Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.
Revving for Hope: Raising HoFH Awareness in One Ride
Scott R. had always considered himself to be a picture of good health. A single father of three children, Scott did whatever he could to keep himself well—and to make sure that he could give his all to his children.
The gym became a place of respite. Scott, then 43, was a frequent gym-goer, growing stronger and more capable each day.
Then the shortness of breath began: slowly at first, though undoubtedly progressive. While he had no breathing issues just weeks earlier, he suddenly found himself winded while hiking or between weightlifting sets.
The chest pain came later. After a particularly tough elliptical workout, Scott called his doctor. A stress test was scheduled the next morning. Says Scott:
“The stress test led to an angiogram, which led to an emergency quadruple bypass surgery to save my life from a fatal ‘widow-maker’ heart attack that would have occurred within the next two or three weeks.”
As he recovered, a nurse suggested that Scott’s children have their cholesterol checked. All three had high cholesterol. Chloe, Scott’s youngest daughter, had a total cholesterol level of 790 at just five years old. For context, the University of Rochester Medical Center explains that children between 2-19 years old should have a total cholesterol level of under 170 mg/dL.
On the one-year anniversary of his surgery, Scott and his children were visiting a lipid disorder specialist at UC San Francisco to learn why they had high cholesterol. Testing showed that Scott and his two oldest children had an inherited form of high cholesterol called familial hypercholesterolemia (FH). The diagnosis, at the time, tore through the fabric of normalcy in his life. Perhaps more worryingly, Scott soon learned that Chloe had a rarer and more severe form of FH called homozygous familial hypercholesterolemia (HoFH).
Navigating the maze of medical consultations and health-related unknowns has been challenging. Yet Scott and Chloe have not just persevered but taken action. United by their shared passion for motorcycles, the father-daughter duo has embarked on an unconventional crusade to raise FH awareness. In a discussion with Patient Worthy, Scott shared his family’s story and how their custom-made motorcycle became a vessel for advocacy.
What is Homozygous Familial Hypercholesterolemia (HoFH)?
As Scott explains, there are two forms of familial hypercholesterolemia:
“In the heterozygous form, there is a single genetic defect that regulates cholesterol. In the homozygous form, there are two genetic defects (one from each parent) of genes that regulate cholesterol.”
An estimated 1 in every 300,000 people worldwide has HoFH. Without treatment, low-density lipoprotein (LDL) cholesterol levels can rise to 4x the normal level.
Symptoms of HoFH include painful, cholesterol-filled bumps on the skin called xanthomas that Scott notes can make it difficult to wear shoes; yellowish fatty deposits called xanthelesmas; white or gray circles on the corneas; chest pain; shortness of breath; and a rapid heartbeat. People with HoFH may also experience potentially life-threatening complications such as cholesterol blockage of smaller arteries, peripheral artery disease, heart disease, heart attack, or stroke. Says Scott:
“The day I learned about the diagnosis quickly became the worst day of my life. I learned that kids as young as two years old can have heart attacks from HoFH. Many people think that high cholesterol is an adult-lifestyle disorder from eating too much bacon. That’s not the case with FH, which is the danger of this condition. My five-year-old daughter didn’t look like a heart attack waiting to happen, but at the time, it could have. I was devastated when the doctor told me that life expectancy is adolescence without aggressive treatment. That was the cruelest joke of all: that I might be allowed to live just to watch my youngest child die. After the grief passed, I realized that the reason I had survived was to save my daughter’s life.”
The Need for Diagnostic Improvements
In 2012, after learning about Chloe’s HoFH diagnosis, Scott went online. His fervent searches for information on HoFH brought no information. Even today, he shares:
“There isn’t enough information circulating on familial hypercholesterolemia. Most healthcare professionals have not heard of FH. It’s challenging to battle a rare disease that few people know about. It makes for a long and lonely journey with few wins. As a parent, the time following diagnosis is scary and overwhelming. It takes a while to learn how to live with FH. For many years, I worried about Chloe every day. I even took a CPR course thinking I might have to perform it on Chloe. I believe that doctors could do more to educate themselves and to support both children and families after diagnosis.”
Another avenue that Scott thinks is needed in the diagnostic process is better diagnostic protocols. He notes that many physicians and pediatricians do not screen for familial hypercholesterolemia even though there is guidance to test cholesterol levels at age two if a child has a family history of heart disease. Implementing stronger guidelines and encouraging physicians to test could allow children to learn about and manage their conditions sooner.
