Get to Know A Stranger on a Plane: Oregon Woman With Rare Genetic Disease Shares Her Story
Liz Bos, of Oregon City, Oregon on a plane to Atlanta, Georgia.
By Cole Goodwin
Have you ever sat next to someone on a plane and wondered what their story might be?
With the holidays just around the corner, people will be braving the airports to take some vacation time or going to visit friends and family now that covid restrictions have loosened in some areas.
If you happen to be getting on a plane this season, take a look around. You might uncover an amazing story.
I know I did.
Meet Elizabeth Bos
Age: 26,
From: Oregon City
I met her on Nov. 3rd on a plane ride from Portland to Atlanta.
She was a nervous flyer, funny, and kind. She even helped me figure out how to turn off the air and lights that were overhead on the plane.
During our conversation I discovered that neither one of us was planning to stay or vacation in Atlanta.
You see, a year ago Liz found out she has Huntington’s Disease (HD). And her ultimate destination was Wisconsin.
And I was headed to England to meet my partner’s family.
That’s when I found out an amazing and courageous fact about Liz.
On the day I met her, she was on her way to participate in a medical research study called Prevent HD in Madison, WI.
…And she was doing it in part, for her own health, and in part for her daughter.
Liz was to be one of the hundreds of individuals participating in a study funded by the National Institutes of Health. The study’s purpose was to detect early signs of Huntington’s Disease, a rare genetic disease, which ends in crippling neurological trauma and usually ending in an early death.
American songwriter Woody Guthrie - Author of This Land is Your Land - was a writer and political activist who died with Huntington's disease in 1967 at age 55. His muse inspired, in part, the likes of Bob Dylan and Pete Seeger.
Liz said she had a four year old daughter who may also inherit HD, and that she hoped her participation would help ease her conscious - and help to push science ahead so that it just might help her four-year-old daughter in the future.
What is Huntington’s Disease?
HD affects 1 in 10,000 Americans. It is a degenerative disease that causes nerve cells in the brain to break down over time. People suffering from it get dementia, a progressive loss of mobility, lose the ability to communicate and comprehend, and have psychiatric disorders.
DNA
Humans have 23 pairs of chromosomes that make up their genetics. HD is caused by a gene found in chromosome 4.
The DNA segment known as a CAG repeat is made up of a series of three DNA building blocks that appear multiple times in a row. Normally, this segment is repeated 10 to 35 times within the gene.
But, those with 36 to 39 of them may or may not develop symptoms of HD.
Those with 40 or more repeats will develop symptoms of HD over the course of their lifespan
…And those with 60 or more CAG repeats experience Juvenile onset HD.
“Basically if you have more than 40 CAG repeats then you have the disease,” said Liz. “My repeat is 45, so I probably won’t see symptoms until my late 40’s, early 50’s.”
Liz also has a brother and a four-year-old daughter who is at risk of inheriting the disease.
Liz Bos hugs her daughter. She was willing to test for a deadly neurological disease and is now participating in medical studies that will help collect data to help find a cure for the disease. It could help her daughter, if in fact, she carries the gene.
“It’s genetic. So, my dad had it and his mom had it, and because I have it, my daughter has a 50% chance of having it,” said Liz “She has to wait until she’s 18 to be tested. It’s a really personal choice to be tested or not. Of course, I’ll always want to know if she has it, because there is a chance she might not, and then we can stop worrying.
But if she doesn’t want to get tested for it-I will understand because my relationship with my daughter is more important than knowing her diagnosis. So it will be completely up to her.”
Liz said that if she had known she had HD earlier, it might have impacted her decision to have children. But with that ship sailed, she’s still doing everything she can to fight for her daughter in any way she can, including participating in medical research in hopes that doctors can find a cure.
Liz Bos and her 4-year-old daughter.
Prevent HD, like many research studies, rely on volunteers like Liz to help them gather data about this rare disease.
“We want to build a case for testing these treatments much earlier in people who are at risk for HD,” said the Prevent HD Research Team on their website. “Starting treatment sooner may help delay the start of symptoms or slow down the progression of the disease. The purpose of our new study is to develop and refine the tools that can be used in clinical trials to measure the effectiveness of treatment before the disease impacts daily life.
