I sometimes tell my two daughters that life is unfair. We all have burdens to bear and blessings that come to us whether we deserve them or not. I tell them that life does not provide a level playing field for all of us, but that as we have opportunities to improve our own lives, we also have opportunities to help improve the lives of others.
I found such an opportunity when I survived a heart attack at the age of 38. As an adolescent and then a young woman, my sky-high cholesterol levels had been dismissed as “probably inherited.” When I started to experience shortness of breath and tightness in my chest while hiking, my doctor seemed more concerned with my anxiety than with my physical symptoms. Somehow the idea of a young woman having heart disease just did not register as a possibility to the medical establishment. Yet, had I been diagnosed with familial hypercholesterolemia (FH), a heart attack would have been an early prognosis.
Life is not necessarily fair, but in the case of FH, we are failing to do our part. If I had been adequately treated from childhood, my story might have been entirely different. Early diagnosis and early treatment can give someone the chance to live a full life. Without it, individuals with FH have a 50% chance of having a heart attack by the time they are 50 years old. Depending upon the mutation they inherit and other risk factors, people with FH often suffer a heart attack in their 20’s, 30’s or 40’s.
Heart disease still kills more people than any other condition. FH is the most common genetic cause of heart disease and it runs in families. It is a family condition that affects families of every race and ethnicity around the world. Each parent, sibling, and child of an FH family has a 50% chance of also having FH. Altogether, we are an FH family of over 30 million people.
Yet 90% of people with FH never get an accurate diagnosis, thereby losing their opportunity for prevention. Despite advances in scientific understanding of FH and despite the growing availability of clinical tools to successfully manage FH, we are failing to help people because proper diagnoses are not being made.
This is why I started the FH Foundation - to address these gaps in care.
50,000 people every month from around the world now come to our website for help. Our materials are translated into 11 languages. We have innovative programs to increase physician understanding of FH and contribute to science through our National FH Registry.
I do not know if I will see my daughters become adults or ever meet my grandchildren. I do know I am making a difference for families, many of whom have become my friends and many more whom I will never meet.
Please help support the work of the FH Foundation. Learn more at www.thefhfoundation.org.