This Thanksgiving, let’s show gratitude for disease researchers and drug hunters

This Thanksgiving, let’s pause to show gratitude for the many researchers and drug developers in America and around the world who strive to treat diseases and improve the quality of health for all.

As we await the first effective treatment for one of the world’s cruelest maladies, we in the Huntington’s disease community feel especially grateful for the efforts of the scientific, medical, and biotech communities to bring relief from HD’s devastating cognitive, motor, and behavioral symptoms.

Our cause is urgent: HD strikes in the prime of life and is ultimately fatal. Stopping HD would mark a historic step in the quest to conquer brain diseases.

As a presymptomatic carrier of the HD gene, I found inspiration for Thanksgiving 2016 in the powerful speech last February by HD advocates Astri Arnesen and Svein Olaf Olsen at the 11th Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc.

Leaders of the HD cause in their native Norway and in the European Huntington Association (EHA), this indomitable couple bared their souls about marital commitment, denial, genetic testing, and raising a family.

Their goal: to motivate – and demonstrate appreciation for – the audience of more than 200 world-class HD researchers, physicians, and drug company executives.

Svein Olaf Olsen (left) and Asti Arnesen at the 11 Annual HD Therapeutics Conference. Astri is president of the EHA and Svein Olaf a member at large of its board (photo by Gene Veritas, aka Kenneth P. Serbin)

‘No questions asked’

Astri and Svein Olaf titled their presentation “HD – more than a disease!”

“HD is much more than a disease,” Astri said leading off. “It affects every part of your life, and it’s really a part of who you are.”

Astri’s family traced back HD to a maternal great-grandmother. Her maternal grandfather and her mother also developed the disease.

However, as is so often the case in HD, nobody in Astri’s family discussed the condition, even though they witnessed relatives’ debilitating symptoms each day.

“You just sensed: no questions should be asked,” Astri explained. “My mother grew up in this family.”

A special education teacher, Astri in the 1980s fell in love with a co-worker, Svein Olaf. She divorced her husband – a brief marriage she had entered to escape caring for her HD-stricken mother – and started a relationship with Svein Olaf.

‘The greatest gift of all’

Svein Olaf knew of Astri’s 50-50 chance of carrying the HD gene. However, the young couple didn’t discuss HD much. Without Astri getting tested, they had two daughters in the early 1990s, before the discovery of the huntingtin gene in 1993 and the development of a definitive genetic test.

After their older daughter Jannike turned 18 in 2009, she wanted to get tested for HD.

“I said to her, ‘That’s not possible,’” Astri said. “‘I could not by any means let you go through that. I will do the test [first].’ So the day before Christmas, I called the doctor.”

The process took weeks. The waiting and uncertainty were so traumatic, Svein Olaf told the audience, that afterwards he could not “remember anything about the tests. Nothing.”

When the couple visited the clinic to obtain the results, the doctor practically came running to Astri. “You don’t have the gene!” she exclaimed.

Svein Olaf crashed his hand on a table. At that moment, he vowed to marry Astri, something they had planned for years but always put off.

“It was really the most amazing thing to come home and tell our daughters that there is no risk anymore,” Astri remembered. “That was really for me the most important thing. You can handle your own situation, but knowing that I hadn’t passed it on to them was really the greatest gift of all.”

The hope of science

Since then the couple have dedicated themselves to the HD cause – in part because Astri’s youngest sibling, Arne Dag, was stricken with HD.

“He was a brilliant young man,” Astri said. “He was really teaching my father, an engineer, how to fix the car when he was six years old. So he was a future engineer coming up. But in his early 20s, he’s starting to have trouble. He doesn’t manage to finish his studies.”

In a typical symptom of HD, Arne Dag became deeply depressed. He was formally diagnosed in 2005.

At the 2010 meeting of the European Medicines Agency (the counterpart of the U.S. Food and Drug Administration) in London, Astri showed a video of a short interview she did with her brother.