Some scientists think that treatments may be more likely to work when the brain is still healthy, rather than after the onset of the disease and a loss of brain cells.
“We want to plan for future clinical trials by finding and tracking subtle but measurable changes in behavior, cognition, and emotional responses that occur before the more visible HD symptoms appear,” said the Prevent HD Research Team.
However, not everyone is like Liz.
Many choose not to be tested for the disease or participate in research studies. Why? Well, the medical procedures and testing can be an emotional and physical grind.
In addition not everyone at risk of having Huntington’s gets tested for the disease.
The test for the presence of the genetic disease is a simple blood draw. But choosing to be tested for the currently incurable disease is an immense emotional process. It can takes weeks to get results. And the anxiety it creates can be excruciating.
Those who test positive for HD often endure a wide range of emotional and mental health responses including severe depression and suicidal ideation.
“It’s very common for people to commit suicide after finding out that they have it,” said Liz.
“My Dad committed suicide after finding out he had it.
And a lot of people chose not to get tested because they think their depression will be so bad or that they'll be so scared for the future that they will end their lives or that someone else in their family will end their life. It’s something we don’t talk about enough. It’s really tough on families. It’s been tough for my family.”
“The overall suicide rate is about one percent so it is increased in HD by up to ten times the national average,” said the Huntington’s Disease Society of America (HDSA). The Society is a nonprofit organization working to promote education, connect people to resources, and advocate for those with HD.
Because of the mental health risks associated with getting tested it might not be the right choice for everyone. So, some simply prefer not to find out.
But for Liz, finding out was the only way forward.
Liz Bos on the plane. Planes are great in pictures.
“It’s a very personal decision to get tested. My brother hasn’t been tested. He says he’s happy with his life right now, and he doesn’t want to be tested.
But I’ve always had a feeling that I had it. I just felt different than other people.
And I’ve always wanted to know if I had it just because I want to be prepared for the future.” said Liz.
“I want to make plans for the future. I want to be strong for my daughter. I want to be strong for my family.
And the anxiety of not knowing was really hard for me. Every misstep or every time I dropped something I was like ‘do I have it?’, and I couldn’t stand the questioning anymore. I wanted to be prepared by getting life insurance, and finding a care home to live in in the future and things like that.”
The purpose of the study Liz is participating in is to find early warning signs of HD, as well as to test new treatment methods.
To participate in the study, Liz will have to undergo several tests, including movement, emotional, behavioral, sensory, and cognitive tests, a brain scan, and a lumbar puncture to collect cerebrospinal fluid once this year and again next year. The spinal fluid collection that bathes the brain helps researchers measure a number of markers of brain health.
”The Prevent-HD study will characterize the best brain imaging, biofluid (CSF and blood) and behavioral clinical measures to facilitate effective testing of all new therapeutics,” said Kathleen M. Shannon, M.D. Prevent HD Clinic Coordinator.
Liz Bos looking chipper in her Wisconsin hotel prior to CSF collection.
“They offered to pay me $150 to participate in the study. But really I’m just doing it because I want to help the Huntington’s community. I have Huntington’s so I’m someone that they can do testing on. And I can be a part of trying to find a cure.
I have that ability.
I want to be a voice for the community because there’s a lot of people who have the disease that are unable to speak for themselves or to do anything to help themselves. And I’m able right now. So, it’s really important to me to be able to help in whatever way I can. It’s not a well-known disease, so I hope sharing my story can help spread the word.” said Liz,
“We need more testing done, and we need to find a cure. That can’t happen if we don’t educate people.”
Do you have HD, know someone who has HD or are you thinking about getting tested for HD? There are Huntington’s Disease support groups in Portland and online that can help patients, family, and friends of people with HD get support, learn about HD, and meet others who are also finding their way through this process.
Legislation to Help Now
In March, HDSA reintroduced a bill called the HD Parity Act (H.R. 2050/ S 868) which would waive the two-year waiting period for people with Huntington’s disease to receive Medicare benefits. It also waives the 5-month benefit waiting period for individuals with Huntington’s disease (HD) accessing Social Security Disability Insurance (SSDI). The goal of passing the bill would be to help alleviate some of the financial hardships endured by individuals and families coping with HD.
