Genetic Testing: A Wake Up Call

By Kari Roundy

I first met my FH Specialist, Dr. Seth Baum, in Jan 2016, at the urging of my primary care doctor. I’m so glad I did.

Earlier in my life, I had not taken my cholesterol levels seriously. I believed I could manage my high LDL cholesterol with diet alone and I avoided taking medication. I wish I had invested in my own health by seeking Dr. Baum out earlier – but finding him when I did has make all the difference to my FH management.

Our first meeting was to discuss my lab results and get to know each other. My LDL cholesterol and my Lipoprotein(a), also known as Lp(a), were shockingly high at te time. Dr. Baum suggested I get genetically tested to confirm the diagnosis of familial hypercholesterolemia. I immediately agreed to the genetic testing, had his nurses take my blood, urine, and saliva, and they sent it all off to the lab.

I wanted to know about all my genetic risks for disease. I dove in with faith that it would all work out and that I might contribute to research by having my genetic data collected.*

After about one month, the results came back showing both the FH and the Lp(a) mutations. This was the motivation I needed. Knowing my genetics made me “wake up” to the fact that I had to treat my lipids.

I am so grateful that there are multiple treatments available for FH, and more in clinical trials. I now treat my high LDL cholesterol with a combination of statin and a PCSK9 inhibitor. Because I know I have both high Lp(a) and FH, I have joined a Phase II Clinical Trial to lower Lp(a). I am hopeful for the future, now that I have taken control of my health and I have a great doctor to guide my care.

Genetic testing was a wake up call for me – it helped to motivate me to take my medication and give me confidence in my diagnosis.

If you’re interested in genetic testing, I would seek out a doctor or genetic counselor who knows how to communicate the results to you. It was worth it for me.

*Editors note: not all genetic testing results contribute to medical research. It is important to discuss test and result options with a healthcare provider or genetic counselor.

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