Wednesday, May 25, 2016

Upbeat Huntington’s disease film, featuring undaunted family, aims for 10 million viewers

The Longest Journey – a new feature-length documentary film about Huntington’s disease – portrays the undaunted Shaffer family in an epic battle.

In June 2015, for the fourth time in ten years, Renato Shaffer of San Diego led a team of four men in the Race Across America (RAAM), a non-stop bicycle race from the pier in Oceanside, CA, to the boardwalk in Annapolis, MD. (In 2008, Renato also led an HD team in the Race Across the West.)

Their goal: to raise awareness about HD and support the effort to save Renato’s 48-year-old wife Sharon and 30,000 other Americans from the devastating, fatal neurological disorder and prevent it from striking the Shaffers’ two untested, at-risk daughters, Alexa, 25, and Taylor, 20.

Beautifully shot and directed by rising filmmaker Nathan Apffel and with inspirational sound design by Brandon Puda, The Longest Journey captures the heights and depths of the 3,200-mile race, which riders must complete in eight days or face disqualification.

“My motivation is, yeah, I’m going to suffer for seven days, but somebody with HD – they’re suffering until the end,” 50-year-old Renato says in the film. “After seven days, I get off my bike, I’m feeling good, but with HD, each day makes it worse, gets worse, gets worse, until the end, you’re just a shell of the person you used to be.”

However, as in the RAAM, the Shaffers haven’t given up the fight against HD. Along with Nathan, they want the film to help bring a cure.

In contrast with most presentations of HD I’ve witnessed in the two decades since my mother’s diagnosis for the disorder, this often emotionally wrenching film left me, an HD gene carrier, feeling upbeat.

Seeing Sharon strive to overcome HD with the help of workouts and the RAAM team compete in an event that would challenge even the best-trained Olympic athletes, I felt newly motivated to exercise, a scientifically proven way to promote brain health.

I was also inspired to renew my commitment to advocacy.

Huntington’s is so cruel. It was refreshing to see someone offer a more hopeful interpretation.

Nathan, in his role as narrator, indicates this intention at the outset: “And you might be sitting there thinking, ‘Great, another movie about getting older, the age clock spinning faster, and the happiest times were when you were a child and hadn’t faced the music yet.’ Well, I’m hoping for all our sakes this movie’s a bit bigger than that.”

You can watch the film trailer by clicking here.

Marketing the film

Nathan and producer LeeJ Razalan, a RAAM supporter and Shaffer family friend, held a private screening of the film for friends and family members in San Diego on May 19. About 200 people attended the screening, which also served as a fundraiser.

In an interview after the screening, Nathan said he expects to release the film in the next three to six months. His previous films and programs have appeared on Netflix, Bravo, Hulu, and ESPN, and he hopes to place this film with an online streaming site, aiming for ten million viewers.

Nathan, LeeJ, and the Shaffers want to educate as many people as possible about HD, and to raise funds for research.

The professional quality of The Longest Journey, its potentially wide viewership, and its positive outlook could make it a successful awareness-building vehicle.

Renato Shaffer (left), Sharon Shaffer, LeeJ Razalan, and Nathan Apffel (photo by Gene Veritas, aka Kenneth P. Serbin)

Fighting until she can’t fight

We learn in the 75-minute documentary that Renato married his high school sweetheart despite knowing her father had HD and that she might have inherited the genetic defect.

“She’s fighting a good fight,” he says. “At this stage, her father was already pretty far gone. She’s 48 now, and at least she can still speak, she can still communicate. She still has a little bit of freedom to do what she needs to do, as opposed to her father, who pretty much gave up.

“When he found out that he had it, he tried to kill himself a couple times. Not Sharon. She’s fighting until she can’t fight anymore.”

“It scares me that my whole family’s out there,” Sharon, her speech slurred by HD, says about the dangers of the long race, which originated in 1982. “There’s been deaths. There’s been accidents, so many accidents.”

Some teams “never come back the same,” she adds. Already by Colorado, 24 teams had to quit the 2015 race, unusually grueling because of extremely hot weather in the West, as shown in the film.

