Homozygous Familial Hypercholesterolemia then…
When I was diagnosed with homozygous form of familial hypercholesterolemia 10 years ago, after multiple bypass surgeries, the only up-to-date and optimistic information I could find on the internet was the FH Foundation website. The rest was at least 30 years old and did not provide much hope.
“Prognosis in homozygous patients with familial hypercholesterolemia is presently very poor; patients rarely live up to the age of 30.” (1982)
“Such FH homozygotes (about one in a million people) have a circulating LDL level more than six times higher than normal; heart attacks can occur at the age of two and are almost inevitable by the age of 20.” (1982)
“The uniqueness of young children incurring [heart attacks] may have skewed the autopsy data to suggest that all FH homozygotes die before age 20 years. This study reports on a significant number who lived asymptomatically into their third decade, and a number of others who lived only to adolescence.” (1984)
Terrifying. Sadly, that may be what some patients hear today, if their doctor isn’t informed about the disease (many still are not), and if they don’t find the FH Foundation and all it has to offer in the way of education and support.
Today, my story is very different. I recently received my latest lab results and my LDL (the “bad” cholesterol) is 57 mg/dL. 57! Total cholesterol is 106. For someone like me with HoFH, this is miraculous. It was simply unimaginable even 5 years ago. Ten years ago, two of the drugs I now take didn’t even exist. I am proud to say I participated in two clinical trials that helped bring these two new drugs to market – one for Evolocumab and one for Evinacumab.
When I was 5 years old, my cholesterol was over 800 mg/dL. I was not accurately diagnosed with HoFH until I was 36, but I was treated with what was available. I did 11 years of a process called Lipoprotein Apheresis that filtered the LDL cholesterol from my blood every two weeks, took generations of statins, vitamins, supplements, and other drugs. I had two surgeries for coronary artery bypass and a heart attack before age 35. I watched my dad struggle and ultimately succumb to the disease after years of heroically, and gracefully, fighting it.
Ultimately, that search I went on when I was diagnosed with HoFH also led me to find the FH Foundation and my B. The FH Foundation is helping change the outlook for people living with HoFH! I’m 46 years old, and my lipid specialist says if we can keep these amazing levels, I should expect to live a full life, hopefully free of future cardiac events. It’s amazing. And THIS is why I support the FH Foundation, why I serve on the Board of Directors, and why I fundraise. It’s for miracles.
Please join me this FH Awareness Day and make a donation to the FH Foundation – you can help make miracles happen.
Today is FH Awareness Day!
FH Awareness Day was established in 2012 by the FH Foundation to raise awareness of familial hypercholesterolemia worldwide. Together, we raise our voices in our local communities, clinics and social media, and help people #KnowFH.