Five years ago, in December 2015, John and I visited the HDSA UC Davis HDSA Center of Excellence to start the process to learn John’s gene status for Huntington’s disease. Mara Sifry-Platt, genetic counselor recorded family history, Dr. Vicki Wheelock physically examined John and a psychiatrist evaluated his mental health.
John and I had lived with HOPE since 1979, when Lora, Marcia and Cindy, discovered their mother had Huntington’s disease and they each had a 5/50 chance on inheriting the mutated huntingtin gene.
On January 16, 2016, after a six (6) week wait for the results, John and I sat anxiously in a room at UC Davis Center of Excellence holding hands. We held our breath as Dr. Wheelock gave us the answer we had hoped for. John was negative!!!!!It was the happiest day of our lives!
There are no words when talking about Huntington’s disease (HD) and Juvenile Huntington’s disease and the devastation it causes in a HD family for generations. It is truly the cruelest disease on the planet and causes great suffering and anxiety that can only be imaged if it is in your family.
Because children from a parent with HD have a 50/50 chance of inheriting the disease, approximately 200,000-250,000 live at risk for the disease. Since it is a rare disease, 41,000 American’s live with the disease and, unfortunately, it is progressive and has a 10-20 year prognosis.
A HD family deals with high emotional stress, financial devastation, anticipator grief for years, and multiple family members may have the disease at the same time.
Author Therese Crutcher-Marin
The good news is that there are promising clinical trials being conducted around the world. I’m an Huntington’s disease advocate andmy plea to you today is to praythe trials will have positive outcomes, and the U.S. Orphan Drug Act (ODA) will be requested and theFDA(Food and Drug Administration) will quickly approve it.
Over the past few years, I’ve seen Huntington’s disease (HD) featured on multiple television shows, i.e. House, ER, Call the Midwife, and on local and national news channels.
My latest discovery of an article on HD was in Magnolia Journal, inspiration for life and home. A friend who subscribes to the magazine told me about the article so I bought a copy. The theme for the summer edition is, A look at Risk….choosing courage in the face of the unknown. This statement rings true for those living at risk for HD. Info on Magnolia Journal
After doing a little digging, I discovered Hunter Ward, the young man in the article that is at risk for HD, works at the magazine. I applaud he and his wife for sharing their story because it is not always easy.
To show my gratitude for including the story, I wrote a thank you letter to Chip and Joanna Gaines, HGTV show Fixer Upper, who produce the magazine, and sent them a copy of my book, Watching Their Dance, which is very similar to Maddie and Hunter Ward story.
On July 3rd, 2020, ABC News’ Linsey Davis follows two families grappling with the rare genetic disorder Huntington’s disease (HD), compared to ALS, Parkinson’s disease and Alzheimer’s disease all in one. (if video didn’t transfer, click here to watch the video: https://youtu.be/USwMplVl5vQ)
I was ecstatic when I saw the video on ABC. I don’t know how this came about but I bet the nonprofit, Huntington’s Disease Society of America (HDSA) had something to do with it!
Thank you ABC News.
The more awareness created about HD, especially by news organization like ABC, the more people will know about this horrific genetic disease with NO CURE. What-is-Huntington’s Disease?
HDSA and many other nonprofits are being challenged due to COVID-19. Most of HDSA fundraising events were changed to VIRTUAL and with so much uncertainty in our lives, donations are down. To make a donation to HDSA and help in the fight against Huntington’s disease, click here HDSA-Make a Donation
Author Therese Crutcher-Marin Book Signing in Auburn CA
Thank you for reading my blog. I’m an HD advocate, Chair for the HDSA San Francisco Bay Area Affiliate, a blogger and an author of the nonfiction book, Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s. 100% of the profits are donated to HDSA.
Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of inheriting the faulty gene. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.
The symptoms of HD are described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.
There is NO CURE for Huntington’s disease or Juvenile Huntington’s disease.
For more information and resources, please visit http://www.HDSA.org. The Huntington’s Disease Society of America is the premier nonprofit organization dedicated to improving the lives of everyone affected by Huntington’s disease. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today, hope for tomorrow for people with Huntington’s disease and their families.
In the battle against Huntington’s disease no one fights alone. At HDSA, family is everything.
Please click on Title, above, to find virtual Huntington’s disease resources and the video, HDSA’s “Here’s The Deal” tackles important topics to help you navigate through your journey with Huntington’s disease (HD). In this episode Jennifer Simpson, LCSW sits down with Dr. Victor Sung & Dr. Arik Johnson to discuss COVID-19 & HD.
LOCAL HDSA EVENTS
Due to social distancing requirements, all of HDSA’s in-person events and fundraisers through April 30th are postponed. Additionally, many May events are also being rescheduled. We encourage you to visit the event calendar at HDSA.org for the most up-to-date information about events in your community.
Importantly, HDSA’s Team Hope Walk Program is going virtual!
