Donna wasn’t into sports much through high school, but her younger sister Aviva was. Growing up, Donna remembers meeting Aviva at the bus after athletic events. “Many times I’d pick her up off the street and carry her home,” says Donna with a wry smile.

Eventually, Aviva’s frequent bouts of muscle symptoms led to a diagnosis of CPT deficiency. Meanwhile Donna began running on her own while at university. “After I accomplished my first 10K, I upped the ante and aimed for a half marathon. When I’d done two of those, I thought, well, I might as well try a marathon.”

Donna began training with a running group four to five times a week, sometimes running for as long as three hours. But she was always lagging behind, even though the other runners were older and heavier. “There were times when I’d be really sick and have black urine,” says Donna. “But I just thought I had to train harder.”

Come marathon day in October, Donna rode the four hours from Ottawa to Toronto with her family and joined the other runners at the starting line. Half way through the race she still felt pretty good. But somewhere around 30 kilometers, her legs began seizing up. Soon wrenching cramps spread like a plague through her body.

Donna geared down to a walk, then a near crawl: Two steps, stop, stretch, two steps, stop, stretch. “I was crying at that point,” recalls Donna. “I was going so slow.”

When she still had 2 kilometers left, Aviva came looking for her. “My sister understands what it’s like to want to do something and not be able to,” says Donna. “So she didn’t tell me to quit.” Instead Aviva held Donna’s arm and walked beside her: two steps, stop, stretch, two more, stop, stretch….

One kilometer from the finish line, Donna could see her family and friends waving and cheering, even though the officials had already picked up the pylons. “The race was over,” says Donna, “but I still had my arms out, reaching for trees or whatever would hold me up. Everyone was crying when I crossed the finish line—they could see how much agony I was in. I remember someone saying, ‘Well, you still ran a marathon.’ Then they put a medal over my head.”

Immediately, paramedics whisked her off to the first aid tent where she joined a few other exhausted runners who were getting intravenous glucose. But while the other athletes soon hopped up, rejuvenated, Donna began shaking all over. What followed over the next 24 hours was a series of downgrades: first aid tent to ambulance to emergency room to hospital room to intensive care unit.

With each move, Donna’s doctors made reassuring noises, while privately sorting though alarming lab reports—like CK (creatine kinase) values that climbed from 9,000 to 123,000. Fortunately, massive doses of intravenous fluid prevented renal failure, though fluid collected in Donna’s lungs and around her heart, and one lobe in her lungs collapsed. Finally, the turn around came with a cut back on fluid. Donna began recovering.

Six weeks after the marathon, she was running again, but this time with a definite diagnosis. “My sister told them all about CPT deficiency. The doctors had never heard of it, but Aviva educated them a lot and they said yes, that sounds right. Then they got on the internet and looked for more information.”

In retrospect, Donna remembers episodes of muscle pain as early as age 16. She also believes the 1998 marathon left a permanent imprint. “If I skip breakfast and take the stairs, I can feel it in my legs more than I would have before. And I can’t run the way I used to. At most, now I go for an hour.”

But Donna still feels fortunate. “I see my sister who is affected on a weekly or monthly basis, while for me it takes something extreme.” As for marathons, Donna is philosophical. “It’s a mind change you have to go through,” she acknowledges. “You can still be in shape without running marathons. I know that now.”

IV or not IV? Only for grueling multi-day sports
Interesting article about the controversial practice of giving healthy but exhausted athletes IV treatments to aid recovery. 

Creatine kinase in energy metabolic signaling in muscle  10-page scientific paper from the Netherlands.


To read about more athletes with CPT deficiency, visit Same difference and Significant others.

To read about carbohydrate replacement after exercise, visit Damage control.