Fighting for Early Detection: Allison Jamison's Journey with HoFH

Allison Jamison, board member of the Family Heart Foundation, had lived with homozygous familial hypercholesterolemia (HoFH) without a diagnosis her entire life until she suffered a heart attack and sudden cardiac arrest at age 35. It was only then that she finally received her diagnosis.

In an interview with The Educated Patient, Jamison, a co-author of a recent study that proposes a set of measures to reduce the burden of HoFH, says in hindsight, it’s clear that her case was textbook, even if it wasn’t diagnosed early. At just 3 years old, she showed clear signs: cholesterol deposits in her skin, known as xanthomas, and a significant family history of early heart disease on her father’s side. Despite her extremely high cholesterol levels, along with developing aortic stenosis as a teenager, her diagnosis was delayed.

Following her heart attack, she pushed her doctors for more answers, insisting on further investigation. Only at that point, after genetic testing, did she receive an accurate diagnosis. By then, the damage to her heart was already irreversible. She had missed out on years of possible treatment and the opportunity to participate in clinical trials that might have allowed for earlier and more effective intervention.

However, getting a diagnosis became a turning point for Jamison, giving her the power to advocate for her own health. Finding medical professionals willing to collaborate with her as a team has been crucial. Today, she stresses, there are far more treatment options than there were during her childhood, providing a sense of optimism for the future.

However, she believes there's still a major gap in awareness, and it’s something that must be addressed. Even with a team of dedicated doctors, it took until her mid-30s to get the correct diagnosis. A clear diagnosis not only opens the door to appropriate care but also makes navigating the complex healthcare system more manageable. The process can be overwhelming, and she understands how easy it would be for someone to lose hope. That’s why her advice to others facing similar challenges is to stay persistent — gather as much information as possible, push for answers and never lose hope.

Support networks, like the Family Heart Foundation, have become essential in her journey, as they provide valuable information and a sense of community. Early intervention can make all the difference, so she emphasizes the importance of fighting for the care that patients and their families deserve.