I just realized I never posted about the first annual HoFH (Homozygous Familial Hypercholesterolemia) Gathering I ever went to, in Amelia Island, FL in April of 2024.
And this year, in 2026, I just attended my third gathering, this time in San Antonio, TX. Last year, we met in Orlando, FL for the same event (https://livingwithfh.blogspot.com/2025/12/2025-homozygous-fh-gathering.html). Every year, the organizers, The Family Heart Foundation (https://familyheart.org/), manage to increase the size of our crowd, which is no small feat, given that this is a rare disease: it is believed that there are only about 3 in 1 million people with this condition.
This is me, during the conference, and in the Texas heat at The Alamo and on the San Antonio River Walk.
This year, we had 19 individuals with HoFH meet in San Antonio, TX during a hot week at the end of July. This would mean that you’d have to corral the entire population of Denmark or roughly 85 NFL football stadiums packed to maximum capacity to find us! This is how monumental the reach of The Family Heart Foundation is. What they do for us, though, is far larger a story than numbers alone can tell.
The gathering welcomes individuals with HoFH who can be accompanied by a family member to a day and a half of community gathering, sharing, and training about all things HoFH - a genetic and severe disease that ultimately can cause premature heart events (like heart attacks) and strokes, if untreated, and even death. According to some sources, an overwhelming 95% of people world-wide are currently undiagnosed. This is largely because it is vastly invisible and because the guidelines for testing for it are not in place yet everywhere.
During the gathering, everyone gets a chance to share their story, starting with diagnosis and up to today. They share their family history, talk about their parents and grandparents, extended family, and about their children. There is no script and everyone is welcome to share as much or as little as they feel comfortable. But this is how we open the event, on the first night, and it is a great way to know everyone and to start the conversation that would last through the entire time we’re together, and sometimes beyond.
This is my favorite part of the gathering - when we all feel a little bit less alone and very much part of a tribe, walking some of the same paths. We share the good, the bad, and the ugly of our treatments, which in most cases are not for the faint of heart. We laugh when we relate to some of the stories, like a drug several of us tried that causes explosive, uncontrollable diarrhea or another one that tastes like chalk and which most of us flushed down the toilet when we were kids, when our parents weren’t watching. We cry and cringe when people share about the hard times they have with ports and fistulas they received to be able to go through the LDL apheresis treatments which most HoFH people have been prescribed.
As one of the HoFH individuals says “HoFH is tough, but we’re tougher”. And one has to be in order to handle this, as you probably have also gathered from this blog, if you’ve been following.
For another portion of the gathering, we invite doctors to share a presentation about HoFH, what it is, what some of the most important points one must know about it are, how it works and why and how it is transmitted (genetically, from your parents), and about what treatments are available and what treatments are currently under research. We have been lucky to live in an age where many drugs have been created and approved that make our incurable and once almost certainly lethal disease highly manageable nowadays.
Like in years past, this year we have had one cardiologist and another endocrinologist specialist for these training sessions. Some of the members of our community are their patients.
In addition, we invite our sponsors, who are often pharmaceutical companies, to give a presentation about what their companies provide for HoFH patients, to share what research or what programs are available now.
We also have a couple of sessions that speak about how one manages a highly impactful diagnosis like HoFH. To a lot of patients the first HoFH diagnosis is traumatic. Especially those who find out about it later in their life, after a major traumatic event (like a heart attack or a stroke) find it hard to process it. Also, those who find out about it after they realize they passed it on to their children have a harder time making sense of it all. We have trauma specialists, psychologists or grief counselors share their coping management ideas with us and this is another highly emotional portion of our gathering.
This year, one of our Foundation’s ambassadors from New York who is an author and writes about grief gave a presentation about Life, Risk and Resilience in Families with HoFH. She lives with HeFH (Heterozygous Familial Hypercholesterolemia, which is the less rare, more common form of FH) and many people in her own family do as well.
Another ambassador from California who is an artist led us through a workshop of creating art by drawing to express what living with HoFH means to us. She then made a beautiful heart-shaped quilt with all our artistic endeavors - I found it very therapeutic and cleansing as well as very hopeful in the end. She also lives with HoFH herself.
As part of our contribution to the awareness of our disease, those who feel comfortable to do so can sit for a short interview and discuss their personal journey with HoFH. We get questions about how we were diagnosed, how our diagnosis has impacted our family or maybe someone else’s diagnosis led to ours; questions about milestones during our journey in healing, managing the disease, or any setbacks, too. These interviews will be later used by The Family Heart Foundation to create awareness and share first-person accounts of what it’s like to manage this condition.
We bond during dinners, lunch and breakfast, some of us meet later at the hotel bar for a night cap and more stories and experience-sharing. In the end, we all leave as friends, and many of us exchange information so we can continue our journey of learning and belonging beyond the classroom, if you will.
It is an incredibly rich event. I have found it a little bit different every year. Some of the people might be the same, but might be in a different place than they were the year before. The medical materials and conversations around what is available for treatment are always a little bit newer. It is never boring and I always feel like I learn something new with every year, and with every talk or experience sharing.
I strongly encourage anyone who does not know where to start when they are diagnosed with any form of FH or elevated lipoprotein (a) to start with The Family Foundation’s web site (https://familyheart.org/). Their wealth of information, as well as programs like this will definitely make you feel less alone, more empowered, and might even save your life.
