In my blog last week, I wrote about my experience, in March 1993, when I read the article in the Sacramento Bee regarding the Discovery of the HD Gene. I had cried and called my parents and John was at the gym and the kids were playing outside. I’ll continue my story and what unfolded next.
When John got home from the gym, before he could say anything, I was shaking the newspaper at him with a wide smile on my face. He took the newspaper from me, and started reading the article as he put his bag down and made his way to the couch. I stood in front of him, eyes wide, shaking my head up and down. He looked at me and said, “It’s great that progress is being made on Huntington’s disease (HD) but it won’t help Marcia and Cindy.”
I agreed about his sisters and and then said, “A blood test will be available soon, John, and if you get tested it would give us more control over our lives.” John shook his head and said, “I don’t want to have the test done. I had a lot of uncertainty growing up and this is just one more uncertainty in my life. I want to live with the hope that I won’t have the disease.”
We Can Never Lose HOPE…
To help in the fight against Huntington’s disease, please make a donation to Huntington’s Disease Society of America. Every dollar helps provide services and programs that help HD families have a highest quality to their lives on their HD journey. Thank you.
On March 26th, 2023 the Huntington’s disease (HD) community celebrated the 30-year Anniversary of the discovery of the CAG repeat mutation that causes Huntington’s disease.
HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. Every child of a parent with HD has a 50/50 chance of inheriting the mutation.
I will always remember that March day in 1993 when the news broke to the public. It was a Saturday, the kids were playing outside and John was at the gym. I was sitting at the kitchen table reading the Sacramento Bee newspaper when I saw the article; “A Novel Gene Containing a Trinucleotide Repeat that is expanded and unstable on Huntington’s Disease Chromosomes”.
As I read the article, I was brought to tears of joy that something positive occurred that could move us closer to finding a cure for Huntington’s disease; I thought. I wiped my tears and wanting to share the news with someone I picked up the phone and called my parents.
With this exciting news, I was hopeful there would be a therapy/cure in the near future. At that time, my emotions were raw since we had lost Lora in 1989 to HD complications, and we were watching Marcia struggle with HD fighting to stay independent.
As a Huntington’s disease (HD) Advocate and retired hospice professional, explaining the following three types of care is important for the HD community to know about when caring for a loved one with the disease. You can find these programs in your community.
Hospice care focuses on the care, comfort, and quality of life of a person with a serious illness who is approaching the end of life.
Palliative care is meant to enhance a person’s current care by focusing on quality of life for them and their family.
So, what is the common thread with these three approaches to care? All three concentrate on improving the quality of a person’s life when challenged with a life threatening illness; like Huntington’s.
We Can Never Lose HOPE..
After I married John, taking the biggest gamble of my life, every decision John and I made together, a little voice in the back of my mind always whispered, “If John has Huntington’s disease (HD), what is your back up plan?” Since I struggle with Obsessive Compulsive Disorder (OCD) and like to be in control, after big decisions were made, I secretly created a backup plan or contingency strategy; an alternative which can be used if something goes wrong with the main plan; a recourse.
Early in our marriage, Huntington’s disease (HD) didn’t impact our lives; the Marin siblings were young and HD seemed so far away. It was only when my sisters-in-law, Lora, Marcia and Cindy started showing symptoms of the disease that decisions, for me, became more difficult.
As a young couple, starting our lives together, after two years of marriage John and I decided to purchase a home. When we were looking, my mind raced with this question: “If John becomes disabled, because of HD, can I make the mortgage payments on my salary?” To have some control, I took out a Mortgage Insurance Policy, that paid the mortgage if John was deemed disabled.
HD families struggle with many complicated decisions throughout their lives as John and I did. We make the best decision based on the information we have at the time, and having a backup plan provided me with some control and calmed my fears.
We Can Never Lose HOPE……
To foster cutting-edge Huntington’s disease (HD) drug discovery research, there is great need for brain donations from HD families. A brain donation is a gift of knowledge that is essential to enhance the understanding of HD. Although deciding to become a prospective brain donor can be difficult, signing up is a simple process. Any person 18 years of age or older can complete the “Brain Donation Registration.”
One driving force behind research on the human brain is the availability of human brain tissue. A brain donation is an invaluable gift anyone can make to further how researchers understand the brain and different diseases that affect it, like HD. Learn more about brain donation on Huntington’s Disease Society of America’s website, here.
