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Donna didn’t think about heart disease and its potential impact on her young family until 1992 when she was rushed to the hospital at the age of 45 with 4 heart blockages. Even though her father had died of a heart attack at that same age, there just wasn’t information available at the time that would have enabled her to prevent the devastation that having genetic heart disease can bring.

Familial hypercholesterolemia is the name of an inherited condition that affects Donna and many of her family members. It causes high levels of LDL (low density lipoprotein) cholesterol levels beginning at birth, and heart attacks at an early age. A parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children.

Having lost her eldest son to a massive heart attack at the age of 42 and knowing that this same genetic disease affects one of her surviving two children is a source of “hurt and worry that never goes away”.

So today, Donna is thanking God that her son who carries this gene is eligible to participate in a clinical research program with a drug that has already proven to remarkably reduce LDL cholesterol. This new class of medication, called PCSK-9 inhibitors, has recently been favorably evaluated by the FDA and one of these new drugs, alirocumab, is on schedule for full FDA approval within the month.

Speaking of her son, Donna states, “I have such peace of mind knowing that he can be helped in controlling his heart disease and learn more about his condition with hands-on help.” She knows how important research participation is; she has been involved in clinical trials personally for over twenty years thanks to the dedicated efforts of her cardiologist, Michael Koren, MD. “Research programs promote awareness of disease, enable you to be watched and monitored and allow access to new therapies all while being cared for by highly skilled staff and physicians.” 

“My son and I are both relieved that he is in this program knowing that now he will receive the care and attention that is necessary to battle this genetic disease.”

Posted by Amy Autry Bush Thursday, July 16, 2015 3:10:00 PM Categories: Musings