In this electoral season, let’s highlight our natural role as caregivers and support care professionals

In the Huntington’s disease community and many others facing debilitating diseases, caregiving is essential.

 

The COVID-19 pandemic has made the need for volunteer caregiving perhaps more apparent than at any time in recent memory. In addition, examples of “heroes” have emerged among care workers such as healthcare professionals, first responders, and other occupations.

 

In this electoral season, no matter what your political persuasion, let’s highlight people’s natural role as caregivers and support the care specialists, many of whom work for very low pay.

 

The bedrock

 

Caring for others forms the bedrock of human relationships. This frequently extends to assisting individuals with health challenges.

 

We come into the world cared for by parents and other adults. Teachers care for us and become key role models as we progress through the school system. If we attend college, professors, peers, counselors, and others provide comprehensive support.

 

Spouses and partners care for and support each other, and if one falls seriously ill, the other helps. The same often happens with siblings.

 

Just as our parents raised us, so do we often look after them in their old age. In the U.S., where extended families once took in parents and relatives, caring for the elderly has increasingly become the responsibility of assisted living facilities and nursing homes. Nevertheless, children often bear the responsibility of finding a safe, good-quality place.

 

Many developing countries (such as Brazil, the country I study) lack assisted living, putting the responsibility squarely onto families.

However, as discussed below, in the U.S. the demand for caregiving is shifting much of the responsibility back into people's homes.

 

Lessons from the Huntington’s community

 

As a Huntington’s advocate and family member, I have learned many lessons about caregiving and seeking professional assistance.

 

My “HD warrior” father Paul Serbin cared for my HD-stricken mother Carol throughout most of the 20-year course of the disease (click here to read more). She also had an in-home care worker assist her with such needs as bathing and styling her hair.

 

Spending the last months of her life in a nursing home, my mother died in 2006 at age 68.

 

Paul Serbin pushing Carol Serbin in wheelchair (photo by Gene Veritas, aka Kenneth P. Serbin)

 

And, as an HD gene carrier “racing against the genetic clock,” I know that the inevitable onset of symptoms could lead me to depend completely on my wife Regina and others for care.

 

(Two nights ago ­– perhaps in anticipation of writing this article – I had a nightmare in which a prominent leader of the HD cause told me that I had chorea, the involuntary, dance-like movements typical of the disorder. The symptoms remained throughout the dream.)

 

I have also witnessed how a mother like Angela Leach tenderly looked after her son Terry, hit with HD in the toddler years. He died at 18.

 

Demand on the rise

 

As I noted in a previous article, volunteer caregiving is a “prominent yet often unheralded human practice.”

 

I’ve also reported on how some HD-afflicted individuals face subpar institutional care, fueled by ignorance and approaching neglect.

 

The demand for both volunteer and professional caregiving will continue to increase as humans generally live longer, and as millions develop neurological disorders such as Alzheimer’s disease and others.

 

One in five is a caregiver

 

In May, the Family Caregiving division of the American Association of Retired People (AARP) and the National Alliance for Caregiving (NAC) issued the extensive report Caregiving in the U.S. 2020.

 

“Today, more than 1 in 5 Americans (21.3 percent) are caregivers, having provided care to an adult or child with special needs at some time in the past 12 months,” the report states. “This totals an estimated 53.0 million adults in the United States, up from the estimated 43.5 million caregivers in 2015.”

 

The report asserts that the number of recipients of care living with caregivers continues to rise.

 

Caregiving is also becoming more complex, because individual care recipients have an increasing number of health conditions, the report states. Caregivers also rely more on household minors for assistance.

 

According to the report, caregiver self-reported health is also declining, because of the added stresses of caregiving.

 

The report observes: “Caregivers who cannot care for themselves may become unavailable to care for others; likewise, caregivers have their own financial, health, and wellness needs, which begs the question, ‘Who will care for the caregivers?’”

 

Financial stress is also common: “In fact, caregivers’ savings are eroding, with 22 percent who used up personal short-term savings and 12 percent who used up long-term savings (for things like retirement or education).”

 

Unpaid caregivers serve as a “core piece” of the health and long-term services and supports formal care systems, “as well as the main source for long-term care for adults living at home and in the community.”

 

Supporting caregiving

 

With the AARP-NAC findings, and as we approach the November 3 election for president and other key offices, we once again should pause to reflect on a crucial question:

 

How can meet the caregiving challenge – including paying professional caregivers more, providing respite for family members, and improving the regulation and overall quality of facilities?

 

The AARP-NAC report informs that 68 percent of caregivers surveyed support an income tax credit for caregiving. A similar percentage want back pay for caregivers for some of their hours worked. More than half favor establishing the right to partially paid leaves of absence from work for caregiving.

