UF shines a light on rare diseases


Sarah Pettit, left, shares a moment with her son, Creed Pettit, 4, who suffers from Leber's Congenital Amaurosis (LCA), a retinal dysfunction that leads to blindness, as his doctor, retina specialist Christine Kay, right, and assistant professor Shannon Boye, center, watch, during Rare Disease Day at Shands at UF in the Founders Gallery in Gainesville on Thursday.

Erica Brough/The Gainesville Sun
Published: Friday, March 1, 2013 at 6:28 p.m.
Last Modified: Friday, March 1, 2013 at 6:28 p.m.

Creed Pettit squirms and giggles like most 4-year-old boys. But shortly after he was born, he displayed worrisome behavior.

“He was a very happy child until it got dark,” said his mother, Sarah. “He ate looking up and anything chest down he would trip over.”

Creed was diagnosed with a mild form of autism, but by the time he was 2, he was legally blind, so doctors searched for other answers. Creed's bloodwork revealed LCA, a retinal degenerative disease, and further testing showed it to be a type of LCA that responds to gene therapy.

“It was an incredibly joyous occasion,” Sarah Pettit said.

Now Creed is enrolling in a Phase III trial of a gene therapy that has helped people in trials recover most of their vision.

Success stories like Creed's can be as rare as the prevalence of conditions such as his. Rare diseases by definition number about 7,000 worldwide, affecting some 30 million people — about half of whom are children.

Most rare diseases are caused by genetic mutations, and the boon of genetic testing is making diagnoses quicker and cheaper, said Dr. Barry Byrne, director of the University of Florida's Powell Gene Therapy Center.

Once the genetic mutations are revealed, “that gives us the basis for treating those conditions by gene therapy,” Byrne said. “The first step is understanding the molecular cause. And then we evaluate whether there's a way to restore the gene function.”

The public had a chance to peer into the complex world of gene therapy and the conditions they aim to treat on Thursday at the Founders Gallery at the UF College of Medicine. Some 20 rare diseases, including LCA, were on display to commemorate Rare Disease Day, a worldwide event aimed at raising awareness of these conditions.

Fourteen-year-old R.J. Kugelmann sat at a table on Barth Syndrome, a metabolic disorder that causes the heart to weaken, a compromised immune system and delayed growth. It affects just 150 boys in the world — most of whom R.J. knows.

Diagnosed at age 2, R.J. said living with the disease is the only life he has known.

“I know my limitations. I just don't play sports,” R.J. said, adding that he loves to cook — fried chicken especially. He always carries a hand sanitizer and gets an injection three times a week to boost his immune system.

His parents started the Barth Syndrome Foundation to help support research on the disease and identify those with it.

Jan Kugelmann, R.J.'s mother, said finding the other boys has been rewarding. “You don't have to explain why you're not out there playing ball,” she said.

R.J. will soon visit his best friend in Australia, who also has Barth's Syndrome.

Kugelmann said starting the foundation has been empowering, especially since R.J.'s diagnosis was a bittersweet moment. “It was like ‘Now what can we do? We have a name but no cure,' ” she said.

For the next generation of doctors and researchers, finding cures, not to mention delivering proper diagnoses, is a heady challenge.

As first-year UF medical student Nayelah Sultan perused the tables Thursday, she didn't recognize many of the diseases. But she's eager to learn and said learning their names might one day be helpful for spotting those “zebra cases” in medical practice.

“This could be that once in a lifetime.”

Contact Kristine Crane at 338-3119 or kristine.crane@gvillesun.com.

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