In past races, Sharon helped as a support team member on the road. In 2015 HD kept her home. She flew to Maryland with other family members on the last day.

Valiant people

Everybody in The Longest Journey is on a personal mission against HD, including Nathan, whose HD-affected brother-in-law has two young, at-risk children.

Nathan skillfully interweaves scenes from the Shaffer team’s spectacular athletic performance with interviews with Sharon, Renato, his teammates, and the Shaffer daughters and their boyfriends.

Also interviewed is Sharon’s physician, Jody Corey-Bloom, M.D., Ph.D., the director of the Huntington’s Disease Society of America (HDSA) Center for Excellence for Family Services and Research at the University of California, San Diego. Dr. Corey-Bloom explains the causes and symptoms of Huntington’s, providing a counterpoint to scenes in which we see Sharon speaking or fighting to overcome her condition.

As disabling symptoms gradually appear, HD patients “absorb” many “blows,” Dr. Corey-Bloom says.

“These are young people struck down at very productive points in their lives,” she adds. “There’s a valiant nature to people.[…] People are just so amazing in the way they handle it and deal with it and just try to keep going on.”

The desire to survive

The Longest Journey bravely ponders HD’s endpoint: death.

“I think the hard thing for people to […] talk about is that it’s fatal,” Dr. Corey-Bloom comments.

However, The Longest Journey doesn’t dwell on death. On the contrary, it focuses on the RAAM, the Shaffers’ efforts to defeat HD, and their large network of supporters.

Sharon is living with her HD, and her family along with her, to the greatest extent possible.

Sharon and her family do CrossFit exercises in the Shaffer garage, converted into a gym.

Nathan projects Sharon’s desire to survive and her family’s hopes for a cure by focusing on their expressions during interviews and moments of the RAAM.

“I still feel: what an amazing lady,” says Dr. Corey-Bloom, recalling that Sharon before HD onset was articulate and employed by a drug company. “She is tough. I am sure there must be days when she sort of thinks, ‘Why am I even bothering?’ She’s out there. She campaigns for things. Renato makes that grow.

“These are two people who, at least in San Diego, everyone looks up to.”

Sharon and Renato (photo by Gene Veritas)

Good-natured and humorous

Nathan balances the many difficult challenges of RAAM and the struggle against HD with moments of humor and optimism.

“It’s only the end of the first day, and I didn’t know a body could sweat as much as I’ve sweat in the last few hours,” he observes. “Our vehicle’s already starting to smell like day-old beef stroganoff.”

Alexa good-naturedly refers to sister Taylor as a “neat freak” who bought “ten Glade air fresheners” for the two vans the riders eat and sleep in when off the road.

“Mother nature beat us up a little bit,” observes teammate Jason Tate, 45, about the winds and heat.

These and other moments made the audience laugh.

Wisdom on HD

Through the interviews with the Shaffers and their friends, The Longest Journey offers much wisdom for the HD community.

The documentary exemplifies how families can unite – not split – when faced with the myriad challenges of HD. It also demonstrates how people like LeeJ, a friend with no blood connection to HD, provide crucial support for the cause.

As HD advocacy, The Longest Journey can potentially draw out of the “HD closet” those individuals and families needed as volunteers at events and in research studies and clinical trials.

Projecting optimism

Like The Lion’s Mouth Opens, Removing the Mask, and other films about HD, The Longest Journey offers a unique perspective.

After the screening, some attendees had tears in their eyes. However, the audience also applauded enthusiastically.

In talking with the audience, Nathan and LeeJ projected optimism.

I believe that optimism is indeed the film’s most important quality. I listened with great interest to Nathan and LeeJ’s recollections and their plans to attract viewers.

They recalled how the project was born after Nathan met Sharon, who was wearing a RAAM t-shirt, met at the 2015 HDSA-San Diego Hope Walk.

“Everything was serendipitous up to today,” said Nathan.

He explained that a film like this normally costs $300,000 to $500,000.

“The coolest part is that we made this one for 20,000 bucks,” he said. “Don’t get me wrong. There’s a lot of blood and sweat equity put into this.”

