As a person who sees the glass half full instead of half empty, I’m looking for a return to some sense of normality and to having access to the vaccine and being able to relax and be hopeful. It will be a relief to see the job market rebound. Bye, bye 2020 and welcome 2021.
Needless to say, I don’t think anyone would disagree that 2020 was a year like we have never experienced before. The number of Americans dying from Coronavirus is staggering.
As of today, December 30th, 2020 over 339,000 Americans have died a horrible death and more than likely, died alone.
Since my family was at risk for the cruelest disease on the planet, Huntington’s Disease, a rare, fatal, genetic brain disorder with NO CURE, John and I always lived our lives MINDFULLY and TOOK NOTHING FOR GRANTED. What is Mindfulness?
This unprecedented year, has reinforced the importance to live in the moment, appreciate and enjoy the day. California is in such a bad way with COVID-19 that John and I have not seen our children much this year. I cherish them more and tell them I love them often. Also, during the pandemic, I have felt closer to my sisters, nieces and nephews and believe I understand them more than I did before.
I pray this will be the last pandemic the world will have experience, for awhile, and I hope we have learned from it.
In case you missed uniQure announcement regarding AMT-130, I’m posting the great news for the Huntington’s Disease community around the world. One of the locations for a clinical for AMT-130 is Ohio State.
~ Milestone Marks the First-in-Human AAV Gene Therapy Trial for Huntington’s Disease ~ Lexington, MA and Amsterdam, the Netherlands, June 19, 2020 —
uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced that the first two patients in the Phase I/II clinical trial of AMT-130 for the treatment of Huntington’s disease have been treated. To read the complete news release, visit: AMT-130_Huntingtons_Disease_FINAL.pdf
I’m a Huntington’s disease advocate, the Chair for HDSA San Francisco Bay Area Affiliate, a blogger and the author of the nonfiction book, Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s.
John and I have donated 100% of the profit from the book to the nonprofit, Huntington’s Disease Society of America (HDSA). To date, we’ve gifted over $15,000.00. Review by Goodreads: Goodreads.com-Watching-Their-Dance
My family wants to see the eradication of this horrific disease that has devastated the Marin Family for generations.
Last week I wrote how I almost didn’t follow my heart and marry the love of my life, John Marin, because I was scared, fearful that Huntington’s disease would attack him and slowly steal him away from me. What-is-huntingtons-disease
At that time, I didn’t think I was strong enough or brave enough to live with an enormous uncertainty in my life forever or until there was a cure for Huntington’s disease. Fear held me hostage and blinded me of the strength’s I possessed; I am resilient, persistent, empathetic, strong, caring, kind and irrevocably in love with John.
Last week, Gayle King, CBS Good Morning news, interviewed Mark Zuckerburg and his wife Priscilla Chan, Facebook leaders, about many topics. I watched some of the interview and, thankfully, saw the discussion that could impact the Huntington’s disease community around the world.
Their goal is to cure all disease diseases by 2100.
They have committed to 3 billion dollars to achieve this goal.
I won’t be around, if you’re a baby boomer, maybe my great or great, great grandchildren will be on this earth.
After watching the interview, I got to thinking, “I wonder if Huntington’s disease (HD) is high on the list?”
I say this because I believe Huntington’s disease is the cruelest disease on the planet!
All diseases cause some level of suffering, but HD doesn’t just affect the patient, but everyone in the family and the suffering can go on for many years; my two (2) sisters-in-law struggled with HD for 17 years. What is Huntington’s Disease?
I am a Huntington’s disease advocate, volunteering for Huntington’s Disease Society of America (HDSA), the premier nonprofit dedicated to improving the lives of everyone affected by Huntington’s disease and their families. http://HDSA.org
We Can Never Lose HOPE…
To learn more about my Huntington’s disease journey and the book I published to raise awareness, generated dollars to donate to HDSA, visit https://theresecrutchermarin.com
Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s is available on many book websites like Amazon.
Since I published in 2017, many promising clinical trials have been started around the world, so I also updated pages 306 & 307, “Huntington’s Disease Update”.
Here is an Excerpt from “Huntington’s Disease Update” page 306.
“Through the years, I have coined the statement, “Huntington’s disease is the cruelest disease on the planet”. While there is still no treatment or cure for this fatal progressive disease, the Huntington’s disease community has been blessed with good news and HOPE for a treatment has grown exponentially.