In the clip, Arne Dag struggles to speak, and his body twists and turns because of chorea, the involuntary movements caused by HD.

Arne Dag tells Astri that he wants to participate in a clinical trial as soon as possible. She asks him about his hopes for the future.

“I hope that science is on my side,” he says, laughing.

Participants at the 11th Annual HD Therapeutics Conference, Palm Springs, CA, February 2016 (photo by Gene Veritas)

Thanking the researchers

Arne Dag died in April 2015 at the age of 46.

“But he hoped,” Astri told the conference attendees. “And that was really important in his life. He hoped for the hard work you [scientists] are doing to give results for him and for us.”

As a slide showing infants appeared in the background, she added: “And that’s what we are fighting for, and that’s why we are so involved in this work. Because now, it’s not about him. It’s not about me. It’s about all these lovely children and grown-ups living with a risk, living with the gene, and who really put their hope on you and your work.

“And no matter how long it takes, that is so important in our daily lives. Knowing that you go to work really makes our day easier. For me, hope has really been my way of coping and dealing with it, and it is for a lot of us. We are many, many out there who support you, who need you, and who are waiting for results.

“So we want to thank you so much. It’s amazing to see how many fantastic, brilliant researchers that are in this field. We are so grateful for that.”

Happy Thanksgiving!

You can watch Astri and Svein Olaf’s presentation in the video below.

 

Engaging a ‘scared population’ of Huntington’s disease families by respecting their journeys

The number of clinical trials for Huntington’s disease treatments has increased exponentially, pushing up the demand for volunteers. Now advocates ask a pressing question: how to inspire more affected families and individuals to participate?

I have addressed this theme with increased frequency in recent years, as in my last two articles (click here and here to read more). As a carrier of the devastating HD mutation who saw his mother succumb to the disease, I feel in my gut the urgency to involve other members of the community.

“If no patients or gene-positive people show up for trial participation there will be no novel treatments, ever!” Daniel P. van Kammen, M.D., Ph.D., wrote in an e-mail in response to my articles.

For several years, I have maintained a dialogue on this topic with Dr. van Kammen, from 2007-2011 the chief medical officer for CHDI Foundation, Inc., the nonprofit virtual biotech focused exclusively on developing HD treatments. A professor emeritus at the University of Pittsburgh, Dr. van Kammen currently serves as an independent consultant for central nervous system (CNS) clinical trial development.

“The notion that if you build it they will show up, just does not work!” Dr. van Kammen continued. “In general only 5% of people diagnostically eligible for drug development study participation, do so. This is fine for a large population with Alzheimer’s. Not for the HD community either at risk or diagnosed. So people have to come forward.”

As he indicated, there’s a relatively small number of HD-affected individuals, estimated at 30,000 in the U.S. By contrast, as many as 5 million Americans over age 65 may have Alzheimer’s.

Beyond that, a good number of HD-affected individuals cannot participate in clinical trials because of so-called exclusion/inclusion criteria. (I’ll write about this issue more in a future article.) So that leaves an even smaller number of potential trial subjects.

The Enroll-HD program, the global platform, research project, and family registry aimed at facilitating clinical trials and the discovery of treatments, recently marked its 5,000th registrant but needs as many as 25,000 more volunteers.

People deciding at their own pace

Over my nearly two decades of advocacy – my mother was diagnosed in 1995 – I have learned that it’s important to respect the unique journey of each individual touched by HD. Without that respect, we cannot begin to engage what Dr. van Kammen described as a “scared population.”

From a pure research standpoint, the more at-risk people who test for the HD gene, the better. Despite the enormous psychological burden of knowing that I will develop HD, I don’t regret undergoing genetic testing.

I often wish that more individuals from the untested at-risk pool – the vast majority of those people don’t  get tested – would also test and/or participate in programs such as Enroll-HD, which doesn't require that people learn their genetic status.

