Sunday, January 31, 2010

Telling the truth about a disease

Since testing positive for Huntington's disease almost eleven years ago, I have focused intensively on five people.

First, I worried about my mother and tried to do my best to assist her, even though she lived in the Midwest, far from my California home. She died in January 2006. By extension, I also tried to help my father, a Huntington’s disease warrior who cared for her until the end and who died – spent from his years of caretaking – last September.

Each day I have faced the threat of HD, bolstered by my steadfast wife. As I wrote in my previous entry, she chose to stand by me when it might have been much easier to leave and start a new life with another man.

Of course, I have also focused on myself in a daily struggle to stay healthy and emotionally stable. In 1998 I became an activist for the Huntington’s Disease Society of America (HDSA), and for the past five years I have detailed my life by writing this blog.

Enter the “miracle baby”

Now my nine-year-old daughter approaches center stage in this Huntington’s dilemma.

Unbeknownst to her, she became involved at the moment we conceived her in October 1999. As I have chronicled various times here, I had gotten tested in June 1999 because my wife and I wanted to start a family and eliminate the possibility of having a child with HD.

Only in late January 2000 did we receive a phone call from our geneticist informing us that our child had tested negative in the womb. If she had not, we would have seriously considered the wrenching choice of an abortion – taking place, by necessity, after the first trimester because of the time it took for the lab test to be performed.

We hugged each other and cried the day we learned of the negative test result. It was one of the happiest days of our lives. We called our daughter our “miracle baby.”

Processing difficult information

Over the years we have mainly not sheltered our daughter from HD, as we believe that in the long run living with the truth is the best way to lead a life and face its many challenges.

We hate the ignorance and exaggerated denial we have observed in other members of our extended family. My mother’s brother and his wife never told their children about HD until my mother died, referring to her instead as a “mental” case. My sister never really wanted to discuss HD with me; her three sons grew up without understanding the genetic implications of the disease. No one in their family has been tested.

Our daughter knew from about the age of two that her grandmother was ill. We would tell her that “Grandma has a boo-boo on her brain.” She understood very early on that “Grandma was born with the boo-boo.” The concept of a genetic disease had been planted.

One time, she said to me as we were cleaning her up in the bathroom: “My daddy is not going to get sick, because he does not have a boo-boo on his brain. And I won’t get sick either.”

My daughter remembers the time she spent with her ill grandmother during a couple of short trips back to my hometown. Since my mother died, my daughter has come up with a different interpretation. As she understood the genetic nature of disease more clearly, she concluded that I perhaps could inherit it and she too.

I let it go at that, not wanting to worry her too deeply about me or herself. I wanted to give her the chance to process her observations on her own.

From Santa to reality

It reminds me of how I responded to our daughter's questions last spring about Santa Claus. As I was driving her in the car one day, she told me that a boy at her school of the same age had learned from his parents that they, not Santa, brought Christmas gifts.

“I want you to tell me the truth,” she said. “Is that true?”

“You want the truth?” I asked, to be sure.

“Yes,” she replied.

“Joshua is right,” I said. “Mommies and daddies buy the gifts. Santa Claus is for small children, and you’re not a small child anymore. Do you ever see a teenager or an adult sitting on Santa’s lap at the mall? No. People give each other gifts to celebrate Christmas. Santa is only for small children.”

I was afraid that she might cry or be scandalized. I thought of going into a big spiel about growing up and learning new things. But I held my tongue. To my surprise, she didn’t seem the least bit hurt. She quickly went on to another topic.

A natural approach

Interestingly, while understanding that my wife and I would be buying her gifts, this past Christmas our daughter still insisted on writing and posting a letter to Santa. I told her that I mailed it.

My wife and I agreed that she is in a transitional phase – really wanting to grow up and assert herself, but also wanting to hang on to the happiest aspects of childhood. As parents, we quickly came to understand the importance of a child's capacity to both process information logically but also maintain comforting fantasies.

