapter of the Huntington’s Disease Society of America, I spent a part of the last few days fantasizing about my family’s life in the absence of HD.

It seemed to be the only way to escape the overwhelming sadness.

My mother, who would be 71 years old today and on track to live close to 90 like her mother, is my father’s stalwart companion, keeping him active, optimistic, and loved as he heads for his mid-80s.

They travel together frequently. On their 50th anniversary in 2008, they realized a lifelong dream of visiting Europe. My dad took her to many of the places he saw as a young soldier in the 1950s, and they visited his father’s birthplace in Eastern Europe.

Gathering around the pool

Today they are gathered around our brand new swimming pool. My dad never learned to swim and was always afraid of the water, but we are going to coax him to try out the spa. He thoroughly enjoys shooting video of his granddaughter splashing in the pool.

My mom smiles beautifully as she plays with her granddaughter in the water. She was the swimmer in the family and took me to my first swimming lessons at the neighborhood pool. Grandma has taught her granddaughter how to sew, and tomorrow the two of them will join my wife to shop for maternity clothes at a local mall.

Yes, we finally decided to have that second child that my wife wanted for so long. Grandma and Grandpa are beaming with pride and already making plans for driving cross-country again just after the birth to help us out for a few months as they reside in our guest room.

They wanted us to have kids so badly, and now they can’t get enough of our daughter.

While the women are shopping, my dad and I will head for the driving range and knock around a few balls, just as we did when he first taught me how to swing a club in the backyard, making me the first kid golfer in the neighborhood.

I am barbecuing burgers the same way my parents used to on their gas grill during the humid Midwestern summers. We reminisce about how we used to top them with tomatoes just picked from my dad’s beloved garden.

Words of appreciation

After dinner we are going to look at family pictures and tell stories to our daughter, who is now so curious about her grandparents’ past.

While my wife puts her to bed, I am going to chat in the living room with them.

Tonight I especially want to tell them how much I appreciate what they did for me, raising me, tolerating me in my bad moments, helping put me through college. Only after becoming a parent myself did I come to have a true understanding of their importance and sacrifice.

It feels great to connect with them. Their lives are complete as the cycle of life continues. We even joke about their good chances of becoming great-grandparents….

It’s like one of those good dreams that seem so real, so inspiring, so perfect – but, for us, impossible.

Thursday, August 20, 2009

Pondering an exit from the HD closet

Huntington’s disease forces gene-positive people like me to live many paradoxes. One of the most difficult involves the challenge of going public with my status, a challenge far more difficult than those faced by people with cancer, AIDS, and other devastating but more common and better-understood diseases.

To help end this deadly brain disorder, HD people and their families must come out of the closet to act as public advocates and participate in research experiments. But doing so carries the enormous risk of discrimination and profound misunderstanding at work, with insurance companies, and even within extended families such as my own, as I revealed last year.

Ever since I discovered in late 1995 that my mother had HD, I have hidden the fact from all but a handful of trusted friends and relatives. I have mainly feared discrimination at work and the potential loss of opportunities for a better job, as I have described in previous entries (click here to read more). Even though HD and other diseases are considered disabilities, the reality is that employers can often find a legal pretext for dismissing an individual expected to decline someday.

In my field, which involves writing and other demanding intellectual tasks, few people would want to risk hiring someone who tested positive for a brain disorder and had a 100-percent chance of developing it.

And once gene-positive status emerged, it could spread rapidly via the Internet.

Family concerns

I am also wary of exposing my family to the many challenges of living with a husband and father on his way out of the HD closet. My nine-year-old daughter knows her grandmother died of HD, but we have not yet told her about my status nor that she tested negative in the womb.

Recently I discussed with my wife how to continue this blog in the likely event that my symptoms prevented me from writing. I suggested that she and my daughter could post videos of me – to show the onset of symptoms and my struggle to overcome them – but she adamantly opposed the idea as an invasion of family privacy. She understandably sees the immediate burden on her and our daughter as outweighing the potential good for the cause.

I have frequently mulled over the process of coming out but have always pulled back. This has been a long struggle, and a very difficult one. It was especially painful to hide the real cause of my mother’s death from people at work or individuals who were curious but whom I did not trust.

