Living with Familial Hypercholesterolemia

What’s Your Normal?
I have Familial Hypercholesterolemia. I inherited the gene from my father, who inherited it from his mother, who carried our French Canadian FH gene. FH is a genetic disorder that causes very high LDL cholesterol from birth, unrelated to diet and exercise. For me, knowing I have ridiculously high cholesterol is normal. I found out when I was in High School and my cholesterol numbers, without treatment, have always been in the mid-300s.

Worrying about my father and his three brothers, who also inherited the FH gene, is also normal for me. They learned they had FH when my youngest uncle went in for bypass surgery in his 20s. For them, going in for a bypass or a stent was normal. Having a heart attack was expected – not if, but when. They were always on the lookout, paying attention to each twinge in the left elbow, or feeling short of breath. Heart disease struck in the prime of life, but they have survived and thrived. They are grateful to be here – and I’m grateful too.

But, I was struck recently by the fact that I consider my family lucky. Not that we aren’t. I have not had a heart attack (knock wood), and neither have my two sisters who also inherited FH. We have statins and ezetimibe treatment that works well for our family, hopefully in time to prevent my generation from going through what my father’s generation has gone through. But by what warped standard is that lucky? How is that our normal?

My father and his siblings have 6 bypass surgeries, several heart attacks, and many stents among them over the past 40 years. When my father learned he had FH, my mother went back to school expecting she would be a widow who had to raise small children on her own. My father took every drug as it came to market – niacin, bile acid sequestrants, and at last statins and then ezetimibe. He ran for miles and starved himself. He made it to 57 before he had a heart attack. I was in my 20s when my father had sudden death in the middle of a tennis tournament and was revived by CPR. My sister Diane sat by his bedside while my sister Laura and I flew home to be there for my father and for my mother as he underwent a bypass. We expected that day to come – that was our normal.

This is a hopeful time for families with FH, but let’s not forget how FH has changed our families and taken so many in the prime of life. For 30 years there has been effective statin treatment for FH, but 90% of the 1 in 250 people with FH remained undiagnosed and under treated, knowing that early heart disease runs in the family, but not understanding why or what they could do about it. Thinking that was just their family’s “normal.” For many, statins did not come in time, or just were not enough against their high LDL cholesterol levels, especially those with the rare form of FH – Homozygous FH – whose cholesterol can be as high as 800 or 1,000. Today there are more options for those patients – ezetimibe, new PCSK9 inhibitors, drugs specifically to treat HoFH, and more potential treatments in clinical trials. But those treatments are no good unless a person with FH is diagnosed, prescribed treatment, the treatment is covered by their insurance and is affordable, and the person actually takes it. That’s why I am excited to see more awareness and understanding among healthcare providers, policy makers, and patients – but we still have a long way to go.

Today I am the Director of Outreach for the Family Heart Foundation. We are trying to establish a new normal for families like my own, affected by FH. Early diagnosis, family screening, and early and aggressive treatment to lower LDL cholesterol over the course of a lifetime is what we are working for to prevent heart disease before it takes hold. Our new normal should be the expectation we can live our lives free of heart attacks, bypass surgeries, stents, and the additional medication and health risks that come with all of that. We want our new normal to be that we won’t lie in bed at night and worry that we won’t wake up, that we will leave our children motherless or fatherless. We want our husbands and wives not to worry that they will be left without us to raise our children. We want to watch our parents grow old, grow old with our sisters and brothers, watch our children graduate from college, get married, and have our grandchildren – to live a long and healthy life with the people we love. That is my family’s new normal. I hope it will be yours too.

cat_1Cat Davis Ahmed
Director of Outreach, Family Heart Foundation

6 Responses to “Living with Familial Hypercholesterolemia”

  1. John

    Cat thank you for sharing! I can’t thank you and the foundation enough for the resources and support.

  2. Marge

    I was diagnosed with HeFH by a Xanthoma at age 60 which was 3 yrs ago since then both my sisters and my two daughters were checked and they have normal cholestrol levels with normal ldl ranges. My question is should my grandchildren be checked since my daughters have normal levels or could this disorder skip a generation
    Thank you

  3. Sansar

    My daughter is with FeFH aged 20

  4. Sansar

    My daughter is suffering with hypercholesterolemia what is the remady

  5. Kathy Thompson

    Thank you for sharing your personal story. I am glad your family has been a success story in terms of surviving their heart disease. It gives us hope. Your work is making such a difference for so many and we thank you!

  6. Cassie

    I am going through a difficult time. I have had normal cholesterol levels all my life. My parents had normal cholesterols until their 50s and they went on statins to optimize their cholesterol levels, currently with LDL <100. I recently underwent a health initiative to have my genes sequenced. It came back with I was heterozygous for a LDLR point mutation that could cause FH. I don't believe it. Worse of all, I just became pregnant and if I had known would have definitely sought genetic counseling. I'm not sure who to turn to at this point. The genetics department closest to me is booked out for the rest of this year.


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