So my wife and I also do not force the issue of HD on our daughter. We have let the subject come up naturally.

We’ve taken the same approach with respect to sex. We’ve shown her a book on girls’ health that discusses, for instance, the menstrual period, feminine pads, and tampons. At the right moment we’ll show her another book that specifically discusses sex.

We know that the discussion of my gene-positive status, sex, and genetics will probably all come together within a short period of time.

The moment is fast approaching, because, as she becomes more exposed to my HDSA activism, she will start to ask more questions.

Meeting a boy with HD

A big moment for her came on January 22, two days before my wife ran the Carlsbad Half Marathon to raise money for HDSA-San Diego. That night the marathon organizers held a special pre-race reception for the “Heroes of the Marathon,” individuals recognized for overcoming major challenges.

One of the heroes was Terry Leach, the 12-year-old boy with juvenile Huntington’s disease about whom I had written in December.

For the first time, I had invoked Huntington's disease as a lesson about life; I had used Terry’s story to show her how some people struggle against the worst of odds. A couple of days later she asked to see the pictures I took of Terry, and she read one of my articles on him.

I had told her that we would be meeting Terry and that his family would be at the “Heroes” reception. At first she wanted to go, but in the hours leading up the event she changed her mind. My wife believed that she was afraid to meet someone with a disease that she somehow suspected could affect me.

I wanted the encounter with Terry to be another learning moment for my daughter. After I explained to her the importance of honoring the heroes for their accomplishments, she did not protest any further.

I could tell that Terry was happy to see the people visiting him at his family’s table, because when I bent down to say hello and hug him, he gave me a kiss on the face. A bit later I brought my wife and daughter over.

My daughter briefly greeted Terry. Because Terry can’t speak, they couldn’t converse. My daughter can be quite shy at times, so she slipped into her observational mode and quietly took in the situation. I took a couple pictures of her standing between Terry and his mother Angela.

It was the first time she had met someone with HD besides my mother.

Calling an audible

Afterwards, as we drove home, we talked about Terry. She wanted to know if Terry got to see his father. I explained that he, too, had HD and lived in another state.

“Does his dad visit him?” she wanted to know. I explained that he was like her grandmother and could no longer travel.

The next question was perfectly logical. But it still stunned me.

“Can you get Huntington’s?” she asked me.

It was a question that I was probably expecting for a long time. I hadn’t specifically prepared for it as one might for an examination or a meeting, but I made many mental notes over the years about how to discuss HD with my daughter. I had also played many scenarios through my mind.

I obviously wanted to avoid the denial and ignorance I had witnessed in my own family. Rather, I had positive examples of how other families had raised their children with full knowledge of HD. These families clearly appeared to deal best with the topic. Rather than try to escape, they confronted reality directly, no matter how dire the circumstances.

In 2008 I watched a presentation at the local HD support group by Bonnie Hennig, a licensed clinical social worker specializing in Huntington’s disease and children. She wrote a booklet titled Talking to Kids About Huntington’s Disease: A Book for People Who Know Children with HD in their Family. I found myself agreeing with her assertion that families should discuss the disease, but always in terms that children can understand.

Yet I still had to think very carefully before responding to my daughter. My mind had to quickly compute all of the possible answers I might give and the effect they might have one her. I felt like a quarterback calling an audible at the line of scrimmage in a football game.

Could I get HD? After a brief pause, I said, “Yes, I can.”

She still did not know that I was gene-positive – that her own dad also had a “boo-boo on his brain.” But the question and response were solemn enough that she must have felt the import of what I had said. This was the first time that I had revealed the possibility to her.

She did not ask any more questions about me. And I did not volunteer any more information. As I discussed later with my wife, the flood of information about HD that night had been plenty.

Growing up strong

On Sunday, January 24, the three of us arose at 5:30 a.m. to get ready for the half marathon. I drove my family and another mother and daughter to Carlsbad. The girls saw their two moms get in position for the race, and later the three of us watched them cross the finish line.

