Huntington's disease and the perils of adoption

Because Huntington’s disease is inherited, its sudden appearance can send family relationships into a state of shock.

Many HD families can trace the disease back over generations, but in some, like mine, it appears unexpectedly.

Adoption of gene-carrying children generates another kind of surprise for both the unknowing adoptive parents and the adoptee.

The story of four HD-stricken daughters born to Dianne M. Travers, who died of HD in 2010, reveals the almost surreal perils of adoption when HD is involved. Their story also highlights how genetic testing, increasingly common in the biotechnological era, can open up unexpected and disturbing doors.

Figuring out a puzzle

The story of these women came to light because one of the sisters, an adopted child who is today the 47-year-old Lisa Davenport Boudreau, in March 2012 discovered the identity of her birth mother after an 18-year search.

An Army combat veteran, Lisa commenced her search at the age of 30 in 1995 after retiring from the service on disability resulting from post-traumatic stress disorder.

Lisa Boudreau during Army days (personal photo)

“It was like a puzzle, putting a little piece together at a time,” Lisa told me in a series of recent interviews from her home in Wilmington, NC. She and her sisters were willing to share their both exhilarating and painful story in an effort to raise consciousness about both the tragedy of HD and the challenges of adoption.

Lisa’s adoptive parents had told her that they raised her in a closed adoption, which withholds the identity of the birth parents. Knowing her parents would be reluctant to help, Lisa at first proceeded on her own, without knowing the name of the agency that had handled her adoption.

Acting like an investigative reporter, she sought her roots by compiling a list of women who’d gotten pregnant around the time of her birth in 1965 in Fargo, ND. She also looked for Fargo babies born that year and poured over census reports and microfiche of area newspapers, hoping somehow to find a scrap of news about her entrance into the world.

In 2007, with her four children from two previous marriages old enough to allow her more free time, Lisa devoted herself to the task full time. She first contracted a private investigative firm specializing in assistance to adoptees. Despite paying a $2,000 fee, she got no results.

Lisa was finally able to obtain from her adoptive mother the name of the agency that had handled her case, Catholic Charities of North Dakota, to which Lisa paid $500 in fees for a document certifying her nationality and birth weight and for the agency to begin a search for her birth mother. This crucial step allowed Lisa to intensify her search.

As Lisa explained, since the 1960s adoption laws have changed to make it easier for adopted children to find their biological parents. “A lot of adoptees want answers,” she said.

However, Catholic Charities delayed in obtaining results, Lisa said.

“I had to have someone put a fire under (their social worker), because in three years they did absolutely nothing,” she explained. “And then, all of a sudden, when I told them I would sue them, in a month they found my mother. I really think Catholic Charities is using the adoption industry to make money.”

Catholic Charities told her Lisa that she had no siblings. To this day, she has still not obtained a copy of her birth certificate, which remains sealed in an archive in Fargo.

An identity – and a disease

“Towards the last year of looking for mom, there was something in my gut,” Lisa recalled. “For the last three months, I didn’t sleep two hours a night. I knew something was wrong. I could feel her pain, even though I never met her.”

Finally, on February 27, 2012, Lisa received a call from a social worker at Catholic Charities who had been able to track down her birth mother.

What came next was not just the joyful revelation of her biological mother’s identity, but also the shocking news that would instantly transform the lives of Lisa, her husband Bob, her children, and the relatives she had yet to discover.

Lisa learned from the social worker that her mother Dianne had recently spent seven years in a nursing home and had died of a disease of which she had never heard: Huntington’s.

“After the call, I got on my laptop,” Lisa remembered. “I pulled it up online and read it to my husband and said, ‘what is this?!’ It was very shocking. Then I had to tell my kids. It was very emotional.”

Searching for roots

In piecing together her and her mother’s past, Lisa would learn that Dianne, a Native American, had gotten pregnant with her at the age of 16. Later in life, Dianne became an alcoholic and a bit of a drifter, spending time in California, Utah, and North Dakota. When HD killed Dianne in November 2010, she was 62.

Dianne Travers (family photo)

“I missed her by one year,” Lisa said regretfully of her quest to meet her mother.

Lisa would also discover the identity of her birth father, Byron Johnson, an artist and architect of Norwegian descent. He had died at the age of 52 in 1993 after falling off a roof in a work accident.

Yet Lisa’s burning desire to know about her mother’s life only grew. She tracked down Dianne’s second husband, 96-year-old Jim Travers, who recalled that his wife had had a daughter. Lisa discovered both a birth certificate and a death certificate for this woman, Sabrina Del Rio, her half-sister, deceased at the age of 31 in 2003.

Querying the nursing home where Dianne had spent her last years, Lisa learned that a California woman named Donna Scott had handled her mother’s funeral arrangements.

