'Dad, could you get HD?'

On May 17 I came out to my nine-year-old daughter about Huntington’s disease: I revealed that I was gene-positive.

My daughter already knew quite a bit about HD, but this was the first time she came to see how it can affect our family.

In January, after meeting Terry Leach, a 12-year-old boy with juvenile Huntington’s, she asked me whether I could get the disease. I answered truthfully: yes, I could. But I didn’t tell her that I had gotten tested. I wrote on that conversation in a previous entry in this blog.

My wife and I have let the question of HD come up naturally. Our daughter has known about the disease since her toddler years. On visits back to my hometown in the Midwest she spent time with her ill grandmother, who could not speak to or even hold her. When my mother died in February 2006, she attended the funeral with my wife and me.

The truth and painful emotions

On the 17th I picked up my daughter from school. Following our Monday routine, we headed for a local shop to get her favorite smoothie, with mango, papaya juice, and pineapple sherbet.

Normally we head right home so she can do her schoolwork and practice piano. But on this day we needed to stop at a Kinko’s to make an enlarged copy of a school writing project she did with her mother on the book The Landry News by Andrew Clements.

It tells the story of Cara Landry, a fifth-grade girl unhappy because of her parents’ divorce and her teacher’s indifference about the education of his students. Cara learns the value of telling the truth and dealing with painful emotions by publishing a school newspaper. She writes articles about divorce and her teacher’s subpar performance.

My wife and daughter produced their own version of The Landry News with articles about the book and photographs of themselves disguised as the main characters. I did the layout.

“Telling the truth about a disease” also happened to be the title of my above-mentioned blog entry on my daughter and Terry.

Antonio Gates and the Chargers

On the way to Kinko’s we passed by the headquarters of the San Diego Chargers, one of the main benefactors of the San Diego chapter of the Huntington’s Society of America (HDSA-San Diego). My daughter recognized the complex as the place where, in 2008, we attended the children’s version of the Shoot to Cure HD, a free-throw-shooting contest and meet-the-players event to raise money for the chapter.

My daughter got one of the biggest thrills of her young life that day when we had our picture taken with the Shoot honorary chair, Antonio Gates, the Chargers’ star tight end and a former college basketball standout.

As we reminisced about that day, she wanted to know about Gates’ involvement with Huntington’s disease. I explained that he dedicated himself to the HD movement because of the Chargers’ commitment to HDSA. (Unbeknownst to her, a couple weeks earlier I had written about and photographed an HDSA-San Diego press conference on HD Awareness Month attended by Gates.)

She recalled that Bill Johnston, the Chargers’ public relations director, also worked with HDSA. Bill’s wife Ramona has HD, I told her.

Dad could get sick

Although children have excellent memories, their powerful and resilient minds also conveniently block out or reprocess difficult information to protect themselves and those they love. I knew this was happening with my daughter, because she didn’t seem to have any recall of our January conversation about Terry or earlier discussions from her toddler and early childhood years.

So she asked a series of questions about HD. How old was Ramona when she got the disease? How old was Grandma? How does a person get HD?

I explained that HD is genetic: people are born with a problem, but it doesn’t show up until later. Some get it early, like Terry; others, like Grandma, get it as adults.

“Could you get HD?” she asked.

“Yes,” I said as we were exiting the car to enter the copy shop.

For the first time ever I saw my daughter do a double-take.

“Then that means I could get HD?!”

“No, you can’t get HD. Mommy and I had you tested, and you don’t have the genetic problem. I have the genetic problem.”

“So, you MIGHT get HD?” she said with a mixture of emphasis, earnestness, and optimism. She needed badly to protect me somehow and to reassure herself that everything would be okay.

“Yes, I might get sick,” I replied with my own emphasis on possibility, not probability.

I didn’t tell her that everybody with the Huntington’s defect sooner or later develops the disease, although she might be able to draw that conclusion from what I told her about Terry, my mom, and age of onset.

Dealing with the fallout

Back in the car after making our copies, I asked her if she was concerned about HD. Did she want to talk about it? No, she said.

She was already changing the subject to something about her world of play.

For the very first time I had revealed to my daughter that I was gene-positive for Huntington’s disease. In the past I used to say that Grandma had a “boo-boo on her brain.” Now I used the word “genetic” and “problem.”