 

The party platforms

 

For the upcoming election, the Republican Party did not develop a new platform, simply readopting the 2016 version. It does not mention “caregiving” or “caregivers.”

 

The 2020 Democratic Platform proposes Social Security reform to provide benefits to assist those who forego paid work because they are caregivers. The platform further proposes making it easier for unpaid caregivers to save for retirement.

 

In addition, the Democrats advocate expanding access to home and community-based long-term care services and supports; eliminating waiting lists for home and community-based care; and bolstering Medicaid’s capacity to fund such services. The Democrats support a tax credit for informal and family caregivers and increasing the Child and Dependent Care Tax Credit.

 

“Democrats will also pursue policies to improve nursing home staffing and quality standards, strengthen accreditation processes, and combat corporate abuses in nursing homes,” the platform states. The party also supports a “roadmap to citizenship” for undocumented caregivers.

 

Building a better society

 

The benefits desired by the surveyed caregivers and the Democrats’ policy statements bear serious consideration.

 

In my more than two decades as an HD advocate, I have heard many stories of families whose resources were depleted by caregiving costs, lost work opportunities, and the government requirement that practically all assets be spent before receiving public aid for nursing home care.

 

I believe that highlighting our common role as caregivers can benefit all of us.

 

As a nation, we must embrace caregiving and professional care work as a non-partisan issue. Perhaps in some way this could serve as an antidote to the deep political polarization that afflicts us.

 

At the very least, it can help point us in the direction of building a better society.

In times of crisis, Huntington’s and other chronic disease communities provide examples of fortitude

For individuals and families facing Huntington’s and other chronic diseases, daily living often seems like nonstop crisis. These communities, including selfless caregivers, have demonstrated great fortitude.

The current coronavirus pandemic adds another giant, unknown layer to the kind of challenges and suffering many in these communities are already accustomed to.

The country’s reaction to the pandemic and the shutdown of daily routines starkly reminded me of the national climate in the months following the September 11, 2001, terrorist attacks on New York City and Washington, D.C. Resulting in 3,000 deaths, 9/11 led to a temporary grounding of all domestic flights, the fear of subsequent attacks (including nuclear), and panic regarding other, unrelated terrorist threats such as the deliberate spread of highly dangerous anthrax bacteria. The economy also suffered serious long-term effects.

Members of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA), in the bewildering days after 9/11, held a previously planned fundraiser and got ready to hold its first Celebration of Hope Gala.

With so many other, urgent demands on potential donors, we feared people might not remember our needs.

Later that fall, in an editorial in Conquest, our chapter newsletter, I wrote the following:

On September 20, less than two weeks after the crisis, members of the public and local organizations participated in the Third Annual Indy Go-Kart Challenge to raise funds for the cure of HD. Then, on October 11, the one-month anniversary of the attack, several hundred San Diegans took part in the Celebration of Hope Dinner to assist the Center of Excellence for Family Services and Research at the University of California, San Diego. We raised tens of thousands of dollars at these events. Elsewhere in the country other HDSA events went on as planned.

In this manner HDSA and its supporters have sent a resounding message that generosity and compassion are far stronger than the hateful politics of terror. We will move ahead, no matter what the odds are against us. This is the American spirit.

Unprecedented impact on daily life

So far, the coronavirus pandemic has had an unprecedented impact on the United States, with schools, universities, and many other institutions closing or switching to remote, online operations. As of March 15, at least 65 people had died in the U.S., with worst-case scenarios projecting 200,000 to 1.7 million deaths.

The pandemic has changed my workplace unlike any earlier tragedy. After 9/11, no classes were cancelled by my employer, the University of San Diego (USD). In 2003, the devastating Cedar Fire in San Diego County left 15 dead, destroyed 2,820 buildings, and charred more than 280,000 acres. In response, USD shut down for just two weeks and finished the semester normally, with everybody back on campus.

Now, because of the virus, USD has cancelled classes this week and will finish the semester (eight more weeks, plus final exams) online. The University of Pennsylvania, where my HD-free daughter Bianca studies, will do the same. My wife and I are worried that Bianca will not be able to make it home in time before potential travel restrictions.

Each hour, we learn of more victims of the virus and further curtailment of life as we know it.

Impact on the HD community

The global crisis has also impacted the mission of HDSA and individual HD families.

On March 13, HDSA CEO Louise Vetter sent an e-mail to “friends of HDSA” announcing that the organization “holds the well-being of our families, volunteers and staff as our top priority” and will therefore postpone “ALL local HDSA events (educational & fundraising) nationwide” until April 30. That complies with public health recommendations to curtail public gatherings to slow the spread of the coronavirus.

