Therese Crutcher-Marin experienced the effects of Huntington’s Disease (HD) on sufferers and families first hand in her own family. She’s written a book to raise the profile of the disease. If you’re not aware of the realities of Huntington’s Disease, this is the definitive work.
All proceeds from book sales will go to the fight against HD. It’s a story of three sisters who died of the disease. Therese is a member of the Board of Directors of the Huntington’s Disease Society of America (HDSA).
For a previously almost total ignoramus, I’ve learned a lot in a hurry about Huntington’s. I interviewed another HD-affected family member recently on this subject, and I’ve been stunned by the dedication and caring society of those dealing with HD. I was lucky enough to get an interview with Therese right in the middle of her long promotional venture for the book.
I’d also like to thank Therese for her time and very useful, detailed responses, which clearly define the very hard yards in trying to manage Huntington’s Disease in the family.
NOTE FOR THOSE NOT FAMILIAR WITH HUNTINGTON’S: (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 carrying the faulty gene. Many describe having HD as having ALS, Parkinson’s and Alzheimer’s all at the same time.)
What was the strategic objective in writing your new book?
In 2008, John and I had lost his third sister to Huntington’s disease and we were both struggling with tremendous complicated grief over the death of John’s entire immediate family. John and I had witnessed the decline and death of his three sisters by Huntington’s disease for over 25 years. In March of 2010, I began to develop an idea for a book that would ultimately serve many purposes.
First, writing the story would allow me to heal, and secondly, the book would honor and create a legacy for the Marin sisters. A few years into the project, John and I decided to add a fundraising component to the book and donate the proceeds to Huntington’s organization around the world. It was our wish to generate a continuous revenue stream to help families struggling with the disease. And lastly, but just as important, the book would be a tool to heighten HD awareness.
How did you approach the “handling issues” of your sisters-in-law?
Huntington’s disease presented differently in each of my three sisters-in-law, so the “handling issues” were unique to each of them. Lora, John’s oldest sister, first symptom of HD was deep depression which is the most common psychiatric disorder associated with the disease. She had high anxiety and mood swings and uncharacteristic anger and irritability.
She chose to self-medicate with alcohol, which deteriorated the relationship with her husband that led her to live with us. We supported her as best we could; John participated in her rehab sessions and once she was on her own, attended her AA meetings. She was in four drug/alcohol rehab facilities over a three-year period, and still struggled with sobriety. Unfortunately, over a five-year period of time, she developed cirrhosis of the liver, took a bad fall, which resulted in a cerebral hemorrhage, she was on blood thinning medication because her liver was shutting down, and died at age 41. In the 1980’s, no genetic test was available so Lora was never officially diagnosed with HD.
John’s second oldest sister, Marcia, exhibited twitches in her hands and shoulders when she was in her early 30’s and by age 34 her balance began to be compromised. At age 36, she was in a terrible car accident that seemed to trigger and exacerbate the HD symptoms and she could no longer work. John and I moved her close to us and into an apartment. Within a year, Marcia began having difficulty with performing activities of daily living, routine activities we do every day without assistance, such as eating, bathing, dressing, toileting, and walking.
As the disease progressed, handling Marcia was very difficult because the chorea and abnormal involuntary movements her body was experiencing were severe. Her safety became an issue and we respected her independence for as long as possible. After a few bad falls that resulted in black eyes, bruising and deep cuts, we insisted she wear a helmet and installed Lifeline in her apartment; an emergency response system, so when she fell she could access help by pushing a button she wore.
Eventually, that was not enough protection and since John and I worked fulltime, we enrolled Marcia in an Adult Day Healthcare Program in our community, which took her to and from the center three days a week. The center employed medical professionals who were trained to monitor the health status of the participants, administer prescribed medication and treatment, and performed personal care.
We hired a caregiver for the days she was home and on the weekends she was with our family. We eventually hired a 24-hour caregiver to live in her apartment and assist Marcia with her daily life. In 1995, the caregiver could no longer handle her safely, and she was aspirating and had urinary retention, which caused recurring UTI’s, bladder infections.
At that point, we moved her into a R.C.F.E., residential care facility for the elderly, which is a state regulated non-medical facility, in a single family dwelling home, where frail, elderly individuals we cared for. The care that was provided included assistance with activities of daily living. Marcia passed away of cardiopulmonary failure in 1999 at age 49. People don’t die from Huntington’s itself, but from complications such as choking, heart failure, infection or aspiration pneumonia.
Cindy, the third sister to succumb to HD, showed symptoms at age 41 and was genetically tested at the Centre for Huntington’s disease in Canada. Within a year of being diagnosed, she was cognitively compromised, and unable to work. She filed for Canadian disability, which wasn’t enough to live on so we began sending money.