Noting that he shot the film in 4K (ultra high-definition) resolution/high dynamic range, the next generation TV technology, he added: “We’ve future-proofed this film for the next ten years.”

As of that evening, Nathan and LeeJ still needed $8,000 to reach their $20,000 basic budget. In an e-mail the next day, LeeJ announced that donations from the screening amounted to $9,000.

LeeJ with racing bike to be raffled to support the HD cause (photo by Gene Veritas)

A raw and authentic story

They will now focus on marketing the film, including film festival submissions.

“This is my strongest [film], hands down,” Nathan told the audience. “I think it has the heart and the quality. I want to open or close Sundance or a really, really big festival.”

LeeJ calls The Longest Journey a “raw and authentic instrument to share the story of HD.” As a slogan to accompany the film, they’re considering “better together,” a reflection of its emphasis on family and community unity.

As Sharon states at the end of the film, in a message relevant for all HD families: “My advice would be to just continue to love yourself and your family.”

To donate to the Shaffers’ efforts to combat HD, click here.

Renato (left) and Nathan (photo by Gene Veritas)

Monday, May 09, 2016

A family united against Huntington’s disease

The overwhelming challenges of Huntington’s disease frequently provoke serious conflict – even splits – within families.

The genetic nature of HD, the accompanying stigma, the devastating symptoms, and the heavy caregiving burden often produce emotionally draining conflicts. Then the lack of solidarity impedes the quest for improved care and treatments.

On April 24, during a recent visit to Brazil, I met the extraordinarily united Miranda family. The Mirandas’ example provides HD families (and other disease communities) with an alternative to hostility: when adversity hit, they pulled together.

At the invitation of their matriarch, Edília Ferreira Miranda Aded Paz, I met more than a dozen members of the extended family at Edília’s spacious home in a prosperous neighborhood on the outskirts of Brasília, the capital.

Edília’s father, Marcondes Miranda, died of HD in 1974 at 62. Marcondes left an enormous number of offspring affected by or at risk for the disease. He and his late wife had 14 children, eight of whom inherited the HD genetic defect. Today there are 50 Miranda grandchildren, plus also great-grandchildren and great-great-grandchildren. Some descendants have died from HD, others currently suffer from the disease, and many young ones likely carry the defect.

Edília, who tested negative for HD, took the family’s lead on HD in the mid-1990s. At 65, she is the vice president of the União dos Parentes e Amigos dos Doentes de Huntington (UPADH, Association of Relatives and Friends of Huntington’s Patients), based in Brasília, and she sits on the board of Brazil’s other HD organization, the Associação Brasil Huntington (ABH), headquartered in São Paulo.

“What’s interesting about my family is that it united us,” Edília, a retired public servant, said of Huntington’s. “From the moment we learned that a very large number of people had the gene, we came together.”

We spoke in Portuguese during the family meeting, which I recorded so others could listen later. Edília and I had met briefly at the World Congress on Huntington’s Disease in Rio de Janeiro in 2013, and she follows this blog. I had long wanted to meet with UPADH members.

“I do everything possible and impossible to keep the family united,” Edília continued. “Because in my mind, if things are already bad enough with all these people affected, it’s even worse if we’re alone.

I don’t have the disease, but I never celebrated that fact. Two other sisters who tested negative and I used to say: what’s worse – having a disease yourself or seeing siblings die from that disease and knowing that nieces and nephews have the disease? But I took on this mission. I don’t do it to show off. I do it because it makes me feel good. I don’t have the disease, but I can help.”

Edília at her home in Brasília, April 24, 2016 (photo by Gene Veritas)

Unconditional love for the stricken

The meeting at Edília’s home was the largest family gathering I have encountered in nearly two decades of HD advocacy. After warm introductions, we sat in a circle in the living room. With Edília’s prompt, I began the meeting. I explained that my mother died of HD and that I carried the HD gene.

For the next two hours, as we shared our stories, I witnessed the deep pain that HD has wrought on the Miranda family and their courage to fight back.

Edília’s sister-in-law Izaura Maria Soares Miranda lost her husband, Genésio Miranda, to HD. They had three sons and a daughter. All three sons developed HD. The oldest, Marcus Vinícius, died nine months ago, at 46.