According to Vetter, HDSA still plans to hold its 35th Annual Convention in New Orleans, June 4-6, but will continue to follow the guidance from the Centers for Disease Control, World Health Organization, and state and local health agencies.

HDSA’s national headquarters in New York City is closed. However, the entire staff is working remotely and has the resources “to continue the uninterrupted support of our mission during this time,” Vetter assured.

The Huntington’s Disease Youth Organization postponed its May 2020 international congress in Glasgow, Scotland, to March 2021.

I have accepted an invitation to deliver the keynote address at the 37th National Conference of the Huntington Society of Canada in November, but have been told to hold off on reserving flights until the pandemic’s long-term effects become clear.

Visiting the afflicted

For one HD community member and blogger, Mandi, 33, the pandemic meant that on March 12 she could not visit her 58-year-old HD-stricken father, Danny, at the Missouri nursing home where he resides.

“They are locking all doors for the safety of people there,” wrote Mandi, a dedicated caregiver and herself at risk, but untested, for HD. “Was my first reaction sad I couldn’t see my dad? Sure, but I immediately checked myself. I realized my own selfish want to see my dad was tiny in comparison to keeping the people in the nursing home safe because who knew if I was a carrier since you can have it for over a week and not show symptoms.”

Mandi pointed out how the nursing home’s restriction is “terrifying for those of us with possibilities of losing family.” She wants “to do everything in my power to protect him as I always have.”

However, she concluded: “Until we really know what we are dealing with let’s just take the precautions seriously.”

Danny (left) and Mandi (family photo)

Especially resilient

With the coronavirus pandemic, the world can learn from the example of the HD community and our generous supporters.

We in the HD community, and other neurological disease groups, face relentless adversity. HD grinds down the brain, leaving the affected like my late mother unable to walk, talk, or care for themselves. Caregivers like Mandi and my late father are true “HD warriors.” 

However, because of this, we have developed a very realistic view of life.

“We are all in a race to death, but people at risk for life-shortening diseases know that their time to the finish line is painfully fast and troubled,” I wrote in 2009 in an article titled “HD: hurtling towards death.”

At the same time, we also have a special appreciation for the “preciousness of life.”

Confronting HD makes us especially resilient. I am hopeful that the HD community will successfully meet the challenges of the coronavirus pandemic and, as in facing past challenges, become even stronger.

Comedian Rod Man’s heartfelt speech, Ramona Johnston’s death remind us of urgent need to cure Huntington’s disease

In his raw, heartfelt speech in February about the devastation of Huntington’s disease in his extended family, comedian Rod “Rod Man” Thompson reminded his audience of the HD community’s urgent need for help: “We’ve got to find a cure. Any disease: you want to kick his ass.”

On April 4, the story of yet another fallen “HD warrior” drove home how the condition often strikes in the prime of life and is ultimately fatal. That night, Ramona Johnston, the wife of longtime San Diego Chargers football team public relations director and major HD fundraiser Bill Johnston, succumbed to the disease after more than 20 years of brave struggle. Diagnosed at age 39, Ramona was just 60.

“Ramona passed away last night after fighting unbelievably hard against this horrible disease,” Bill wrote on Facebook on April 5. “As much as I knew this day would come, it hurts so bad that my girl is gone. She’s the strongest, toughest, bravest person I know. One of God’s angels on earth finally has peace and is with Him in heaven.”

Introducing Rod Man

HD affects not just individuals but families. To illustrate that, as promised earlier, I’m now providing a detailed report on Rob’s important and moving February 25 keynote address to several hundred scientists, drug hunters, and advocates at the 14th Annual Huntington’s Disease Therapeutics Conference. Sponsored by CHDI Foundation, Inc., the event took place at the Parker Palm Springs hotel in Palm Springs, CA. 

A standup comedian, Rod Man was the winner of season 8 (2014) of NBC’s Last Comic Standing reality TV talent competition. He has appeared at Caesar’s Palace in Las Vegas, the Apollo Theater in New York City, and the Gibson Amphitheatre in Los Angeles, where he resides. He has also appeared in film and TV roles, and hosts his own YouTube shows.

“That’s my passion,” said the performer known as Rod Man. “Tonight, we’re going to set a different tone. I am Rod Thompson tonight.”

A native of the small Georgia town of Villa Rica, Rod was the first African-American CHDI keynoter. His family’s story underscored the fact that HD affects people of all ethnicities, as well as both sexes.

“As an African-American, I know that sometimes we don’t get the information,” Rob commented. “I’m here as a black man.”

However, he said, he recognized that HD affects his family just as it does others. He said that he aimed to “promote conversation” and awareness about HD, no matter what a person’s personal or educational background.