Lisa set out to call every Donna Scott in California phone directories. She said she made about 3,000 calls.

“I was searching for someone who knew my mother and might be able to tell me about her,” Lisa explained.

Lisa also wondered if she might have more siblings.

On March 5, 2012, a Donna Scott in Los Angeles received a message from Lisa. Donna phoned her sister Lisa Hein in Alpine, near San Diego, to discuss the mysterious caller who claimed she might be a sister.

Opening up ‘a rattlesnake’s nest’

Despite her suspicions, Lisa B. was no less shocked by what ensued.

Returning the phone call for herself and Donna, Lisa Hein revealed that Dianne Travers was their mother. Both she and Donna were Lisa Boudreau’s half-sisters. Their father was Dianne’s first husband.

“I’m 47, jumping up and down on my bed, when I got the call from Lisa!” Lisa B. said. “My husband looked at me like I was kooky.”

Lisa B. spoke to each sister in separate calls. It did not take long for them to broach the subject of HD. The two California sisters recalled their mother’s struggle with HD. They also explained why their sister Sabrina had died so young: she had juvenile HD.

Sadly, the two sisters also revealed that they, too, were in the early stages of HD.

“How crazy that her name is Lisa!” Lisa H. told me. “We talked for hours that night, till 4 in the morning California time.”

Lisa H., a nurse, spoke enthusiastically about the joy of connection moment but also felt “a giant pit in my stomach” because of the “rattlesnake’s nest” of Huntington’s that she and Donna presented to their sister.

“It was bittersweet,” recalled Donna, who that same day had left her job as an insurance underwriter because of her disability resulting from HD. “We spoke for almost five hours that night. I have the message (from Lisa B.) saved. I will never get rid of it. She said, ‘I think we’re sisters.’

“We found her on adoption sites and Facebook sites. We said, ‘holy cow, she looks like our mother!’ You never know what a person is reaching out for.”

Donna Scott (left), Lisa Boudreau, and Lisa Hein (family photo)

In May, Lisa B. visited her sisters in California. In July, Donna spent two weeks with Lisa B. in North Carolina.

“When we met, it was incredible,” said Lisa B. “We looked at each other and touched each other and poked at each other. Back at the house we took our shoes off and looked at toes and fingers. We all had the same kind of birthmark on our leg. They both were upset at me because I have no wrinkles, and they have more wrinkles than I, and I’m older. They were upset that I had no gray hair, and they did.”

Their mother’s story

Lisa B. was finally learning about the mother and the family she had always wondered about.

Donna, Lisa H., and Sabrina were raised by their father Salvador Del Rio, who divorced Dianne and remarried. Whereas Lisa B. had spent her life up to March 2012 without knowledge of her sisters, Lisa H. and Donna had known since they were children that somewhere they had another sister, beyond Sabrina.

But nobody yet knew that Dianne’s father had died of HD, nor that she, too, was at risk for the disease.

Donna, who spent her summers as a teenager with Dianne and Jim Travers in Utah, talked with her mother about the daughter she put up for adoption. Later, in the late 1980s, when Dianne entered a rehab facility for alcoholics, she wrote a mini-autobiography as part of her therapy.

Reading her mother’s writing, Lisa H. understood that “it destroyed her and broke her heart” to give up Lisa B.

Lisa H. was excited about getting to know her mother better and reconnecting with her lost sister. In the hopes of finding the adoptee, she planned to have Catholic Charities send a letter to Lisa B.

Dianne, too, seemed ready for a new life. Around 1988 or 1989, she finished rehab in Utah. She took a plane to San Diego, with a connection in Las Vegas.

But at the Las Vegas airport, Dianne started to drink. She missed her connection and never made it to California.

Crestfallen, Lisa H. didn’t mail the letter that might have reached Lisa B. She didn’t want her to know that her mother was an alcoholic.

Although Donna had earlier enjoyed spending the summers with her mother, she said that Dianne became “a very mean alcoholic.” In the early 1990s, Donna cut herself off from her mother to protect herself, her son, and her husband.

Dianne was diagnosed with HD in the late 1990s. In Donna’s thinking, the alcoholism could have been both a cause and effect of the HD.

Sabrina’s short life

As Dianne exited her daughters’ lives in the 1990s, and with the family still unaware of HD, Donna and Lisa H. became increasingly worried about their younger sister Sabrina’s health and behavior.

“Looking back now, we see that Sabrina had the symptoms during juvenile years,” Donna said. “She was a dork and klutz in high school. We would call her ‘clumsy.’ She spoke with a slur. But in fact it was the HD. She started acting differently.”

In her 20s, Sabrina frequently forgot to pay her bills, and she neglected to deposit checks. Her car was repossessed for failure to make loan payments.

