Scripps researcher treks across The Sahara to raise awareness for PKU disease

Professor Raymond Stevens, who directs the structural neurobiology program at Scripps Research Institute, completed a six-day, 156-mile ultra-marathon across the African Sahara Desert in April to raise awareness of a disease called phenylketonuria (PKU). A rare, inherited metabolic disorder, PKU patients are unable to metabolize an essential amino acid called phenylalanine, which puts them at risk for severe neurological complications, including IQ loss, memory loss, concentration problems, mood disorders, and in some cases, severe mental retardation.

Stevens obtained his spot in last fall’s lottery among ultra-marathon running enthusiasts for the opportunity to compete in the 900-person race, which got underway April 3. Called “Marathon des Sables,” it has been described as “the toughest footrace in the world.” The course is not revealed until the day before the race begins, but it weaves over uneven, rocky ground and massive sand dunes in southern Morocco, where daytime temperatures exceed 130°F.

Competitors are required to carry all belongings, including food. The only exceptions are group tents and water. Water is handed out in rationed portions at checkpoints.

“This event for me in part symbolizes PKU drug discovery and all of the researchers, families, foundations in the PKU community that have come together with the common goal of finishing a long drug discovery race,” said Stevens, who wrote about his adventures on the website of the National PKU Alliance, where Stevens serves on the scientific advisory board.

“Running this race is like developing treatments for PKU — three steps forward, one step back, but one just has to keep moving forward and eventually one WILL cross the finish line.” In breakthrough findings, Stevens’ group solved the structure of the liver-produced enzyme phenylalanine hydroxylase (PAH), deficient in people with PKU.

On the first day of the Marathon des Sables, Stevens said he felt as ready as he was going to be. He trained in a 160° sauna. He ran “a lot.” And, with his doctor, he tried to manage the tendinitis that sprung up from overtraining in his left ankle and the shin of his left leg, although neither had fully healed.

In the preceding days, he also packed and repacked his supplies, trying to minimize their weight. On the day of the race, he was carrying 2,000 calories of food per day for seven days (including oatmeal, freeze dried packages, almond peanut butter, and pop-tarts), electrolyte powders, a sleeping bag, headlamp and batteries (for running at night), an emergency space blanket, a whistle, a signal mirror, a compass, a knife, a first aid kit, a lighter, and a scorpion venom pump.

The first day’s course, about 21 miles, included crossing the largest sand dunes in the Sahara, where many of the runners (including Stevens, whose left leg also began to swell) picked up severe blisters. The physicians in the medical tent were busy “fixing a lot of feet.”

The second day’s course consisted of about 24 miles, followed by a third day of another 24 miles. Stevens said he struggled with increasing nausea from dehydration and vomited twice near the third day’s final checkpoint.

The next day presented the longest stretch — 51 miles — and one of the hottest days of the race. After the first 18 miles, Stevens was so dehydrated he was put on an IV (one IV is allowed per participant; require a second and you are forced to withdraw from the race).

“I had to lay in the sand with a needle in my arm that cost me time,” Stevens wrote, “but after 1 liter of saline solution and 1.5 liters of glucose solution, I felt great being fully hydrated and managed to run 32 miles straight to the long stage finish line, crossing at 3:58 a.m.” He noted he was especially motivated to complete the stage before the sun came up on the fifth day; rumors had been circulating around camp that temperatures were reaching 131°F.

By the sixth day, the 26-mile marathon stage, Stevens “had his head down, just putting one foot in front of another.” Finally, came day seven, 11 miles … and then the finish line!

Was the race was worth it?

“Absolutely,” he said. “I enjoyed it fully, which is easier to say now the pain has gone away.” He added that his favorite part was “turning off my headlamp in the middle of the night on the 51-mile-long stage and running up the cold dunes in the dark looking at the stars.”

Would he run the race again?

“No way,” he laughed. “It was a once-in-a-lifetime dream.”

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