“The disease started in him at age 32,” Izaura said, still deeply stricken with grief. “I took care of my son for eleven years. I saw him die little by little. I didn’t want him to die. I’m still mourning him. A piece of me is missing.

“No mother deserves to go through that, to lose a son. I know he’s now at rest. He suffered a lot. But that doesn’t diminish the pain.”

Seeing her other sons devastated by HD has multiplied her suffering, said Izaura, 65, an attorney who has testified about HD in the Brazilian Congress.

“In the next incarnation I don’t want children,” she insists. “I don’t want to suffer. I love my children unconditionally. I raised them alone and continue to care for them alone. So I’d kill or die for them. In the next incarnation I don’t want to suffer.”

Edília's nephew Félix (left), friend Estela, sister-in-law Izaura, and niece Samantha (photo by Gene Veritas)

The other relatives present revealed many other difficult HD challenges: caring for parents and children stricken with the disease, pondering genetic testing, and pooling resources to aid affected relatives unable to earn a living, including one symptomatic woman with young children.

In the words of one niece, Edília has “mobilized the entire family” to assist relatives in dire need because of HD.

In another example of unity, Edília noted the regular collaboration between the UPADH and ABH. The two organizations emerged independently of each other based on the needs of the families they serve in their particular regions of Brazil.

The Mirandas make history

According to Edília and a 2009 news article on the family, in 1995 the Mirandas became the first Brazilian family to undergo genetic testing for Huntington’s disease. Scientists identified the disease-causing gene in 1993, making such a test possible.

Advised by a neurologist in Brasília, the extended family pooled its resources and paid about $80,000 for the tests, done in a lab in another city. The family elected Edília to receive the results for the entire family.

Very quickly, most of the family regretted the decision to get tested: HD was untreatable, so what good did it do to know? Edília knew she had tested negative, but at the time nobody else in the family wanted to learn the results. So Edília didn’t share the documents with anybody.

Worse, at the time Brazil lacked protocols for genetic testing. Such protocols include a waiting period before collecting the DNA sample, as well as genetic and psychological counseling.

The Brasília neurologist simply handed over the test results with no additional information, Edília recalled.

“As a consequence of that, big changes were made in way test results had to be delivered,” Edília said.

In 2008, Edília removed the genetic test documents from the safe in her house and burned the results of those who had tested positive for HD but didn’t want to know their status. Edília had memorized the results; at the April meeting, she discussed some of them openly.

“Yes, I burned them, because looking at them brought great suffering,” Edília wrote after our encounter in Brasília. Without psychological support for the family or the hope of treatments, “I felt at rock bottom,” she recalled.

Anxious to end the ‘nightmare

Today Edília and her family have greater hope.

At the meeting on April 24, the Mirandas eagerly awaited news on the latest HD clinical trials. They were excited to meet an advocate from the United States, where the HD cause is relatively strong and many companies and universities have labs focused on finding treatments.

The Mirandas especially wanted to know about the Ionis Pharmaceuticals Phase I HD gene-silencing clinical trial currently in progress in England, Germany, and Canada. I reported that the first group of gene-silencing volunteers had safely completed their portion of the trial, and that the chief HD drug hunter has expressed confidence that effective HD treatments will eventually appear (click here to read more on these developments).

The family hopes anxiously for a cure to be freed of the “nightmare” of HD, said Jucilene, a niece who struggled terribly with fear before testing negative in 1995.

Noting that I had avoided symptoms into my 57th year, the Mirandas also wanted to discuss my personal strategies for avoiding the inevitable onset. We covered the gamut, from supplements to psychotherapy, exercise to healthy eating.

Gene Veritas (seated, center) with members of the Miranda family (personal photo)

I promised further news from two key, Portuguese-speaking members of the effort to develop HD treatments: Celina Zerbinatti, Ph.D., vice president for biology at Evotec, a Germany-based drug discovery company partnering with CHDI Foundation, Inc., the nonprofit virtual HD biotech, and Cristina Sampaio, M.D., Ph.D., CHDI’s chief clinical officer and one of the individuals responsible for Enroll-HD, the CHDI-sponsored global patient registry and clinical trial platform.

