Bridging the Huntington’s and early onset Alzheimer’s disease communities: a report from a family conference

 

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.

Giving back during the COVID-19 pandemic

Many advocates for Huntington’s and other rare diseases work passionately and selflessly for their causes.

Now, as the coronavirus pandemic rages, more and more people around the globe want to give back. 

We are all witnessing the testimonies of the doctors, nurses, and other healthcare workers who offer front-line care for the patients hit with COVID-19, the disease caused by the virus.

As a Huntington’s gene carrier who lost his mother to the malady, I, too, want to help – in part because the crisis has postponed or forced online so many aspects of the HD cause (more on this in an upcoming article).

HD activists can and should do their part to help alleviate this crisis!

Preparing for a surge of patients

Worried about the flood of reports about shortages of personal protective equipment (PPE), I reached out to Yale University class of 1982 colleague and freshman roommate Peter S. Kieffer, M.D., an emergency room pediatrician, to see if I could help, perhaps by organizing an online campaign to support him and his institution. Dr. Kieffer works at HSHS St. John’s Hospital in Springfield, IL. An assistant professor at the Southern Illinois University School of Medicine, he also advocates for the chronically mentally ill through Independence Center. 

In 2014, after decades out of touch, Dr. Kieffer wrote in an e-mail that he had discovered this blog and my family’s struggle against HD.

“My heart goes out to you and your family as I have been long aware of the challenges of Huntington's disease, its genetic transmission, and the implications of early testing but have never known anyone personally with the diagnosis,” Dr. Kieffer wrote.

Since then, he and his family have donated generously to the Serbin Family Team in the annual Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA). Several years ago, they visited us during their vacation in the area.

In his response to my March 28 e-mail, Dr. Kieffer explained that “physicians in rural Illinois have had more time to prepare for COVID-19 than our colleagues in big cities.”

“Numbers were small, now cases are becoming more frequent, and we are preparing for a surge in the next few weeks which could very easily surpass the ICU bed and ventilator capacity of our two hospitals,” he wrote. “However, Governor [J. B.] Pritzker's early shutdown may help blunt that curve. Although COVID-19 typically sickens children with less severity, they could still pass it to a white-haired pediatrician like myself! Fortunately, we still have enough PPE for what we need.”

So far, Dr. Kieffer has treated a young child who was a “Patient Under Investigation,” although tests have not yet confirmed COVID-19 in any of his patients, he wrote in an e-mail today.

Dr. Kieffer agreed to contact me should his institution need aid. I know that I personally cannot send PPE or medical equipment, but raising awareness about the local predicament and raising funds could be a way to assist.

Peter S. Kieffer, M.D. (photo by Southern Illinois University School of Medicine)

Donating critically needed blood

There are other ways I - and you - can help now.

After seeing an American Red Cross blood drive appeal on TV a couple weeks ago, I scheduled a donation for March 30. 

Last week, I suspended my minimal meat diet to raise the iron levels in my blood, as recommended by a Red Cross employee, who set me up for a “power red” donation (double the number of red blood cells).

That employee also told me of a critical shortage of blood, as reported by the Red Cross and in the media (click here to read more).

At the donation center, an employee took my temperature at the door, to make sure I had no fever and, therefore, possible COVID-19 symptoms. Donors were spaced about eight feet apart, to avoid contamination, and the nurses and other workers wore not only the typical gloves, but also masks.

Unfortunately, in a pre-donation pin-prick blood test, I fell just shy of the necessary iron level for a power red.

However, I was able to make a simple “whole blood” donation.

Gene Veritas, aka Kenneth P. Serbin, at an American Red Cross blood donation center in San Diego (photo by Gene Veritas)

Running risks for the common good

On the way home I thought: in any public place, we all run the potential risk of contracting the coronavirus, even at a facility like the Red Cross. 

I washed my hands very thoroughly, twice at the facility, then again at home. None of the donors, nor I, wore a mask. However, I may on future trips to public places, given the increasing number of reports about their effectiveness in blocking droplets that might contain the virus.

Like so many other HD gene carriers, I’ve spent many moments monitoring myself for symptoms. Now, I’ve started doing that for the virus.

However, physicians like Dr. Kieffer, first responders, grocery store workers, and so many others risk their health daily for the common good.

We all need to embrace the spirit of Dr. Kieffer’s words to me, echoing one of the signs at the Red Cross: “Thanks so much for your life-giving donation!”

Above, Gene Veritas' blood pack, and below, Gene Veritas in a donor chair at the American Red Cross (photos by Gene Veritas)