WAVE is currently enrolling adults with early manifest Huntington’s disease (HD) who carry a SNP at the rs362307 (“SNP1”) location for a Phase 1b/2a clinical trial.
Sometimes we witness a miracle, a wonder, and overlook the meaning/purpose/impact that the experience can have on our lives. I think folks think of a miracle as a tremendous, jaw dropping event. To appreciate these special moments in my life, I have changed my perception of what a miracle is.
An encounter I experienced this week at the Homeless Center was about a young man who I’ve seen many times. I’m an interviewer, asking what services they need that day and I feel I’m a sounding board acknowledging their story, plans, and goals. The young man, who I have seen many times, shared that he had been sober for 14 days and that he was being admitted into a 90-day rehab program in a couple of weeks. I consider this a miracle, so, I congratulated him, gave him a hug, and wished him well.
A while back, one of John’s cousin’s made a statement that made me ponder for a moment, and recognize that what happened in my life was indeed a miracle. The conversation was about divorces in our world today. The cousin said, “It’s a miracle that you and John didn’t divorce with all you have been through”. I had to agree.
We Can Never Lose HOPE………….
I’m a Huntington’s Disease advocate having lost my three sisters-in-law to this horrific disease that has no cure. 100% of the proceeds from the book is being donated to the nonprofit, Huntington’s Disease Society of America (HDSA), to help in the fight against the disease. What is Huntington’s disease: http://www.hdsa.org
To purchase the book, go to https://www.amazon.com/Watching-Their-Dance-Marrying-Huntingtons. It’s also available on many other book websites.
WAVE Life Sciences had a table at the Huntington’s Disease Society of America (HDSA) Convention in Boston last month and I spoke with a rep for quite awhile. It’s very exciting what they are doing for Huntington’s disease (HD).
“We have designed stereopure oligonucleotides to selectively target the mutant HTT allele to lower the production of mHTT protein while leaving healthy HTT protein relatively intact.” https://www.wavelifesciences.com/
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. http://www.hdsa.org
A little bit of information: We all have two Huntingtin genes; one from your father, one from your mother. Say, you have a CAG repeat of 42 from your father and a CAG count of 17 from your mother.
The drug WAVE life Science is conducting clinical trials on, Phase 1b/2a, only lowers the mutated Huntingtin gene and leaves the healthy one alone.
WAVE is currently enrolling adults with early manifest Huntington’s disease (HD) who carry a SNP at the rs362331 (“SNP2”) location for a Phase 1b/2a clinical trial.
We Can Never Lose HOPE…………….
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
John and I had HOPE for healthy children with a normal CAG count. HOPE keeps 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.
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.
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
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.
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.”
Gloria Steinem, one of my female hero’s. https://www.history.com/topics/womens-history/gloria-steinem
We Can Never Lose Hope……………..
Author website: https://www.theresecrutchermarin.com
Whenever I discover an article, a famous person, resources, a study about Huntington’s disease (HD) I like to blog about it. What is HD?
An interesting article from the Food & Drug Administration (FDA) on Huntington’s disease:
On September 22, 2015, FDA held a public meeting to hear perspectives from people living with Huntington’s Disease (HD) about disease symptoms, the impact of HD on their daily life, and their experiences with currently available therapies. As part of this commitment, FDA is holding at least 20 public meetings over a five-year period, each focused on a specific disease area. To read the complete report: https://www.fda.gov/downloads/drugs/newsevents/ucm491808.pdf
What I found most interesting is the section, “Overall Impact of Huntington’s Disease on Daily Life”.
Therese with the famous Dr. Nancy Wexler at the 2018 HDSA National Convention in Los Angeles. Therese’s author website is https://www.theresecrutchermarin.com
100% of the profit from Watching Their Dance is being donated to the nonprofit, HDSA. Since publishing the book, Therese and John have gifted over $14,100.00 to them.
Each of us is given but one pass through life. No retakes. No repeats.
So, make a covenant –
To live well. Be good to yourself, your family and others. Be big in behavior, not small. Think mature, not immature. Take the long view, not shortsighted. Participate thickly, not thinly. Consider carefully Abraham Lincoln’s thought that “in the end, it’s not the years in your life that count. It’s the life in your years.”
Or roll Oscar Wilde’s thought around during the day: “To live is the rarest thing in the world. Most people exist, that is all.” Celebrate how great life is. The world is a beautiful place to be. Colorful. Stimulating. Interesting.
To laugh often. Laughter cures the soul. It removes masks. Humanizes. Laughter heals many rifts, bridges many gaps. It builds memories. Laughter is universal among people. Laughter makes you live longer. Laughter makes friends, builds memories. Laughter vanquishes demons and warms your soul.
To love greatly and deeply. Love is the most generous gift given us. Love makes all else possible. To love greatly means to love unselfishly, for the sake of others as well as yourself. To love things beyond yourself, beyond your personal interests. Love gives back two fold. Love improves others. Love improves the giver.
From Prof. Marty’s Corner https://www.livelaughlove.com/live-laugh-love-blog/philosophy
Love is what got John & I through the tough times…………watching Lora, Marcia & Cindy, my three sisters-in-law, struggle with Huntington’s disease.
Therese’s author website: https://www.theresecrutchermarin.com
Choice, Chance and Change: The Three C’s of Life. https://www.habitsforwellbeing.com/the-3-cs-of-life-choices-chances-changes/
When I was 22 years old, I had to make the most difficult decision (choice) of my life. I was in love with a man I planned to marry after I graduated from California State University, Sacramento. I was at a fork in the road; marry John and live with the uncertainty of Huntington’s disease (HD) or walk away from the love of my life. HD is a rare, fatal brain disorder that is like having ALS, Alzheimers, and Parkinson’s at the same time. There is no cure. The famous folk singer, Woody Guthrie, had HD. info on HD
A FORK IN THE ROAD is a metaphor, based on a literal expression, for a deciding moment in life or history when a major choice of options is required. https://www.success.com/13-quotes-about-making-life-choices/
Many of us have hard choices in our lives; I’ve never met anyone who hasn’t, as it is part of life. Some choices may be more difficult than others; leaving the man I loved who never hurt me or making a choice to stay, was mine.
Fortunately, I had an epiphany which lead me back to my love, John Anthony Marin.
To help in the fight against Huntington’s disease, that killed my three (3) sisters-in-law, at young ages, John and I are donating 100% of the proceeds from Watching Their Dance, a love story while living in the shadow of HD, to the nonprofit, Huntington’s Disease Society of America (HDSA). To date, we have donated over $14,000.00. amazon.com/Watching-Their-Dance-
Have you ever wondered where Huntington’s disease (HD) originated? Or why it’s predominantly found among Europeans and those of European descent? What-is-hd/
Most scholars believe that European migration was what brought HD alleles into the continents of North America, South America, Australia and New Zealand, and the prevalence of HD in these regions is now similar to that of Europe, where HD affects around 40-100 per million people. (or 4-10 per 100,000)
Experts estimate that one in every 10,000 persons—nearly 30,000 in the United States—have Huntington’s disease. (10 in 100,000, 100 in a million). Juvenile Huntington’s occurs in approximately 16% of all cases. http://web.stanford.edu/group/hopes/cgi-bin/hopes_test/hd-in-europe/
100% of the profits from the book, Watching Their Dance, an inspirational love story while living in the shadow of HD, is being donated to the nonprofit, Huntington’s Disease Society of America (HDSA). Since the book was published, in April 2017, Therese has donated $14,100.00 to the nonprofit, Huntington’s Disease Society of America.