by Seth J. Baum, MD

Flying back from the FH Foundation’s third annual FH Summit I was suffused by assorted feelings and thoughts. I attend many meetings; yet, this one is unique. A conglomerate of stakeholders congregate to discuss past, present, and future issues about a disease that has only recently captured the hearts, minds, and even awareness of most physicians, laypeople, payers, and policy makers. During the event speakers spanning the gamut from patients to economists to the most prestigious researchers and clinicians share their views with an audience that is also more than just “an audience.” Everyone in the group knows FH. And everyone contributes to the discussion. The meeting is a true think tank, comprising experts possessing varied perspectives. So intellectually, the Summit is in many ways unparalleled.

Then there are the emotional elements. FH devastates families. Perhaps most significantly it does so when victims are at ages when they are not supposed to suffer heart attacks, bypass or valve surgery, or even death. Imagine a four-year-old gleefully romping in a playground, unexpectedly falling to her knees to die from a heart attack. Everyone at this meeting knows of individuals who’ve suffered that fate. Or a 30-year-old mother of two in the throes of an MI being frantically rushed to the hospital as her children and husband wonder what will be. Others are just hitting their professional stride when they too are brought to their knees because of premature heart disease. We all also know of those whose diagnosis was overlooked by very well-educated physicians for so many years that they’ve lost the opportunity to avoid what could have been avoidable had they only understood the high prevalence and specific signs of FH. These realities evoke emotions ranging from anger to despair to hope, but mostly sadness. Seeing young, vibrant people die when they might have been spared is heart wrenching. At the meeting we paid tribute to a magnificent young man – the father of a toddler – who had suffered from FH his entire life (as a genetic disease, it begins in utero). Generously, throughout his life he had permitted himself to be the subject of many clinical trials that irrefutably helped saved many others’ lives. Yet, he passed away this year from a premature heart attack. I had the privilege of knowing him, and his death brought me to my knees.

In the end though we all move on. But moving on for the FH Foundation is exceptional. It means continuing to grow a worldwide network comprising all ranges of thought leaders. It means developing programs to identify the millions of currently unidentified FH patients not only here in the US, but also around the globe. Moving forward for the FH Foundation means never giving up. It means spreading the word that time, in the case of FH patients, means plaque. And plaque can maim and kill. We in the FH Foundation, and our partners far and wide, will continue to explore the science of FH, develop new medications such as the PCSK9 inhibitors, lomitapide, and mipomersen to thwart its effects, and teach healthcare practitioners how to identify and treat FH. Mostly though we will care for our FH friends to help them manage their disease. Today we have hope that someday – perhaps not so far off as many might imagine – we will even cure FH.

Connecting a group of passionate people equally vested in a common cause leads to something most special of all. It creates a true family. Our family cares deeply about its brothers, sisters, children, parents, and distant relatives whom they might not have ever met. It is this feeling of family that strikes me as most extraordinary. I am deeply grateful to be part of such a profound and impactful group. Please explore our website https://thefhfoundation.org and send your family, friends, patients, and colleagues to learn more and help us help others. We welcome you to our family.