“You are in good hands!” Dr. Zerbinatti said in an interview aimed at the Brazilian HD community in which she outlined the efforts of CHDI and Evotec.

In another interview, Dr. Sampaio explained the importance of Enroll-HD for Brazil and urged Brazilian advocates to keep pushing for the adoption of the program in their country.

I conducted both interviews at the annual CHDI conference in February. You can watch them in the videos below.

Enroll-HD rejected in Brazil

With large HD families such as the Mirandas, Brazil and other Latin American countries could play a pivotal role in defeating HD by providing badly needed volunteers for crucial research studies and clinical trials. The world’s sixth largest nation, Brazil has an estimated 20,000 HD-affected individuals.

However, Enroll-HD currently functions in only two countries in the region, Argentina and Chile.

In October 2015, CONEP, Brazil’s National Research Ethics Commission, rejected CHDI’s proposal to set up Enroll-HD there.

“It never occurred to us that Enroll wouldn’t come to Brazil,” Edília said. “Enroll is very important for us.”

Reconciling different standards

Advocates aim to reverse the commission’s decision.

On March 28, Edília, ABH President Vita Aguiar, three former ABH presidents, and other advocates met in São Paulo with the CONEP coordinator, Dr. Jorge Venâncio. Edília’s niece Taís, an attorney, also took part. She is at risk but has not tested for the disorder.

“We were very well received,” Edília said. “It was a very productive meeting. We wanted to know why the Enroll application hadn’t been approved.”

According to Edília, Dr. Venâncio explained that the CHDI applicants had not answered all the questions posed in the government paperwork. In addition, the Brazilian officials disagreed with some aspects of the international research study standards included in Enroll-HD.

Edília cited the example of genetic testing. In the Enroll-HD program, which collects participants’ blood samples and tests for the HD genetic defect, the participants can decline to learn their genetic status.

“With the Brazilian government, the patient has to know,” Edília said, referring to the country’s rules for research studies.

As one of Edília’s relatives pointed out, Brazil’s requirement will diminish the number of volunteers willing to offer their blood for Enroll-HD. Scientists study aspects of the blood to advance the effort to discover treatments.

For those who would participate and learn their genetic status, either Enroll-HD or the local clinics involved in the program would need to provide genetic and psychological counseling, Edília explained.

As the Miranda family’s earlier experience with genetic testing starkly illustrated, Brazil lacks an adequate genetic counseling infrastructure. A recent news report noted that this continent-sized country has only 100 geneticists, for example.

A pledge to resolve issues

Despite this and other disagreements over protocol, Edília remained optimistic that Enroll-HD would enter Brazil. She said that Dr. Venâncio pledged to help resolve all of the pending issues. He guaranteed a response to a new application within three to six months, she said.

The Brazilian advocates also await resumption of the initiative at CHDI, where the long-time Enroll-HD coordinator, Joe Giuliano, recently left to take a position elsewhere.

“The coordinator of CONEP asked us to notify him as soon as we submit the new application so that he can give it priority,” Edília said.

Long-term hopes

My trip to Brasília marked milestones in my journey as a college professor, Brazil specialist, and Huntington’s disease advocate. I also had the chance to visit my brother-in-law and his family.

From April 25-28, I helped evaluate proposals to establish research in the social sciences and humanities to be funded by Brazil’s National Council for Scientific and Technological Development. The prestigious multidisciplinary meeting of some 40 researchers from around the world widened my perspective as a scholar branching into the history of science, technology, and medicine. I hope this endeavor will enhance my ability to interpret the history of the HD cause and advocate even more effectively for it.

On the evening of April 28, for my research on Brazilian politics, I attended a turbulent hearing of the committee installed in the Brazilian Senate to consider the charges of impeachment brought by the Chamber of Deputies against President Dilma Rousseff. On May 6 the committee voted 15-5 to recommend the charges to the full Senate.

I was thrilled to have the health and clarity of mind necessary to witness this historic moment: I had always thought that by now HD would have prevented me from taking the arduous trip to my second home.

