I Never Had a Clue

I had no idea I carried a potentially fatal genetic mutation, because we never talked about our family history.

My mother was a foster child from a young age. She never spoke about her parents, probably because she didn’t know much about them. My mother was married young. My older half brother and sister were much older and I had little contact with them. It was a surprise to me to learn that my half brother had had 7 heart attacks, 2 stents, and a double bypass surgery. I found out when I was 34 that I had extremely high cholesterol. I was looking for answers after I was diagnosed. I knew at 14 that I had high cholesterol but I had no idea where it came from or what it meant for me. I had no idea it was genetic. After a few years had passed, trying different treatments, I still had no control over my very high cholesterol. I started to want answers to my questions – Where did this come from? What exactly is this? Why aren’t the statin, the ezetimibe, and the bile acid sequestrant working on my numbers? I felt more urgency when, at age 37, I was diagnosed with Homozygous FH, the rare form of genetic high cholesterol. I was losing hope.

When the opportunity to participate in research studies came along I was ready. One study offered genetic testing. I signed up right away. I needed answers. When I got my genetic test results, it started to make sense! It turns out that my FH is caused by a mutation that is known as “LDL receptor null” – a particularly severe mutation. So now it made sense why my numbers were treatment-resistant. With further testing I found that I have a genetic mutation that makes me statin-resistant. Knowing my genetic mutation helps me understand how serious my disease is and that I really must pursue ALL treatment options. I will keep searching for something that will work for me.

Colleen McCready

3 Responses to “I Never Had a Clue”

  1. Kathy Thompson

    Thank you for sharing your story. While we each have unique FH challenges it means so much to me every time someone like you shares your journey. My very best to you.

  2. Colleen Sweeney

    Thank you for sharing your powerful story Colleen!

  3. Casey Walsh

    Colleen, so nice to find you here after getting to know you in the Facebook group. You have a compelling story and do your best within that group to get out accurate information to others who so desperately need it. I’m pulling for an effective treatment for you and am hopeful, given the advances that continue to occur. Thank you for all you do!


Leave a Reply