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Huntington’s Disease

Hospice, Palliative Care and HDSA Have Similar Goals For Patients

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.

The mission/goal of hospice care, palliative care and Huntington’s Disease Society of America have a common thread; a kindred objective that connects the three of them.

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.

The nonprofit, Huntington’s Disease Society of America, focuses on improving the lives of everyone affected by Huntington’s disease (HD) and their families. Find Help

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..

I’m a Huntington’s disease (HD) advocate, President for the HDSA San Francisco Bay Area Chapter, a blogger and an author. Visit my website https://theresecrutchermarin.com

March 8, 2023 by crutcht

Huntington's Disease

Huntington’s Disease: A Factor When Making Life Decisions

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……

Author Therese Crutcher-Marin

I’m a Huntington’s disease (HD) advocate, Chair for the HDSA San Francisco Bay Area Affiliate, a blogger and an author. Visit my website and learn about HD: https://theresecrutchermarin.com

October 12, 2022 by crutcht

Huntington's Disease, Love

Brain Tissue Donation Helps Huntington’s Disease Research

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.

To Register as a Brain Donor: Visit the HBTRC website, email [email protected], or call 800-BRAIN-BANK (800-272-4622) for more information.

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…….

October 5, 2022 by crutcht

Huntington's Disease

Huntington’s Disease Society of America Annual Convention

Hi and Welcome from Atlanta Georgia.

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.

In the past, when we could meet in-person back in 2019, we traveled early or stay a few days after the convention to see the sights of the city.

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…

June 8, 2022 by crutcht

Huntington's Disease

To Test or Not To Test For Huntington’s Disease

May is Huntington’s Disease Awareness Month!

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.

Video on Why to Test:

Video on Why Not to Test

We Can Never Lose HOPE……

Author Therese Crutcher-Marin

I’m a Huntington’s disease (HD) advocate, Chair for the HDSA San Francisco Bay Area Affiliate, a blogger and an author. Visit my website and learn about HD: https://theresecrutchermarin.com

May 24, 2022 by crutcht

Huntington's Disease

Another Potential Oral Therapeutic Drug for Huntington’s Disease

Author Therese Crutcher-Marin, HD Advocate

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.

How is PTC Working to Treat Huntington’s Disease?

“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:

Three companies are conducting clinical trials on oral drugs, and if successful, will allow folks with HD, a higher quality to their life.

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……

Author Therese Crutcher-Marin

March 2, 2022 by crutcht

Huntington's Disease

Update on Trey Gray-Huntington’s Disease Advocate

Trey, in the middle, with friends

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.

Trey has been the drummer on Brooks & Dunn band for many years and is on the road again performing.

Indianapolis, St. Louis, and Cincinnati! You’re up first! See y’all this weekend to kick off the #RebootTour!

Tickets: https://www.brooks-dunn.com/tour/

Trey also has a treygrayfoundation

You’ll see this post on his FB page just about everyday. https://www.facebook.com/trey.gray.564

We Can Never Lose HOPE…….

September 2, 2021 by crutcht

Helping Others, Huntington's Disease

What A Dollar Buys

The Huntington’s Disease Society of America (HDSA) San Francisco Bay Area strives to improve the lives of everyone affected by Huntington’s disease (HD) and their families.

With your donation, HDSA is able to support the following: Donate Here

Research to develop new therapies, provide services and resources to our HD families trying to cope with the effects of the disease.
Grow our advocacy and educational programs to remove barriers to care.
Working together we are making a difference in the lives of people with HD and finding the answers to this devastating disease. All of our work is made possible by public donations.
Below is an example of how powerful your contribution can be.

Author Therese Crutcher-Marin

We Can Never Lose HOPE…….

August 26, 2021 by crutcht

Huntington's Disease

Sessions Available from the 36th Annual Huntington’s Disease Society of America Convention

Hi, I’m Therese Crutcher-Marin, Huntington’s Disease Advocate, Chair for the HDSA San Francisco Bay Area Affiliate, a blogger and an Author.

Huntington’s Disease (HD) is a rare, fatal, genetic brain disorder that has the symptoms of ALS, Alzheimers and Parkinson’s disease at the same time. There is NO CURE. 41,000 Americans are symptomatic and approximately 200,000 live at-risk of inheriting the mutated huntingtin gene that causes the disease.

If you were unable to watch sessions presented at the virtual Huntington’s Disease Society of America (HDSA) Convention last June, that you wanted to attend, 49 sessions were recorded. Here’s a few of the sessions.

Juvenile HD 101

Clinical Trials Part 1

SSDI, SSI, DISABILITY, HEALTHCARE PLANNING FOR HD

TESTING POSITIVE ACCEPTANCE TIMELINE: THE ROLLERCOASTER RIDE OF ACCEPTING AND LIVING YOUR LIFE

FAMILY PLANNING WHEN HD IS IN THE FAMILY

To see all the sessions, please go to 36TH ANNUAL CONVENTION

36th Annual Convention Welcome and K eynote from HDSA on Vimeo.

We Can Never Lose HOPE……

Please make a donation to the nonprofit, Huntington’s Disease Society of America, to help fight HD.

August 17, 2021 by crutcht

Huntington's Disease

Prevalance of Huntington’s Disease

There are approximately 7,000 rare diseases in the world and Huntington’s disease (HD) is one of them. National Organization for Rare Disorders

Author Therese Crutcher-Marin

To truly understand the rarity of HD, you just have to look at the numbers. It’s staggering how rare HD is around the world. Information on Huntington’s disease

The prevalence of Huntington’s Disease (HD) has been reported to vary with ethnicity and geographical location, confirming that demographic differences influence the number and composition of individuals with HD. Since HD is believed to have major origins in Northern Europe, it is not surprising that populations of Northern European descent are recorded as having the highest prevalence of HD in the world.

In the United Kingdom (UK) there are 12.4 per 100,000 persons or 1 out of every 8,065 individuals may be affected with HD. Huntington Study Group

Other countries where Huntington’s is particularly prevalent include Ireland (10.6 per 100,000); Norway (6.7); Italy (6.35); Australia (6.3); Denmark (5.8); Great Britain (5.4); Slovenia (5.2); and Sweden (4.7). Huntingtons Disease News

N.neurology.org estimated the true HD prevalence in the US to be 41,467, while the number of persons currently diagnosed is at least 21,331.

The percentage of Americans living with HD is .014 of the U.S. population. We are a very small population and that’s why HD is considered a RARE DISEASE. (A disease is considered rare, when it affects less than 200,000 people)