Rod "Rod Man" Thompson (right) exchanges laughs with leading HD researcher Steven Hersch, M.D., Ph.D., of Voyager Therapeutics, after Rod's keynote speech (photo by Gene Veritas).

The challenges families face

Rod titled his presentation “The Cycle: My Mother’s Story.” Interlacing humor with wrenching stories of HD’s debilitating physical and mental impact on his 66-year-old mother Shirley, Rod captured the many aspects of HD that families struggle with and doctors and scientists seek to alleviate.

His speech reflected once again how, as an inheritable disease, HD affects the extended family. His elder daughter prepared the slides for his talk. It included photos of Shirley and three aunts – all now in nursing homes – and a cousin also stricken with the disease.

Rob recalled how his maternal grandmother was initially misdiagnosed with cerebral palsy. Growing up, he was unaware of HD. “I just knew my grandmama was mean,” he said, referring to HD’s psychiatric and behavioral symptoms.

Before arriving in Palm Springs, Rod interviewed his sister, the primary caregiver for his mother in Villa Rica. She described details of Shirley’s daily struggles with HD, as well as the constraints it imposes on her own life.

“I understand how it affects her life,” Rod said. “She said, ‘Yes, it’s a lot to deal with.’”

Because of her “sacrifice” to care for Shirley, Rob’s sister has for now given up her own career dreams in fashion design, Rob added. “I could see the anger build in her, because she feels like, ‘If I don’t, who else is going to?’”

Rod recognized that other HD families face a similar battle. “It’s like having a child sometimes,” he said of the inability of HD people to care for themselves and the challenges faced by caregivers.

Shirley’s decline

Shirley showed symptoms before her official diagnosis in 2016, Rob explained. 

“Once they told her, she broke down and cried, because she knows from her sisters and her mama what it does,” he said.

Rod described the terrible physical, cognitive, and psychiatric decline that HD has wrought in his mother.

“I see depression and sadness about stuff that can be a misunderstanding to most people, and they’ll let it go, but she still holds on to it and harbors it,” Rod said.

Because of Shirley’s involuntary movements, the family also keeps kitchen utensils away from her to prevent her from injuring herself or others. She can no longer walk normally.

“Now it’s better for her to eat with her hands, because she’s a little shaky,” Rod explained. “Her body’s not the same.”

Inspiring the scientists

Untested, Rod and his two daughters – a college graduate and a high school student – are also at risk.

Rod and members of his extended have candid conversations about testing. However, he added, “Most people in my family are scared to get tested.” That reflects the majority attitude in the HD community. 

However, Rob hopes for a cure, hence his motivation to keynote the conference. “I appreciate what you guys do in your work day to day,” he said. “You all do admirable work. Hopefully, by telling my story, and others like me, you’ll get inspired.”

Rod received a standing ovation.

You can watch Rod’s address in the video below.

Celebrating Ramona’s life

Ramona died at Edgemoor Hospital in Santee, CA. The highly regarded public long-term care facility has cared for dozens of HD patients over the last few decades.

In early 2017, when the Chargers announced their move to Los Angeles, Bill made a gutsy, loving decision: after 38 years with the team, he quit so that Ramona could stay at Edgemoor. He visited her there each morning before heading to work.

“Everybody would make the same decision I am making if they were in my shoes,” Bill said at the time. “It’s just the situation I find myself in.” (Click here to read more.)

Bill now works for the San Diego Padres baseball team, which has supported his advocacy.

Ramona’s son Jared tested negative for HD. Untested, daughter Hayley is the vice president of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA). She and Bill continue as leading advocates in Southern California. Their efforts have raised almost $3 million for HDSA.

A Celebration of Life will take place at 1 p.m., April 17 at Skyline Church, 11330 Campo Road, La Mesa, CA. In lieu of flowers, memorial contributions may be made to HDSA or www.HelpCureHD.org.

The Johnston team at the 2014 Rock-n-Roll Marathon raising funds and awareness for HDSA. Bill has his arm around Ramona, in wheelchair. Daughter Hayley stands directly behind Bill (photo by Andrew McClanahan/PhotoRun.net).

Fear not, Huntington’s disease families – Pope Francis has our backs

In just a few hours, at a historic meeting at the Vatican, Pope Francis will offer words of encouragement to the Huntington’s disease community, aiming to make this deadly, incurable neurological disorder “hidden no more.”

Francis is scheduled to arrive at the Paul VI Audience Hall, just a few yards from St. Peter’s Basilica in Vatican City, at 11 a.m. Rome time.