Despite Brazilians’ current pessimism about their country’s immediate political and economic future, I felt a renewed sense of hope for the long term after meeting the Mirandas.

Led by Edília, they will not rest until the day HD no longer threatens their family and the families of so many others.

Gene Veritas (aka Kenneth P. Serbin, Ph.D.) at Brazil's Congresso Nacional building in Brasília, April 28, 2016 (photo by Lucas Souza)

Friday, April 15, 2016

From sheepish to self-assured in the fight against Huntington’s disease

Occasionally some readers of this blog have told me that, in comparison with their own travails, it seems that I cope well with living at risk for Huntington’s disease.

With two decades of experience in the HD fight, a loving family, and a support system that includes a helpful psychotherapist and other health professionals, I’ve become more self-assured.

However, the hard truth is that I have struggled a lot.

Each act of advocacy, including the articles I post here, represents a challenge.

Driven by fear of the illness, I’ve constantly strived to improve my advocacy.

I’ve also been inspired by the dedication and ingenuity of HD researchers as they’ve advanced towards the first treatments for this complex, incurable disorder. I believe that the hope of effective treatments has boosted the overall morale of the HD community.

Scientists, physicians, drug companies, and advocates all unite forces in this historic quest. Ultimately, HD-affected families hold the key to success. Without our participation in research studies and clinical trials, we won’t defeat HD.

The ‘HD closet’

I first heard about HD when I learned of my mother’s diagnosis, the day after Christmas 1995. I was about to turn 36.

I immediately started educating myself about the disorder, including the fact that, as the child of an affected parent, I had a 50-50 chance of having inherited the defective gene.

I started attending a monthly HD support group. A few years later I became very active in the local chapter of the Huntington’s Disease Society of America (HDSA).

However, for many years I hid in the “terrible and lonely HD closet,” telling nobody but close relatives and friends about my family’s plight.

I quickly learned to feel comfortable around other HD advocates and support group members, but, when first attending public events, I acted sheepishly.

Thanking my geneticist

Last week, I wrote a thank-you e-mail to Dr. O.W. Jones, who made a very generous donation to my family’s team in the HDSA-San Diego Team Hope Walk, held April 10.

Dr. Jones was the geneticist who delivered fateful news to me in 1999: I carried the HD gene.

In early 2000, he brought the best of news: our daughter-to-be had tested negative for HD in the womb.

Every year I send Dr. Jones, now retired, our family Christmas photo. It’s my way of thanking him again for his assistance, and also a way for us to both recall his sage observation after I received my test results: “a positive test is not a diagnosis of the disease.” I’ve lived with that knowledge for nearly 17 years without developing classic symptoms.

“Hi Ken: Keep it going!” Dr. Jones wrote on our donation page.

Summoning up courage

As I sent my latest note to Dr. Jones, my mind hurtled back the first HDSA-San Diego fundraising gala in October 2001. HDSA presented Dr. Jones with its Distinguished Leadership Award for, as I later wrote in an anonymous article in the chapter newsletter, “his informed and compassionate assistance to the many families faced with the traumatic difficulties of genetic testing for the disease.”

It was my first high-profile HDSA event, with community leaders such as San Diego Chargers President Dean Spanos present. Dr. Jones’s family also attended.

I had never ventured to bring up HD with anybody outside my inner circle, yet I wanted to personally express my appreciation for Dr. Jones. With great trepidation, I approached one of Dr. Jones’s relatives, an adult daughter. In general terms, but with great emotion, I told her how her father had played a very important role for my family.

I had to summon up great courage to say those words. In a very tentative way, I had “come out” about HD.

Small steps are okay!         

Like life, advocacy is a process. Many of my early blog articles reveal how long and difficult the path to greater self-assurance has been.

Indeed, only in late 2012 did I fully exit the HD closet.

It’s still not totally comfortable for me to address HD with people outside my inner circle.

Indeed, who could ever be completely self-assured when facing a disease like Huntington’s?

Ultimately, overcoming the insecurity resulting from the threat of HD starts with joining the cause.

Small steps are okay! With time, they will lead to bigger ones.

The accumulation of small steps by many people is powerful. As I always tell people in online discussions or e-mails, “together we will beat this disease!”