Lisa H., who has a substantial background in neurological research,  paid special attention to Sabrina’s symptoms.

When Sabrina could no longer function normally, Lisa H. and her husband Andrew tried to discover the cause of her difficulties.

Sabrina Del Rio (family photo)

“She came to visit us one day in San Diego,” said Lisa H. “It was late 1998. She had had ten accidents and totaled like three cars in the two years before that. I would call her house and the line was dead. Sabrina said the was power out in her neighborhood.”

In fact, Sabrina’s phone had been disconnected for failure to pay her bill.

“She was walking staggering in front of us. Andrew said, ‘There’s something so wrong with her.’” Lisa. H said. “I sat there and watched her walk: ‘Oh my gosh, she has a brain tumor!’

“I had just gotten married, and Sabrina got sick six months later,” Lisa H. continued. “She was sleeping on our couch and trying to figure out what was wrong with her. She had severe depression and anxiety. She had trouble at work.”

Sabrina left her job in Los Angeles to move in with the couple. In 1999, Sabrina tested positive for the HD gene. She was in her mid-20s.

“Lisa, nobody’s ever going to marry me like this,” Sabrina told her sister as she cried after receiving her test results. According to Lisa H., it was the only time she shed tears about her condition.

“I looked at my husband and said, ‘I’m going to have to take care of her. She’s my child. I release you. Go and get married,’” Lisa H. said. “And he said, ‘Nope, we’re going to do this together.’”

Within six months Sabrina was in a wheelchair. A year and half later, she became bed-ridden.

“Andrew and I did it 24/7,” Lisa H. recalled. “We staggered ourselves to take care of her.

“She never complained. She always had a smile and was thankful. She handled it all very graciously. A lot of times people get bad tempers and are grumpy. She stayed her sweet self. She was very grateful. She went into the wheelchair, and said, ‘Oh, what a pretty wheelchair.’”

Sabrina died in 2003, just 31.

Struggling with symptoms

Today the three remaining sisters struggle with the early symptoms of HD.

Donna has battled the depression and anxiety caused by HD. Sometimes she goes more than a day without sleep.

“I’m a very, very patient person,” said Donna, who is 46 and whose adult son is at risk for HD. “For that to change in my character, it blows me away. That’s not me. I’m not one to fight.

 “I’m living moment by moment right. I honestly don’t look into the long-term future, because I know it’s not there for me.”

Donna Scott (personal photo)

Like Donna, Lisa H. had to leave her job, where she was “triple- and quadruple-checking” herself to avoid making mistakes.

“I feel like I have a lot of difficulties with memory and organization,” said Lisa H., who is 43 and the mother of two adopted boys, whom she devotedly shuttles back and forth to school and baseball and football practices. “Everything seems like it takes me so long. I can’t even remember my nursing school graduation.

“It’s funny how your desire to have kids is so strong and crazy. Now that they’re here it makes me sadder and makes the disease harder because I wonder what I’ve done to them. We’re so happy but I don’t want them to have to see me like my sister was and spend their lives caring for me. I said to Andrew, ‘We can do this, but I want your focus to be them and not me.’ I was 100 percent fine having me go someplace when it starts to affect the kids.”

A passion for helping others

Lisa B. decided to test for HD. She felt compelled to help her four children map out their lives regarding the disease and family planning. In May 2012, her results came back positive.

“I was getting on the plane to California, with my paperwork,” Lisa B. said. “I didn’t tell my husband the results. The first people I told were my two sisters. I handed them my results after we had lunch. Back home, I told my husband. We cried and cried. I didn’t know about HD, but my sisters watched it happen. If I had found out younger, I wouldn’t have been able to handle it so well.”

Lisa believes she has experienced early symptoms such as depression, but also thinks her perceived behavioral issues could result from the post-traumatic stress disorder and gunshot wound to the head she suffered while in the Army.

“I’ve survived so much with the military,” she commented. “I’m not going to let this bring me down. It’s your attitude.”

Lisa Boudreau (personal photo)

Lisa B. has fought back by becoming an HD advocate. On January 7, she led the very first meeting of the Wilmington-area HD support group that she founded.

Another of her passions is to help reform adoption laws so that adoptees have greater access to information about birth families and are informed of potential health risks.

 “A felon has more rights to their documentation than I have as an adoptee,” Lisa B. observed.

Finding her family has brought her “inner peace,” she added. “It’s a very powerful feeling to finally feel that you’re part of something.”

However, she also recognizes that this knowledge is a two-edged sword.

“I love the family I’ve found, but now I have to carry the burden of knowing about Huntington’s and helping people understand how to handle this information,” Lisa B. explained. “I also did find my 84 year old grandmother who was married to the grandfather who had it, who passed it on to my mom.”

