‘No Marine deserted on the battlefield’: two surviving spouses join forces to speed the defeat of Huntington’s disease

After the deadly, untreatable Huntington’s disease claimed their spouses, Jonathan Monkemeyer and Jane Mervar – once strangers, now close – decided to devote their lives to finding ways to speed the search for effective remedies and making the case for the importance of juvenile HD (JHD) in the process.

Without at first knowing the cause of his wife Sheryl’s strange illness, Jonathan quit his job in the early 2000s to become her full-time caregiver until she died from HD in 2009 at 46.

“It’s the thing you have to do,” Jonathan, an accomplished electrical engineer, said in a recent phone interview from his home in suburban Philadelphia. “You really don’t have a choice in our country. We did a lot of nice things, which was good. We did peaceful things like traveling to local gardens. She spent a lot of time with our son.”

Sheryl died at home. “I didn’t expect her to die,” Jonathan said. “I thought we would get the cure in time. The doctor said she had five years. But she fell and got hurt. She couldn’t sit. I had to hold her. Her weight went from 109 pounds to 89 pounds within four weeks. She died of a heart attack, which is like starving to death.”

Caring for Sheryl depleted the family’s life savings, Jonathan added. “I’m heating with wood right now,” he said. “I’m not using heating oil.”

The couple’s son Jonathan, now 14, has a 50-50 chance of having inherited the HD gene from his mother. (Usually only adults can decide whether to be tested for the gene, and most choose not to do so. Children can be tested if they already show symptoms.)

A parallel story

Halfway across the country in the village of L’Anse in the Upper Peninsula of Michigan, Jane faced her own difficult odyssey to decipher the disease afflicting her family. She lost not only her 49-year-old husband Karl, but also her 13-year-old daughter Karli Mukka to HD, both in early 2010. (Jane gave her daughters her maiden name.)

“Karl was a wonderful, ambitious, intelligent man,” Jane said at the start of an exhausting and emotional four-hour interview. “He had very strong family values. He could always make me laugh.”

However, she recounted, gradually “he started to change. Nobody could explain to me what was going on.”

Karl Mervar and daughter Karli Mukka, both victims of HD (family photo)

Like many HD patients, Karl became angry and aggressive, threatening his family with violence.

“Karl held us hostage with his guns,” Jane said, recalling the dangers she, Karli, and her three other daughters faced as Karl’s behavior became increasingly irrational. “There were a lot of scary, scary times. We had a safe room in the house. We’d go in the room and push the bed up against the door. The girls knew this routine. Then I would try to play with him or try to distract him.

“The darn thing is, I knew we were everything left in the world that meant anything to him.”

JHD ravaged Karli’s body, displacing the organs in her chest cavity and forcing her spine to the far side. Because of the disease’s uncontrollable movements, Karli had chewed off half of her tongue by the time she died, Jane said.

A nurse suggested that Jane give Karli morphine and “let her go.” She declined the advice.

“It was a hard spot to be in,” Jane said. “I talked to Karli and asked her if she was ready to go on baby Jesus’s lap. She said no. She died of natural causes.”

Today Jane just gets by financially, thanks to Social Security benefits, as she cares full-time for her two other daughters with Karl, 22-year-old Erica Mukka and 20-year-old Jacey Mukka. Like Karli, both have JHD. Karisa Mukka, a 26-year-old daughter from a previous relationship, lives nearby.

Partners in love and advocacy

In June 2010, still in mourning for their lost loved ones, Facebook friends Jonathan and Jane struck up a lively conversation while sitting next to each other at the 25^th convention of the Huntington’s Disease Society of America (HDSA) in Raleigh, NC. After the convention, they spoke daily for at least a couple of hours. Jonathan visited L’Anse, and shortly thereafter Jane and Jacey stayed nine days with the Monkemeyers.

Their friendship led Jonathan and Jane into a romantic, long-distance relationship.

“They’re an incredible family,” Jonathan said of Jane and her daughters. “Their value system is not about themselves.”

“I was in a pretty low place,” Jane recalled. “I had lots of grief after Karli and Karl died. I wanted a reprieve from caregiving – just wanted to be dead. I’d be laughing after I finished talking to Jonathan. I think he saved me.”

Their relationship and support for each other’s families also became a partnership in advocacy for HD patients.

Bridging the gaps

To achieve their goals, Jonathan and Jane are politely but firmly challenging bureaucratic inertia.

Supporting himself and his son with his son’s Social Security survivor benefits, Jonathan dedicates himself full-time to HD advocacy. He has developed a deep understanding of HD science. By his account, he has so far skimmed through more than 10,000 scientific articles related to the disease.