It was also the very first time that I referred to a “test” for HD. She probably doesn’t yet understand the process of medical testing, but, as a fourth-grader who takes lots of tests, she’s already quite familiar with the general idea.

Later I took my wife aside and explained what had transpired. During dinner shouldn’t we ask our daughter whether she has any questions or concerns? No, my wife said: let her continue to ask the questions on her own.

The rest of the week our daughter got angrier about things than usual. And on Saturday she revealed that she had told a friend at school that I could get sick. That evening my wife and I argued about whether we had made the right choice in not discussing HD at the dinner table.

Information and support

The timing of my revelation to my daughter is crucial, because in 2010 I want to come out about my gene-positive status (click here to read more). As I go public, my daughter will need more information about HD.

She already knows, for instance, that I take the dietary supplement creatine as a preventive measure against HD. (Creatine is recommended by the Huntington’s Disease Drug Works program.) She commented that the store clerks will think that I buy creatine for muscle build-up like everybody else. But we’ll know it’s for HD.

For now my daughter seems to be okay with my revelation. I don’t have any of the classic symptoms of HD, and we’re living our lives as normally as possible. A couple of nights ago she and I played charades in the living room.

But as she learns more about HD and likely sees me fall into its abyss some day, she will need much emotional support.

And I will need it from her, too.

No perfect formula

Nobody can formulate the perfect language for telling a child about a parent’s at-risk status for a disease, especially a cruel and devastating one like Huntington’s.

My wife and I have developed a creative tension between us on this issue. Like the lessons learned by the budding journalist in The Landry News, I believe that telling the truth is the best approach. It makes me angry to remember how my mother’s side of the extended family denied that she had a brain disease and attributed her situation to “mental problems.”

But my wife is right, too: the truth needs to be told in steps. Just as it took time for our daughter to go from “boo-boos” to “genetic problems,” so will it take years – and maybe even a lifetime – for her to fully comprehend what Huntington’s disease means for me and our family.

A perfect day: the sunset of a meaningful life

To live at risk for Huntington’s disease means to partake of a world with frequent news of premature death. Naturally, those of us in the HD community feel a deep need to recognize the significance of those who have passed. For a gene-positive person like me, these deaths bring on especially profound sadness and yearning for meaning.

HD is incurable. It inexorably destroys the brain, in the end leaving its victims completely dependent on others for eating, personal hygiene, and getting about. It generally strikes people in the prime of life, and, in about ten percent of cases, it affects children and teens. Life expectancy after onset is ten to 20 years.

HD also devastates the families who care for their loved ones during the agonizing demise of each HD person. It’s hard to imagine a job description more difficult than that of “HD caregiver.”

Many have an extremely difficult time; some become exhausted and must seek out an institution that can provide specialized care. But many others rise to the occasion, displaying a level of concern and commitment that seem to belong to another world.

They do it all with – and because of – the most powerful force in the universe: love.

Unrelenting fear

My mother died of HD in 2006 at the age of 68. If it weren’t for HD, she would be thriving today at the age of 72. Her mom lived to 87 and was healthy until the final months of her life.

My late father took care of my mother for more than 15 years. He was a Huntington’s disease warrior, like the thousands of other individuals who awake every day to bathe, dress, feed, and assist their stricken companions. Married at 30, he might not have died last September at 81 if he still had my mother as a healthy companion.

Since my mother’s passing, every time I learned of the decline and death of HD people, it pounded unrelentingly upon my conscience like a workman’s steady and certain hammer. Each blow reminded me of Mom – and of my own status, what the scientists call a “premanifest” condition.

Deaths like barbs in the heart

In recent months, the word of deaths and worsening symptoms in other patients has become even more painful, like a staccato of painful barbs in the heart.

Late last year Emily Krull of Orange County, CA, died of complications from juvenile Huntington’s disease and another malady. She was 20. Emily and her parents had worked hard to raise awareness about HD (click here to read more).

On February 16 of this year 13-year-old Karli Mukka died of HD in Michigan.

A couple weeks ago I learned that a boy with juvenile Huntington’s got a feeding tube – often a sign that death is not too far off. In the final months of my mother’s life, my family decided against one for her.