She died of HD in 2006. I told these people that she died of respiratory difficulties. Most accepted this without questioning. One person, perhaps a bit of a busybody, wanted to know more details. When I refused to elaborate, he became testy. I felt annoyed and angry at this person, but also because of the need to brush him off.

Since then, nobody has touched on the subject. I know, however, that if I had revealed HD as the cause, people would have felt shocked. And many would sooner or later have learned that HD was a genetic condition with dangerous implications for me and my family.

A sheath of anonymity

I’m not the kind of person to seek sympathy, but at the time of my mother’s death I certainly needed it. I received support from readers of this blog and others who know about the existence of HD in my family. But by downplaying the death of my mother to those who didn’t know about HD, I denied myself access to the reservoir of human solidarity that people need in a time of grief, in this case multiplied by the devastation of HD and the threat to my own well-being.

I have hidden a crucial dimension of my life, and, as a result, feel distant from friends and co-workers. Sometimes I even get angry at them for not knowing, for not sharing the burden with me. It’s the human tendency to blame others for misfortune. This tangle of feelings makes it difficult for me to be myself.

My self-imposed sheath of anonymity inevitably involves an aspect of denial. By not revealing my status to others I feel safe, and I can avoid all of the painful feelings associated with explaining to people HD, its impact on my family, and the seemingly inevitable course ahead.

HD is not like cancer or AIDS or heart disease, where the mention of a single sentence or even just a word telegraphs a wealth of information. It is not only a little-known, orphan disease. It is a devastating, multi-symptom disease that requires a detailed explanation of its medical aspects and an even more detailed discussion of its social implications such as genetic testing and discrimination.

Trying to tell a friend

When I turned down a wonderful job offer two years ago because of the threat of HD to my family, I decided to start coming out of the closet gradually and carefully. I became involved in stem-cell advocacy here in California, and I started revealing to more people my gene-positive status and my authorship of this blog. During a recent visit to CHDI Management, Inc., which seeks treatments and a cure for HD, I was introduced as a gene-positive person to strangers for the very first time.

The other night I wanted to experiment yet further with coming out. I went to a coffee shop to chat with a friend I have known since 1987. A few years ago he went through a painful divorce, and now he faces financial troubles. He needed a shoulder to lean on and somebody to brainstorm with about his future.

In the days before our meeting, I built up the resolve to tell him about my struggle with HD. I too wanted to lean on someone who knew me long enough to be able to sympathize and even discuss with me a strategy for coming out locally, since we have so many common acquaintances.

I kept wondering, “How can I bring up a huge new problem out of the blue, one that I have hidden from him for more than a decade, especially when he’s going through a crisis of his own?”

We hadn’t seen each other in about a year, so it was a warm and heartfelt evening for both of us. I gave him some tips on landing some work, and I told him about some of my difficulties at work and even about the big job I turned down a couple of years ago.

A couple of times, when the conversation briefly paused, I thought of seizing on the moment.

Emotional paralysis

But I couldn’t. All I could do was make vague references to “other factors I’ll tell you about sometime” or “something I won’t get into now.” I’ve become so good at hiding my worries about HD that he had no inkling of the anxiety I was feeling.

I didn’t want HD to ruin our evening. And I felt very guilty about burdening my friend at a time when he’s struggling to pay the rent and buy groceries.

And I couldn’t find a way to talk about such a devastating situation when I currently do not have the overt symptoms of Huntington’s disease. I kept feeling that it would all seem so abstract and hypothetical in comparison to his predicament.

I felt this even though I knew that my situation is one of life and death.

But it is a death that would come very slowly, like my mother’s 20-year struggle with HD.

I felt emotionally paralyzed. It was easier to keep on my protective sheath.

No ritual for discussing HD

My terrible hesitation stemmed in part from the lack of a societal ritual for coming out about two conditions: the results of a genetic test and at-risk status for a neurological disorder. People are used to hearing about patients suffering from heart disease, cancer, or AIDS. Actress Farrah Fawcett shared her demise from cancer with the country by appearing in a reality TV show. Just a few days ago Secretary of State Hillary Clinton stood shoulder-to-shoulder with AIDS patients at a clinic in South Africa and helped once again to give the victims of that disease a public voice. People with AIDS were once enormously stigmatized.