In April 2017, when I published Watching Their Dance, Ionis Pharmaceuticals, Inc. had just announced a potential treatment for Huntington’s disease; a gene-silencing program. Experts said it could be the biggest breakthrough in neurodegenerative disease in 50 years. Ionis stated they had favorable results from its 1/2a trial with the drug, IONIS-HTTRx.
HTTRx targeted the huntingtin gene that provides instruction for creating a protein called huntingtin protein. The mutated huntingtin gene expands causing abnormal CAG counts that creates a toxin protein that kills the nerve cells in the brain, which causes Huntington’s disease.
Author Therese Crutcher-Marin
To continue moving forward, Ionis partnered with Roche Pharmaceuticals to conduct the clinical trials on the drug, now called RG6042. The trial is currently being conducted at 80-90 sites in 15 countries. There are 660 patients with early symptoms of Huntington’s disease enrolled in the study.”
I’m kicking off a series on HOPE with a positive video from Post Card from Palm Springs, “Highlights of the 2019 CHDI Therapeutics Conference” with Charles Sabine, Huntington’s Disease Advocate. Watch the video here:
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 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 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. http://www.hdsa.org
Mai-Lise Nguyen, Roche Patient Partnership Director says the trial will answer these question, “Does the lowering of mutant huntingtin translate into actual clinical benefit? Is it a meaningful benefit for patients and their family?”
Approximately 660 people are enrolled in the clinical trial in 15 countries around the world and we all await the results from the trial.
The Human Condition: “the characteristics, key events, and situations which compose the essentials of human existence, such as birth, growth, emotionality, aspiration, conflict, and mortality”. It is a very broad topic which has been and continues to be pondered and analyzed from many perspectives.
I believe HOPE lives in each element of the Human Condition and HOPE lives in the heart of every Huntington’s Disease (HD) family member. HD is a rare brain disorder with symptoms of ALS, Alzheimers and Parkinson’s that no cure. http://www.hdsa.org
Dr.’s Ed Wild from the U.K. & Jeff Carroll from the U.S.
John and I had HOPEfor healthy children with a normal CAG count. HOPEkeeps me emotionally grounded and passionate about offering HD information on all my social media platforms so no one fights HD alone. The HD community has HOPE that researchers will find a cure/therapy. HOPE keeps my heart open to forgiveness and HOPE allows me to use my mortality to keep me mindful everyday of all the all the blessings I have in my life.
Lora, Cindy, Marcia Marin
HOPE is what John and I clung to, along with each other, as we watched his three sisters, Marcia, Lora, and Cindy, battle Huntington’s disease over a 24 year period of time.
HDSA 2019 Convention
I embraced HOPE, praying everyday John didn’t carry the mutated huntingtin gene.
We must remember, there is power in the emotion of HOPE that can help us through tough times. Read about /the-power-hope
“The road that is built in HOPE is more pleasant to the traveller than the road built in despair, even though they both lead to the same destination.” — Marion Zimmer Bradley, The Fall of Atlantis
Therese selling books at the Woody Guthrie Folk Festival in Okemah OK in July 2017
I have to admit, I am a Hopeaholic. HOPE was my armour protecting me from being drug down into the pit of despair. HOPE was the only thing that kept me sane for 24 years as John and I stared in the faces of Lora, Marcia and Cindy, my sisters-in-law, as they struggled with Huntington’s disease (HD).
The year our son, Keith, was born was when Huntington’s Disease (HD) became real to my family. It was October, 1984, when I was in the community hospital giving birth to our first born, while Lora, John’s oldest sister, was deeply depressed and self-medicating with alcohol. She was in Starting Point, a drug and alcohol rehabilitation center on a different floor of the hospital. So, John was on a roller coaster, joyous with our new son and upset and sad about Lora.
Lora, John and Keith in our backyard in 1985. Lora was living with us.
John and our son, Keith.
Excerpt from Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s, Chapter 13:
“Then he turned away and began talking in a low voice. It wasn’t hard to figure out what they were discussing. It made me sad, but just then, a nurse walked in with Keith and placed in my arms this little person I’d been waiting for my whole life. When John hung up the phone, we each held one of Keith’s tiny hands. Staring into his bright eyes, I think we both saw HOPE.”