Applying an engineering approach to the problem of developing treatments, Jonathan developed a website, HDCircle.org, currently offline, on which he has posted information about HD researchers from around the world, links to HD organizations, and reviews of potential HD treatments. He plans to reactivate the site soon.

He also created a Facebook discussion page, Hereditary Disease Circle, with the goal of finding connections between HD and other neurological conditions such as Parkinson’s disease, multiple sclerosis, posttraumatic stress disorder, and amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease.

In addition, he attends relevant meetings and conferences in order to network with people from other disease communities. He seeks to bring their best results and ideas to bear on HD research.

As Jonathan explained, he aims to create “synergies” and “bridge the gaps” among HD researchers and the various key organizations such as HDSA, the Hereditary Disease Foundation (HDF), the CHDI FoundationInc., the multi-million-dollar, non-profit virtual biotech formed solely to seek HD treatments, and the National Institutes of Health (NIH).

As one example, Jonathan said he has spoken personally with NIH Director Dr. Francis Collins, one of the pioneers in the search for the HD gene in the 1980s and 1990s, more than a dozen times, including last week in Washington, D.C.

NIH Director Francis Collins (left) and Jonathan Monkemeyer (personal photo)

“Essentially, engineers design things hierarchically,” Jonathan explained. “I created a website, which is a blueprint for how the system works.

“We’re the only disease without a gene therapy. There have been 1,000 gene therapy clinical trials. But we as a community don’t seem to be organized enough. There’s something in our organizational structure. By their very nature of having a job description, when you’re within an organization, your function is to be in the organization. Everybody gets stuck in a silo of what they’re doing. With so many scientists and stakeholders in the field of HD research, moving forward gets stymied by committee and the sense of urgency gets tuned out.”

If he held a position within one of the organizations, “I’d have a boss to report to,” Jonathan continued. “As an outsider, without a job, and asking questions as an advocate, it gives you the position to help steer people in the right direction towards what needs to be done. I have the greatest freedom, not being employed in an organization. I can talk to anybody I want to.”

Sometimes Jonathan feels as if he’s “walking on egg shells, because I’m not a researcher,” he said. “You tell people very nicely and very artfully. We don’t tear down institutions. We build them up.”

He summed up his approach as “doing what needs to be done to drive innovation that will bring a therapeutic to our community.”

What might work

Significantly, Jonathan’s efforts include canvassing the research community for the latest discoveries and techniques that could translate into therapies for HD. He seeks to brainstorm about new developments, as well as previous ones, in his conversations with scientists.

Rather than simply await for the multi-million-dollar pharmaceutical efforts to bring results, advocates must actively participate in the search for treatments, perhaps even trying drugs and substances approved for other purposes in their own off-label studies, seeking advice from researchers on dosing, and having people reporting their observations via a website, Jonathan suggested.

He cited the example of Hannah’s Hope Fund (HHF), whose advocates teamed with researchers in a low-cost effort to develop gene therapy for a rare genetic condition known as giant axonal neuropathy. HHF has met with the federal Food and Drug Administration (FDA) and, if a safety study goes as planned, could start a clinical trial this year.

In the drug-discovery system in America, the profit motive “stymies innovation and responsibility” towards the patients, Jonathan observed. Rather than producing strong leaders like a Jonas Salk, who developed the vaccine for polio, the system today fosters a climate of “let’s make everybody happy.”

Jonathan also pointed to the new partnership between the NIH and the Milken Institute/Faster Cures, which seeks to increase collaboration among the government, foundations, universities, and the pharmaceutical industry in order to cure more diseases and do it faster. This initiative includes the creation of a new NIH program, the National Center for AdvancingTranslational Sciences.

Advocates for rare diseases like HD need “to get involved in every single aspect” of the search for treatments.

“AIDS advocates made the FDA bend,” he noted. “We the patients have a moral incentive. Our voice counts and makes the difference.”

An epiphany about JHD

Like other JHD advocates, Jane and Jonathan have strived to increase the attention to JHD by researchers, HD organizations, and the government.

In September 2010, Jonathan and Jane met with Dr. Steve Groft, the director of the Office of Rare Diseases Research at the NIH, to press the case for greater support for HD research.

For Jonathan and Jane, the meeting was a kind of epiphany. Pointing to the different emphases and the existence of different organizations in the field of diabetes and juvenile diabetes, Groft helped them see the key role that JHD research could play in the overall HD effort.

Dr. Steve Groft and Jane Mervar. In the middle is Max the Turtle, Karli’s stuffed animal companion that is now a mascot of the JHDKids initiative (family photo).

“The meeting was phenomenal,” Jane said. Jonathan said she came away with a greater sense of “we need to do something.”