A few days ago Dan Byers, the uncle of HD activist and author Susan Elaine, succumbed to the disease. A resident of the Bay Area in California, he was 67. A graveside memorial service will be held for Dan at 11 a.m. on May 21 at Holy Sepulchre Cemetery, 26320 Mission Boulevard, Hayward, CA.

And, very close to home for me, Steve Topper of San Diego ended his long fight against HD on April 7. He was 66.

Steve and Gayle: laughing a lot

Steve’s death hit me particularly hard. Steve was diagnosed with HD in August 1997 – less than two years after I learned of my mother’s condition. Not long thereafter I met Steve and his wife Gayle Tinnerman at the local HD support group.

Steve, who was divorced from his first wife, had met Gayle at a dance in 1990. Before HD disabled him, he worked as a cogeneration engineer, assisting companies with large demands for electricity to generate their own power. His consulting business took him as far off as Australia, and he also worked close to home on projects such as the one he did with Sea World in San Diego.

Steve on New Year's Eve, 1990 (family photo)

Steve loved sports cars, and he and Gayle were enthusiastic fans of the San Diego Padres and especially the San Diego Chargers.

Steve had three children from his first marriage and also four grandchildren. His daughter tested negative for HD. His elder son has already developed the disease and is on disability. He has two children. Steve’s second son is untested.

Steve and Gayle, my wife, and I were regulars as all of us in the group struggled to cope with the many facets of HD, which involved the affected like Steve, the at-risk like me, and caregivers like Gayle, and the potential caregivers like my wife.

Unlike many HD patients, who seem to withdraw into an inner world that nobody can fathom, Steve was very effusive. Always smiling, in the early years of the disease he wanted to talk to other people and shake their hands.

What also struck me – and what I could not understand for a long time because I couldn’t face HD’s effects on my mom – was Gayle’s complete devotion to Steve. She doted on him, but never became condescending or showed pity.

In fact, Steve and Gayle laughed a lot. Though it may seem unimaginable in the face of such a horrible disease, they brought hope and joy to the support group.

Steve and Gayle (family photo)

The wisdom of a devoted caregiver

In my files, going back to 2002, I have some 20 pages of e-mail exchanges with Gayle regarding Steve’s care, what I might do to avoid onset of the disease, and other information about HD.

Probably Gayle’s most memorable message – one from which I learned great humility, wisdom, and insight – responded to an article that I had written about an HD patient for the newsletter of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego) in April 2003 (click here to read more).

“VERY well written – such a lot of work!” she wrote. “[But] I must take umbrage with the generalization that HD people do not smile or laugh much…. After I read the article, every time Steve laughed or smiled this weekend, it ‘registered’ with me – I make great effort to joke and be silly and have fun with Steve. It’s pretty easy with him ‘cause that’s his general nature. He, also, has many moments of frustration, etc. BUT he enjoys many moments and loves to laugh and be happy.”

Gayle added that she wasn’t interested in a “pity party” for herself. She wanted to care for Steve. Watching the two of them together, I understood that they simply enjoyed each other’s presence.

Reading Gayle’s words, I recognized how I had often avoided engaging with my mother after she could no longer converse. I also began to understand how my deep fears of the disease led me to minimize contact with other HD patients. I began to see the importance of valuing HD people as human beings even as they lost great portions of their adult capacities.

Yes, HD dehumanizes people more than any other disease. But, observing Gayle and Steve, I learned that we must love HD patients just as we did when they were healthy. And we must honor them for their struggle.

Gayle’s determination

Gayle always tried to bring hope for to Steve’s condition. She drove him long distances for doctor’s appointments and tirelessly researched dietary supplements and potential drugs.

In 2002 and 2003, Gayle, who at the time was working for LawInfo.com, arranged for the company to build the first professional website for HDSA-San Diego. LawInfo hosted and maintained our site through April 2009.

In October 2003, Gayle published an article in the chapter newsletter titled “Waiting for a cure: new group says we shouldn’t.” The article presented the argument of Dr. LaVonne Goodman’s Huntington’s Disease Drug Works (HDDW) program. Dr. Goodman advocated a “treatment now” approach involving the use of supplements and non-HD medications that had been lab-tested for safety and possible efficacy in Huntington’s. Gayle and I traveled to an informational meeting held by Dr. Goodman in San José, CA.

