Groups ease burden of rare afflictions

Patty Roman, left, of the Village of Hadley, and her husband, Todd, enjoy a golf outing. Patty was diagnosed with a rare cardiovascular condition and has found support in The Villages.

Ginny Edleman’s comfort at diagnosis gave way to uneasiness when her doctor commented on the news he’d delivered. “He admitted they were out in the hallway Googling information and looking in medical books because they didn’t know much about my disease,” the Village of Sunset Pointe resident said. Edleman had been diagnosed with fibromuscular dysplasia (FMD), a condition that can cause narrowing or tears in the arteries. Living in The Villages, she found a friend in Patty Roman, who also has the disease. Ashley Abbott also hadn’t heard of Turner syndrome (TS), a rare chromosomal condition, until her daughter, Bailey, was diagnosed with it a few hours after she was born.

Despite initial feelings of isolation, the women have since found support within the community. 

Edleman and Roman launched an FMD support group that will soon meet again — the second rare disease support group to start locally this year — and for the last six years, residents have participated in charity walks organized by the Abbotts that bring together families of children with TS.

There are no known cures for many rare disorders, said Dr. Fuki Hisama, a professor of medicine (medical genetics) at the University of Washington School of Medicine, but finding others who are affected can help patients cope.

“It wasn’t possible 25 years ago, but now with the internet you can find anybody in the world,” she said. “There’s a patient support group, fortunately, for almost anything.”

Five people with FMD and some spouses attended the first support group meeting in June at The Villages Public Library at Pinellas Plaza. The group plans to meet again in November in Jacksonville.

“We’re just trying to bring more awareness because we know there are more Villagers,” said Roman, of the Village of Hadley. “It’s scary at first. Without a support system, it would be even scarier.”

Marcia Freed started a support group in February for people with immune thrombocytopenia (ITP), a rare blood disorder she was diagnosed with five years ago.

Nineteen people attended the first gathering. The group will next meet at 6 p.m. Tuesday at Coconut Cove Recreation Center.

“I got so many hugs. It really made all of the work worthwhile,” said Freed, of the Village of Liberty Park. “Whatever the rare disease is, you’re welcome. It’s important to have support, it is really is.”

An estimated 25 million to 30 million Americans are living with a rare disease, defined as affecting 200,000 people or fewer.

“I think that there is more interest in rare diseases now, which is wonderful, because the combination of the science and the new treatments is driving interest,” Hisama said. “Just in the last couple of years, the FDA has approved several drugs for diseases that have previously not had effective treatment.”

She pointed to the 2017 approval of a treatment for a form of Leber congenital amaurosis, an eye disease that can cause blindness, and the May approval of a therapy for spinal muscular atrophy, a leading genetic cause of infant death.

Scientists face additional challenges when developing treatments for conditions affecting a small portion of the population, Hisama said.

If organizing a clinical trial, it can be hard to recruit enough patients for meaningful results. Another drawback is funding.

On Oct. 8, the Food and Drug Administration announced it had awarded $15 million in clinical trial research grants to enhance the development of therapies for people with rare diseases. However, more money goes into research for more common diseases such as breast cancer, Hisama said.

“In addition to the usual difficulties, you also have to increase awareness about the disease, sometimes because people have not even heard of it,” she said.

Not knowing anything about Turner syndrome at first, Ashley and her husband, Chet Abbott, started researching the condition.

Typically, women have two X chromosomes in each cell. Patients with Turner syndrome have one normal X chromosome and one X chromosome that’s missing or fragmented. That can cause developmental issues such as short stature, ovarian failure, heart defects and kidney problems.

After learning about how the disorder could affect Bailey and other girls, the Abbotts set their sights on education and advocacy.

Six years ago, they started a local walk benefiting girls with TS, and two years ago they founded their own nonprofit, Bailey’s Butterflies for Turner Syndrome. The next walk will take place in 2020.

With help from walk participants, they’ve raised a total of $125,000 for the cause, Ashley said.

“It makes us feel very blessed to have such a tight-knit community,” she said.

Bailey is now thriving as a fifth-grade student at The Villages Charter School, her mother said.

Like the Abbotts, Carol Beetch strives on a smaller scale to inform the community about the rare disease that’s touched her life.

The Village of Fenney resident’s granddaughter, Emerson, was diagnosed with Pompe disease at four months old.

She spent months in the hospital being treated for the genetic condition, which led to heart and breathing problems.

Emerson, now 3, is doing well, Beetch said.

“She’s a very bright little girl,” she said. “She’s very articulate. She colors within the lines.”

Beetch awaits better treatment options for her granddaughter.

Emerson has a port, a medical device, in her chest that’s used for infusions every two weeks.

“It’s not an easy process to have a needle stuck in you all of the time,” Beetch said. “I just continually hold out hope that they’ll have something better.”

Beetch tries to do her part in advancing research, sewing bags and aprons and making bookmarks she sells.

She donates proceeds to Duke University for its Pompe research, raising $600 for the program.

Strides are being made in the field of rare diseases, Edleman said, and every attempt to bring attention to them helps the community as a whole.

“The more people who know, the more rapidly we’ll all be diagnosed and treated properly,” she said. “That’s what we all need, getting people interested in doing research and figuring these things out.”

Senior writer Ciara Varone can be reached at 352-753-1119, ext. 5395, or