Thus Lisa B. is attempting to track down the many newfound aunts, uncles, cousins, and other relatives who are at risk for inheriting the HD gene.

“My grandfather had 15 more kids, the granddad who died of HD,” Lisa B. continued. “Four of my birth family uncles were incarcerated. I’m in the process of making a list and contacting these people. My aunt tells me, ‘You came back and stirred the pot.’ You have to have a tough skin when you take approaches like this.”

Any day now, Lisa B. expects to receive a package sent by her grandmother containing a painting Byron did of Dianne pregnant.

“Something that both my father and my mother touched would be incredible for me, for someone who never had my mother or saw my mother or touched her,” Lisa B. said. “If someone offered me a million dollars for that picture, I would say no.”

Throughout her quest, Lisa has had to juggle her desires with her relationship with her adoptive mother, Meredith Davenport. (Her adoptive father, Ed Meredith, died in the late 1990s.)

Meredith Davenport (left) and Lisa Boudreau (family photo)

“She wasn’t too on board with me looking,” Lisa B. said. “And I didn’t want to step on her toes. I waited until our relationship was strong enough. I wanted to look, but it affected so many people. It’s very hard mixing all these people together.”

Lisa kept Meredith “in the loop” throughout her search, she said. Meredith became upset when she learned of her daughter’s risk for Huntington’s disease, she added.

Above all, Lisa B. worries about her own children, all in their late teens or early twenties. They now face their own decisions about testing for HD.

“I told them, “You need to have this information,’” Lisa B. said of their newly revealed at-risk status. “‘Knowledge is power. You have the information I didn’t have when I was adopted.’ It’s a very personal decision. They need to make it on their own what they want to do with the knowledge they have.”

From a paralyzed genius, lessons of determination and caregiving for the Huntington’s community

In my fight to avoid the onset of Huntington’s disease, I have sought inspiration in model lifestyles, outlooks, and individuals.

One of my heroes is Stephen Hawking, the theoretical physicist who pioneered the science of black holes, Hawking radiation, the origins of the universe, and the quest for a “theory of everything,” an explanation of the ultimate forces and laws that govern the universe.

Hawking achieved all of this while surviving five decades with ALS, amyotrophic lateral sclerosis, known in the U.S. as Lou Gehrig’s disease and in Hawking’s native England as motor neuron disease. As is well known, ALS has completely paralyzed Hawking’s voluntary muscles, relegating him to existence in a motorized wheelchair with an on-board computer through which he speaks.

Hawking at the White House with President Barack Obama in 2009 (photo from www.hawking.org.uk)

When doctors diagnosed Hawking with ALS in his early 20s, they gave him two years to live. However, through sheer determination and with the support of his devoted wives and numerous friends and nurses, Hawking not only survived but achieved remarkable accomplishments. On January 8 he celebrated his 70th birthday.

Like millions around the globe, I am awed by Hawking’s brilliance, moved by his triumph over ALS, and cheered by his good humor and kindness.

I have just finished Stephen Hawking: An Unfettered Mind, a new biography by Kitty Ferguson.

It richly details Hawking’s extensive achievements in physics and his views of the origins of the universe, including the question of God. Reading about Hawking and his ideas, I feel the enormousness of the universe and, as he does with ALS, put the disease that claimed my mother, and that I face, in a healthy perspective.

An Unfettered Mind also portrays Hawking’s struggles with ALS, his utter dependence on caregivers for survival, and his and his first wife Jane’s fight to improve life for the disabled.

For HD activists, I believe that Hawking’s life offers valuable lessons to help strengthen our resolve to fight and demand better care for HD patients.

The ravages of ALS

Whereas HD is a fully genetic disease, only about ten percent of ALS cases are inherited. Researchers do not know the cause of the other 90 percent.

Like HD, ALS is debilitating and deadly. As Ferguson points out, ALS causes disintegration of the nerve cells in the spine and brain that regulate voluntary muscle activity. The muscles controlled by these nerve cells atrophy. Eventually every voluntary muscle in the body becomes compromised, making movement of any kind impossible. After diagnosis, most ALS patients live only a few years, dying from pneumonia or suffocation.

Patients experience no pain, and, unlike with HD, remain lucid to the very end. As Ferguson explains, patients in the final stage are prescribed morphine for panic and depression.

Hawking’s symptoms began as clumsiness during his third year as an undergraduate at the University of Oxford. Upon starting graduate studies at the University of Cambridge, he had difficulty tying his shoes, and his speech started becoming slurred.

Hawking experienced frequent fits of choking. In the summer of 1966 his fingers started to curl; writing by hand became almost impossible. A few years later he started using crutches. It took him 15 minutes just to climb the stairs at home. By 1971 he needed a wheelchair.