Both Steve and I adopted the daily HDDW regimen, as did other patients around the country. I haven’t missed more than a day or two since. Some HD researchers are skeptical of this regimen, but I have already reached 50 with no apparent symptoms. My mom seemed to exhibit the first symptoms around age 48.

Enjoying life

Gayle and Steve knew that HD would cut short their time together. Even though he steadily declined, they enjoyed life as much as they could by traveling, going on outings in San Diego, and eating at restaurants.

Steve and Gayle at Fisherman's Wharf in Monterey, CA, in 1998 (family photo)

This way of facing the disease reminded me of my own parents. They continued to travel every year or so to Las Vegas from our hometown in the Midwest. Even though my mom lost the ability to communicate, she loved to play the slot machines.

Gayle and Steve’s other big pastime – and health strategy – was walking. Walking provides crucial aerobic exercise to supply the brain with oxygen and keep the body fit and limber. Gayle worked with Steve’s physician to find ways to keep him walking as long as possible.

“You should have seen him on our daily walk, which we just finished,” Gayle wrote me in an April 2003 e-mail. “He said during the walk, ‘Am I zooming?’ He was trying to walk faster. I, of course, said he was. He actually was definitely walking ‘faster’ than normal – which was slow for most people, but faster than normal for him.”

Steve undergoes physical therapy with Zuri Pineda in 2004 (photo by Gayle).

Losing mobility

Sadly, however, Steve gradually lost his mobility – one of the most devastating symptoms of HD. Gayle recorded the most terrible moments in the decline: no longer able to dance (December 1999) and then walk (November 1, 2005).

The last time I saw Steve, Gayle pushed him in a wheelchair into a restaurant for a lunch with Dr. Goodman of HDDW. In February of this year he could no longer feed himself.

A peaceful death

On April 19, I called Gayle after receiving an ominous-sounding e-mail. She confirmed my worst expectation, although, knowing the ways of HD, I was not surprised. In early April Steve stopped eating. He knew his time had come. He remained at home.

Gayle, Steve, and a few close friends and relatives kept laughing and joking with Steve until the very end.

At one point they took his wheelchair out of the room and repeated to him that in heaven there would be no wheelchairs.

On April 7 he died peacefully.

The pleasure of Steve’s life

On April 24, Gayle, Dr. Goodman, family, and friends attended a memorial service for Steve near the ocean in the beautiful La Jolla area of San Diego. After the service, they got into kayaks and carried Steve’s cremated remains out to sea.

“Then out for the kayaks – wow!” Gayle wrote me a couple days later. “It was exhilarating and so peaceful once we got past the surf. We banded together and held each other's kayaks, and Steve's brother Joe spilled the ashes out into the sea and Jocie (Steve’s daughter) threw out the 12 pink roses. I will never forget looking back to the beach with the roses floating over the water over the sinking ashes – I was overwhelmed by the finality.”

Gayle, in front of red boat, and Steve's son David, in rear, head out to see with his ashes (family photo).

Gayle prepared a memory book with photos of Steve, family, and friends and commentary about his life. “In Memoriam and Celebration. Stephen William Topper. The pleasure of your presence,” Gayle wrote on the cover.

Near the back, Gayle placed a color photo of a cloudless Pacific sunset taken the evening of Steve’s passing. On the photo Gayle superimposed these words: “It’s such a perfect day – I’m glad I spent it with you.”

Care versus cure: we can progress in both

If you faced a deadly, untreatable disease that would leave you completely dependent on others, where would you want more resources to be invested – in care for you or in research for a cure?

In a nutshell, that’s one of the biggest dilemmas facing the Huntington’s disease community. Because HD attacks the brain and leaves people unable to walk, talk, eat, or perform most of the other basics of a normal life, they frequently require the kind of care that a toddler gets.

But if HD people and their families are to have any kind of hope, the search for effective treatments and a cure remains equally essential. Now, with a robust new research entity and a longstanding advocacy group ready for renewal, there is more opportunity than ever for both care and cure.

A personal stake in the debate

I have personally lived the tensions of care-versus-cure: my mother died of Huntington’s in 2006 after nearly 20 years fighting the disease, and I tested positive for it in 1999.

I wanted my mother to have the best care available. Sadly, however, no specialized resources for HD existed in her county, and my father, although he cared for Mom at home almost until her death, never fully understood the disease.

