WASHINGTON (THE WASHINGTON POST) – The first sign of my father’s decline came at his lunchtime basketball game.
At 66-years-old, he’d always been healthy and active. Then he tripped during a game. A few weeks later, he forgot where to find the toothpicks in the kitchen. When he couldn’t recognise their house, my mom took him to the doctor immediately.
For as long as I could remember, people in my family had died under mysterious circumstances. In the early 2000s, several of them had symptoms similar to my dad’s: They fell, they forgot things, they stopped recognising their kids. They were all thought to have lost their minds.
It was only after my dad’s symptoms started that we learned the true cause: an ultra-rare disease called fatal familial insomnia (FFI).
FFI is among the same group of diseases as mad cow disease in cattle – prion diseases. They are always fatal.
As the name suggests, the condition is genetic. My family is one of only a few dozen in the world known to carry the genetic mutation. There was a 50 per cent chance my father had passed it down to me.
FFI moves quickly, with a disease course of around 18 months. In that short time, abnormally shaped proteins in the brain spread at an exponential rate: When one comes into contact with a normal protein, the latter becomes abnormally shaped too.
Symptoms include persistent insomnia, paranoia, hallucinations, panic attacks, memory loss, rapidly progressive dementia leading to a complete loss of motor control and speech, then coma and death.
My father was told he had six to 12 months to live in 2019. He was “lucky” to fall ill relatively late in life. Several of his cousins, uncles and aunts died in their early fifties; my youngest aunt succumbed at 42. At the time of my dad’s diagnosis, I was 35 years old.
I had to know if I carried the genetic mutation. Along with several of my family members, I decided to join a study on the early diagnosis of prion diseases at the University of California, San Francisco. I took a blood test, along with the same battery of neurological exams as my father, and waited to find out if I was going to die the same brutal way.
The fear of knowing
Just as my genetic test results came in, so did the pandemic and quarantine. Some of my family members opened their results privately. But coping with my dad’s failing health and the isolation of the pandemic was too overwhelming. I couldn’t bring myself to open the results.
It turns out this is not uncommon.
“Most people don’t want to know their genetic status,” said Michael Geschwind, a professor of neurology at the University of California, San Francisco, who is a specialist in prion diseases.
Geschwind treated my father and is conducting the study on early diagnosis. He advises patients to delay knowing their genetic results until they get the proper counselling and understand all the implications of their decision.
After discussing it with my therapist, I decided to give myself time. It seemed wrong to receive life-changing information until I could be with my loved ones to either celebrate the good news or process the fact that my life would soon begin to end. I did what I could to spend every available minute with my dad, while simultaneously learning as much as possible about his disease.
Determined to contribute to Geschwind’s study, I interviewed relatives about our family history of rapidly progressive dementia and gathered as many autopsy reports as possible. Geneticists at UCSF determined from analysing our family tree that FFI likely reached as far back as my great-grandmother.
My dad had been an avid basketball player for decades. He played full-court basketball every day with his work colleagues and could shoot three-pointers with impressive fluidity and ease.
It was terrifying to see my dad, an electrical engineer, unable to do basic math problems. A lifelong lover of learning, he had been enthusiastic about science, math, history, poetry and literature. Once prion disease limited his mobility and his ability to read, my mother began teaching him to paint. Together, they painted until he could no longer hold onto the brush.
By his 68th birthday, in July 2020, he couldn’t speak or move what was left of his atrophied body. His control of his eyes and eyebrows, and his grunt, “Mm,” were the only ways we could communicate for the last six months of his life.
After a long and agonising year, he died on Thanksgiving weekend of 2020.
Opening the envelope
Some of my friends had hilarious answers about what they would do if they knew they had the mutation.
What if the key to a good and happy life was so simple? Knowing when you will die.
I understood that if I carried the genetic mutation, my life would be cut short and the months leading up to my death would be a nightmare. I also knew that I might have a chance to fight the disease: Researchers studying prion disease are working to find ways to slow – and even thwart – its progression.
“We have more hope now than we did 10 years ago,” said Sonia Vallabh, a senior group leader at the Broad Institute who carries the mutation for FFI. “There will be a race to the first drug, and then a race to the best drug.”
As the world started opening up again in early 2021, I was ready to get my results. Over Zoom, I watched as the team at UCSF opened the slip of paper inside the sealed envelope that had been waiting for me for over a year.
I was negative.
I didn’t carry the mutation for FFI. I could live out a healthy life span – as long as nothing else got me.
I felt a strange, conflicting combination of guilt, relief and dread. I wouldn’t suffer as terribly as my father had, but it’s possible the disease isn’t done with my family. Not everyone has tested and some don’t plan to.
My intention to live a full life is perhaps one of the greatest gifts my father could have inadvertently given me. Every morning, my dog Koa, an extremely fluffy, rambunctious Samoyed-Husky mix, is truly excited to be alive. She greets the day with pure unbridled joy. And when I think about her life expectancy, it really makes perfect sense. She doesn’t have a lot of time to waste on things that don’t inspire happiness – and neither do I.
Mutation or not, that’s definitely what my dad would have wanted. – CINDY LAM