Early diagnosis and naming my condition prevented an untimely death

Some of the best advice I’ve ever heard comes down to this simple idea: naming something doesn’t work. this power gives we Powerful.

When a small town family doctor told me at the age of 20 that I had high cholesterol which was clearly hereditary – based on the premature deaths of my father and my brother after a heart attack – at first I was shocked. I had no symptoms and therefore no reason to suspect that my LDL, or bad cholesterol, was as alarming as it turned out to be.

But learning the name of what I had – familial hyperlipidemia type 2a, as it was commonly called at the time, although it is now more commonly known as familial hypercholesterolemia (FH) – has so much to do with it. Explain.

In the early 1970s, barely out of college and newly married, scheduling a medical exam and getting a blood test was not on my priority list. I had always eaten the low fat version of anything I could find and had never smoked, determined to learn from what had happened to my dad and my brother.

But I had never had my cholesterol tested. The recent death of my brother at the age of 27 convinced me that it was time to take care of myself.

Sitting in the doctor’s office, allowing the diagnosis to settle in, I was surprised, but somehow not. It had seemed likely that there was something going on in our family – given the early deaths – and probably I could have it too.

Having a name for this disorder provided the first glimmer of understanding of what had happened to my father and brother and made their untimely deaths a little less random. It occurred to me then that knowledge is power; that armed with information, I could take steps to avoid a similar outcome for myself.

Early on, knowing that I had FH (as opposed to high cholesterol in the ‘garden strain’) helped me when even the most restrictive diet, combined with sporadic attempts to incorporate it. exercise in my already busy schedule has produced less than desirable results. Rather than feeling like a failure when others with high cholesterol have managed to reduce their numbers with lifestyle changes alone, having a name for this genetic condition has helped me to understand that there were only a few things under my control.

Having a name for this disorder has also allowed me to be proactive when my own children are born.

When our oldest child was diagnosed at the age of 2, his pediatrician sent us to a doctor specializing in lipid disorders, and we followed his instructions to a T. Although we are grateful, our second child did. did not inherit the FH gene, our youngest did, and she joined us during our regular visits to the specialist.

My daughter is an adult now; her own daughter was also diagnosed with HF and started appropriate treatment early on. In each subsequent generation, a diagnosis and

treatment will likely result in a normalized life trajectory for those who would otherwise have suffered blockages or heart attacks at a young age.

It has been 45 years since my diagnosis; 45 years old taking the latest medications, monitoring my LDL levels, seeing my cardiologist regularly, and having occasional diagnostic tests. Forty-five years without a cardiac event. Forty-five years that I probably wouldn’t have had without this early diagnosis.

While it was clear to me that early diagnosis saved my life, it did so much more. It helped me understand what happened to those who came before me. It helped me ensure that those who came after – my children and grandchildren – will have a different outcome. It has helped me understand why our livers work differently and develop the ability to explain it to those who have never heard of hereditary high cholesterol.

All because my doctor gave me a name for what I had in 1976.

If your untreated LDL cholesterol is over 190, you have a family history of early heart events, and lifestyle changes have had little impact on your levels, you may want to talk to your doctor. doctor of the HF.

Photo credit: okskukuruza / iStock via Getty Images Plus


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