In 2000, Cindy’s best friend called John, very upset, and suggested Cindy be moved back to California to be looked after by her family. She was falling, unable to make meals and when she went out for walks with her little dog, Kayla, her friends were afraid she’d be taken advantage of, get hit by a car, take a bad fall or be arrested for being drunk in public. (HD patients look like they are drunk because of their problem with balance).
John flew to Canada, packed up Cindy, and they returned to the U.S. where she alternated living with her father and us over the next four years. In 2008, we moved her into the same R.C.F.E. Marcia had lived in and was compassionately cared for. Cindy died of cachexia, the general ill health and malnutrition, marked by weakness and emaciation, and usually associated with severe disease. She was 54 years old.
Was there a Huntington’s community in the same sense as there now is, when your family was battling HD?
My three sisters-in-law developed HD symptoms in the late 1980’s and 1990’s and, at that time, an HD community did not exist to support families. We were pretty much on our own and watching these women struggle with HD was hard and very stressful.
What sort of medical and pharmaceutical support did your family receive with managing HD? Did the support evolve and improve, or simply medicate and provide care for symptoms?
In the 1980’s and early ‘90’s, the neurologists in our community had little knowledge regarding the disease because of its rarity. A local neurologist prescribed Valium to Marcia for the chorea, which didn’t help; it just made her lethargic. Finally, in 1995 a HD clinic was opened in a metropolitan city 35 miles from our home. A neurologist who specialized in movement disorders evaluated Marcia and prescribed haloperidol (Haldol), an antipsychotic drug that decreases excitement in the brain and controls movement.
When Marcia wasn’t experiencing much relief from Haldol, chlorpromazine, another antipsychotic drug, was prescribed but both drugs worsened her involuntary contractions (dystonia) and muscle rigidity. Unfortunately, Marcia’s chorea was severe and for the remaining years of her life, the chorea was never controlled. Haldol positively affected Cindy’s chorea, but she did suffer from the muscle rigidity.
John and I experienced so much sadness watching both sisters become isolated because HD patients eventually become so hard to physically handle that it’s difficult to involve them in normal activities outside the home or facility. This causes their world to become very small. In the late stages of the disease process, when we did take Marcia or Cindy out, they had to be strapped into a wheelchair with a helmet on and most people’s reactions when seeing them was of shock and stares.
There still is no cure for Huntington’s disease and Progress has been slow for medications to relieve HD symptoms, especially for the chorea. Today, tetrabenazine (Xenazine), approved by the U.S. Food and Drug Administration, is prescribed for chorea. Newer drugs used for controlling chorea, such as risperidone (Risperdal) and quetiapine (Seroquel) may have fewer side effects than Haldol and chlorpromazine.
As of April 5, 2017, the U.S. Food and Drug Administration approved deutebrabenazine (Austedo) tablets for the treatment of chorea associated with Huntington’s disease. Dr. Vicki Wheelock, M.D., Director, HDSA Center of Excellence at University of California, Davis California has a list of drugs used for cognitive, psychiatric symptoms, sleep difficulties, chorea and dystonia and medications for juvenile HD.
Please see this link for more information about medications used for Huntington’s Disease.
What is wrong with current medical services for HD?
Medical services available may differ between countries, so I will only speak to medical services in the U.S. Our medical system doesn’t provide the needed medical services for HD families.
In my opinion, these are several reasons: Since HD can strike during prime working years, which results in loss of income, health insurance can be lost to a family. Purchasing health insurance can be expensive and many HD families struggle financially so receiving medical benefits and care can become an issue. Huntington’s Disease Society of America (HDSA) is advocating to our government managed healthcare program, Medicare, to waive the two-year waiting period for HD patients, ensuring individuals receive critical health benefits and care in the early stages of the disease. The name of the reform is The Huntington’s Disease Parity Act.
Secondly, a huge concern for HD families, not addressed by our medical programs, has to do with HD being a progressive disease with a decline usually over a 15 to 20 year period. At a certain point in the progression of the disease, HD patients will need assistance in their daily life, eating, toileting, dressing, showering, preparing meals. This type of assistance (care) is called custodial care, a provision of services and supplies for activities of daily living that can be provided safely and reasonably by individuals who are neither skilled nor licensed medical personnel. In the U.S., government healthcare programs and private health insurance do not pay for this level of care, so family members provide it or a caregiver is hired and paid privately. This causes grave financial consequences to a family since privately paying for a caregiver is expensive.
Many times, a spouse will leave their job to take care of their loved one, which results in loss of income. The years of caring for a loved one is stressful and physically difficult and many times, when caring just becomes arduous, families will place their loved in a skilled nursing facility (nursing home), but once again, insurance doesn’t pay for it. In the U.S., there are two ways to have this level of care covered: apply to a state run Medicaid program, which are for low-income families that have no assets.
