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I Am So Very, Very Lucky!

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written by: Stacey, FH Foundation board member and living with FH
I am so very, very lucky!

Imagine 49 years ago being 6 years old and learning that your father has died.

Imagine finding out that you and your only sibling have the same disease that killed him and that there is no treatment.

And imagine living with the knowledge that, without medical intervention, someday the same fate will befall you and most likely your children.

That was precisely my situation when I was diagnosed as having “family high cholesterol” in the mid 1960’s. You see, my FH story is far from the typical one. Unlike the over 600,000 Americans who remain undiagnosed, I have been aware that I have a cholesterol disorder for just about half a century. But at the time, the condition had no name and definitely no treatment.

That is why this week has been such an exciting one for me and my family. Despite having the same genetic mutation that lead to my father’s death, I can say for the first time in my life that my two affected children and I are going to be OK – and that makes me extraordinarily lucky!

Over the last 49 years I have had the privilege of having a front row seat to what I like to call “the cholesterol show”. I’ve been able to watch as familial hypercholesterolemia was first identified and then have had the honor of observing the profound advancement of scientific knowledge in the understanding of cholesterol metabolism. I have been able to watch as treatments to lower my dangerously elevated LDL levels slowly have been made available and have gradually become more effective – starting with bile acid sequestrants, followed by statins, and ezetimide, culminating with the approval this week of the first PCSK9 inhibitor drug. I have been able to watch as the odds of me living into old age have gone from slim to being about equal to that of the general population. – and this was something that I never thought was possible.

For the first time in my life I can say that the overwhelming guilt and the overwhelming fear that results from having FH is finally in my past. The future for those afflicted in my family and for generations going forward looks extremely bright despite this life threatening genetic disorder. And for that I am extremely grateful for the scientific progress that has been made in my lifetime – I am so very very lucky!

5 Responses to “I Am So Very, Very Lucky!”

  1. Joyce Ross

    So thrilled to see all these healthy beautiful faces. Yes indeed it has been an adventure for you all, but the ride is worth it all. Thanks be to God for your willingness to push through and find the best for your family. Also so pleased to see your involvement with the FH Foundation, your efforts are so appreciated and needed.

    Reply
  2. Ellen Wolfson

    love this comment! I was diagnosed 45 years ago, and I am now awaiting the first shipment of PCSK9 inhibitor drug. This is so amazing, and I am excited to get started.

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  3. Deborah Tillman

    Stacey, thank you for your story and involvement in spreading awareness . I share in the excitement with you and Ellen for the PSCK9 inhibitor and fortunately had my second dose today. I was diagnosed with “high cholesterol” over 20 years ago. However it was 6 years ago that my two sons and I were diagnosed with FH after my then 11 year old son developed xanthomas. We are on statin and ezetimibe therapy (along with diet and exercise) – I feel more encouraged about minimizing our risks with the PSCK9 inhibitor. Wishing all the FHer’s success at lowering LDL and hoping to hear many good reports!! Deborah from Louisiana.

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  4. Sarah Nill

    I would like to know more about PCSK9 inhibitor. I am 41, was diagnosed at 11 and have my lipids down to 142 with diet and simvistatin 40 mg. What else do I need to know?

    My father had a heart attack within hours of my birth. He was just 29 years old. His father and brother both passed away at age 50. When I was eleven, my cholesterol was close to 400. My mother researched tirelessly to find out how to save my life. There were no food labels at the time, and statins were not available. Doctors weren’t even convinced that diet had anything to do with heart disease, and she pushed through by creating a diet that saved my life. Once statins became available, I added them to my toolbox to fight against FH. I am 41 years old, my cholesterol is 142, and I have zero plaque build up on my most recent calcification scan. I don’t want to lose one more generation in my family to FH. I have already had my three sons, aged 4, 8, and 11 screened with a simple lipid profile so that I know what their needs are. Early detection is critical to survival.

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    • Laura M

      What are you doing/have you done to fight FH in addition to the statin? Amazing that you have no plaque.

      Reply

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