Becoming more assertive

At the first HDSA-San Diego Team Hope Walk in early 2012, my family had a small team and raised very little money.

Since going public later that year, I have grown more assertive.

The exhortation of one leading local advocate at our support group has often guided me: if we don’t tell our stories, why should anybody care about us?

I have shared my family’s story with as many people as possible: relatives, friends, co-workers, high school and college classmates, and new acquaintances.

In the last three walks we have entered, my family’s team has raised more than $30,000 for HDSA, thanks to our generous donors.

In addition to raising funds, we’ve educated scores of people about Huntington’s disease and the need for treatments.

This year’s San Diego Team Hope Walk was especially poignant. After the several hundred participants finished the course, we held a minute of silence for Terry Leach, the brave 18-year-old San Diegan who lost his life-long fight against HD on January 2. Terry's mother Angela took part in the walk.

It’s time to stop the suffering caused by HD, help point the way to cures for other neurological and rare diseases, and make brain health a national priority.

(In the spirit of assertive advocacy, I dedicate this article to the members of the Serbin Family Team and the many donors who supported our participation in the 2016 Team Hope Walk. Thanks to their generosity, we garnered $9,400 for HDSA, making us the top local walk fundraiser for the third time! Scroll down for photo highlights of the walk.)

The Serbin Family Team at the 2016 HDSA-San Diego Team Hope Walk: from left to right, Gary Boggs, Yi Sun, Regina Serbin, Dory Bertics, Isabelle Wisco, Bianca Serbin, Allan Rappoport, and Kenneth P. Serbin (aka Gene Veritas) (photo by Randy Oto). Not pictured: Jayne Millum and Cindy Stempien.

Serbin Family Team members Gary (left), Ken (Gene Veritas), Regina, and Yi with downtown San Diego skyline in background (personal photo)

Advocate Sharon Shaffer, affected by HD, greets former HDSA-San Diego president Bill Johnston, public relations director of the San Diego Chargers and recognized during the event along with daughter Hayley for their leadership in the HD cause (photo by Gene Veritas)

HDSA-San Diego vice president Misty Daniel (left) recognizes Tim Schroeder, one of the top Team Hope Walk fundraisers, for his steadfast, exemplary fight against Huntington's disease (photo by Randy Oto).

Misty and Angela Leach, mother of deceased juvenile HD patient Terry Leach, at the start of the minute of silence for Terry (photo by Randy Oto)

Participants in the 2016 HDSA-San Diego Team Hope Walk (photo by Randy Oto)

Fanny & the Attaboys provided live entertainment (photo by Randy Oto).

Gene Veritas (left) with HDSA-San Diego president Burt Brigida (personal photo)

Paul Negulescu (left), vice president of research at Vertex Pharmaceuticals, a sponsor of the Team Hope Walk that conducts HD research, with Gene Veritas, Debbie Negulescu, and Heather Farr of Vertex (photo by Bianca Serbin)

Team Hope medals awarded to all participants in the Team Hope Walk (photo by Randy Oto)

The path to the cure of Huntington's disease (photo by Randy Oto)

Monday, April 04, 2016

Just living life: a focus on what matters most in coping with the risk of Huntington’s disease

As a carrier of the Huntington’s disease gene who’s reached the age of 56 without apparent HD symptoms, I believe that the emotional release associated with this blog – sharing my fears, hopes, and advocacy – has helped me stave off the inevitable onset of the disorder.

Ideally, I’d like to write in this blog weekly.

However, I don’t always have time, as evidenced by my taking nearly a month to post an update.

I regret the delay, because I have a growing list of critical developments in advocacy and research to report on, for example, the results of the 11th Annual HD Therapeutics Conference, held in February.

However, like so many people in this harried world, I juggle multiple demands involving family, career, and community.

Beyond that, those of us in the HD movement (and in other disease communities) have the added responsibility of caregiving, multiple forms of advocacy, and/or living with the disease or its threat.

Ever more conscious of life's brevity and my good fortune in remaining asymptomatic, I’ve been focusing on what matters most.