“Everybody was so resistant to acknowledge the juvenile population,” Jane said. “It’s just like some big political game. Nobody was playing that game for our children, so we were screaming: we need a cure, we need a cure, we need a cure!”

“You need a piece of legislation to get JHD funded, and then the NIH would fund it,” Jonathan explained, pointing to one of the roadblocks facing the efforts to understand and treat JHD.

Both Jonathan and Jane observed that JHD research lags far behind other HD research, and, because of ethical concerns and the need to avoid mixing juvenile and adult research data, children aren’t included in clinical trials.

Jane tried but failed to sign up Karli for a trial for ACR-16, seen as a potentially promising HD remedy. Jane described the formal response she received as “too bad for you, you have Juvenile HD.” “I was devastated,” she said.

Karli also took the supplement creatine, currently under study for HD and taken by many in the community. “It took us almost a year to get two doctors to follow Karli when she was on creatine and to get a guideline on dosage,” Jane recalled. “There are a lot of families that are just slipping through the cracks.”

Researchers have also lacked a so-called “natural history study” of JHD – a study to follow a group of patients over an extended period to better understand the condition and support the development of treatments.

Jane and Jonathan’s advocacy has included pressing the HD organizations to pay greater attention to JHD, they said. Thanks to pressure from JHD families, last year HDSA agreed to the creation of a new fundraising effort specifically for JHD, Jane explained.

“Great things can be created from hard situations,” Jane observed.

Jonathan and Jane at the White House after their meeting at the NIH Office of Rare Diseases and Research (family photo)

Raising the profile of JHD

Jane, her daughters, and other JHD families swung into action, joining other grassroots JHD initiatives in the effort to raise awareness and funds for research.

Jacey and Erica started JHDKids.com. With a computer and video equipment provided by the Make-a-Wish Foundation, Jacey has made a series of short films, including one about Karl and Karli titled The Real Huntington’s Disease, which has had more than 220,000 views on YouTube. (Watch the video below.)

The JHDKids initiative is seeking funds specifically to support the JHD research of Dr. Jane Paulsen, the co-director of the HDSA Center of Excellence at the University of Iowa, and project partner Dr. Martha Nance, the director of the HDSA Center of Excellence in Minneapolis.

Both researchers work on a volunteer basis, with all funds raised going solely to research.

In the words of the JHDKids site, JHD differs significantly from adult onset HD in several ways. “The most significant difference is that in JHD the disease occurs before the brain is fully developed,” says a statement on the site from the researchers. “This accounts for the wide variation at one age from JHD to another age. Maturation and neurodegeneration occur at the same time in JHD.”

Drs. Paulsen and Nance began following JHD patients at the annual HDSA conventions in order to carry out the natural history study.

“Now, with the awareness and fundraising getting more widespread, they’re able to bring our families into Iowa,” Jane explained. “We’re planning on going this spring. That will be the first time we’re going to Iowa.”

One big family

Jonathan and Jane have talked of bringing their families together in one place.

For now, however, they will continue their hours-long daily conversations from their respective abodes. Jonathan’s location on the East Coast facilitates his access to the corridors of scientific and medical power, while Jane wants to respect Jacey’s wish to die in the same place as her sister and father.

The distance does not diminish their commitment to each other’s families, nor to the larger cause.

Jonathan helps Jane manage her caregiving crises. “He’s always learning something new,” she said. “He’s a very faithful, spiritual person. He’s just a very good man.”

Erica and Jacey’s doctors wouldn’t predict how long they might live, although JHD patients typically die in their 20s or 30s, if not sooner, like Karli.

Jane knows that an effective, life-saving treatment might not come in time to save them. She concentrates on providing them with the healthiest, happiest life possible. Having worked as a nurse’s aide in a nursing home and seen Karl go through his final decline in such a home, she hopes to keep her girls at home as long as possible.

“Jacey has a big phobia that if she can’t see me, she’ll die,” Jane said. “We can’t calm that down. She likes to watch movies. She likes to work on the website. She likes to see all the kids with JHD. She likes to come up with new ideas for designing the website.”

At 19, Erica had married her high school sweetheart, but the marriage lasted only 11 months. She is currently dating another man. “She wants him to learn how to do her makeup and coordinate her clothing,” said Jane, who has legal guardianship over both daughters.

She obtained a court order to obtain permission for a tubal ligation for Erica.

“I cried with her,” Jane said. “It was just a real painful process to go through. She said, ‘If I had a baby and got sicker, and what if my baby’s like Karli?’”

