If you were to check out my Facebook page, I probably look like a pretty typical 41-year-old woman. I married my high school sweetheart, and in July we will celebrate 20 years of marriage. I have two beautiful children, one boy and one girl, between whose activities I am constantly shuttling back and forth. I have a rewarding career in higher education at an amazing university, and my weekends are full of activities like golf, swimming, home projects, and playing with kids and dogs. Idyllic, perhaps, and it is. But what you might not know from first glance is that, in addition to all those things, I am also living with Homozygous Familial Hypercholesterolemia (HoFH), a lifelong, and life-threatening, condition.
For anyone living with a rare disease, it can be hard to find a lot of information to learn about your condition. When I was younger, before the days of the internet, information available to patients was very limited. Now, while there is greater access to more information, many times the information I was able to find was very scientific and designed for medical experts (and thus hard to follow!), or the information I found was old and outdated. I distinctly remember finding, in 2013, an article from 1980 which plainly stated that HoFH patients were not expected to live beyond their early teen years. And as I sat there reading that article, at 38 years old, I thought – Wait – this is not me! This is not my experience!
I knew that there had to be more information than what I was finding, and more people who had experiences like mine. I eventually found the FH Foundation, and had the opportunity to connect with other HoFH patients who, like me, were not living those lives outlined in that dated article. And what I have learned from connecting with those individuals has been a much more similar experience to my own life than anything else I had read. We are all living our lives – as professionals, as parents, as children, as athletes, as members of our community – and doing our best to stay healthy.
So what is my life like living with HoFH? Honestly, for the most part it’s pretty normal. Yes, I take daily medication, but I have done that since I was 5 years old, so I don’t even think about that anymore. It’s like brushing my teeth – it’s just a regular part of my day. I’ve been fortunate that I am able to tolerate my medications with little or no side effects. Growing up, I did all the same things my friends did, although I was probably the only one having echocardiograms on a regular basis. I played competitive sports through high school, went to college away from home, got married, and moved around the country with my husband who is in the Army, and went to graduate school. I have two beautiful children (one through birth, and one through adoption), I work full-time, I go to the gym, and I’m there for all of my kids’ activities and events. Most people don’t even know I’m different from anyone else, and I don’t really feel that I am. HoFH is just another part of me.
Of course, not everything in my life is totally “normal.” I did have a heart bypass surgery and valve replacement at 28, and I had a heart attack and second bypass and valve replacement at 35. And those times were challenging for sure. Recovery does take some time. But I don’t really dwell on those times, because I came through them well and have been able to return to my normal routine. I know I am very blessed to have had such strong recoveries, as that is certainly not a given for everyone. But compared to earlier generations in my family, I’m doing really well!
And I have to say – I feel incredibly lucky to be living in the time that we are, because there is so much research into FH today! I have seen the treatments available for HoFH and FH in general evolve and improve so much during my lifetime. From the beginning of my treatment that was just diet and bile-acid sequestrants, through generations of statins, to LDL apheresis, specific HoFH medications, PCSK9 inhibitors, more drugs in clinical trials, and (hopefully coming soon) gene therapy, there are so many more, and more effective, treatments available. I am very optimistic about the future for myself and other FH patients.
I am also proud to have taken part in clinical trials to help advance new therapies, so that I can benefit and so can my family and others living with FH. It is very exciting to play even a small role in finding treatments for this disease. I’ve also become involved with the FH Foundation as an FH Advocate, helping to raise awareness among patients, physicians, and the general public about FH, so that together we can help promote more research and more therapies. If you or someone you love is living with HoFH, know that there is a community here for you. Know that a lot of the available literature doesn’t tell you everything there is to know about living with HoFH. There is every reason to be optimistic, and every opportunity to get involved and help to make a difference.