COVID-19, short for coronavirus disease 2019, has taken the world by storm in almost every sense – many people have been infected with the SARS-CoV-2 virus, it’s created shopping pandemonium in stores, and many people are isolated at home. But behind that frenzied storm, scientists around the world have been working tirelessly to move research forward at an unprecedented speed so that we can understand the virus and develop a treatment or vaccine. How does this situation affect the HD community? And what does COVID-19 mean for HD research?
What does COVID-19 mean for HD patients and families?
A key question for many in the HD community right now is: Am I, or is my loved one, at greater risk for COVID-19 because of HD? The answer to that is – it depends. On its own, having the genetic mutation that causes HD doesn’t make anyone more or less susceptible to COVID-19 than someone without HD.
What would make an HD individual more susceptible to COVID-19 is if they had any underlying conditions that put them in the “high-risk” category. Those can be as obvious as having asthma or being a smoker. But this can also include HD individuals who are symptomatic since we know that swallowing, clearing secretions from the lungs, and self-understanding of limitations can be impaired by HD.
Advice from various global HD organizations can be found here:
“On its own, having the genetic mutation that causes HD doesn’t make anyone more or less susceptible to COVID-19 than someone without HD. What would make an HD individual more susceptible to COVID-19 is if they had any underlying conditions that put them in the “high-risk” category. ”
To stay safe and healthy we should all continue doing what the WHO recommends – wash our hands regularly for 20 seconds with hot water, clean surfaces with a disinfectant, and practice social distancing. Social distancing means only coming in contact with members of your household and only going out for essential things, like an essential job, grocery store run, or to get medication from the pharmacy. Everyone should also remain vigilant for the symptoms of COVID-19, which include fever, a dry cough, shortness of breath, and fatigue.
Some HD patients at particularly high risk may need to isolate themselves even more strictly. You should seek advice from the above sources and your health provider if you are concerned.
What does COVID-19 mean for HD research?
Many scientists who usually spend all day in the lab studying HD have been asked to stay home so that they can practice social distancing and remain safe. This means that HD-related research will slow for the short time during this pandemic. A big concern is ensuring that precious samples are kept safe, and experiments that had to be shut down were paused in a way that preserves them to be restarted once it’s safe to hang out in the lab again.
While HD researchers may not be going into lab every day, they’re still hard at work to combat this disease. They may not be doing experiments at the bench, but they’re reading papers to develop their next idea, compiling data to better understand HD, and writing papers to disseminate what they’ve learned to the world. The labs may be quieter, but HD researchers are still hard at work in their fight against HD.
What about clinical trials?
With many countries’ entire healthcare systems turned over to providing care for people with COVID illness, and many doctors and nurses diverted from research into frontline care, an impact on Huntington’s disease clinical trials is inevitable. However, all those involved are doing everything they can to minimize the impact and carry on with whatever trial activity they can.
In practice, the impact will vary quite a bit from one site to another, and from one trial to another. Some sites may still be enrolling new patients, while many will be forced to pause recruitment of new participants and focus on continued care and dosing of patients already involved. Many sites will likely convert onsite trial visits into telephone calls, or postpone visits until it is safer to carry them out in person.
Decisions about what activity can carry on are largely determined locally, by the hospitals and local and national governing bodies that direct healthcare resources. Trial sponsors (companies like Wave, Roche and UniQure) fund, support and organize the trials. So far, all the trial sponsors we’ve heard from have indicated that they continue to be committed to running and completing the trials despite the interruption the viral pandemic may cause.
It may be that some modifications need to be made later, to compensate for trials that were unexpectedly interrupted. For instance, they might need to treat existing patients for longer, or recruit additional patients to make up for lost time. And later, the regulatory agencies like the FDA might need to be more flexible when considering data from trials with higher than normal levels of missing data. With so much unknown about how long COVID will impact things, it’s difficult to be more specific, but the smart people who invented this cool generation of HD drugs and brought them to trials, are now working full time to keep those trials running as well as humanly possible.
“While HD researchers may not be going into lab every day, they’re still hard at work to combat this disease. ”
Could there be a silver lining?
Science and research, and public policy informed by science not superstition, are the key to getting humanity through this crisis. The challenge has already changed scientific research for the better, in some quite fundamental ways, that could provide benefits long after COVID-19 is an unhappy memory.
In a very short time, scientists from around the world have united to study the virus and share their findings to benefit everyone. The number of scientific publications about COVID-19 is rising dramatically week after week.
In an effort to increase the pace of research about COVID-19, nearly all relevant scientific literature has been made open access, meaning it’s currently available for free to everyone – for now at least. You can see just how much work is being done to understand and combat COVID-19 at LitCovid (and read as much as you want!): https://www.ncbi.nlm.nih.gov/research/coronavirus/
Research has already told us a lot about the virus. We know it can be spread from person-to person, either through direct contact with someone else who has the virus or by coming in contact with droplets produced by someone who has the virus, such as a sneeze or a cough – similar to how the flu is transmitted. However, COVID-19 is unlike the flu in many ways – it’s much more fatal, we currently have no vaccine against it, and it’s a new virus so we still have a lot to learn.
