Living Fully With a Rare Condition: A Story of CPT2 Deficiency

Living Fully With a Rare Condition: A Story of CPT2 Deficiency

Some stories quietly change the way you think about pain, resilience, and what it means to live well.

This is one of those stories.

In a recent episode of The Chronic Pain Experience Podcast, I sat down with my husband, Milt, to share his journey living with CPT2 deficiency—a rare genetic condition that can trigger sudden, severe muscle pain and breakdown if not carefully managed.

Despite this condition, Milt has built a full life. He’s a father of three, a lifelong athlete, and a successful entrepreneur. His story isn’t about “beating” a diagnosis—it’s about learning to live in partnership with his body.

What Is CPT2 Deficiency?

CPT2 (Carnitine Palmitoyltransferase II) deficiency affects how the body uses fat for fuel.

When quick energy sources like carbohydrates are depleted, the muscles struggle to access stored fat. The result can be muscle cramping, weakness, severe pain, and the release of myoglobin—a toxin that places strain on the kidneys.

Milt describes it simply: when his muscles run out of fuel, they begin to shut down.

Episodes can be triggered by intense exercise, illness, cold exposure, lack of food, or stress—especially when several of these factors overlap.

Growing Up Without Answers

Milt first noticed something was wrong as a child.

Walking home from school, his legs would feel unbearably heavy. Sharp cramps would build, his body would lock up, and he wouldn’t understand why. Like many kids, he pushed through—because that’s what you do when you don’t have answers.

As a teenager, sports made the pattern clearer. He could compete one day, but his body often couldn’t recover for the next. Weekend tournaments became impossible. Still, without a diagnosis, he adapted instinctively—reaching for sugar, rest, and pacing long before he knew the science behind it.

Finally Getting a Name

The turning point came during university, after a severe episode left him immobilized. Dark-colored urine and prolonged recovery led him to seek medical help.

When he finally received a diagnosis, there was relief—but also uncertainty. CPT2 is rare, and there was no simple roadmap. What followed was a lifelong process of observation, learning, and self-trust.

Living With Episodes and Uncertainty

Milt doesn’t live with daily pain, but he lives with the possibility of episodes, which he rates on a scale from one to ten.

Milder episodes resolve with rest and fuel. More severe ones—especially those triggered by illness—can escalate quickly and feel frightening. Fever and chills, in particular, have pushed him into severe episodes in recent years, adding a layer of fear and anticipation.

Learning to manage not just the physical symptoms, but the emotional response, has been essential.

A Biopsychosocial Approach in Real Life

Over decades, Milt developed his own toolkit.

Physically:

• Rest

• Rapid refueling (cornstarch, electrolytes, chocolate)

• Heat

• Careful pacing

Psychologically:

• Regulating his breath

• Reminding himself he has recovered before

• Staying calm when symptoms rise

Socially:

• Communicating honestly

• Setting boundaries

• Letting trusted people support him

This balance—body, mind, and environment—is something we talk about often in chronic pain recovery. Milt lives it every day.

Letting Go of “Pushing Through”

One of the hardest lessons has been learning when not to push.

If Milt wants to hike with his kids, he plans for it. He fuels ahead of time. He rests. He brings the snack—even if he doesn’t think he needs it yet.

This isn’t limitation.
It’s intention.

What CPT2 Has Taught Him

Living with CPT2 taught Milt to listen—to his body, his limits, and his intuition.

A specialist once told him he had “naturally found his way.” After years of not being fully understood, that validation mattered deeply.

His Message to You

If Milt could speak to his younger self, he’d say:

You’ve got this. You’re going to have a good life.

And that’s what he hopes others take from his story.

Believe in yourself.
Listen to your body.
Trust that adaptation is strength—not weakness.

You don’t need a perfect body to live a meaningful life.
You need curiosity, compassion, and the courage to listen.