This time my daughter wanted to see Terry again. We didn’t see him anywhere near the start or finish lines. My wife then informed us that Terry and his family were at mile No. 3 cheering on the HDSA runners. Our daughter wanted to go there to see Terry, but we explained that we were not allowed to visit the race course because we would interfere with other runners.

I think she took a big leap forward that weekend. She saw her mother compete in a half marathon to raise money for a cause. She met a boy not much older than she who had HD. And she began to understand that HD threatens our family.

Wanting to see Terry again was a good sign. She was no longer so afraid. Nobody knows what the future holds. But, when HD begins to exact its toll on me, I think my daughter will be strong.

As best we can, my wife and I are trying to provide her with good examples of strength and honesty.

Sunday, January 24, 2010

When the pain brings a smile

Today I write in tribute to my wife and to the tens of thousands of other individuals around the world who face the prospect of seeing a spouse or other family member struck with Huntington’s disease.

You see, only hours ago my wife – with just a few months of training and still recovering from a painfully strained back – ran a half marathon to raise money for the San Diego chapter of the Huntington’s Disease Society of America. Just a few weeks shy of her 43rd birthday, she had never before run in a race. In fact, she hadn’t even really run at all.

Living gene-positive for Huntington’s, I spend a lot of time worrying about my health and wondering about the impact on my family when my symptoms start. Huntington’s affects everybody with a positive test for the genetic defect.

Doing whatever is necessary

But only now am I really beginning to appreciate how much my wife stands behind me.

She made it through the 13.1-mile Carlsbad Half Marathon without reinjuring her back, but she pulled a calf muscle. I had to help her sidle back to the car and, as I write, I can hear her limping down the hallway.

My wife in her HDSA-San Diego t-shirt at the Carlsbad Half Marathon (Gene Veritas photo)

A few minutes ago she came in to my home office to give me a hug and a kiss. I congratulated her once again on the race.

“I want you to know that I’ll do whatever is necessary to stop you from getting HD,” she said.

A life of hard knocks

Things could have been far different.

It was just three years into our marriage, in late 1995, when my wife learned that I was at risk for Huntington’s. That’s when we received the news that my mother had HD and I had a 50-50 chance of inheriting the condition (click here to read more).

Suddenly our future seemed dim. Starting a family became an extremely complicated affair, with me first testing positive for HD in 1999 and then, less than a year later, having to wait several agonizing months to learn whether the baby she was carrying also had HD.

In 1995 my wife could have taken the easy route and left me.

After all, she had already made an enormous transition in her life by moving from South America to marry me. Here some people shunned her because of her immigrant status, but she overcame that barrier and others to achieve what few immigrants in her field of teaching have attained: whereas many immigrants are pigeonholed to work with non-native English speakers, she obtained a job teaching American-born students in an all-English classroom.

A good deal of her ability to persevere comes from growing up in a country where most people lived in poverty. Forced on hard times and with no welfare system or food stamps to back them up, during her teen years she and her family often ate a diet of only rice, beans, and vegetables.

On January 18, Martin Luther King Day, we celebrated the removal of the braces she wore the past two years to straighten teeth gone crooked in youth. At the time, her family could not afford even basic dental care.

Standing by her husband

So, you see, my wife has known very hard times. And then Huntington’s disease threatened to plunge her into yet another dark period. The thought of me becoming symptomatic eats away at the tranquility that she fought so hard to construct.

In my nearly 15 years of experience with the HD community, I have heard many stories of divorce (click here to read the painful story of how one relationship ended). In 1995 my wife was just 28 and could have started a family with another person. She could have gone back to her native land. She could have utterly avoided the potential nightmare of Huntington’s disease.

But she stood by me.

Before our daughter was born, each month we attended the local Huntington’s support group. We both had a difficult time watching HD patients struggle with chorea (shaking of the limbs), cognitive impairment, and other problems such as the inability to speak. Usually the second part of the meeting consisted of small group discussions for caregivers, the affected, and the at-risk. Hearing spouses speak of the daunting, daily task of HD caregiving struck fear in my wife’s heart.

