LAPORTE, Indiana – The first time Jake Tompkins knew something was wrong was when he fell off a stage. He was a touring musician, playing bass guitar. During a club show in Oakland, he couldn’t understand why he couldn’t keep his balance, or why his brain would tell him to play one note and his fingers would play another.
Then he hit the floor. “People thought I was drunk or on drugs,” he said. It was neither. Tompkins had Friedreich’s ataxia (FA), a rare degenerative neuromuscular disorder that affects about one in 50,000 people in the U.S. When Tompkins, 36, was diagnosed in 2004, he did what many afflicted with the disease do: He hid. The New York native moved to North Carolina where he knew no one and, because he lost the ability to play his instrument properly, he became a recording engineer. For 10 years, he was in denial. “I didn’t want people to see me,” he said.
For most people with FA, the symptoms often appear during childhood: They lose coordination of their arms and legs, experience extreme fatigue and slurred speech, and some develop heart conditions. Because the disease is rare they are unlikely to know someone else who has it. “Scary and lonely,” is how Tara Herman, a 40-year-old single mother from the Buffalo, N.Y. area described it. Diagnosed after her second child was born, she said the disease “makes you want to be alone with your feelings.”
Which is why a grassroots event in rural Indiana called “FA Woodstock” has quietly become akin to the storied Woodstock festival for multiple generations affected by FA who need one another. Every year for three days in July, people from all over the U.S. and in Europe who are affected by the rare disease travel to a 20-acre horse ranch in LaPorte County, about 90 minutes southeast of Chicago. Like any excursion at the height of summer, they camp, they swim, they make crafts and they eat and drink and watch fireworks. The event, founded and hosted by an Indiana couple whose daughters have the disease, is also a boon to researchers, who have been using the access to so many patients to help speed along a treatment or even a cure.
The recent scene on the grounds of the Flying H Ranch looked like a family reunion: Children tossing balls in a pool, their parents enjoying pulled pork sandwiches under a tent, dogs running after a trailer taking kids to a fishing hole, teenagers huddled under the eaves of a barn to make tie-die T-shirts, others leaning over the rails to coo at a baby goat. But it soon became apparent that this family is bonded by something other than blood. Wooden tracks laid over the grass allowed for easy wheelchair access to and from buildings and, in some corners, adults in wheelchairs gathered in clusters for lively conversation and cocktails.
Physical therapy and nutrition can slow the progression of their disease, but those at the reunion said the knowledge that FA could shorten their lives sweetens the time they spend with each other.
“Life is short and we only have one life. We can’t wait for somebody to find a cure to live,” said Francois Saez, 48, who traveled to Indiana from his home outside Paris. “These people are my family.”
The event is a kind of a prolonged open house hosted by Tom and Paula Hook. The ranch is their home. The fifty volunteers who keep things running are all friends from the area. Much of the food is donated and local police officers pitch in for the fireworks.
Paula Hook said the impulse for starting the event dates back to when her daughter Kati, now 33, received her diagnosis at the age of 19, and was reluctant to leave her bedroom for years. “I hated that,” she said. Carli, a second daughter, was diagnosed shortly afterwards. The first Woodstock was meant to give them and other young people their age an opportunity to hang out. With the help of two friends, the Hooks announced the event on Facebook, threw together some food, and on the first day 35 people showed up.
That number is now up to 105, many of them families. “The parents get more out of it than the kids do because it is nice to know you are not fighting this alone,” Hook said. Besides enjoying the sun and outdoors, Hook said parents compare notes. “Some of the quirky things that you think that only your child is doing, these people will say ‘no, my child does the same thing.’ It just gives you a sense of belonging,” she said.
Louie Wilks-Reeves, 15, traveled alone to Indiana from Brighton in the U.K. He says that even though his friends back home know “the basics” involving his disease, it isn’t the same as spending time with people who are just like him. “It makes me feel less alone,” he said.
Lisa Woods, 50, heard of the event through a Yahoo parents group in February. Her 13-year-old daughter Lilly was diagnosed five years ago and just recently Lisa can tell that “her friends are starting to leave her behind.” So she drove the five hours from Medina, Ohio to give her daughter a chance to meet new friends. In one day, success: “It’s awesome!” Lilly says on a pool break. Back home, the teenager said she is self-conscious that she “walks like a zombie.” But at the Hook ranch, she said “they all have it so I’m not the odd one out.”
The event’s success has attracted the attention of the Friedreich’s Ataxia Research Alliance (FARA), an advocacy group outside Philadelphia that raises money for research. So far there are about five clinical trials in process to find a treatment and Felicia DeRosa, the group’s communication director, says “it’s a matter of time” until one is approved. “We have lost young people, which is why we are pushing so hard,” she said.
The German physician Nikolaus Friedreich first described the condition in the 1860s but it wasn’t until 1996 when it was understood as a gene alteration that limits frataxin, a protein connected to energy production, which leads to the degeneration of heart muscle and nerve cells. The reason it is so rare is that both biological parents must be carriers of the mutated gene, even though they may not show symptoms of FA themselves.
Woodstock is integral to the research. At work inside the Hook house is David Lynch, doctor and program director at The Children’s Hospital of Philadelphia who is also one of the world’s leading researchers of the disease. By the end of the weekend he will have pulled 1,000 tubes representing samples – blood, DNA, cell cultures – from not just those afflicted with the disease, but also their families. They will enter a wider global registry that will help the clinical trials. He says the access to so many patients in one sitting is “unheard of.”
“The main reason why clinical trials fail in rare diseases is because you don’t find enough subjects,” he said. “The reason things have moved so fast with the trials is because of the community led by the people at FARA and those at Woodstock.”
The trial that is nearest to completion involves Actimmune, a manufactured protein by Horizon Pharma approved to treat malignant osteoporosis, among other conditions. Lynch said that a three-phase study will conclude late this year with results expected the first quarter of 2017. Julie Ball, the director of clinical development for the company, mingled with families on the first day. She said in the past companies like her own “didn’t engage them in the process. We would talk with opinion leaders and patient organizations, but never really spoke to a patient. That’s changing now.” Listening to individual stories she says helps the company understand how to coordinate the trials among patients.
But for older adults who have lived with the disease for decades, news of pending breakthroughs for treatment, or even a cure, is bittersweet. Many say they are now accustomed to their lives and are less interested in a cure for themselves. They want a remedy so others will get to enjoy the pleasures of a young life that they were denied.
Through sunglasses, Saez watched from his wheelchair as children splashed in the pool. He is a retired financial controller who says the disease has taken away many things he once enjoyed, like playing the piano and writing. But this day was not about him.
“I like to see the young people smiling,” he said. “People are dying all over the world so when I see young people smiling I think, ‘okay, we have potential.'”