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SALT LAKE CITY – You can usually tell a big race is coming just by seeing how busy running shops are the day before.
Lots of runners were buying last-minute gear at the Salt Lake Running Company in downtown Salt Lake City. Shirts, water bottles and gels seemed to be a must-have for runners Friday afternoon.
But of all the runners getting ready the Salt Lake City Marathon Saturday morning, it might be tough to find one as nervous as Lorenzo Botto.
“I’ve never run over a 5K since high school,” said Botto with a laugh. “My crazy program was to go from couch to half marathon in five weeks.”
It takes a lot of inspiration to run a half marathon. However, Botto has plenty.
“It’s a tiny challenge compared to the challenges these families face day in and day out,” Botto said.
You see, Botto is a doctor specializing in medical genetics as director of the 2-year-old Penelope Program. It’s a program with the University of Utah and Primary Children’s Hospital to help kids with rare and undiagnosed diseases.
“These are conditions that tend to evolve over time, and if you don’t have a solid understanding of what’s going on, then that is a question that really troubles families,” said Botto. “The first question many families have is, ‘What does my child have?’ The second is usually, ‘What does this mean for my child?’ These are families that have been going through the health care system and trying to find answers for their kids."
One of his patients is 9-year-old Marley Eliason. She is the daughter of Utah State Rep. Steve Eliason, who knows what it was like to go from doctor to doctor, and hospital to hospital, trying to find an answer as to what was going on with Marley.
“You know there’s something wrong with your child, but you don’t know what it is,” Eliason said.
After several years of calling Marley their “beautiful mystery,” Eliason got a tip from a co-worker to take a look at the Penelope Program.
It finally gave them an answer.
She has a rare syndrome, affecting her physically and mentally, that less than 200 people in the world have.
“New testing the Penelope Program utilizes, called exome sequencing, that is kind of like the Rosetta Stone. It unlocked the mystery that we didn’t think we would ever unravel,” Eliason said. “Children that have been diagnosed and received the special therapies have exponentially !!!!! have had leaps and bounds in their advancement.”
It’s why Eliason is running with Dr. Botto in the half marathon.
They want to raise awareness of the Penelope Program to give families hope in dealing with something scarier than running a half marathon.
“If I have to get there on my hands and knees, I will do that. So long as it helps the cause,” Dr. Botto said. “We may not be able to cure their conditions, but we can start putting down the basis for doing that in the future. This is a program for Utah, for the Intermountain West; but in a way, it’s a program for humankind.”