It can take up to 14 days after SARS-CoV-2 exposure to bring on COVID-19 symptoms, which is why many doctors are recommending a 14 day isolation period. However, we are now learning that a portion of the population may remain asymptomatic. This means they show no symptoms, but do have the virus and can pass it to other people. In fact, the asymptomatic portion of the population may be as high as 20 to 30%! This is why social distancing and staying at home when possible are critical for not spreading the virus – without widespread testing, we don’t truly know who does or doesn’t have the virus, so isolation is the key to staying healthy.
Dramatic rollout of drug trials
Many members of the HD community already have a head start on understanding how important clinical trials are for determining the safety and function of drugs before they’re distributed widely. It’s something HD patients and families are learning right now first hand with the Roche Phase III Tominersen trials (formerly Ionis-HTTRx and RG6042), and it’s something that will also have to be done, in an accelerated way, for any drug used to combat COVID-19.
For COVID-19, researchers are trying to start on second base by repurposing drugs that are already approved by the FDA for something else, but may have an alternative use for helping COVID-19 patients. Because they’re already approved and on the market, they’ve already passed safety trials, making them faster to use.
The WHO (World Health Organization) prioritized 4 such drugs or drug combinations that they think have the best chance of working against COVID-19 and have established a global trial to determine how well these drugs work, called SOLIDARITY – a fitting name for the global effort that has come together to work against this virus.
Remdesivir is a drug that prevents viral replication, which means it stops the virus from increasing in number. It was initially designed to combat the Ebola virus, and has shown promise for COVID-19. The drug that has gotten the most attention, at least in the United States, is chloroquine, a derivative of which is called hydroxychloroquine. While some people remain eagerly optimistic about this drug, it has limitations and still needs to be tested. The third drug is a combination of ritonavir and lopinavir, which has been approved to treat HIV infections. The last drug is the same combination of ritonavir and lopinavir with the addition of interferon-beta. Interferon-beta helps regulate inflammation and has shown promise in treating a different viral disease, MERS (Middle East Respiratory Syndrome).
This too shall pass
This virus has undoubtedly brought a stressful and scary time for the entire world, but there have been a few bright spots. And while the pandemic will eventually fade away, we will be left with its silver lining. Many have been able to spend additional time at home with loved ones, even if that means having a computer on their lap. Scientific discoveries are being made at break-neck speed as the global research community comes together to fight a common goal. And last but not least, dogs around the world are rejoicing that their 2 legged friends are spending every night staying in. So stay safe and stay healthy, for this too shall pass.
This is the last emotional scene from the book, Watching Their Dance, when John’s three sisters tell us the family secret; their mom had Huntington’s disease.
At that time, John and I were young, 21 and 22 years old. We were both working our way through college, due to graduate in seven months and start a life together.
This news scared me, like I’ve never been scared before, and I realized this horrific disease would now relentlessly haunt the four Marin siblings. In 1978, no test was available,or therapy or cure.
Chapter 1 page 17, second paragraph:
“Stirring the ice with my fingers, I stared at the russet liquid as my racing heart slowed down. I felt as if I had just watched a scene from a bad play and the curtain had come down with a thud. Needless to say, I was glad it was over and the actors were back to their usual selves, but my anguish remained. I had no idea why the sisters had sought this information now. So many question were popping up in my mind, and unfortunately, they would remain unanswered, because the final act of this play was unscripted, the starring actors unknown. Happy or tragic, the ending would play out only over time.”
We Can Never Lose HOPE……
To read the first chapter of the book, please go to my author website, https://www.theresecrutchermarin.com and sign up to receive my weekly blog and I’ll email the first chapter to you.
When Lora, Marcia and Cindy, John’s sisters found out the family secret, their mother, Phyllis, had Huntington’s disease (HD), I remember being afraid but I didn’t know what I was afraid yet.
“Yet” is the key word. I’d never heard of HD or seen anyone with the disease, but by the look on the three women’s faces that day, I knew it couldn’t be good. The Marin Family Secret was about to be unlocked.
This is the scene from my book, Watching Their Dancewhen the three Marin sisters told John and me what they had discovered.
(Chapter 1 page 14)
“The three of us visited Aunt Evelyn last week,” she began.
“It’s been years since we’d seen her, and we decided it was time to reconnect.” She looked at me. “She’s our mother’s younger sister; she lives about an hour south of Sacramento, in Galt.
We learned from her that we have a genetic disease in our family, called Huntington’s disease.
Our mother, Phyllis, and three of her sibling had it.” She paused a moment to let the words sink in.
“We rarely saw our mother’s siblings after she died, so we were unaware that they had suffered from it. It’s an inherited disease that causes the progressive breakdown of nerve cells in the brain. It affects muscle coordination and leads to behavioral symptoms and, um, mental and physical decline.”
Needless to say, this conversation that took place on a cold November day, changed my life as well as the four Marin siblings lives. For the next six months, I began a period introspection, self analysis of whether I could live with this HUGE UNCERTAINTY in my life and whether John and my love was strong enough to bear it.