Living Rare – An Adult’s Perspective

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ENERGY IN ACTION – EPISODE 049
Living Rare – An Adult’s Perspective

Fred Jacobowitz has been diagnosed with Carnitine Palmitoyltransferase Type II (CPT-II/CPT2) Deficiency, a type of fatty acid oxidation disorder. He shares his diagnosis experience, lessons learned and what his rare disorder journey has been like.

EPISODE HIGHLIGHTS

When did your CPT2 symptoms begin?

I had difficulty keeping up with other kids when I was young. In high school, I excelled in the sport of swimming, but after workouts I had difficulty climbing out of the pool. In college, I kept getting rhabdomyolysisBreakdown of muscle tissue, releasing muscle fiber contents into the blood, with complex and potentially fatal consequences. Muscle contents are harmful to the kidney; rarely, permanent muscle damage, the breakdown of damaged muscle which results in the release of muscle cell contents into the blood, which can further lead to kidney failure. It wasn’t until I was an adult that I was diagnosed with adult onset myopathic CPT2.

At what point did you realize your symptoms were serious and you needed to seek answers?

Years later after I was married and had kids, I started experiencing chest pain and was told I was having a heart attack after undergoing a stress test. My wife introduced me to a cardiologist who just started his own practice. He looked over my medical history and determined I didn’t have a heart attack at all. I told him about my symptoms and he recalled a speaker he heard at a conference and said I had some sort of metabolic muscle disorder. He referred me to an endocrinologist, who was confident that I had CPT2 and could prove it through a series of tests. Not the symptoms I experienced from childhood, but the heart attack is what brought me to a diagnosis.

What primary symptoms do you experience with CP2?

People express symptoms differently at different times. For me, if I overdo it I get tired, I get muscle fatigueThe overall feeling of tiredness or lack of energy. It is not the same as simply feeling drowsy or sleepy. Being fatigued means having no motivation or energy. and lightheaded. I started taking Triheptanoin (C7), which helps to manage my symptoms in addition to diet and exercise. Before I started taking C7 I would get very sick and now I get sick and recover like a normal person would.

How did receiving a diagnosis impact your life?

I learned about what my diet should be like, what exercise should include and how to walk the tightrope between building and breaking muscle. My physician suggested I participate in a clinical trial, which was a turning point in my journey.