Being there for the family

One of my deepest fears about HD concerns losing the ability to support my family. Having seen my mother decline terribly because of HD, I long worried that I would become a financial and medical burden for my wife Regina and daughter Bianca, or, worse, that I might not see Bianca graduate from high school.

In my current stable health, I devote time and energy to helping Bianca transition from teenager to young adult.

A few weeks ago, I acquired a third family car so Bianca can drive my “old” Nissan Altima when she gets her license. While we’re fortunate to afford an extra car, it’s no luxury; it will allow her to drive to school, freeing Regina and me each from several hours of driving weekly. We also recognize that having a car is a rite of passage in America, especially in the auto-oriented culture of Southern California.

Once again, HD factored into our family decision-making: seeking to economize and plan prudently, we bought a used 2013 Honda Accord in good enough condition that, as Regina put it, could last me until retirement.

As my trusted mechanic put it, the four-cylinder Accord’s engine is “God’s gift to humanity” because of its reliability. As a teenager, I had always admired the Accord and daydreamed about owning one. Lately, I’ve come to detest driving because of the crazy Southern California traffic – I long for a mass-transit system like those in European cities – but the Accord has brought back some of the enjoyment.

Priority over the blog

I had planned on buying a car only when Bianca received her license later in the year, but a major connection in my HD journey saved me the headache of shopping for one by alerting me to the availability of the low-mileage Accord.

Rob Millum, a friend whom I met while serving on the board of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA) and also a former member of the HDSA national board, works as a consultant for Affinity Development Group and administers the Costco Auto Program.

Rob’s a natural leader who cares about serving humanity. With his auto dealer’s license he helps people save money on nearly new cars and recreational vehicles. He doesn’t need to work full-time but does so to help support the HD community and other causes.

Rob and I have had deep conversations about HD, this blog, and life in general. When I couldn’t attend the 2011 HDSA convention to receive the HDSA Person of the Year Award, Rob accepted the honor in my name.

And Rob’s a darn good car guy, too!

At 2011 HDSA national convention, HDSA Chairman of the Board Don Barr (left), Rob Millum, and HDSA CEO Louise Vetter as Rob accepts HDSA Person of the Year Award for Kenneth P. Serbin (aka Gene Veritas) (photo by Ashley Miller).

In 2010, Rob helped me purchase my 2011 Altima through Costco’s no-hassle program; his nephew was the salesman. I then parted with my 1999 Corolla, my so-called “DNA car,” which had those highly symbolic letters on the license plate and which had carried me through many miles of HD advocacy (click here to read more).

We had upgraded to the bigger, sturdier Altima for safety reasons. Now it will become Bianca’s car.

Dealing with my credit union’s loan department, figuring out the high-tech gadgetry of the Accord (the owner’s manual is 595 pages long!), and other details of the purchase took priority over this blog.

Other aspects of my HD advocacy have also reduced the time for the blog, for example, raising funds for the 2016 HDSA-San Diego Hope Walk, set for April 10 (click here to donate to our team). Support for HDSA is essential in the quest for treatments.

Just living life

Despite the new financial load of car payments along with our mortgage and other payments, I felt grateful about handling the details of the Accord purchase for my family.

It’s reminded me how quickly our “miracle baby” – who tested negative for HD in the womb in 2000 – is growing up. The toddler I used to push in a stroller at the zoo now practices driving the Altima on the freeway. We’re starting the search for colleges.

I also remind myself to focus on the basics to help avoid HD onset: a healthy diet, good sleep habits, and regular, vigorous exercise. I can get lackadaisical about all three!

Spending more time on the essentials, as well as enjoying life more fully, takes time away from HD advocacy and blogging.

I feel that I need a break from the din of the Internet, the 2016 presidential campaign, the TV commercials, the political crisis in Brazil (the country I research), the e-mails and Facebook postings concerning HD, and all the other things that diminish my peace of mind.

The Easter Vigil Mass I attended on March 26 provided a respite, with two hours of chanting and scriptural readings, a stark contrast with our daily lives outside the sanctuary.

Knowing how many of my symptomatic "HD brothers and sisters" valiantly cope with the disease, I’m thankful for the chance to just live life.