The organizers of “HDdennomore, Pope Francis’s Special Audience with the Huntington’s Disease Community in Solidarity with South America,” have enlisted the pope’s leadership in removing the shame and stigma associated with HD.

The event will be streamed lived in English at www.HDdennomore.com and on the Vatican’s YouTube channel, www.youtube.com/vatican. (There will also be Vatican broadcasts in Italian, Portuguese, and Spanish.)

(Click here and here for background and details of the event).

A global meeting

The event will focus especially on four impoverished HD families from Argentina, Colombia, and Venezuela. They arrived in Rome on May 15 and have been touring the city, with some experiencing delights such as ice cream for the first time. The president of the Italian Senate gave the families a welcoming speech in the Senate chamber.

More than 30 HD family members have also arrived from Brazil.

Open to the entire HD community, HDdennomore has drawn advocates and supporters from more than 20 countries.

Gene Veritas (aka Kenneth P. Serbin) in St. Peter's Square (family photo)

A commitment to the marginalized

I arrived in Rome with my family late on the night of May 10, feeling great anticipation about the papal audience.

On the plane, I continued reading historian Austen Ivereigh’s biography of Francis, The Great Reformer: Francis and the Making of a Radical Pope.

“Francis’s deep commitment to the poor and marginalized has increased my expectation that he will lift the spirits of the HD community and help pave the way for new and better ways of caring for the HD-stricken and their families,” I reflected in a May 11 Facebook posting. “No matter what our faith, Francis’s words echo the struggle of the HD community to care for our loved ones and to make this disease ‘hidden no more.’”

A graffiti artist's rendition of Pope Francis as Superman (photo by Gene Veritas)

Getting ready for the big moment

We arrived more than a week before the audience in order to become acclimated to Rome and to recover from the nine-hour jet lag between San Diego and Italy. I hope I’ve minimized the risk to my brain.

HDdennomore will start at the moment I would normally be going to bed in California. Huntington’s disease sufferers experience problems with their circadian rhythm, which regulates sleep and other bodily functions. Researchers recommend that HD people and even HD gene carriers like me avoid jet lag and go to sleep around the same time each night.

My wife Regina, daughter Bianca, and I have spent part of the time leisurely touring Rome, a bustling yet highly welcoming city with some of the world’s greatest artistic and archeological treasures, a culinary paradise, and, of course, the seat of world Catholicism. Regina's mother Lourdes has also joined us from Rio de Janeiro.

Now we’re getting ready for the big moment: we will meet Francis personally and hope to share with him our family’s HD struggles.

Regina Serbin (left), Bianca Serbin, Maria de Lourdes Alves Barros (Regina's mother), and Gene Veritas at the Roman Forum (family photo)

Forging important new bonds

This afternoon I visited the Passionist fathers’ monastery, where the Argentine, Colombian, and Venezuelan HD families are lodging, as well as some of the Brazilians.

After greetings and introductions, I met with Associação Brasil Huntington (ABH) president Vita Aguiar de Oliveira and several HD families to answer questions about the historic Ionis Pharmaceuticals gene-silencing clinical trial. We discussed the difficult challenges facing HD families such as genetic testing.

We also began planning for ways to take advantage of the “onda do papa,” the “papal wave” of publicity and renewed advocacy hopefully to be initiated by the audience with Francis.

One of the participants, Samila Cristina, pointed out the importance of a network of support in families’ efforts to cope with HD. (Her family won an ABH drawing that provided a patient and caregiver with airfare to Rome.)

Indeed, after the 90-minute encounter I felt as if I had attended my local HD support group in San Diego: once again I recalled the fact that I carry the deadly HD gene, but I also felt strength from the new bonds forged with these fellow members of the extended HD family.

Afterwords Samila’s HD-afflicted mother Teresinha presented me with two ABH/HDdennomore t-shirts.

Above, Gene Veritas (in green shirt) and the Brazilian HD families at the Passionist fathers monastery. Below, Teresinha presents Gene Veritas with an ABH/HDdennomore t-shirt (personal photos).

Entering the spotlight, inspiring the world

As the moment approaches for the HD community to enter the world spotlight, it’s time to overcome the fear that has blocked our community from coping with and finding the cure to HD.

“We face a myriad of challenges, including genetic testing, family planning, family tensions, shame, the devastating symptoms, and the huge caregiving burden,” I wrote in a May 15 Facebook posting. “Be not afraid! Pope Francis has our backs! HD must be ‘hidden no more!’”

With so many unable to attend because of the distance, cost, and challenges of HD, I am enormously privileged to have been invited to the audience.

On Facebook, I also recalled how another, non-HD-related health crisis in our family in late April nearly led me to cancel our trip.

