In the quest to conquer chronic illnesses, members of disease communities need to build solidarity and learn from one another. I explored this theme in a 2018 article about the fellowship
that a sufferer of type 1 diabetes and I, a gene carrier for Huntington’s disease, had built in our student-teacher relationship at the University of San Diego.
On July 30, the common challenge of the daunting search for therapies for neurodegenerative diseases hit home again as I participated in the eighth international DIAD Family Conference, held at the Hilton San Diego Bayfront hotel in downtown San Diego. DIAD stands for “dominantly inherited Alzheimer’s disease,” also known by other names, including early onset familial Alzheimer’s disease.
Late onset Alzheimer’s affects more than 5.8 million mainly elderly Americans but has no clear cause. In contrast, early onset Alzheimer’s – like Huntington’s – is a rare disease with a known genetic cause. Like HD, it strikes in the prime of life, when people as young as their twenties are affected.
Both HD and early onset Alzheimer’s are autosomal dominant conditions: carriers of a mutant gene will definitely develop the disease, and their children have a 50-50 chance of inheriting the disorder. In HD, the mutant huntingtin gene is the culprit. In early onset Alzheimer’s, one of three different mutations causes disease.
Early onset Alzheimer’s is rarer than HD. Approximately 41,000 individuals live with HD in the U.S. Globally, an estimated 45,000 people have early onset Alzheimer’s.
Sadly, as with HD, there is no treatment yet to arrest the progression of the disease.
As I learned at the conference, early onset Alzheimer’s, like HD, produces devastating, ultimately deadly symptoms mainly affecting a person’s memory and behavior. Common symptoms include: abnormal social behavior, agitation, confusion/disorientation, hallucinations, hypertonia (arms/legs are difficult to move/reduced flexibility), language impairment, dementia, Parkinsonism (movement abnormality: tremor, slow movement, muscle stiffness), seizures, and disinhibition.
Gene Veritas (aka Kenneth P. Serbin) at the 2022 DIAD Family Conference (photo by Gene Veritas)
Sharing insights with an Alzheimer’s researcher
I was
invited to the DIAD Family Conference by Lindsay Hohsfield, Ph.D.,
co-founder of Youngtimers, a 501c3 nonprofit established in 2021 to promote education, support, and research for the early onset familial Alzheimer's community.
The group’s motto is: “we are too young to forget, too many to be forgotten.”
An Alzheimer’s researcher focusing on ways brain cells control inflammation, Dr. Hohsfield was inspired to enter the field after her father’s diagnosis with early onset Alzheimer’s. He died in his early 50s.
“When my father was sick, my family and I felt isolated and lost,” Dr. Hohsfield wrote in a letter on the organization’s website. “My hope is that with Youngtimers, no early onset familial Alzheimer’s patient and family will ever have to feel alone.”
Dr. Hohsfield has also explored the dilemma of “childbearing versus clinical trial participation” for Huntington’s and early onset Alzheimer’s families. Currently, pregnant women are excluded from clinical trials for those disorders. She calls for the establishment of a standard to address patient well-being and needs concerning this dilemma.
In May Dr. Hohsfield, a reader of this blog, interviewed me on Zoom about my article reflecting on the significant benefits of psychotherapy in my fight against Huntington’s. That article sparked a discussion in the early Alzheimer’s community about finding a life coach/mind coach to help cope with testing positive for that disorder and living life to the fullest. The interview with Dr. Hohsfield will be posted on the Youngtimers’ website.
Facilitating support sessions
Dr. Hohsfield and the conference organizers invited me to facilitate two one-hour drop-in support sessions for members of early onset Alzheimer’s families. Leveraging my long experience as an HD gene carrier and advocate, I was assigned to a table discussing “post genetic testing: coping with risk and how it changes over time.”
Other tables covered grief, communication, living with symptoms, and “catching your breath.”
In all, about a dozen people came to my table over the two hours. Usually, rather than having me facilitate, we exchanged ideas about genetic testing, prenatal testing, workplace confidentiality about our genetic status, securing insurance coverage, and more.
The "post genetic testing" support sign at the 2022 DIAD Family Conference (photo by Gene Veritas)
The most poignant moment came when three members of an affected family asked how to navigate tensions in the extended family over the onset of symptoms one of them had suffered. That individual, having stopped being a breadwinner, needed medical care and caregiving.
This went beyond the scope of genetic testing, so I relied on memories of similar predicaments at my local HD support group. The other members of the group and I provided a sounding board for this family, encouraging them to use the resources offered by Youngtimers and seek out local support.
At these sessions all of us quickly bonded. We found comfort in our shared plight: facing a devastating neurological disorder.
Framing HD in a broader light
The DIAD Family Conference was sponsored by the Dominantly Inherited Alzheimer Network Trials Unit, the Alzheimer’s Association, and the National Institute on Aging. It was held in conjunction with the Alzheimer’s Association International Congress, July 31-August 4, in San Diego.
In between several moving family presentations to the nearly 200 attendees, the audience heard updates from Alzheimer’s physicians and researchers on the progress of research, including ongoing global clinical trials to prevent the disorder.
As I have witnessed at Huntington’s conferences, the Alzheimer’s scientists pointed out that research advances have brought the field to an unprecedented moment in the search for treatments. Leading Alzheimer’s researcher Randall Bateman, M.D., stated that it is a question of not “if” but “when” effective therapies become available.
After the conference, I met with Jason Karlawish, M.D., a University of Pennsylvania specialist on late onset Alzheimer’s and the author of the key 2021 book The Problem of Alzheimer’s: How Science, Culture, and Politics Turned a Rare Disease into a Crisis and What We Can Do About It.
This book has helped me frame my efforts to understand the history of the HD cause in a broader, comparative light.
A deeply personal and fulfilling introduction
My participation in the DIAD Family Conference will help me to understand the strengths and weaknesses of the Huntington’s movement in comparison with others facing similar challenges. I hope that, however modestly, it helps point the way towards increased collaboration in the quest for therapies.
I look forward to learning more about early onset familial Alzheimer’s disease, its causes, and symptoms.
I was moved by the many stories of struggle, but also humor and optimism, from affected individuals and their families.
After this deeply personal and fulfilling introduction to the early onset Alzheimer’s community, I felt energized.
I look forward to when both communities can celebrate the discovery of therapies.
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