I also wanted the cure to come as quickly as possible. For years I urged my father to help keep my mother as healthy as possible through exercise, proper diet, and supplements so that she might still benefit from a major breakthrough in the research. And, of course, I myself wanted to avoid the symptoms of HD.

In my own situation I have emphasized cure over care. In 1993, just two years before my mother’s diagnosis, researchers discovered the HD gene. Euphoria about the possibility of a cure followed; the Huntington’s Disease Society of America (HDSA), under the able leadership of Barbara Boyle, stressed research more than ever before.

While many people like me jumped on the research bandwagon, others complained about HDSA’s apparent lack of attention to care. As a result, the organization established a national network of so-called Centers of Excellence for Family Services and Research. Today HDSA has 21 centers in 17 states, including three in both New York and California.

These centers brought care solidly back into the HD equation. They serve as a major resource for HD-affected families.

HDSA at the crossroads

Today HDSA and the HD community stand at a crossroads.

In the mid-2000s a generous anonymous donor who had supported HDSA and also the HD-oriented Hereditary Disease Foundation (HDF) of Los Angeles decided to intensify the search for a cure. Thus began a new initiative, known as CHDI Management, Inc. Unofficially, CHDI stands for “Cure Huntington’s Disease Initiative.” In 2008 alone, CHDI pumped $80 million into drug-discovery efforts.

Although HDSA continues to sponsor important research, CHDI’s leadership in that area has raises questions about HDSA’s ongoing focus. Should HDSA now emphasize care over cure?

The renewed debate comes at a key moment; Louise Vetter, who took the helm of HDSA in March 2009, is taking a fresh look at the organization and the movement it represents.

Louise Vetter at the CHDI conference in Palm Springs, CA, in February (photo by Gene Veritas)

This month of May – Huntington’s Disease Awareness Month – provides an opportunity for our community not only to tell the world about the deadly ravages of HD, but for everybody touched by HD to reflect on his or her personal situation and involvement in the movement.

Crying out for support

At my local support group meeting on April 26, I could see all of these issues crystallizing before my very eyes.

Surprisingly, many people in the HD community know little about CHDI’s efforts. I gave a quick description of its program. People in the support group seemed pleased and impressed to learn that a very substantial private initiative had come to their aid.

I also suggested that CHDI’s concentration on research gave HDSA a big opportunity to emphasize care and family services. I used to be all “cure,” I said, but now I was shifting back towards “care.”

The support group participants appreciated the need for a national entity such as HDSA to guide and organize the HD movement’s activities.

From the passionate debate that ensued at the meeting, it became painfully apparent that many families desperately need help. Some attendees pointed out the woeful lack of Spanish-language materials, websites, and support groups. (In fact, information is needed in many other languages, too.) Speaking through a translator, one woman came to tears as she explained her struggle to obtain assistance for her HD-stricken relatives.

Local needs

Another long-simmering issue came to the forefront: financial support for the local chapters and Centers of Excellence. People understood the need to support the national organization – a common practice in the world of non-profits – but they also want greater assistance for local activities.

I have noticed over the years that our local Center of Excellence at the University of California, San Diego, needs more people and resources in order to reach out more effectively to our local HD community and to perform a myriad of other services. The people there are overworked! They do an excellent job of recruiting people for clinical trials and other research studies. But we also need to remember that nationally a shortage of subjects exists.

For their part, local chapters need advocacy training and additional staff or volunteers to assist with their many activities, including fundraising, website development, and community relations.

Grassroots action

I stressed to the group that we all make up HDSA, and we at the grassroots – the affected, families, caregivers, health workers, chapter board members – must speak out if the organization is to fully grasp our needs.

We also need to get families hidden in the woodwork to participate in clinical trials, support groups, and other vital activities such as fundraising events.


Alleviating suffering

“Care 2Cure” is the phrase indented on the official blue HDSA bracelet (pictured above in the photograph taken by Mike Nowak). This phrase echoes the ongoing debate over care-versus-cure, but also their shared importance in the campaign to alleviate the suffering caused by Huntington’s disease.

As our community plans for the future, it’s time to imagine a renewed HDSA that recaptures the spirit of its original purpose to support HD families and advocate for them in the public arena. We must also recognize the long road of progress traveled in search of the cure.

But none of this will matter if we as individuals and families don’t join the fight and make our voices heard.