As that crisis was successfully resolved, I was reminded of the many other people suffering from difficult diseases, including genetic disorders. My family and I will take a small religious keepsake to the papal audience for the friend of a friend in the U.S., a young woman who suffers from two rare genetic disorders.

Indeed, I hope that Pope Francis’s gesture to the Huntington’s community can inspire those suffering from all diseases to strive for a world where care and cure trump stigma and, perhaps even worse, indifference.

(My trip to Rome was made possible by the College of Arts and Sciences, the Frances G. Harpst Center for Catholic Thought and Culture, the International Center, and the Department of History of the University of San Diego. I am grateful for the institutional and moral support of my colleagues and students.)

Pope Francis I to meet with victims of Huntington’s disease, a first for a world leader

In an unprecedented encounter, the first for any pope or world leader, Pope Francis I on May 18 will meet with Huntington’s disease sufferers at the Vatican, bringing new attention to this affliction.

The key papal guests will hail from Latin America, the pope’s home region, the area with the world’s most Catholics, and a key locus of the quest for the HD gene from the 1970s to the 1990s.

Several HD-affected HD individuals (with both juvenile and adult onset), three at-risk relatives, and other relatives and caregivers – a total of 16 people – will travel to Rome from Colombia, Venezuela, and Argentina, the pope’s birthplace.

The news was announced today via e-mail by an international coalition of patient advocates and organizations: "save the date for the largest global gathering of the Huntington's disease community!"

The coalition includes Elena Cattaneo, Ph.D., a prominent HD scientist and senator-for-life in Italy; Factor-H, a humanitarian project founded by HD researchers Claudia Perandones, M.D., Ph.D., and Ignacio Muñoz-Sanjuan, Ph.D.; global HD advocate Charles Sabine; and the Huntington’s Disease Society of America (HDSA).

Many physicians in Latin America laid the groundwork for the event through their long-term dedication to local HD communities and assistance in selecting the families.

The announcement comes, coincidentally, on the fourth anniversary of Francis’s election as the first pope from the Americas.

“What I want him to say, in some way, is that the disease should not be hidden anymore,” Sabine, an HD gene carrier, told me. “That’s the theme of the event: that people should not feel any shame or stigma about the disease.”

“This is a dream which has come true,” Dr. Perandones affirmed in a written response to questions about the event. “After working for nearly 20 years in Latin America in order to try to improve the quality of life of patients, and feeling so alone in this endeavor so many times, it seems unbelievable that the pope will receive us.”

Pope Francis I (above, photo by Argentine Presidency/Wikimedia) and the Soto family of Barranquitas, Venezuela, after receiving the invitation to the papal audience in Rome (below, photo courtesy of Dr. Ernesto Solis)

Putting HD on the global stage

The South American HD families will be joined by three dozen advocates and HD family members from other countries, including HDSA CEO Louise Vetter and leading American HD advocate Katie Moser, the 2010 HDSA Person of the Year. Latin American Catholic leaders will also take part.

“As a global leader, Pope Francis has the power to elevate the conversation about HD to an international stage with a call for compassion – and action,” Vetter said.

I was also invited to meet with the pope, because of my interlocking connections with the Catholic Church, Latin America, and HD advocacy. My mother died of HD, and I carry the genetic defect.

I am thrilled! I consider it a privilege and a responsibility to attend, and expect to bring my wife Regina and teenage daughter Bianca. We will represent the HD community in both the U.S. and Brazil, Regina’s homeland. At least three HD-affected individuals will attend from Brazil, according to advocates there.

(Portuguese speakers can watch my report in that language in the video at the end of this article.)

Help desperately needed

Scientists and advocates began discussing an appeal for the Church to help – and then a papal audience – in 2015.

Dr. Perandones, a clinical geneticist with the National Administration of Laboratories and Institutes of Health in Argentina, and Dr. Muñoz-Sanjuan, of Spain, a vice president at CHDI Foundation, Inc., the nonprofit virtual biotech dedicated solely to the development of HD treatments, first raised the idea of seeking Church support for Venezuela’s isolated HD people during a February 2015 CHDI conference. Talking with Sabine and Senator Cattaneo, Drs. Perandones and Muñoz-Sanjuan said that those families desperately needed help.

With aiding those people in mind, Sabine, a native of England, and Senator Cattaneo came up with idea for a papal audience in fall 2015 after Sabine saw a man with Parkinson’s disease have his picture taken with Francis and also learned the poignant story of an HD-affected teen from Buenos Aires. Sabine and the senator found no “reference anywhere by any pope to Huntington’s disease,” he explained.

Thanks to Cattaneo’s connections and the Vatican’s receptivity, they were able to schedule the papal audience. Now, Sabine says of the upcoming meeting, “It is perhaps one of the most historic moments in the history of the HD community.”