Regaining strength

We would often leave those meetings depressed and hopeless.

Worst of all for my wife was watching my mother’s symptoms progress. For me, seeing my mother was like looking into a genetic mirror, my own future with HD. When my wife looked at her, she could not escape the likelihood that her husband would succumb to the same terrible conditions.

She knows all too well what the caregiving could become, after seeing my father, a Huntington’s disease warrior, care for my mother for 15 years.

Yet somehow we regained our emotional strength after support group meetings and after extended visits from my parents, who lived in another state. Looking back on it, I see that my wife’s dedication and companionship provided the positive energy necessary for both of us to keep going.

From dreams to reality

Last month we celebrated our 17th anniversary, and our daughter is now nine-and-a-half.

Along the way, the threat of HD has forced us to give up many of dreams, such as purchasing a home in her homeland, moving away for better (but perhaps less secure) job opportunities, and having more children. Our daughter tested negative in the womb, but my wife has felt the deepest of frustrations at not having another child.

Turning 50 last month, I have already surpassed the age at which my mother’s behavioral and psychiatric symptoms probably started. She died four years ago this month, at age 68. Knowing that HD could be imminent, we focus on keeping me healthy, raising our daughter, and enjoying life.

Accomplishments and pride

For many years my wife did not attend support group or any HDSA functions. Rather, I attend support group or work on a myriad of HDSA-San Diego activities, while she cares for our daughter and handles many of the household tasks, all in addition to her own full-time job.

Now that our daughter has become less dependent on us, my wife has stepped up her involvement with the HD movement. Last fall she hosted a Board Appreciation Night for HDSA-San Diego at our home. Board member Sally Cravens, who regularly runs in HDSA-San Diego events and has brought in thousands of dollars in donations, inspired her to run in today’s Carlsbad event.

It was literally painful for my wife to prepare for and run the race. But she’s not complaining. On the contrary, she has smiled and had a wonderful glow on her face all afternoon and evening. As she put it, “I can put up with the pain.” What’s most important is supporting the cause.

She’s accomplished a lot – completing the race and raising funds and awareness for HDSA.

And she’s made me one very moved and proud husband.

Thursday, January 14, 2010

Squeezing in the life

Because I am gene-positive for Huntington’s disease, I know my time could be extremely limited. As a result, I’m squeezing as much as I can into my life before the symptoms start.

This feeling especially impacts me during the holidays. For me the end of the year brings celebration, but also reflection, in large part because my birthday falls on December 31.

This time I turned 50, so I became especially contemplative.

Ups and downs of 2009

I had much to be thankful for. During 2009 I achieved great progress as an activist for the San Diego chapter of the Huntington’s Disease Society of America (HDSA). Among many other activities, I inaugurated a new website, reported on the project at Isis Pharmaceuticals, Inc., to stop HD in its genetic tracks, and completed my fifth year of writing in this blog.

And I remained free of overt symptoms.

When I tested positive for HD in June 1999, I thought that by 50 I would surely have developed the disease in the same way as my mother, whose psychiatric symptoms probably began in her late forties.

I cannot predict tomorrow. But it felt especially good knowing that I had beat HD in 2009.

This month marks the tenth anniversary of the news that our daughter had tested negative for HD in the womb. Our “miracle baby” is now nine and a half. Knowing that she is HD-free and can develop to the fullest of her potential once again brought a great sense of relief. Even though HD might strike me down, a part of me will live on in her.

But 2009 also brought enormous stress and sadness. My father, the Huntington’s disease warrior who cared for my mother for 15 years, declined rapidly and died on September 25.

By December, 2009 became one of those years that I just wanted to end.

A Huntington’s manifesto

The last few weeks of the year I delved into writing a long article I’ve titled “God, Huntington’s disease, and the meaning of life,” which I hope to post here in the near future and perhaps publish in a magazine or journal. The article, which I have dedicated to the physicians and scientists seeking treatments and a cure for HD, represents the culmination of several years of reading and reflection in an attempt to make sense of the extraordinary predicament faced by gene-positive and HD-affected individuals.