But then I remember how I wanted to get tested immediately after learning of my mother’s diagnosis. I postponed the decision after receiving advice regarding the discriminatory consequences of testing, and, more than three years later, bit the genetic bullet because my wife and I wanted to know my status before starting a family. Six months later our daughter tested negative for HD in the womb.

What a journey!

When I meet people new to HD, I am aware that I can offer ample advice based on experience. However, I stick to the basics, allowing them to ask questions and share their stories and fears at their own pace. I remind myself that testing for HD is often an extremely trying process, with implications for the extended family. This personal decision requires time and reflection.

People new to HD are embarking on their own journeys based on their backgrounds and particular point in life.

The same respectful approach applies in encouraging people to attend a support group, visit the local HD clinic, participate in fundraising activities, and enrolling in studies and clinical trials.

The dynamics can be complex. In the face of HD, many families close ranks. However, many split, beset by fear, denial, and the stigma of HD.

Activists’ self-respect

I have received enormous respect from my fellow HD advocates.

We activists must always remember to respect our own journeys.

At 55, I have passed the age of my mother’s HD onset. Each day without symptoms is a gift.

To maintain self-respect, I must allay guilt about doing too little for the cause. I especially feel this way when missing a support group meeting or a local event of the Huntington’s Disease Society of America (HDSA).

Lately I have also faced advocacy fatigue. However, seeing other, often less fortunate families suffer from HD – like the young man holding his HD-stricken grandmother or the family with members stricken by both adult-onset HD and juvenile HD – leads me to gird myself again for the fight. On April 11, at an HDSA educational event at the William W. Backus Hospital in Norwich, CT, I will share my story and the hope offered by the upcoming gene-silencing clinical trial planned by Isis Pharmaceuticals, Inc., and Roche.

In re-engaging, I remind myself that my journey is unique, too, with my own particular moments and needs.

Enjoying the present, planning the future

Twenty years into the cause and ever closer to disease onset, I need to focus on my health, enjoying life, and my family.

With a sabbatical from teaching duties, I am also writing a long-gestating book on Brazilian politics that I had partially put aside because of my work as departmental chair the past five and a half years and my developing interest in the history of science, technology, and medicine.

As our daughter approaches college age and my wife and I initiate conversations about retirement plans, we are also focusing on shoring up the family finances. As all HD families know, losing a working family member to the disease not only severely reduces family income but also creates a caregiving burden very costly in both time and money.

Luckily neither of lost our jobs in the Great Recession, but like many Americans in the eroding middle class we have received little or no increase in income during the recovery.

At 55, I also face the normal challenges of aging. Over the past eight months I have struggled with a nagging elbow pain that has prevented me from swimming, my preferred exercise and excellent for cardiovascular and brain health. Luckily, with my doctor’s okay, I am back swimming, although the pain continues. Because of pain elsewhere in the body, I have spent many an hour at physical and occupational therapy sessions.

I want to remain as limber as possible to facilitate coping with HD symptoms (more on this in a future article).

I also continue to exercise my mind. As I wrote to an old friend regarding the recent tenth anniversary of this blog and its 200th article, “Writing for survival is my motto.”

Affirming the good in our lives

Like many others in the HD community, my journey has deepened my search for spiritual meaning.

I have added another book to my morning meditation, Gratitude Works!, a book about gratitude journaling by Robert A. Emmons.

Writing regularly about the positive experiences in our lives promotes a shift in awareness from “what we are lacking to the abundance that surrounds us,” Emmons writes.

“Gratitude leads us to affirm and acknowledge the good things in our lives,” he adds.

Our community has immense suffering, but is also has immense good.

I am grateful for remaining asymptomatic today, for the many people bravely struggling to come to terms with HD, and for the great respect the members of the HD community have for each other as we live our unique moments together.

I’ll be even more grateful when more people enroll in clinical trials. Yes, we may be a “scared population.” But we may also be a “sacred population,” one dedicated to a deeper purpose, helping to conquer this awful disease.