Living Rare – An Adult’s Perspective

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 rhabdomyolysis, 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 fatigue 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.

RESOURCES & LINKS MENTIONED

What can you do despite CPT Type II (CPT2) Facebook Group

https://www.facebook.com/groups/CptType2/about/

Ultragenyx

https://www.ultragenyx.com/

2022 International Metabolic Conference

https://www.mitoaction.org/internationalmetabolicconference/

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