As I wrote, I oscillated between almost unbearable anxiety about the likelihood of a shortened life and almost manic exhilaration about finally having discovered a way to fit my gene-positive status and HDSA activism into the big picture of life, science, and history.

Like so much in my HD-ready life, I felt a deep urgency to finish the article. Indeed, as my wife and daughter made the final preparations for our annual combination birthday/New Year’s Eve celebration, I sat at the computer frantically tapping out the final paragraphs of the piece.

Finishing the article just before I turned 50 was profoundly symbolic. I described it as a “manifesto of faith and HD.” It was like a rite of passage that I needed to complete before entering a new stage of life.

Although I often feel that I have already lived life with the greatest intensity possible, turning 50 and producing that manifesto have galvanized me to seek a new, higher, and even more intense stage of activism, writing, and living life.

A new urgency

So 2010 started with a new burst of activity and a new urgency about squeezing in as much life as possible into the symptom-free time I have left.

I began by sharing my manifesto with several people and initiating an intense conversation with them about how to share it with the HD community. One doctor friend already wrote back with helpful comments on New Year’s Day.

On January 4, I started an extra, temporary job to earn money for a planned cross-country family road trip this summer. I have good memories about such trips with my parents when I was a child. I want to bond with my wife and daughter by exploring with them the beauty and fascinating history of our country.

The trip will be especially poignant for me, because I often wonder whether my gene-positive status will prevent me from seeing my daughter graduate from college and start her own career and family.

Meeting a renowned activist

On January 7, I came out about my real identity to one of the leaders of the HD movement over the past several decades, Alice Wexler, the author of Mapping Fate: A Memoir of Family, Risk, and Genetic Research and The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, which I reviewed in 2008.

I have long admired Alice, as well as her sister and renowned scientist Nancy, who helped discover the HD gene. After their mother developed HD in the 1960s, their father, the late psychoanalyst Milton Wexler, founded the Hereditary Disease Foundation, a leader in the search for treatments and a cure.

Now I was sitting across from Alice and telling her about how my family learned about my mother’s illness and my subsequent struggles with living at risk.

Should I go public? If so, when and how? What impact could I have in the HD community and beyond with my activism and writing? How had my gene-positive status enriched my life? How had genetic discrimination impacted our lives and the lives of other at-risk people we knew?

A special bond

For two-and-a-half hours we discussed these questions, as well as my manifesto on faith and HD, which she agreed to read.

It was a singular moment for me. Alice has spent most of her adult life living at risk and researching and writing about the social aspects of Huntington’s disease. I felt privileged to meet someone so important in the HD community. I also felt that she had instantly become a new friend – even a sister – in arms against HD. Few people could understand me in the way that Alice could.

Bonding in this way means a lot, because my own biological sister has lived in deep denial about HD and disowned me and my family.

As Alice and I said goodbye, we hugged for a long time.

Leaving the plateau

On January 12 the HDSA-San Diego board held its first meeting of the year. There, too, I felt a sense of urgency.

For several years now our chapter has been a leader in fundraising, advocacy, and other areas. But at the meeting people seemed to be saying that we were standing on a plateau still looking at the mountainous challenge of stopping HD and assisting affected families. For the first time we began to challenge ourselves to start moving off that plateau and up the mountain.

I left feeling the meeting feeling once again the enormous burden of HD on my shoulders – a burden that I carry for myself, for my family, and, along with so many other activitists, for the entire HD community.

In 2010, I thought, I will need to become better on all fronts: more efficient at my two jobs – my “real” job and my HD work; more dedicated to eating, sleeping, and exercising properly; and more thoughtful, focused, and loving with my family. At the same time, I will have to become better at relaxing and enjoying the moment.

That’s a lot to squeeze into life. I just need to make sure that I don’t squeeze too hard.