By the time Hawking became Cambridge’s Lucasian Professor of Mathematics – a chair also held by Isaac Newton – he “could no longer walk, write, feed himself, or raise his head if it tipped forward,” Ferguson writes of his condition in 1979. “His speech was slurred and almost unintelligible except to those few who knew him best.”

Hawking had several brushes with death. One occurred during a 1985 trip to Switzerland, where he became so ill that the doctors put him into an induced coma and on a life-support system. In order to save his life, Jane decided to have him undergo a tracheotomy, which was performed in Cambridge.

Hawking could no longer speak and could only communicate by spelling out words letter by letter; a helper would point to the letters on cards held out for him to see and select with a nod. Also, Hawking now needed 24-hour care from nurses.

Ferguson recounts how a computer expert in California enabled Hawking to communicate more rapidly by giving him a program the man had invented called “Equalizer.” It allowed Hawking to select words from a computer screen, and it also had a voice synthesizer – the famous Hawking voice known around the world. A student made Hawking a mouse-like tool that allowed him to operate the computer by squeezing a switch with his hand.

Because ALS continues to destroy his muscles, today Hawking can no longer use the mouse-like device. He now operates the computer by twitching a cheek muscle and thus activating a low-power infrared beam that prompts the computer.

“It is, of course, nothing short of miraculous that Hawking has been able to achieve everything he has, even that he’s still alive,” Ferguson concludes. “However, meeting him and encountering his intelligence and humor, you find yourself taking his unusual mode of communication and his obviously catastrophic physical problems no more seriously than he seems to himself. That is the way he wants it. He chooses ‘not to think about my condition, or regret the things it prevents me from doing, which are not that many.’ He expects others to adopt the same attitude.”

Although ALS has destroyed his body, Hawking plans to make further contributions to science. In a documentary produced several years ago, he declared through his voice synthesizer: “Hello. My name is Stephen Hawking: physicist, cosmologist and something of a dreamer. Although I cannot move, and I have to speak through a computer, in my mind I am free.”

Personal and institutional supports

In Ferguson’s account, Hawking has thrived so long only with the love and support of Jane and his three children with her. (ALS patients can still have sex.) Numerous professional colleagues, friends, the nurses, and other caregivers and assistants also provided Hawking with crucial support.

In the early years of the marriage, Jane cared for Hawking and coordinated the fulfillment of his needs. An intellectual in her own right, she postponed her graduate studies in literature, and she usually kept in the background as Hawking acquired accolades and fame. Ferguson reflects on how Jane chose this life path at a time when the feminist movement influenced many women to strike out independently of their husbands.

Hawking’s disease and success, as well as the presence of large number of caregivers in the home, made his marriage to Jane far from conventional. Although Ferguson does not discuss the Hawkings’ sex life during the period that they conceived their children, she does explore their ever more unusual and complex emotional and familial relationship as they lost physical intimacy. Both had affairs, and Hawking later married one of his caregivers, Elaine Mason. They divorced in 2006 amidst rumors of abuse by Elaine. At the time, Hawking refused to comment on the divorce. Ferguson indicates that no abuse took place. “The bottom line was ‘He loves Elaine,’” she concludes.

HD families also develop in highly complex ways. In addition to the debilitating symptoms, stigma, denial, and anger can lead both patients and caregivers to act aggressively, sometimes resulting in divorce or the splitting of extended families in disagreement about how to confront the disease.

However, I want to emphasize Jane’s decades-long support of her husband, and also how the family, friends, and colleagues rallied around Hawking in his battle against ALS.

The nursing staff played an especially important part. As Ferguson describes, the nurses made Hawking look nice by brushing his hair, polishing his glasses, and wiping his chin of the saliva that ran out of his mouth. They also spoon-fed him. Most importantly, they regularly cleared his throat with a “mini-vacuum cleaner” so that secretions did not build up in his lungs.

Institutional support was also crucial for both Hawking’s survival and scientific success. The British National Health Service would not pay for his 24-hour care, which the family naturally could not afford. The MacArthur Foundation, which funds academic research and other projects, came to the rescue with a grant to pay for the home care.

Ferguson points out that without such care Hawking would likely have languished in a nursing home.

Hawking’s fame and success have brought him almost endless privileges. Since 2000, he has flown frequently by private jet (paid for by others). In difficult situations, people and governments have made special accommodations for his disability.

Most disabled people can only dream of such special treatment.

The Hawkings’ advocacy

Nobody begrudged Hawking these wonderful advantages.

Recognizing the need to improve the plight of all disabled people, the Hawkings successfully pushed for greater institutional access for wheelchairs – a major struggle in the 1970s that is now often forgotten. “The Hawking image encouraged universities to set up dormitories equipped for students needing round-the-clock nurses in order to attend classes,” Ferguson writes.

