Thursday, September 15, 2016
Dreams for a better future: an opportunity we Huntington’s disease people and our families are denied
Because of its devastating medical and social impact, Huntington’s disease often forces affected individuals and their families to abandon their dreams.
After learning of my mother’s diagnosis for HD in 1995 and then testing positive for the deadly gene in 1999, I became aware of how the disease could damage family finances.
HD families not only lose the income of the affected individual; they also bear the costs of caring for that person, including nursing home fees. Sometimes the caregiver quits his or her own job in order to stay at home with the patient. Sometimes an exhausted caregiver even dies before the HD person.
Fearing such consequences, my wife Regina and I abandoned the idea of buying a retirement home in her native country of Brazil, in order to save more money to pay for my future care.
Our daughter tested negative for HD in the womb and is today a healthy 16-year-old. Unwilling to repeat the long and psychologically traumatic process of prenatal genetic testing, we decided to have no more children. That decision was especially painful for Regina.
Delving into the cause for a cure to save my deteriorating mother, I was compelled to add a new, fundamentally different dimension to my academic career: in addition to Brazilian history, I now also study the history of science, technology, and medicine. In this blog I have tracked the development of HD research, chronicled the HD cause as a social movement, and documented the new and harrowing human experience of living in the gray zone between a genetic test result and disease onset.
This new dimension has brought many rewards, but I often fantasize about what my career would be like if it weren’t for HD.
A diversion and a trigger
Brazil, my research passion, became simultaneously a diversion from and a potential trigger of HD onset. I eagerly looked forward to the escape to the wondrous culture of Brazil during my summer research trips.
However, with both HD and my intellectual legacy on my mind, each spring I prepared feverishly for those trips, packing into my schedule as many research tasks as possible – including meetings with Brazilian Huntington’s advocates. On the plane south, I worried about whether I was doing the best thing for my health. Relaxation and exercise in San Diego seemed more beneficial than living in hotels and eating restaurant food while exposing myself to the pollution and winter weather in the São Paulo megalopolis, where I did a lot of my work.
Facing HD, I couldn’t help but wonder if each trip might be my last.
As I became more deeply involved in HD advocacy and this blog over the past ten years, I lost some passion for Brazil research.
My mother’s death in 2006 figured heavily in that equation. As I watched her succumb to HD, I knew I would be the next to be stricken by the inevitable symptoms.
Research on Brazil sometimes seemed irrelevant. However, I kept at it, continuing a string of annual research visits stretching from 1986 to 2010, and again in 2013, 2015, and 2016. Today I consider myself bi-cultural, and my network of contacts in Brazil has made my HD advocacy international.
A new perspective
Lately, I’ve entered yet another stage of my journey with HD.
This year marked the tenth anniversary of my mother’s death. With time, memories of her struggle have become less frightening.
At the same time, something more important has occurred: at 56, the age at which my mother had involuntary movements and was losing her cognitive abilities, I have yet to develop any of the classic, visible signs of HD.
Scientists are getting closer to explaining the reasons for different age of onset in people like my mother and me who have the same degree of genetic defect (click here to read more). Unlike my mother, I’ve had the advantage of knowing that I carry the gene. So I have cared for my health more conscientiously.
After testing positive at age 39, I was convinced that I would by now have symptoms that would prevent me from working and traveling to Brazil.
I have been extremely lucky. As a result, my perspective has changed. I feel more optimistic about life because of the wonderful blessing of health that I currently enjoy.
Also, while in 1995 there was a dearth of potential HD remedies, today researchers run clinical trials in the quest for remedies to alleviate HD and perhaps even make it a manageable disease, thus allowing people to lead normal lives.
Having gotten this far, and looking back on two decades of advocacy, I am also somewhat more at peace with the fact that HD will inevitably strike me.
I know I am fighting the good fight. Ultimately, I cannot control my fate.
Taking a break from the cause
I took a break this summer from the HD cause. I devoted much of it to working on a long-gestating book project on former revolutionaries in power in Brazil, including Dilma Rousseff, the president of Brazil impeached in March and removed from office on August 31 by a vote of the Brazilian Senate. To grasp this important moment in Brazilian history, I have immersed myself in the events, including watching live video.
I had started the research on this project shortly after learning of my mother’s diagnosis. I had never imagined that at 56 I would still be able to write.
Focusing fully on Brazil again this summer, I felt in my element.
I did feel guilty this summer about not responding immediately to some requests for help from members of HD families.
However, I also recalled how many HD people give up on their dreams. I thought specifically of one asymptomatic gene carrier who decided to put advocacy aside and dedicate himself fully to a promising career.
“I have a right to self-fulfillment, too,” I told my psychotherapist. “I have given up so much because of HD. I really want to finish my book on Brazil.”
All HD-affected individuals and their families have the right to their own dreams!
That’s what we in the HD community are fighting to restore.
A stark reminder of HD
The gravity of our struggle hit home again on September 13, when Laura Rivard, Ph.D., invited me to attend a screening of the HBO documentary The Lion’s Mouth Opens in her course Ethical Issues in Genetics at the University of San Diego. (In a future article, I will explore HD and bioethics in the context of Dr. Rivard’s course.)
The film portrays filmmaker-actress Marianna Palka’s decision to test for HD. Before class, Dr. Rivard’s students also watched a video of me, produced by one of her former students, in which I discuss my own experiences with genetic testing (click here to watch the video).
The scenes with HD people moving uncontrollably starkly reminded me of my mother – and once again of my own terrible burden as a gene carrier.
Our biggest dream: an effective treatment
After we watched Marianna learn from a geneticist that she carries the HD gene, I answered students’ questions.
One asked: “Do days ever go by when you totally forget about your diagnosis, or is it always in the back of your mind?”
“It’s almost always in the back of my mind,” I responded.
However, I added: “I haven’t blogged since May. This is one of the longest periods I’ve gone without blogging.”
I explained that my Brazil book had priority over the summer.
“I’ve been able to put Huntington’s disease aside for the first time in many years,” I said. “It’s really nice to wake up some days and think about Brazil instead of Huntington’s disease.”
After leaving Dr. Rivard’s class, I remembered that the battle for treatments continues. It’s a battle that we need to win.
Like others affected by HD, I don’t want to become a financial and caregiving burden for my family. And like others, I want to experience the joys of family milestones, such as seeing my daughter graduate from college and start adult life without the worry of an incapacitated father.
Wednesday, May 25, 2016
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.
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)
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.
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.
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.
Monday, May 09, 2016
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.”
“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.
'Vocês estão em boas mãos!' A Dra. Celina Zerbinatti fala para a comunidade de Huntington no Brasil from Gene Veritas on Vimeo.
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.
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
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)