According to Sabine, it will mark the first time that any world leader, including a U.S. president, will meet with HD families.

Charles Sabine (above, photo by Gene Veritas, aka Kenneth P. Serbin) and Senator Elena Cattaneo (below, photo from Cattaneo Lab)

A major opportunity to overcome shame, stigma

Sabine, a former foreign correspondent for NBC News, has pursued activism since the mid-1990s, without being yet symptomatic. His father died of HD, and an older brother has the disease.

“I had spent a lot of time working for NBC at the Vatican,” he said. “I know that the pope is the hardest person on the planet to get to – much harder than the American president.”

By blessing and speaking to HD-afflicted families publicly, Francis can make a “profound difference” in combatting the shame and stigma surrounding HD, Sabine added.

“We want as much press on this as possible,” he continued. “We want to engage as many people as possible around the world, not just Catholics, to make this into a larger sum than the parts.”

“Furthermore, we hope this will lead to action, both by the Catholic Church, with its strong presence in Latin America, as well as from local and national institutions,” Dr. Muñoz-Sanjuan wrote in an e-mail.

The public event will take place in a 7,000-seat auditorium, where attendees can observe the pope’s interaction with the South American families and HD advocates. Event organizers want as many representatives as possible from the HD community to attend.

“Anyone can go,” Sabine emphasized. “They don’t even need to be HD-affected. They might just care about HD."

The announcement made today by the international HD coalition; click on image to view larger (photo courtesy of HDSA).

A humanitarian endeavor

The organizers also hope the meeting galvanizes the HD community worldwide. Members of groups such as the global Huntington’s Disease Youth Organization could meet beforehand and go to the event together, Sabine suggested. Other events in Rome will celebrate the unity of the HD movement and solidarity with the plight of Latin American HD communities.

All attendees are required to register on the event’s official website, HDdennomore.com, by May 5. The URL means “HD Hidden No More,” a theme of the papal event linked to Sabine’s previous awareness campaign in the UK Parliament.

The site will provide information on hotels, accommodations for special needs of the affected, and more.

Noting the “immense pressure” on Francis I from ultra-conservative Catholics because of his purported liberal stance, Sabine said that Senator Cattaneo and her staff have stressed the non-political nature of the HD event.

“It’s a humanitarian one,” he said. “It’s a pastoral event. This is about regarding people with compassion and humanity. This pope has shown humanitarian credentials unlike any other.”

South America’s HD-affected: deep struggles

The papal event builds on work by Factor-H, a small nonprofit organization, to improve the living conditions in the Lake Maracaibo region of Venezuela, and other sites where poor HD families cluster. Many HD families in the region live in dire conditions. In some clusters, many generations of intermarriage mean many families have passed on the genetic disease.

Maracaibo has played a key role in HD science. Columbia University scientist Nancy Wexler, Ph.D., started the search for the HD gene among Maracaibo HD families in the 1970s. In 1993, the HD gene was discovered. It was one of the first disease genes to be identified. This research

helped stimulate the Human Genome Project of the 1990s. Dr. Wexler also was invited to meet the pope, Sabine said.

“Poverty and disease are a terrible combination,” wrote Dr. Muñoz-Sanjuan, who has taken aid to Maracaibo and other communities. “Not everyone in Latin America with HD is poor. However, the main clusters in Venezuela and Colombia are very poor, and neglected. That’s why we are focusing on these clusters.”

“These are people living maybe in families of 16 in a space the size of an American garage on stilts on a lake,” Sabine observed. “No electricity. No running water. Nothing. It was so clear that there were so many people like the people at Lake Maracaibo who are affected by the disease and who have never had any kind of recognition from their respective governments or churches.”

Sabine said he hoped the Vatican event will empower Catholic HD families everywhere to seek assistance from their local clergy in raising awareness about HD and alleviating the social burden of the disease.

Dr. Ignacio Muñoz-Sanjuan (seated) with Colombian children at risk for HD (personal photo)

Preparing the logistics

Every HD family knows the extremely difficult challenge of travel for affected individuals, whose symptoms include constant involuntary movements, loss of balance, and cognitive decline. Many require wheelchairs.

To underwrite the cost of the enormously complex task of transporting the HD families to Rome, Sabine raised $100,000 from Israel-based Teva Pharmaceutical Industries Ltd. and $50,000 from the U.S.-based, HD-related Griffin Foundation.

Almost all of the South American travelers must get their first-ever passports, and in some cases even birth certificates.

The Vatican is helping to speed the acquisition of travel documents and to prepare special accommodations for the families, including lodging at a monastery near the Vatican instead of a hotel.