“The bottom line is that the HD Parity Act is a crucial bill that must be passed for Huntington’s disease families,” said Louise Vetter, President & CEO of HDSA. “Two years is too long for HD families and we need our representatives to step up and support this bill.”
Liz Bos and Cole Goodwin on the plane.
Note from the Author, Cole Goodwin:
“I was so grateful to get to know Liz on my plane ride to Atlanta. Hearing Liz’s story changed my life forever.
She encouraged me to get genetic testing done to see if I carry or may develop symptoms of a rare genetic disease called Ataxia. Ataxia has significantly altered the mobility, eyesight, hearing, and abilities of my half brother Jordan over the years but I have always been afraid to get tested and find out whether or not I carry the disease.
Soon, I hope to know for sure.
And I owe it all to that fateful day when I met a stranger on a plane.
Thank you Liz for sharing your story with me.
No matter how short or long our time here is on Earth, I hope we can find ways to make use of our time.”
Tell Me More: Ask a Huntington’s Researcher
What does the current research tell us about early stages/early detection of HD?
“Data from the Predict-HD study suggested that we can detect brain changes, sensory changes and subtle cognitive changes over fifteen years before HD is diagnosed,” said Shannon. “There are currently experimental treatments being studied to slow down the progression of HD. When we identify interventions that works, HD families will desire treatment at the earliest time - before they lose capacity to work, raise children, enjoy hobbies, and provide for themselves. The Prevent-HD study aims to provide the data to guide researchers about when to intervene and how to determine whether a new treatment is working in a person who is not yet diagnosed. In this manner, all of our research objectives are to prepare for the prevention of HD. “
“This trial (PREVENT-HD and the PREDICT-HD that came before) are the path forward to bringing clinical trials to Huntington’s gene carriers before they show signs of neurodegeneration,” said Shannon “ In order to study therapies that may prevent people from becoming clinically ill, one needs to be able to measure the earliest changes in brain function, before the symptoms (changes in cognition, behavior and movement) themselves become measurable.”
What are the promising treatments for HD that exist?
“While there are treatments for the symptoms of the illness, we have made no progress slowing or halting the death of brain cells caused by the HD mutation,” said Shannon. “We know that the mutation directs the synthesis of a mutant form of a protein called huntingtin and that protein accumulates within the brain cells. This mutant protein unleashes a cascade of abnormalities within the cells that affects every aspect of their normal function.”
“Ultimately, the cells cannot undo these abnormal processes and die,” said Shannon. “Brain cells are highly specialized and have lost the ability to replace themselves in numbers large enough to prevent the decline in neurological health.
So, the disease marches on.
HD patients decline over time and ultimately die after about 20 years of illness. Most attempts to slow or stop cell degeneration have tried to protect the cells against one or more of the functions that become abnormal, and include antioxidants, medications that improve energy production in the cells, etc., but all have failed.”
“Most recently, attention has turned to trying to block synthesis of the mutant protein using techniques that block the nucleic acid message from the gene to the protein synthesis machinery in the cells,” said Shannon. “Two very high profile studies that targeted that message were stopped in March 2021 due to early signals that they would not be successful. This was a very sad month for HD families. However, the failure of these studies has not stopped the efforts to halt the mutant protein in its tracks and there are a number of other approaches that are in early phase studies.
“We remain hopeful that we will find something to relieve the suffering of HD patients. The most important thing to remember is that every HD patient has the exact same type of abnormality in the exact same gene. In many other genetic diseases, one gene can be mutated in many different ways, or more than one gene may be involved so it is less likely a single treatment will be effective for all gene carriers. Also, we have an accurate genetic test, so we could identify every HD patient before symptoms of the illness, and apply a successful treatment to prevent the symptoms—the Holy Grail for HD researchers,” said Shannon
No Cure? Kathleen M. Shannon M.D. says the fight isn’t over yet.
“One thing I’ve learned from my HD patients is the power of hope. It’s what keeps us all going in this quest,” said Shannon.
