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.

 

‘Crying a few million tears’ for the fallen victims of Huntington’s disease

Huntington’s disease relentlessly attacks the brains of its victims and in other ways wearies many of us involved: advocates, caregivers, gene carriers like myself awaiting onset, young people pondering genetic testing.

Knowing at 56 how fortunate I am to have remained healthy beyond my deceased mother’s age of onset, I took a “break” from advocacy over the summer. (Click here to read more).

However, on October 24 the hard reality of HD hit home once again.

Responding to a request from the Huntington’s Disease Society of America (HDSA) for information on this blog’s impact in the “landscape of HD communication,” that morning I wrote a long e-mail detailing how At Risk for Huntington’s Disease has reached thousands of people via both the web and Facebook.

Since I began writing in January 2005, the blog’s 230 articles have garnered more than 650,000 page views. More than 3,200 Facebook friends also have access to the blog in 60 HD-related groups.

“I think one of the most important aspects of the blog has been the wide range of topics it has covered: my family's struggles with the disease (mother dying, me testing positive, [my daughter] testing negative, etc.), the many social implications of the disease, advocacy issues, and the search for treatments,” I observed.

Reviewing the blog’s history reminded me of many painful moments in my struggle and of the HD community's collective suffering.

A nervous stumble

That afternoon, I had my annual HD checkup with a neurologist.

As with past checkups, in the hours before the visit, I became apprehensive about my performance on the various neurological tests.

One involves walking heel-to-toe along a straight line. This year I began that test with a bit of a nervous stumble. I wondered if that might be an early sign of onset.

I regained my balance and successfully completed the walk. I was going to suggest to the doctor that I repeat it, but she told me that I had done fine.

The other tests also went well.

Fortunately, she once again declared me symptom-free.

Tensing up at support group

Naturally, I felt greatly relieved.

However, I faced yet another challenging HD moment that evening: the annual research update at our local support group, from Jody Corey-Bloom, M.D., Ph.D., the director of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego.

Each year I record Dr. Corey-Bloom’s talk, later posted here and on Facebook. Striving to produce a video of good quality, I tensed up as I focused in and out and turned the camera to follow Dr. Corey-Bloom’s movements. This was vital information for the HD community.

With the rest of the audience, I intently listened to her presentation of the latest research breakthroughs and news of the crucial clinical trials that provide hope for effective treatments and perhaps even a cure. The update included a detailed discussion of the historic gene-silencing Phase I trial by Ionis Pharmaceuticals, Inc. (Click here to read more about the Ionis trial.)

Given the many projects in progress, Dr. Corey-Bloom spoke for 90 minutes, her longest update ever.

Seeing HD-affected support group attendees reminded me of my good fortune but also of the inevitability of my own onset, if a treatment isn’t found.

You can watch Dr. Corey-Bloom’s update in the video below.

Update on Huntington’s Disease Research 2016: A Presentation by Dr. Jody Corey-Bloom from Gene Veritas on Vimeo.

‘A life-long Holocaust’

Still pondering the exhausting moments of October 24, the next morning I was jolted by a powerful comment on my September 15 article "Dreams for a better future: an opportunity we Huntington’s disease people and our families are denied."

The words speak for themselves:

I am in nearly the same situation as the author of this blog. I am now 59 years old and will be 60 in February. Huntington's Disease killed my father & half my family. My sister is dying now in an extremely horrible case where she is burning so many calories that she looks like a skeleton. I have actually had continual muscle contractions all my life since I was about 25 years old, but nothing else. I've been able to live my life and work and function normally (although, I never married or had children). I've wondered my entire life when it would happen to me. Now, at almost 60, I wonder if this is it, and this is all that will happen, and I wonder why. Why did it kill so many people in my family and not me?

I can't really imagine a more horrible experience in a family. I had a doctor once tell me that he had never seen a single person come out of a Huntington's family who wasn't emotionally damaged for life. He described it as a kind of "life-long Holocaust" where you live your entire life watching one persona after another die the most horrible deaths, and unlike the Jews, you don't have anyone you can blame.

I have cried a few million tears in my life, but now approaching 60, I am able to see some things I could not have seen years ago. I look at myself and my family, and I realize that none of us are the people we would have been without this disease. We all became so much "more." We all learned to truly "see" people, to feel empathy with all people suffering, to appreciate all the small moments and the good things in life. We all embarked on a life-long journey to find meaning and to understand our place and purpose in this world. And, when I look around and see all the various kinds of suffering in this world, it makes me think that maybe this has always been the reason and the purpose for it – to cause us to become "more."

These words not only rekindled my desire to defeat HD; most importantly, they also inspired compassion.

Sarah falls to HD

A diagnosis for Huntington’s disease forever changes the lives of affected individuals and their families.

Without an effective treatment, thousands of people around the world continue to succumb to HD.

On October 17, Huntington’s took the life of 37-year-old Sarah Brook of Tamworth, England.

Many in the HD community became familiar with Sarah’s struggle on “Sarah’s Dream,” a Facebook page run by her mother Gail and stepfather Jeff. “Sarah’s Dream” is also the name of a motorcycle the family used in the effort to raise funds and awareness. According to Gail, Sarah’s first symptoms appeared in her early twenties. Sarah's father died of HD at the age of 35.

“This is the saddest time of my life,” Gail wrote on Facebook. “Nothing could compare to the loss and heartbreak I feel. […] It's the wrong way round, this shouldn't be happening. I can't bear the thought that I'll never see her again. I want to hold her so much.”

Sarah’s funeral took place on November 3. Her body was cremated.

“We've put her near the TV,” Gail wrote of Sarah’s ashes, held in an urn. “She's always liked her telly, and [we] will scatter them in the place she chose, when we feel ready.

Despite their enormous loss, Gail and Jeff will continue in the fight against HD.

“We've been married for 33 years and he adopted Sarah, knowing that she was at risk of HD,” Gail wrote me in a Facebook message. “We have agreed to carry on with Sarah's Dream, in memory of Sarah.”

We need to find a way to wipe away the tears of HD. Perhaps we can be heartened by the profound dedication to the cause displayed by Sarah's family.

Above, a collage of photos of Sarah Brook. Below, Jeff Brook riding Sarah's Dream (family photos).