New Memoir Chronicles the Heartbreak of Huntington’s Disease

An eloquent, funny, and heartbreaking new memoir tells the story of Charise Pfeffer, who died in 2024 at age 43 from Huntington’s disease (HD), inherited from her mother and maternal grandfather. She was a soaring talent, and her father tells the tale, in his daughter’s own words.

An inherited disease that strikes every generation – until, by chance, it doesn’t and transmission halts – means that young people who have taken a genetic test can see their future in their elders. Huntington’s disease (HD) is the classic example of a condition inherited in this manner, autosomal dominant in the vocabulary of genetics.

The technical term means that males and females are affected, and just one copy of the mutant gene passes along the disease. That means every generation is affected, until, by chance, the next one isn’t. Each child of a person with HD faces that 50:50 chance; a genetic test can predict the future.

Charise knew her fate. She was diagnosed at age 29, and had witnessed the symptoms since she was 8, when her mother became ill. Charise’s father, Alan, recently published “Charise, A Woman with Huntington’s Disease Who Changed the World: Her Poetry and Memoir.”

The short book is a moving tribute to this remarkable young woman, much of it in Charise’s own poetry composed as she watched her mother’s decline and then faced her own symptoms. Until the uncontrollable movements began to affect Charise’s love of traveling, she was a humanitarian. She served two years as a Peace Corps volunteer in Turkmenistan, where she taught English and self-esteem to children. She also taught children in Thailand and Israel, and traveled the world.

Her father, author Alan, is a retired attorney and patient advocate in the HD community, championing nursing home care and leading efforts to educate legislators about how to improve care.

A Quick Science Lesson
HD is passed from parent to child with a risk of 50 percent. In the memoir, Pfeffer wisely and accurately summarizes the science in a brief preface, quickly getting to the human story. I’ll do that too.

Genes encode specific proteins. The extended gene behind HD specifies a too-long protein, huntingtin, which gums up the movement center of the brain.

HD is one of more than 20 conditions caused by a triplet of specific RNA subunits (cytosine-adenosine-guanine, or CAG) that expands from generation to generation. (RNA is a fleeting molecule that carries a gene’s information so that a cell can manufacture the encoded protein.)

Most people have 20 or so CAG copies; in HD the number exceeds 40. Charise’s was 48.

DNA Science’s Juvenile Huntington’s Disease: The Cruel Mutation told the story of a family in which the father was diagnosed six weeks after his young daughter, in 2002. He was 35, she just 6, with two other affected siblings. Karl and Karli died within weeks of each other in early 2010. The runaway gene had looped over itself as the mutation was passed on, so that young Karli inherited 99 CAG repeats.

Genetic testing can detect HD at any age, even well before symptoms begin, but this isn’t advised until age 18.

A Gifted Writer
Charise was born in Niskayuna, New York, in 1980. She graduated from the University of Maryland. Her positivity and innate humor spring from her clever words.

As a senior in high school, “Fiddler on the Roof” inspired “If I Were a Couch Tater”:

If I were a couch tater,
Yai de dai da dai da daidle ya daidde dadde de
All day long I’ll piddly away the time
If I were a lazy girl.

The disease was once called Huntington’s chorea, for the characteristic uncontrollable, repetitive, dance-like movements that include fidgeting, squirming, and jerking. “Disease” was substituted when other symptoms were recognized, such as in mood and cognition.

In 2014, Charise described the mortification of misunderstanding chorea in “At a Restaurant in Lee,” the Massachusetts town where Arlo Guthrie lives.

People stare at me

I want to glare back at them

But I’m too busy

Dropping my napkin

Picking it up

Dropping my napkin

And picking it up — again

Attempting to grasp this foreign fork and knife

As pithy pieces of lettuce

mockingly dancing and prancing,

Mexican jumping beans

they leap into the air and onto the counter

One after the other

One after the other

Could swear I just picked this one up

Damned leaves of lettuce all look alike,

without warning a flash flooding of sticky white fluid

splashes

into the bowl

everywhere

nearly falling off my chair

Drunk, they no doubt think

And I want to yell;

What are you looking at?

Lush

She’s had one too many

they no doubt think

I want to demand

Didn’t your momma ever tell you

It’s rude to stare.

Years later, Charise returned to the theme of presumed drunkenness in an anecdote. She was visiting the Bahamas, loading her luggage onto a bus, weaving back and forth.

“Some guy looked at me, and started joking, ‘How many Bahama Mamas have you had?’ Another guy chimed in, ‘She’s three sheets to the wind!’”

She wished she’d said:
“HD affects your balance.
HD affects your cognitive and motor skills.
HD affects your judgment.
You’re treating me in a way that’s really disrespectful and embarrassing.”