But in the new era of the Human Genome Project and the burgeoning of neurological disorders such as Alzheimer’s, few people have yet to pioneer the act of coming out with HD and other similar conditions. Former First Lady Nancy Reagan came out with her husband’s Alzheimer’s, and actor Michael J. Fox went public about his battle against Parkinson’s. But these are exceptional cases.

For HD the situation is even worse, because its symptoms are more devastating. And since the death of Woody Guthrie in 1967, no famous American has come out with HD. Public understanding and our collective consciousness about these conditions are still at the level of a hush.

Over the years many television programs have portrayed people at risk for HD. In the current program House one female character wrestles with the decision to get tested and then struggles with being gene-positive.

This may signal that HD is moving closer to the mainstream, but TV is not reality. Real at-risk and gene-positive people don’t go public. Many hide their status just as I do. Many, many more won’t even get tested.

It could take years – if not decades – to change this situation.

Confiding in others

Around 11:30 p.m., my friend and I decided to say good-bye. Our friendship was renewed. We both had a sense that the conversation wasn’t over, and we agreed to meet again soon.

My friend, who is a highly capable and proud man, had confided a lot in me by sharing personal difficulties.

I believe that next time it’ll be easier to raise the subject of HD.

The time has also come for me to confide in others. I’ve already begun that process through this blog and my eleven years as an activist for the Huntington’s Disease Society of America. Now I’ll be taking my activism to a new level by personally speaking to more people about HD.

There are no guarantees of assistance or even sympathy. Indeed, coming out could backfire and bring serious consequences.

But each experience of coming out can only strengthen my courage and prepare me for the next one.

At the very least I will be increasing one by one the number of people who know about the challenge of Huntington’s disease. It’s time for the stigma about HD to end, enabling gene-positive people like me to speak openly and without fear.

Sunday, August 02, 2009

Ten years after the test

Life goes in cycles, and so do our memories. Lately I’ve been thinking a lot about the tenth anniversary of when I tested positive for the genetic cause of Huntington’s disease.

Yesterday I felt the urgent need to write about what’s happened since that day in June 1999 when I learned the terrible news. Two days ago, on July 31, I received a private comment on my blog from a mother who just revealed her HD status to her nine-year-old daughter.

The girl, who has been watching her grandmother succumb to HD, asked if she too would fall ill. Her mom replied, “I don’t know.” Usually children are not tested for HD, so the daughter won’t be able to know her own status until she turns 18. The daughter also wanted to know if her mother would die. “I hope not any time soon,” she replied.

The mother’s cognitive symptoms – which are causing depression and affecting her temper – have already begun. This reminded me of another friend, in her forties, who had to quit her job and stop driving because of early HD symptoms.

This year I turn 50. By that age my mother, who died of HD in 2006 at the age of 68, was having the odd mood swings that frequently signal the full onset of the disease.

But I have yet to suffer its overt symptoms.

A crash in the dark

A deep sadness gripped me upon reading the mother's comments and exchanging e-mail messages with her. I told her that my own daughter – who is also nine – had tested negative for HD in the womb. The time is fast approaching when she will start to learn about my status. In January 2000 my wife and I broke into tears of joy when we learned she was negative. We will need to explain all of this to her and reassure her that she will not get HD like her grandmother.

Lately all of this is on my mind.

From time to time I lose my balance and have fallen to the ground on several occasions.

During the early morning hours of yesterday, after getting up to go to the bathroom, I suddenly became disoriented and couldn’t find my way back to bed. I seemed to have blacked out or gone sleep-walking.

I usually put my hand on the wall to guide me in the dark, but this time I could not find it. I instead hit the mirror of the sliding door of a long closet and went flailing and crashing down to floor, knocking a picture off another wall, hitting a night stand with my arm, and breaking the frame of another picture.

Luckily, except for a scraped arm, I am okay. My wife, who had fallen asleep in another room watching TV, awoke thinking that a burglar had entered the home.

Could I, too, be experiencing the first overt symptoms? My mother fell a lot during her battle with HD, especially in the last few years of her life. Once she broke a wrist. Another time she needed staples to close a head wound. In the final months she was confined to a wheelchair.

Or am I just getting older and need to install a night light in the bedroom?

