FH = For Her

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This Mother’s Day, I offer a gift to all the moms who want to be there for their children, and want their children to live long, healthy, lives free of heart disease and the heartache and loss it can cause.

This Mother’s Day I am asking everyone I know – Do you have a family history of early cardiovascular disease? I will explain that this could come in the form of early heart attacks, stents and bypass surgeries, or even sudden death. If they do, I will push them to consider getting tested for familial hypercholesterolemia (FH).

FH is a common genetic disorder whereby severely elevated LDL cholesterol from birth leads to premature development of atherosclerosis and, consequently, early cardiovascular disease. It is as common as Type 1 Diabetes, but most have never heard of it. It is diagnosed by a simple blood test and a family history, and when treated early you can prevent heart disease. Most importantly, because FH is passed down from parent to child, if you diagnose a mother (or a father) with FH, you can then screen and diagnose the children who have inherited the FH gene.

My family story began in February 1972, when my maternal grandmother had a massive heart attack at age 48. She was treated at Johns Hopkins Hospital, where the oddity of such a young woman presenting with such advanced heart disease did not go unnoticed. Her three children, all in their 20’s, were tested and found to have markedly elevated cholesterol. Some years later, when I was tested at age seven, my total cholesterol level was 360 mg/dL – twice what it should have been.

We were a family united by a single disorder across generations.

My grandmother’s early heart attack, and premature death from heart failure at 62, was life altering for her husband, her children, and her grandchildren. We learned about eating low cholesterol foods; we learned to take cholesterol-lowering medications; and we learned to lose loved ones too early.

My mother was 28 in 1972. She was active, fit, energetic, and busy raising four children. She was also well on her way to developing the same atherosclerosis which killed her mother. She had her first coronary bypass surgery at 50. She has since had two additional cardiac surgeries but is closely watched and aggressively treated. She is 74 and has spent almost half a century knowing she has FH. She has been the force behind the diagnosis of 15 family members. She raised funds for a young child from Greece with homozygous FH (a rare and aggressive form of FH, when a child has inherited FH from both parents) who needed a new liver and then a new heart. She is currently an FH Foundation Advocate for Awareness and feels it is her duty to educate clinicians and the general public about FH.

Our family knows FH too well. FH affected my mother, her mother, and her children. When my mother’s favorite uncle dropped dead at age 40 from a heart attack, she knew it was FH. When her Achilles tendons thickened she knew it was FH. And when she was told at 50 that many of her coronary vessels were nearly completely blocked, she knew it was FH. But, shockingly, 90% of those who have FH don’t know it. These families are waiting to be found so that they can have the same chance to treat FH and prevent early heart disease, in themselves and their children. You and I can help find them by supporting the work of the FH Foundation, where I am proud to be a Board Member.

I am lucky to have had so many Mother’s Days with my grandmother, my mother, and my four children. Because I was diagnosed early and effective treatments were available for me, I expect to live a long and healthy life free of the heart disease that took my grandmother, and altered my mother’s life. I intend to be there for my own children and grandchildren, and I want the same for other moms.

This Mother’s Day, whether you’re a healthcare professional or just a concerned friend, consider whether you know someone who might have FH. If you do, say something and connect them with the FH Foundation to learn more. You may be saving a life or a family of lives.

5 Responses to “FH = For Her”

  1. Teresa

    Your story is so helpful! My husband just recovered from his second heart attack. He is 43. Neither the first cardiologist from 10 years ago, nor this most recent one, mentioned anything about FH as a possibility. We were given diet pointers and told good luck. We lucked into a specialist who diagnosed my husband with FH and is helping us plan long healthy lives and help us test our children. I’m so grateful for the FH community. Your mother’s work in advocacy is absolutely necessary! I will start my part by educating a couple of cardiologists. Next on my list, insurance companies! Happy Mother’s Day!

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  2. ALBERTO SANDOVAL

    I am a citizen from Ecuador, South America. I am very well aware of FH since my family has suffered it for years without a diagnosis. I have had 2 stents at age 40 and 50 and open hearth surgery at 53. My mother had open hearth surgery at 65 and two siblings and 4 nephews suffer from high cholesterol levels. The worst thing that can happen to a human being, unfortunately happened to us. My oldest son, Alberto, died 5 years ago at age 30 from a sudden hearth attack having been always a fit, healthy oriented young and successful person who we loved dearly. This terrible tragedy changed our life forever. I knew about FH around 2 years ago when my grandson (Alberto´s son) was diagnosed high LDL cholesterol level at age 2. Since then, I follow very closely the development of this terrible disease and thanks to what I have read at the FH Foundation news, today I am being treated with Repatha with very good results. I urge everybody to look for proper diagnosis and treatment as soon as possible.

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  3. mom

    Good job… we all need to spread the word.

    Reply

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