HoFH Treatment
When Chloe was diagnosed with HoFH, there were limited treatment options available. Children were treated with LDL apheresis, statins, or other medications designed to lower cholesterol. Because of a lack of treatment options, many patients were told that they would not survive into their 20s. Scott shares:
“It’s not a great place for a child to be, thinking that they don’t have a future. We need more mental health support for those affected. With Chloe, we used Crestor, Zetia, and LDL apheresis to attempt to manage her cholesterol. Her LDL levels remained dangerous. Chloe didn’t have hope for a future beyond age 20 and was not planning on going to college.”
In 2023, the treatment landscape for HoFH changed dramatically with the pediatric approval of EVKEEZA, which was initially approved in adults in 2021. EVKEEZA is an angiopoietin-like 3 inhibitor that can be used as an adjunct to other lipid-lowering therapies to treat high levels of LDL cholesterol in children as young as five years old. It was the first therapy that effectively lowered Chloe’s cholesterol. Scott explains:
“With EVKEEZA, we can truly say that her condition is being managed. EVKEEZA has changed her whole outlook on life. She’s beginning to plan for her future…including college. For me, EVKEEZA has given me peace of mind that after 13 years of struggling, she is finally in a safer place.”
A Few Rides to Remember
For as long as he can remember, Scott has loved riding motorcycles. The feeling of “flying” and freedom just brings him more joy than he can describe. Chloe is his only child who shares the same passion. With a laugh, Scott says:
“Maybe there’s also a ‘love of motorcycles’ gene.”
Scott and Chloe never planned to create a custom-made motorcycle for FH awareness. But the seed was planted when the pair began taking rides together. Scott explains that Chloe was often teased in middle school about how frequently she missed school:
“She struggled to come to terms with her HoFH and didn’t want to talk about it. To help her, I would take her on motorcycle rides. She loved it. All motorcyclists know that adrenaline is the best cure for depression. These rides really helped her—and me, too. Then one day she told me that she qualified for Make-a-Wish. That was the most soul-crushing thing I’ve ever heard. I thought to myself, ‘You want a wish? I’ll give you a wish!’ So I began teaching her how to ride. The day before the pandemic shutdown, I was looking for a bike I could ride with Chloe and later give it to her. I ended up with a Kawasaki bike and decided to customize it to make it more fun for her.”
Over the course of the pandemic, Scott and Chloe thought about ways to improve every detail of the bike. Chloe improved her riding skills and confidence, and Scott shares:
“Soon, she was known as the girl who rides motorcycles and not just as the kid with a dangerous health condition that nobody understood.”
Their motorcycle was painted by a classic hot rod painter to represent the genetic defects associated with FH—and is probably the only FH awareness-themed motorcycle in the world. As Scott says:
“This motorcycle is a conversation starter and has the potential to save lives. If we can get people discussing this, it would be transformative. 1 in every 250 people has FH. Since FH doesn’t skip generations, you’ll never find just an FH patient. You’ll always find an FH family. I don’t want people to learn about FH by having a heart attack with a 50% chance of survival, or to have permanent damage that impacts their quality-of-life. With knowledge and early treatment, you can add decades to a child’s life and all their following generations will have that knowledge too.
If I had died from my cardiac event, nobody may have checked my kids. The cycle of cardiac problems would have been repeated. Chloe’s HoFH would have been a time bomb that could have killed her before she graduated high school. We can prevent this through awareness. This motorcycle has taught me how sharing even a small bit of information about FH can have such a huge and lasting impact.”
Revving for Hope
Outside of starting conversations with his motorcycle, Scott is committed to sharing his and Chloe’s story far and wide, spreading education and providing community. He knows that managing a rare condition is a long, hard fight. By opening up about his experiences, he says:
“I show people that it’s easier to face this if everybody is doing their part and supporting each other. If you share your story with others, the reward is unbelievably satisfying.”
For those who are at the beginning of their FH journeys, know that you are not alone. There are resources available to help you on your pathway. For newly diagnosed patients or families, Scott offers advice:
- Learn all that you can about FH. Once you know how this monster hunts, you become empowered. Over time, you learn how to live a great life.
- The world of high cholesterol (especially online) can be confusing. There are misconceptions about the dangers and treatments of high cholesterol. Go to doctors who have experience treating FH patients. So many providers still don’t understand how dangerous FH can be.
- Don’t let anybody tell you that your diet caused or can cure FH. That is false. If you deal with the implication from others that you did this to yourself—you did not. You were born with FH. It is not your fault.
- Don’t ever lose hope. Help is available.
If you are looking for support, consider getting in touch with the Family Heart Foundation.