“Fear for my son is certainly a reason,” said Jonathan of his commitment to the HD cause, noting that, so far, his son has showed no HD symptoms. “That’s a personal, selfish motivation. Why is my son’s life more important than someone else’s life? I know Jacey and Erica and everybody else that’s dying from this.”

He added, “I’m doing this full time, and as far as I’m concerned, there’s nothing more important I can do with my life. It’s knowing everybody in the community and knowing the suffering and the damage it causes to families. You don’t leave a marine in the battlefield. It’s just wrong to walk away. I can’t stop doing it. This is my life experience.”

His experiences as Sheryl’s caregiver have deepened his feelings about others facing the same plight.

“When I see HD in somebody else, the empathy is much more intense and overwhelming,” he confided. “To me, we’re all a big family. That’s why I can’t walk away.”

Junior Seau, Super Sunday, and our most important natural resource

As America prepares to celebrate the annual ritual of brutal competition known as the Super Bowl, the negative consequences of football on the brain have come under intense scrutiny.

On January 23, the family of Junior Seau – the famed 43-year-old former linebacker who committed suicide last May after 20 seasons of professional play – sued the National Football League (NFL) over the damage to Seau’s brain caused by concussions.

The family’s action came less than two weeks after the news that researchers at the National Institutes of Health (NIH), studying tissue from his donated brain, determined that he had suffered from chronic traumatic encephalopathy (CTE), a degenerative brain disease.

Junior Seau in the uniform of his final team, the New England Patriots 

In recent years, studies of the brains of dozens of other deceased players, including two who killed themselves, have revealed CTE.

Since August 2011, some 190 brain-damage suits have been filed representing more than 4,000 former players alleging negligence by the NFL. A federal court has consolidated those suits. The Seau family has not decided whether it will enter the joint suit.

According to Seau’s son Tyler and Seau’s ex-wife Gina, Seau’s behavior included depression, wild mood swings, forgetfulness, irrationality, and insomnia.

The HD community’s outlook

Like few others, those of us in the Huntington’s disease community comprehend the brain’s vulnerabilities.

In addition to many other problems, all of the symptoms seen in Seau occur with HD.

Suicide is also all too familiar to the HD community: it is the second leading cause of death in HD patients.

Over some 15 years, I watched HD rob my mother’s ability to walk, talk, think, and eat, reducing her to a mere shadow of herself as it killed her brain cells.

Since learning of my own risk for the disease in 1995, and especially after testing positive for the HD gene in 1999, I have strived to prevent the inevitable onset of symptoms by practicing good brain health (click here to read more) and learning how HD harms the brain (as reflected in numerous articles in this blog).

A more critical view of football

I’ve followed football on and off since my childhood in Ohio, where high school, college and professional football are hugely popular. When the San Diego Chargers – where Seau played 13 seasons – began supporting the HD cause in the late 1990s, I renewed my interest in the sport (click here to read about my enthusiasm).

However, as my knowledge of brain degeneration increased, I developed a more critical view of football’s violent nature. Nowadays I wince when I see a player hit hard on the head.

I don’t wish on anybody the ravages of HD – nor the degeneration of the brain that can occur from head injuries, whether from a bomb blast, a hockey punch, or a devastating tackle. President Obama recently said that, “if I had a son, I’d have to think long and hard before I let him play football.” I too am glad my daughter is not at risk to play a violent sport, although I do worry when she competes on the soccer field.

During remarks at the 2011 gala of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego), NFL Commissioner Roger Goodell recognized the need to make football “safer.”

Needed: a national campaign

It may be impossible for public opinion to remove the fatal violence from a multi-billion-dollar industry that enthralls tens of millions of fans and resonates with our often bellicose culture. In the words of one observer, pro football is “America’s favorite blood sport.”

However, the player lawsuits could affect the owners’ profit margins, harm the league’s prestige, and force some measure of reform.

In response to the burgeoning concern about head injuries, the NFL last September donated $30 million to the NIH for research on the brain and other medical issues. In addition, as required by its collective bargaining agreement with the players’ association, the league has also announced an additional $100 million in planned spending on medical research.

In a commentary on the 2011 HDSA-San Diego gala, I expressed hope that the “NFL will make brain research a national priority at a time when HD, Alzheimer’s, and other brain disorders are beginning to strain our resources with a massive caregiving burden. Goodell, the NFL teams, and the league hold great sway in our society and have the power to mobilize people in a grand cause.”

Indeed, we need much more than $130 million and an NFL commissioner for this effort. We need a national campaign for the brain, including education about brain health and incentives for young people to become brain researchers.

As we cheer on the players on Super Sunday, let’s also remember the devastating impacts of business as usual – and to cheer for the protection of our most important natural resource: our brains.

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.”