My two sisters-in-law, Marcia and Cindy, both chose to donate brain tissue to Harvard Brain Bank after they died. They both were altruistic and wanted to help find a cure for HD even though they would not benefit from it.
To watch a session on Brain Donation at the HDSA Annual Convention last June, visit https://youtu.be/J5O8VEd-jww
We Can Never Lose Hope…….
John and I arrived in Atlanta Georgia yesterday where I’m attending the Huntington’s Disease Society of America (HDSA) Annual Convention to sit in on the many sessions offered regarding Huntington’s disease. We came two (2) days early so we could see the famous Atlanta Aquarium.
The second picture on the left, is myself at the 2019 convention with Anna Canoni, Woody Guthrie’s granddaughter. I was awarded the HDSA Woody Guthrie Advocacy Award, a wonderful, humbling surprise.
That year the convention was in Boston, and it was a wonderful inspiring event. After the convention, John and I traveled through upstate NY and visited Niagara Falls, a wonder of Mother Nature.
Please help the nonprofit, Huntington’s Disease Society of America (HDSA) San Francisco Bay Area Affiliate fight this disease by donating to fund research, fund two (2) HD clinics at Stanford and UCSF Medical Center, three (3) local HD support groups, online support groups, and many free online resources.
Thank you in advance. Please Make your donation here.
We Can Never Lose HOPE…
When you are a Huntington’s disease (HD) family, a very difficult decision that HD families are faced with is whether to be tested for the mutated huntingtin gene that causes the disease. John’s mother had HD so he and his three (3) sisters had a 50/50 chance of inheriting the expanded gene.
John did not want to be tested for many years, 36 years to be exact, until our two (2) children became engaged to be married. John felt he owed it to his children to know his gene status so they could plan their lives. In 2016, John tested negative for which we are forever grateful. Personally, I found it very difficult to live at risk; it was the hardest thing I have ever done.
Over the years, I wondered how many individuals decide to be tested? I wasn’t surprised when I discovered only about 10-15 percent of people who live at risk for HD have been tested since the test became available in 1993. It’s wonderful if the test is negative, but devastating to know your CAG, cytosine-adenine-guanine, count, when it is higher than 36. (you will have the disease at some point in your life)
Please watch the two (2) short video’s regarding making a decision to test or not to test by Jennifer Simpson, Huntington’s Disease Society of America (HDSA) Assistant Director of Youth & Community Services and a Licensed Clinical Social Worker.
Last week I blogged regarding three (3) oral drugs that could potentially improve the quality of life for those struggling with Huntington’s disease.
Yet, there is another oral drug that I left off my blog, PTC Therapeutics.
“PTC is developing a potential treatment for Huntington’s disease, based on our splicing platform technology. PTC518, a small molecule that can be taken orally, reduces the production of the mutated huntingtin protein that leads to injury and death of the neuron, which results in disease progression. We plan to start a Phase 2 clinical study for PTC518 during 2022.”
If you missed it, on February 9, 2022 I posted information on three (3) possible oral therapies:
Prilenia Therapeutics Pridopidine is an oral drug currently in development for the treatment of Huntington’s disease and ALS. It is administered in a small easy-to-swallow capsule twice a day. The aim of the study is to evaluate pridopidine’s impact on Total Functional Capacity (TFC score) as the primary endpoint.
Sage Therapeutics SAGE-718 is a first-in-class oral medication that works by modulating the activity of the N-methyl-D-aspartate (NMDA) receptor, a protein that’s present on the surface of neurons (nerve cells) and plays key roles in learning and memory.
Norvartis Branaplam is being developed as a potential first in class orally administered disease modifying therapy for HD. Branaplam is an investigational disease modifying treatment, taken orally and has the potential to alter the pathology and progression of HD by modifying HTT mRNA throughout the brain and the body, resulting in lower levels of HTT protein.
We Can Never Lose HOPE……
Here’s what Trey Gray has been up to these days. Trey is a philanthropist, musician, father, Huntington’s disease advocate and a man living with Huntington’s disease for over 18 years.
Huntington’s disease couldn’t stop Trey, and he found that drumming helped contribute to his longevity. “Any type of oxygen you get into your brain is good, and moving helps,” says Gray. “With drumming I’m doing four limbs sometimes at a time; imagine that in your brain, the neurons that are firing, it’s just fantastic.” Since his diagnosis, Gray has continued playing, in the studio and on tour, with country superstars Faith Hill, Jewel, Brooks & Dunn, and Reba McEntire.