Hawking firmly advocated that disabled children always be grouped with normal children of the same age.

Yearning for freedom for HD people

As Hawking’s mind remains free, I am fighting to keep my own mind free, along with thousands upon thousands of HD patients and gene-positive individuals.

In contemplating Hawking’s life, I fantasized about how wonderful it would have been for my mother to have had a device that allowed her to communicate with us from behind the horrible, impenetrable mask of Huntington’s disease.

At 52, I have reached my mother’s age of onset: each day I worry that Huntington’s will cut short my career as a college professor and writer and leave me unable to love and support my family as my daughter approaches adolescence and prepares to enter an expensive private school next fall.

Sadly for most HD people, Huntington’s destroys the area of the brain responsible for speech, thought, and memory.

Redoubling efforts for better care

The first effective treatments could arrive within the next five to ten years, but until then the HD community must focus on providing for – and demanding an improvement in – care for our stricken loved ones.

This will require us to redouble our efforts to change the nation’s outdated Social Security rules for HD people (click here to read more); provide Medicaid assistance without forcing couples to divorce and impoverish the sick individual to make him or her eligible; implement better standards of care as widely as possible; demand assistance for families caring for HD people in the home; and insist on better nursing home care. The lack of competent nursing home care remains one of the most intractable problems faced by HD families.

For now, this is our best hope for prolonging the lives of our loved ones and making their final years and months as comfortable as possible.

Perhaps HD people cannot have the advantages of a 24-hour team of expert nurses. But Hawking’s privileges point to a horizon of healthiness that humanity should aspire to for all disabled and ill people.

HD people have as much right as Hawking or anybody else to fair, decent, and up-to-date care.

In this fight, we can take a cue from Hawking.

“It is no use complaining about the public’s attitude about the disabled,” he declared at a speech at the University of Southern California in 1990. “It is up to disabled people to change people’s awareness in the same way that blacks and women have changed public perceptions.”

Striving for brave new brains

As I turned 52 on December 31 and a new year dawned on the world, I came ever closer to onset of Huntington’s disease, the cruel killer that took my mother’s life in 2006 at the age of just 68.

However, in 2012 I also will live with the hope that, as science and medicine progress with time, researchers will control and perhaps even eradicate HD.

Indeed, we stand on the verge of a new age. Neuroscience, brain scans, our understanding of genetics, and brain-machine interfaces will vastly improve the health and capabilities of the brain and perhaps enable the cure of HD, Alzheimer’s, Parkinson’s, Lou Gehrig’s, stroke, and numerous other maladies of the central nervous system.

On Christmas and my birthday I was able to celebrate the results of my annual check-up at the local HD clinic on December 20: the doctor marveled at how, despite carrying the same genetic defect as my mother, I have yet to show any apparent external symptoms of the disease (click here and here to read about my HD-avoidance strategies).

With the predicted biotechnological advances, those of us who are gene-positive may someday put bionic brains on our birthday wish lists – brains without risk of HD and that enhance mental capabilities far beyond anything we can currently imagine. Even sooner, advances in medicine may deliver drugs and techniques that counteract the cruel changes wrought in HD brains.

Breathtaking predictions

I contemplated these possibilities during my holiday reading, which included Judith Horstman’s The Scientific American Brave New Brain: How Neuroscience, Brain-Machine Interfaces, Psychopharmacology, Epigenetics, the Internet, and Our Own Minds Are Stimulating and Enhancing the Future of Mental Power, an exciting, easy-to-read synopsis of recent advances in brain science.

Horstman outlines how brain scientists predict breathtaking breakthroughs by mid-century – most with a firm foot in current reality.

According to scientific forecasters, “computer chips or mini-processors in the brain will expand memory; control symptoms of brain disease, from Parkinson’s disease to depression and anxiety; and wirelessly receive and transmit information so that you won’t need a cell phone or a computer to stay in touch.”

“Brain surgery will be a thing of the past except in the most severe cases,” Horstman continues. “Advanced neuroimaging will identify mental illness and brain disease before symptoms show and in general be used to ‘read’ minds and predict and control behavior. Microscopic robots – nanobots – will enter your bloodstream to diagnose and repair brain damage. Protein molecules will travel your brain in a similar way to turn on or off brain cells or genes responsible for brain diseases.”

Brave New Brain explores numerous other current and potential facets of brain health and related technologies, including:

● neurogenesis (the growth of new brain cells);

● deep brain stimulation and “brain pacemakers” (using electricity to stimulate brain health and performance);

● brain-nurturing mental and physical practices such as meditation, breathing, and yoga;

● the impact of digital technology on the brain and its integration into the brain;

● artificial intelligence;

● miniature cameras for broadcasting images of the inner workings of the brain;

● thought-activated neural implants (for example, for working mechanical limbs);

● prostheses of portions of the brain (people are already living with artificial retinas and cochleas, the auditory portion of the inner ear);

● and, in one forecaster’s view, the downloading of our brains onto chips “so our consciousness can live on forever, perhaps even downloaded into robots – or into an avatar, an ageless biological clone,” perhaps making us an endangered species increasingly replaced by cyborgs.