Eloquently Capturing Her Plight
Charise was achingly self-aware. Her words bring the reader into her predicament.

“At 32 I find myself trapped
There is no cage and yet every day
the bars grow stronger and stronger around me …
My swiss-cheese-holed memories
Through feelings and brains
As the pen slips through my grasp (yet again) wicked pen!”

If her brain is a Swiss cheese, then her whole body is a tree, in the poem Deadining.

Delicately separating the vivid bright green
Thriving living leaves
From the dark decrepit ones
The ones that without a whimper
Without a whisper simply crumble into dust
A tougher task than one might imagine
Turning over the robust stems to reveal
Dark decaying summer
Hidden underneath
Foraging past glorious lush
Vibrant stems
Deceivingly healthy
On the outside
To reveal the mottled yellow-brown parts
Dying on the inside
Must be careful,
Nimble decisive in this endeavor
Attempting to save the precious purple and pink bulbs
As I must to myself am I more jealous of the plants who will live healthy lives
Or those who get to die quickly quietly simply and with dignity.

Public Outreach
Father and daughter chose not to hide HD, but to inform others, through public education and advocacy. “My greatest accomplishment was getting the State of New York to agree to pay a higher reimbursement fee under Medicaid for specialized nursing homes treating HD residents,” Pfeffer writes.

For many years he and a social worker trained sheriff’s offices, corrections officers, 911 offices, and police to recognize when a suspect might have HD. He was instrumental in supporting the Medical Aid in Dying (MAID) Act, which the New York State legislature passed in 2025 and now awaits the governor’s signature. I hope that she signs it.

Charise’s advanced directives were crystal clear: no feeding tube, no antibiotics, no ventilators, and a DNR on file at the nursing home where she spent her final years.

The last entry in the book, Hell Piece, stays with me, in its simplicity and profundity.

Charise is a junior in high school, imagining the horror that is her mother’s life, but written in the first person. Perhaps she was envisioning her own future.

In Hell Piece, a woman sits propped up in her nursing home recliner in her room, watching people walk back and forth in the hallway under the constant fluorescent lights. An annoying man hawks a stainless-steel vegetable knife on the blaring TV, on and on. Then an inquisitive fly begins to torture her, landing here and there, as her body betrays her, rolling her head back and forth in the eerie repetitive motions of HD.

After lamenting the gross hairy legs of the buzzing fly, Charise imagines it landing on her trapped mother.

“I wish I had more control. The fly has landed on my thigh! I can see its horrid black leg front legs rub together in anticipating of biting my pale unsuspecting innocent skin. If only I could move my hand, I would curl my fingers into a fist and come down hard on that thing! Squish! Ugh! That would teach him a lesson, all right. Thankfully, the wretched beast takes off in search of a more ambulatory victim.”

Charise passed away on May 5, 2024, suddenly and peacefully, her heart stopping, before she became completely rigid and unable to move. Her father was thankful for that.

CODA
My family does not have HD, but I have had a curious connection to it throughout my career, as a geneticist and science writer.

My first ever newspaper article was about the disease. A clipping somehow found its way from Bloomington, Indiana, where I was pursing my PhD, to Marjorie Guthrie, Woody’s wife. She wrote me a letter that I shoved into a back pocket, and when washing my jeans, I found it. She invited me to meet her the next time I was in NYC visiting my family, and I did – she and Arlo encouraged me to go into science writing.

In my first faculty position at Miami University in 1980, a student, Margaret Wallace, worked in my lab, and then went on to do her PhD research in Dr. Michael Conneally’s lab at the IU School of Medicine in Indianapolis.

In 1983, very late one Tuesday night, she called me, excited. In going over data, she realized that her team had discovered the Huntington’s marker in blood samples that researcher Nancy Wexler and her team had collected from a huge family with HD in Venezuela. Having the marker made possible presymptomatic diagnosis and paved the way for discovery of the gene a decade later.

Then in 2014, I began volunteering for Community Hospice in Schenectady. My first patient was a man with HD who was the same young age as Charise when she passed away. I shared music with him on my iPod, nearly every day for his remaining months, he communicating with raised eyebrows to my yes-or-no questions.

I self-published a very awful novel about the experience (I should stick to non-fiction). Shortly before he passed, trapped in his body, the movements long since ceased, I called Dr. Conneally to ask why my patient couldn’t close his eyes. “Ricki, he can no longer blink.”

A few years later, I worked for the Cure Huntington’s Disease Initiative Foundation, sitting in on private research workshops and writing up technical reports on the brainstorming discussions.

So I was excited to learn about Alan Pfeffer’s marvelous book. It is available at Amazon.