“We felt they would be more comfortable staying all together in a quiet and peaceful place,” Dr. Muñoz-Sanjuan noted. “We assumed that they will experience some culture shock and wanted for them to be at ease during their stay and make the experience more personable.”

Physicians will accompany the families.

A lonely HD teen in Buenos Aires

On January 6, the Feast of the Epiphany on the Catholic calendar (the day the Christ child was visited by three kings, according to the Bible), each of the South Americans received a red envelope from the Vatican with the invitation to meet with Francis. (Video recordings of these moments will become available at HDdennomore.com.)

One was 15-year-old Brenda, who lives in the greater Buenos Aires area, where Francis served as archbishop. She has juvenile HD, which has severely hampered her ability to speak and learn. She communicates mainly by texting on her cell phone.

“The children don’t play with her, so she’s very lonely,” Sabine said. “She has no friends, because they’re afraid of catching HD. The local school wouldn’t give her access to a laptop, because they said there’s not much point, because she doesn’t have long to live.”

“Brenda is my patient and I have a great affection to her,” Dr. Perandones wrote. “She is very clever and sensitive. We have a great connection.”

According to Dr. Perandones, Brenda and her father - from whom she inherited HD - lived with his sister, Brenda’s aunt, whom she calls “mom.”

“A major concern for the aunt at the time was the fact that Brenda and her father shared the bedroom, and his movements during the night scared Brenda a lot,” Dr. Perandones recalled in an e-mail to supporters about Brenda’s reaction to the papal invitation.

To lift the family’s spirits and improve their living situation, Drs. Perandones and Muñoz-Sanjuan raised funds to make a heartfelt “Christmas for Brenda.” That resulted in the remodeling of the aunt’s home, including a new room for Brenda, a full bathroom, and a recreational area.

“Regrettably, Brenda’s father’s health gradually deteriorated and last year, on the day Brenda turned 15, he passed away,” Dr. Perandones wrote. (For girls turning 15 in Latin America, the quinceañera is typically a joyous passage to womanhood.)

Brenda and her aunt (personal photo)

A turning point for HD community

Sabine said “Brenda’s Christmas” helped inspire the idea of a papal audience.

Dr. Perandones, who describes herself as “totally Catholic,” met Francis (then Archbishop Jorge Bergoglio) before his papal election through her support of a group advocating for victims of human trafficking in Argentina. He “always supported” this effort, she recalled in her written response to my questions.

“Many indigent individuals living in the streets of Buenos Aires have neurological and mental health conditions, including Huntington’s disease,” she added. “Bergoglio was interested in this issue and gave his support to start a Homeless Rescue Program."

Dr. Perandones hopes the meeting will make HD move visible and attune others to HD families’ regular difficulties and challenges.

“I think that the meeting with the pope will be a turning point for the HD community globally and particularly in Latin America,” she stated.

In addition to Brenda and her aunt, the papal invitees include HD families from the towns of San Luís and Barranquitas in Venezuela’s Maracaibo region and from the city of Medellín and the small town of El Difícil in Colombia.

Brenda flanked by Dr. Claudia Perandones and Academy Award winner Eugenio Zanetti, a supporter of the HD cause, after Brenda received news of the papal invitation (personal photo).

A testament to the world

Rooted in Christian love and compassion, Pope Francis’s meeting with the HD-affected of South America should reflect the Church’s historic mission of aiding the sick and defenseless. With 1.27 billion Catholics and hundreds of thousands of priests, nuns, and other personnel, the Church runs an enormous, vital network of charitable and social-service entities that could have a significant impact on HD.

With the biomedical revolution, the Church has sought to both apply and adapt its 2,000-year-old moral and theological tradition to today’s bioethical challenges.

The Huntington’s disease community stands on the bioethical frontier. HD families contribute to advances in neurological and rare-disease research, and they have pioneered ways of dealing with the impact of disease such as discrimination, disability, decisions about genetic testing, family unity, caregiving, suicide, and end-of-life care.

The May 18 meeting with Pope Francis will allow the HD community to provide a testament to the world of human perseverance and solidarity and, ultimately, the need to alleviate and cure devastating diseases.

“Those suffering with HD and living in extreme poverty need urgent help to lead a life of dignity and hope,” Dr. Ignacio Muñoz-Sanjuan asserted.

I hope that Francis’s Pope’s humanitarian gesture serves as a message to the church and to world opinion leaders to address the critical need of ameliorating Huntington’s disease.

Janeth Mosquera, of the Colombian HD patient association and Factor-H, hugs an HD man in the town of Choco in the Colombian jungle, April 2016, after delivering assistance (personal photo).