The HD individual then becomes the ward of the state. Nursing facilities can only take a certain number of Medicaid patients, because of low reimbursement, so the patient could be placed in a facility far from family members. The second alternative is to purchase long-term healthcare insurance, which once again is very expensive. One needs to be proactive and apply before a loved one is diagnosed or shows symptoms because HD patients will be denied if they have been diagnosed. We applied for long-term healthcare insurance when John in his 30’s, through a group plan at John’s place of employment and still have the policy even though he was tested last year and was negative.
John and I provided custodial care for Marcia for years before we hired someone to assist her. John’s father did the same for Cindy in his home for four years until she became incontinent and unable to walk and eat without assistance. The R.C.F.E. facility where Marcia and Cindy lived was very expensive and also not covered by health insurance because no there is no skilled need. (Skilled need is care only a licensed nurse/licensed vocational nurse can provide) Luckily, Marcia had a good retirement that allowed her to privately pay and John’s father paid for Cindy to live there for four years.
In the U.S., the Huntington’s Disease Society of America has addressed some of the access to care challenges HD families face. HDSA has 41Centers of Excellence that provide an elite multidisciplinary approach to Huntington’s disease care. At all these facilities, patients benefit from expert neurologists, psychiatrists, therapists, counselors and other professionals who have deep experience working with families affected by HD who work collaboratively to help families plan the best HD care program throughout the course of the disease. These centers are a blessing to the HD communities across the country. As I said earlier in this interview, the Huntington’s Disease Parity Act needs to be passed so HD families have access to medical care not related to Huntington’s disease.
How does the current “Huntington’s culture” compare to the past?
I believe the HD culture has changed through the years and attitudes are different because, through medical research, the HD community has a greater understanding of the disease. Like so many families with a history of HD, the Marin family kept HD a secret because of the stigma associated with the disease. When John’s mother was exhibiting hallucinations, violent outbursts, showed signs of depression, doctors diagnosed her mentally ill and locked her up in a mental hospital for 18 years. Now that medical providers know so much more about HD, patients are treated with compassion and family members are supported. Today, the Internet, specifically Facebook, has given HD families an open forum to openly discuss problems, seek advice from others in the same situation.
How do you view government responses to HD care, research and treatment?
I’m not an authority on government funding or research for HD but certainly support increased expenditures and government resources to help find a cure for the neurodegenerative diseases.
One of the problems with HD awareness is the sheer scale and scope of information requested to understand the basics of HD. I know as an outsider to the HD culture that even learning the basics about Huntington’s can be a very steep learning curve. How effective would you say current media information about HD is in spreading the word and getting effective responses from governments and researchers?
Heightening HD awareness is very challenging for many reasons. I have found when explaining HD, I cannot describe it in one sentence because of the complexity of the disease. And to compound the complex explanation, and being a rare disease that affects a relatively small population, most people don’t know anything about the disease, have never seen or interacted with a HD patient so it’s difficult for them to relate.
HD doesn’t receive a lot of media coverage because of the small number of people it affects so competing against familiar diseases for a spot in the media world is complicated. Cancer, Parkinson’s and Alzheimer’s stories are constantly presented on TV, in newspaper articles, and receive high coverage for their fundraisers.
These well known conditions have recognizable celebrities that promote the disease because it has impacted their life in some way. Michael J. Fox is the poster child for Parkinson’s disease, former U.S. President Ronald Reagan is the face of Alzheimer’s, and there are many recognizable faces raising money for cancer. The HD community lacks a recognizable person to champion the disease and though I don’t wish anyone to have this disease, we need a high profile individual/family to be touched by Huntington’s disease to advocate for the cause.
In the publishing world, books specifically, there are thousands of memoirs written by people who have survived cancer, beaten drug and alcohol addiction, or overcome some other challenge in their life. After searching for memoirs and novels that include Huntington’s disease in a story, I found very few, less than 50. My book, Watching Their Dance is the first and only book written about living at risk for Huntington’s disease. The HD community needs more books that share how this disease impacts and wipes out families generation after generation.
In the U.S., Huntington’s Disease Society of America is the premier nonprofit organization orchestrating the discussion/media coverage for HD. From community services and education to advocacy and research, HDSA is the world’s leader in providing help for today and hope for tomorrow for people with Huntington’s disease and their families. There are 54 HDSA Chapters in the U.S. and I’m a member on the Northern California Chapter Board of Directors. Chapters organize fundraising events and awareness initiatives in their local communities to support the HDSA mission; to improve the lives of everyone affected by Huntington’s disease.
For more information about Therese’s book:
Her Author Website
Her Author Facebook Page:
If you’re looking for help with Huntington’s Disease:
Huntingdon’s Disease worldwide awareness campaign: We Have A Face
This organization is a great place to find support, friendly advice, and get information about Huntington’s Disease.
See also We Have A Face on Facebook. These links cover a very broad range of people involved in the fight against Huntington’s Disease.