Or – as I think most likely – was my bedroom accident a psychological response to the woman’s plight and the future discussions I will have with my daughter?

Avoiding onset

I cannot foretell tomorrow. But, despite this incident, my current lack of overt symptoms might indicate that the genetic defect is affecting me differently than it did my mother. Maybe, I fervently hope, my onset will occur much later.

I count every day of good health as a blessing and an opportunity.

I have the same degree of mutation in my gene as my mother, and it is the degree that generally determines the age of onset. That’s why HD strikes people ranging in age from young children to the elderly, with the most common age of onset ranging from 35 to 55.

Thus, according to standard research on HD, I am likely to develop symptoms soon.

But other factors, as yet undiscovered, could affect onset. Scientists believe that a so-called modifier gene, or genes, could influence the way the defective gene huntingtin operates. Researchers have been searching for the modifier for several years. If discovered, a modifier could become another predictor of age of onset, with a genetic test similar to the one I underwent.

Different levels of preparation

My mother was the first known person with HD in our family. It came as a complete surprise, and she therefore had no way to prepare for it. I was almost 36 when I received the news of her illness and have tried to care for my health conscientiously. A good diet, regular exercise, avoidance of stress, and psychotherapy all became part of my medical kit against Huntington’s. I have also participated frequently in the local Huntington’s disease support group, a major source of comfort and solidarity for our community.

I take the Huntington’s Disease Drug Works-recommended cocktail of supplements (the sugar trehalose, coenzyme Q-10, omega-3 fish oil pills, blueberry concentrate, and creatine). Scientists are examining these substances as possible treatments to alleviate symptoms or stave them off.

Anecdotal evidence suggests that HD people with poor habits such as heavy drinking get sick earlier. Some in the HD community have also commented that traumas such as car accidents and operations can cause onset or lead patients into a sudden, deep decline. In late 2007 and early 2008 I faced a decision about an operation. I had an extremely painful anal fissure and, wanting to avoid the possible trauma of surgery, first tried another treatment for a couple of months before finally opting for the operation (click here to read more).

A positive attitude

I believe that a positive attitude has also kept me stable. Since 1998 I have worked as a volunteer activist for the Huntington’s Disease Society of America, and for almost five years I have blogged on living at risk.

My wife has given her love and unconditional support. Although she does not yet know my status, my daughter is aware of HD and my activism. My devotion to them helps me keep a healthy balance among work, activism, and family life, and their love provides an incalculable emotional boost.

This blog is a catharsis that helps keep me focused and sane. I’m producing a record of my struggle with HD and the larger movement to care for HD families and find treatments and a cure. I can vent my feelings and share them with a wider community.

I am also very fortunate that a journalist friend – who inspired me to start this blog – reads every entry, assists with editing, and, most important, helps to deepen and clarify my message. I have come to depend on his selfless dedication. Familiar with the disease long before I ever heard of it, he has become my Huntington’s alter ego.

Knowing that he and others are reading about my thoughts and feelings provides another enormous boost to my morale.

I stay informed about potential treatments, sign up for experiments (click here to read more), and strive to understand the many scientific discoveries about the disease. One old pharmacist friend from the local support group – who became symptomatic only in her early 60s and who still remains lucid – is convinced that understanding the disease is a factor in delaying onset.

My life’s calling

My dedication to the campaign against Huntington’s connects me to the “big picture” of the human struggle for a better life for all. I am exercising leadership in ways I never imagined. To speak out at support group, to respond to an e-mail from someone in distress about Huntington’s, to help jump-start stem-cell advocacy in California, to report on the scientists who are working hard on treatments – all of these kinds of activities bring me deep satisfaction.

I feel that I have found my life’s calling. If I follow in my mother’s footsteps and become disabled by HD, I will have fought to the best of my ability to care for myself and to make others aware of the urgent need to end HD's devastation.

Yesterday morning, upon remembering my crash in the night, I wanted to forget HD. But when I thought of the HD-stricken mother and her daughter – and then my own daughter – I knew that I needed to write down my feelings and prepare for another day in the fight. Whatever the reason for my current lack of overt symptoms, I have the opportunity to play a part in the historic effort to eliminate one of the world’s cruelest diseases.