“Neuroethicists” and others worry that “humans will become machines,” Horstman observes. These individuals also point out new issues involving privacy in genetic testing; ownership of body parts, tissues, and genes; insurance discrimination; potential abuse of new technologies by employers and others; and the impact of all of these changes on social equality and our way of controlling criminals. Neuroethicists are grappling with these many issues.

Curing dementia

According to Horstman, Alzheimer’s, other dementias, and perhaps even mental retardation will be “preventable, curable, and even reversible in many people.”

The demand for cures is immense: some two billion people worldwide suffer from a brain-related illness, with an annual economic cost of more than $2 trillion, Horstman writes. Almost half of all people over age 85 develop dementia, and by 2050 an estimated 100 million individuals will experience this condition.

Offering a glimpse of how these cures could take place, Horstman writes of “brain boggling” nanotechnologies such as “preparing specialized protein molecules that swim to a predetermined site and are activated externally by probes or lasers that turn off or on specific genes.”

This kind of “nanomedicine” would allow medical treatments to leap across the formidable blood-brain barrier, which separates the bloodstream from the fluid that bathes and cushions our brains, Horstman explains.

Alnylam’s HD gene-silencing trial

The trends in neuroscience and related fields mean that scientists someday will likely control HD and perhaps, as Horstman describes, completely turn off the gene that causes it.

Key research in “gene silencing” already holds great promise.

In partnership with Medtronic, in 2012 Alnylam Pharmaceuticals plans to apply to the federal Food and Drug Administration (FDA) to conduct a Phase I clinical trial of a drug containing ALN-HTT, a small interfering RNA molecule (siRNA) that doctors will inject into the brains of trial participants.

Conducting a brain operation, doctors will run thin tubing under the skin from a Medtronic-designed pump to a nodule at the top of the patients’ heads, and from that point a very fine needle will deliver the drug into the putamen, one of the regions of the brain most devastated by HD (click here to read more).

If the Phase I trial demonstrates the safety of ALN-HTT, Alynlam will proceed to Phase II to measure the efficacy of the drug.

Alnylam intends to use ALN-HTT to silence the huntingtin gene so that less huntingtin protein is produced to harm brain cells. If successful, the treatment would save brain cells from dying and slow down and possibly even reverse the course of HD.

A decade ago, this approach seemed like science fiction. Today, it provides immense hope that HD will be controlled in our lifetimes.

On December 28, 2011, Alnylam presented a highly positive report: testing of ALN-HTT in non-human primates demonstrated “widespread distribution of the siRNA and significant silencing of the huntingtin mRNA.” The drug was well tolerated.

Conducted in collaboration with Medtronic and a research team at the University of Kentucky, the study will greatly facilitate the FDA application for a human trial.

Isis Pharmaceuticals, Inc. is developing a similar approach for treating HD and hopes to apply for its own Phase I clinical trial, perhaps within the next year or two (click here to read more).

The pioneering HD community

As Horstman describes, such gene silencing techniques only scratch the surface of the great potential in brain-disease treatments. Indeed, we may someday look back on these initial attempts as primitive.

But they are revolutionary. We in the HD community are helping to pioneer this revolution in brain science by participating in research studies and clinical trials, fighting the terrible stigma associated with the disease, and, as I did last February, exiting the terrible “HD closet” to tell the world about the need to defeat HD and other neurological disorders.

HD families no longer stand alone. Our movement has gone global – with international conferences run by research organizations, numerous HD-related websites, and the establishment of Enroll-HD, a multi-country database of HD-affected, gene-positive, and untested at-risk individuals. Just last month a new HD group formed in China, the world’s most populous country.

We stand on the frontier of science, and for this reason in 2012 and beyond we can forge ahead proudly and bravely.

It’s up to us to lead the way. If we all unite and participate in this great movement, we can help build toward the bionic brains of the future.

Living in limbo

People who’ve tested positive for genetic diseases but still don’t have symptoms find themselves playing a terrible waiting game.

I tested positive for Huntington’s disease in June 1999 at the age of 39. HD usually strikes people in their 30s, 40s, or 50s. My own mother, who died of HD at age 68 in 2006, started showing the psychiatric effects of HD around age 48.

So my symptoms could start any time.

Difficult to predict

With HD, the more severe the genetic defect, the earlier the disease starts. But doctors and scientists cannot predict the exact moment when a person will display symptoms. What makes this fatal brain disease even trickier is its variety and complexity of symptoms. Researchers are finding that the disease affects many functions, from those as subtle as the sense of smell to as basic as the ability to walk.

