College student poses challenge to life-threatening disease

Twenty-year-old Murphy resident Emily Penn knows firsthand how a disease like Friedreich's ataxia can slow a person down.

At age 15, while taking a track class at Murphy Middle School, Emily began experiencing tendonitis in her knee. During treatment, however, an orthopedic surgeon honed in on Emily's scoliosis, a condition her pediatrician was already monitoring.

The surgeon suggested Emily be taken to Scottish Rite Children's Hospital for a closer look at her spine. Emily underwent a series of tests, including a CT scan, an MRI and a walking analysis that revealed an unusual gait consistent with symptoms of a neurological disorder.

"She walked a little funny, and we didn't think anything of it," said Alexis Penn, Emily's mother. "She was always just a little bit clumsy and a little bit slower."

After blood testing and a genetic screening, doctors came to the diagnosis of FA, a life-shortening disease that affects the nerve tissue of the spinal cord. Symptoms include muscle weakness, loss of coordination, difficulty walking and slowing or slurring of speech. Most patients become wheelchair-bound 15 to 20 years after diagnosis, and heart complications often arise from the disease, causing premature death.

"My next move was to cry for about three days and go on the Internet," Alexis said. "... [The internet] is a great place, but it's all dark and despair and gloomy, and I'm not a dark and despair person. In fact, I'm quite the opposite; I'm a very positive and optimistic individual."

The family set out on finding solutions, eventually discovering the world of clinical trials. Soon after, Emily was undergoing trials in an effort to help develop new treatments for the little-known disease.

"I tell Emily every day, 'You are going to be part of the cure,'" Alexis said.

Five years into her diagnosis, Emily's walking and speech impairments have continued to grow more noticeable. But the Collin College student and Plano East graduate refuses let the disease stop her in her tracks.

Since January, she has been training at the Cycling Center of Dallas for the third-annual Ride ataxia cycling event, which will be held March 23 in Denton. Last year, the event raised $2 million for the Friedreich's Ataxia Research Alliance, a number event planners hope to surpass this year.

Since the balance problems caused by FA preclude Emily from using a traditional bicycle, she will use a recumbent, or reclining, tricycle, a piece of equipment that was donated to her by Richardson Bike Mart and the Texas Irish Foundation in November.

For the past three years, Emily's family has raised money at Ride Ataxia as part of the "Emily's Exercyclists" team. Emily rode six miles in a similar tricycle at last year's event, but this year will be the first in which she completes the 25-mile ride.

"Doctors and the Internet say ... since it's an energy-deficient disease, we're not supposed to do stuff like this," she said. "But we're proving them wrong."

Emily's progress has been swift. When she first started training, she could bike five to six miles. She recently broke 20 miles and should be at 25 by the weekend.

Her progress has been in no small part thanks to Richard Wharton, Emily's trainer and the owner of the Cycling Center of Dallas, who noted North Texas has more bicycle rallies than almost any region in the country.

"It's a growing cause," he said. "It's a rare disease that deserves attention, and we've got local afflicted riders that are living better lives because they are leading active lifestyles with this disease, so it's a win-win-win all the way around."

Emily's goal is to be able to ride 50 miles on her trike by the end of the year, and she also plans to hit the Possum Pedal in Graham in June and the Hotter'N Hell Hundred in Witchita Falls in August. She hopes to complete the Ride Ataxia 50-mile next year.

Her ultimate goal, however, is to raise awareness for the little-known and little-understood disease. She and her family will attend the Lone Star Bash, a golf tournament to raise funds and awareness for the disease, the day before the ride.

"We know that if we can help ourselves, we are certainly helping thousands of others that are afflicted with this disease, and we have a lot of faith and a lot of hope," Alexis said. "If you don't have faith, you don't have hope, and without hope you don't have anything."

Emily said cycling gives her a chance to take back the sense of freedom and independence she has to a large degree lost after five years of battling FA.

"It was a hard journey to get to the point where I am now, and since I've reached it, I don't want to go back," she said.

Friedreich's ataxia affects 15,000 people worldwide. For information and to participate in Ride Ataxia, visit rideataxia.org.

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