I’ve been involved with the Huntington’s disease (HD) community for many years and I have witnessed the resilience, courage and love within HD families. I believe the emotion, Under Love is a Stronger Emotion is Devotion. (love, loyalty, or enthusiasm for a person, activity, or cause)
Huntington’s disease is grueling, heart breaking, a stressful condition for any family to bear. HD families are devoted to their loved one, as John and I were to my three sisters-in-law, Lora, Marcia and Cindy. It comes down to, “that’s what you do for the people you love”.
Two local families, the Miller and Granlund, who I personally know, have shown their love and devotion to their dad/spouse for years. The Miller and Granlund children, recently stepped up and formed a new committee, the HDSA San Francisco Bay Area Chapter HDSANational Youth Alliance (NYA) in honor of their fathers. NYA is a collection of children, teens, and young adults from across the country that motivates young people to get involved in their local HDSA Chapters, Affiliates, and Support Groups.
HDSA doesn’t advertise their Centers of Excellence as palliative care, but it is palliative care; treating symptoms to improve quality of life and then connecting to community supports that are palliative (support groups, in home assistance, education events).
Huntington’s disease, a rare, fatal, genetic brain disorder that has symptoms of ALS, Parkinson’s and Alzheimer’s simultaneously, has NO CURE and slowly progresses over 10-20 years.
I believe it is vital for Huntington’s disease families to connect with a Center of Excellence to address issues as a family’s HD journey changes. The interdisciplinary team at the COE has a discipline/medication for just about every symptoms that occurs in HD patients.
An example: People with HD may inadequately chew foods, and commonly add more mouthfuls of food before swallowing. Poor coordination may lead to frequent choking on liquids and on solid food. Aspiration of liquids or food may lead to pneumonia or even to death by choking.
To address swallowing issues a referral can be made to a speech therapist who can help the patient and family address it.
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.
Huntington’s disease (HD) is a brain disease that is passed down in families from generation to generation. HD has the symptoms of ALS, Parkinson’s and Alzheimer’s at one time and it strikes young. And there is NO CURE.
It’s very exciting and it could not have happened without the help and support of the Leadership Team; Uma Thontakudi, Steve McConoughey and Jay Denhart-Lillard.
Many thanks go to the Board members who helped the Affiliate realize its goal of become an official Chapter. Everyone on the Board is a volunteer as Huntington’s Disease Society of Americais 90% volunteer based.
Tominersen is an antisense therapy that acts by reducing the production of all forms of the huntingtin protein (HTT), including its mutated variant (mHTT), which is believed to be the main cause of HD.
Info on the study:
-Adults 25-50 years of age (early stage of HD)
-360 people in the study
-Clinical trial locations will be in 15 countries; more than 1 in US
Disappointing news for the Huntington’s disease community from Novartis Pharmaceutical Company regarding stopping the clinical trial VIBRANT-HD. Read full article here
“Tucked into its latest earnings report, Novartis confirmed to investors that it has stopped developing an experimental drug for Huntington’s disease.
The reason, according to Novartis, was an “overall assessment of the risk-benefit profile” observed in a mid-stage clinical trial named VIBRANT-HD. In August, Novartis said it had temporarily suspended dosing in the study, after discovering that some patients treated with the drug, known as branaplam, were experiencing nerve damage.”
Life is fragile because it is finite; our lives are not endless, but they begin and they come to an end.
We can lose loved ones in a split second, major changes can happen on a whim and there are many, many things outside of our control.
Lora, Cindy, Marcia Marin
That is what makes life so fragile.
If anything, Huntington’s disease (HD) has taught me not to take life for granted. When I first learned of HD being in the Marin family I could only think about how unfair it was to Lora, Marcia, Cindy and John to have to live in the shadow of HD; living at riskwith a 50/50 chance of inheriting the mutated huntingtin gene from their mother. With time I came to realize that knowing my world could change overnight was a gift and I began to live MINDFULLYeach and every day and I never took John, our life, our love for granted.
I share my experience in my blog today as a reminder that, “We are fragile creatures, and it is from this weakness, not despite it, that we discover the possibility of true joy.” Desmond Tutu (South African bishop)
My sister-in-law, Marcia Louise Marin, was the kindest and most unassuming woman I have ever met. After high school, in 1968, Marcia got a job in the typing pool at Pacific Telephone in the financial district of San Francisco. Marcia advanced in her job quickly to become a professional marketing rep who demonstrated to new businesses how to use their telephone system. She was a stunning, sheek, professional woman who I admired.
Unfortunately, she was struck down by Huntington’s disease (HD) at a young age, and watching her decline was very difficult for me. Needless to say, Huntington’s disease angered me for cutting Marcia’s life, her independence, her career short and leaving John, Keith, Vanessa and myself at age 49.
“Marcia was one of the sweetest people I’ve ever known. How I wish her life had been different. We supported her through the years, dealing with delicate subjects and situations. She was such a sweetheart, always giving us a look of gratitude that tugged at our hearts. I watched her with awe and wonder, because she never complained or uttered words of anger. She never cursed God for her fate and accepted her destiny.”
Every day families around the world are confronted with challenges in their lives; a devastating Huntington’s disease (HD) diagnosis, a cancer diagnosis, a challenging medical diagnosis, an autistic child, a miscarriage, a significant death, divorce and many other threats. I don’t know of a family that has not had one at some time in their life. With that said, I took a risk for LOVE with my then boyfriend John, who I ultimately married, with an unknown gene status for Huntington’s disease. I decided that I was willing to take that risk because I believed, “Love that ‘endures all things’ islove that hopes in the face of circumstances that often seem dark”.
John and I had dark times, walking beside Lora, Marcia and Cindy, John’s three sisters, on their HD journey for over 24 years. Plus, living at risk for HD is stressful and can challenge a relationship, but John and showed the world that love can conquer any hardships, difficulties, and challenges.