The disease also causes decline variably in different people. The normal course usually runs 15 to 20 years. But some people live a long time until the worst symptoms kick in, while others become helpless early on.

HD is caused by a single genetic defect, but researchers are searching for so-called modifier genes that might trigger onset. Environmental factors and lifestyle also may affect onset and the severity of the disease.

My own waiting game

So I have played the waiting game for eleven years.

Not long after I was tested, my wife and I noticed that my legs twitched at night as I would fall asleep. We panicked, because the first physical manifestation of my mother’s HD was uncontrollable trembling in her legs while in bed.

A physician with detailed knowledge of HD informed me, however, that many people have nocturnal twitching and that mine was probably not related to HD.

We were relieved, but, because the genetic defect eventually strikes all carriers, we know it’s only a matter of time before something begins to go wrong.

Subtle versus classic symptoms

Over the past decade I’ve noticed a decline in several areas such as short-term memory and reaction time behind the wheel. This could be HD – or simply the aging process. (I turned 50 last year.)

I did well at my last annual check-up with an HD specialist. I am still apparently free of classic HD symptoms.

But I’m also aware that the more subtle symptoms could be at work. And I know that the latest research demonstrates that changes in the HD-affected brain start occurring years before noticeable symptoms arise.

Feeling “cheated”

Recently I’ve been feeling angry about being in this state of limbo.

Don’t get me wrong. I’m very happy to be healthy. When I see other HD-affected people in my age group (40s and 50s), I feel blessed in being able to work, write, travel, and enjoy my family. I’m exercising, eating nutritious food, taking supplements, and keeping an active mind so I can try to stave off the symptoms as long as possible.

I’ll admit that sometimes I experience that little bit of death wish that we all do from time to time. During an HD check-up a couple years ago, I expressed amazement to the doctor that I had no apparent symptoms. “Be thankful,” he said.

In a weird way, I felt cheated. I had been preparing myself all these years for onset, and it didn’t happen!

It’s as if I’m preparing for a great battle, but the battle never comes.

I think what I really wanted was definition in my life about HD. I wanted to know how it would start and when. (I know that’s a narrow focus; onset will bring huge burdens to my wife and daughter.)

Powerful feelings

These visits to the HD doctor always unleash powerful feelings. I see individuals with severe symptoms. I know some of them and have seen them decline over the years.

I feel deeply relieved not to be in their situation.

And I feel sad and guilty watching them struggle with walking, talking, and the other basics of life that HD takes away.

A cruel joke?

Other times my imagination wanders into the territory of conspiracy theory. It goes something like this: the geneticist who gave me my test results made a terrible mistake and mixed up my results with somebody else’s. I am not really gene-positive! That’s why I don’t have symptoms!

A similar version gets paranoid: that geneticist wanted me to suffer and lied about the results!

“It’s a hoax!” I tell myself.

“Is this some kind of cruel joke?” I angrily ask myself. “I’m told I’m going to get a disease, and yet no symptoms have come. I keep wondering about it.”

Wanting to “resign” from HD

A few weeks ago, I daydreamed about writing a “resignation letter” from my volunteer position with the local chapter of the Huntington’s Disease Society of America (HDSA). “I’m tired,” the letter stated.

I felt especially resentful because I had just returned from a very enjoyable 32-day, 8,300-mile cross-country car trip with my family. I didn’t answer any HDSA e-mail during that time, and I put thoughts of the disease and our cause to the back of my mind.

After the vacation, however, the hard reality of HD worked its way back to the forefront. It’s time for my annual check-up, and also for the tenth annual HDSA-San Diego Celebration of Hope Gala, our biggest fundraiser of the year.

Commiserating with Michael Douglas

In late August I watched actor Michael Douglas reveal on national TV that he had stage-four throat cancer. My heart went out to him. But, as he put it with the characteristic Douglas family determination, he had an 80 percent chance of beating the cancer.

“At least there’s a treatment!” I thought. Good for him!

But then I immediately thought how there is a zero percent chance of beating HD – because there is still no treatment and even less a cure.

So, just as I think about HD practically every morning, so must I daily rededicate myself to the fight against it.

Fighting on a new level

Not coincidentally, I’m gradually and very strategically going public about my gene-positive status. In June I gave a speech in Brazil in which I came out to an audience of several hundred people.

Later this month I will make a presentation on my life with HD for a local biotech company, Vertex Pharmaceuticals, which researches the disease. It will be the first time I speak in public about HD to an American audience.

I really do wish HD were just a cruel joke or a bad dream. But as I think of my mom and all of my friends and acquaintances living with the disease or at risk, I know all too well that HD is real.