Many scientists working on ataxia therapies focus on the movement, balance and heart problems that are the hallmarks of these neurological diseases.
But a panel of five patients and caregivers at IARC 2017 asked researchers Friday not to forget the vision, hearing, and speech difficulties that a lot of patients face.
These impairments make it difficult for patients to communicate, further isolating them from the world around them and driving some into depression, the panelists said.
The main thrusts of the wide-ranging discussion were the challenges of living with ataxia, what patients and caregivers would like treatments to address, and some of the frustrations that patients feel when they participate in clinical trials of potential therapies.
Their session was riveting, with the audience delivering warm rounds of applause when the panelists made particularly poignant points.
Juliette Dieusaert, head of L’Association Française Ataxie de Freidreich, said her son Jean has been having trouble speaking and hearing, and “he’s now having vision problems.”
His inability to communicate is “difficult for him, and difficult for us,” Dieusaert said. “Everyone wants a cure” for ataxias, she said, but problems with hearing, vision and speech “impact quality of life every day.”
Doctors diagnosed Jean with an ataxia in 2008, but they are still uncertain which of the 100 or so versions of the disease he has.
Matteo Varbaro, an associate professor of mathematics at the University of Genoa who has Friedreich’s ataxia, said his hearing loss makes communication difficult.
Losing vision, speech, and hearing “change the dynamics” for patients and families, making them more isolated, said Jennifer Farmer, the executive director of the Friedreich’s Ataxia Research Alliance (FARA), who moderated the panel discussion. FARA is one of the three conference organizers, along with Ataxia UK and the Italian ataxia organization GoFAR. The event, which started Wednesday in Pisa, Italy, ends on Saturday.
Another problem that ataxia patients know all too well, but that those unfamiliar with the diseases can overlook, is fatigue, panelists noted.
Friedreich’s ataxia arises from a faulty gene failing to produce the protein frataxin, which is crucial to cell components called mitochondria being able to perform their job of generating energy. When mitochondria are unable to produce the energy that cells need, fatigue can be overwhelming, said Felippo Fortuna, a doctor at the University of Bologna who also has Friedreich’s ataxia.
“I wake up tired. I am tired when I have breakfast. I go to work tired. And when I go to bed, I am tired,” he said.
Fortuna also said that the loss of movement and coordination that characterize ataxias can make work and everyday tasks daunting.
When he’s on the job, he said, “I use a wheelchair so I can’t go everywhere I want.”
Even simple tasks such as dressing and “drinking a glass of water become a problem,” he added.
Ataxia makes it difficult to plan your life because you never know how fast the disease will progress, Varbaro said. Deterioration is inevitable because no therapies are available that can slow or stop the progression, but no one can predict the pace of the deterioration.
Varbaro said he’s planning to replace his aging Fiat soon. The question is whether to buy a standard car or one with hand controls. He’s now able to drive without a specialized wheel. But if he buys a standard one, and his condition deteriorates to the point where he needs a specialized steering wheel, it will be costly.
“I can still drive a normal car, but I know at some point in my life I will be unable to drive a normal car,” he said. When ataxia patients are planning, “you have to imagine where you will be in three years,” he said — and still, your guess may be off.
In addition to physical problems, ataxia can narrow your social circle, said Andreas Nadke, a German who is a caregiver for his mother Marion, who has an unknown type of ataxia.
He watched his mother go from walking normally, to using a walker, to using a wheelchair — a familiar pattern with ataxias — and experiencing cramping and pain that are not only physically unpleasant but make socializing difficult.
“She is not able to participate in a normal life,” Nadke said.
Ataxias also pose psychological challenges, the patients said.
Cathalyne Van Doorne of Belgium, who has a spinocerebellar ataxia, worries that one or more of her three children — ages 16, 20 and 23 — may have inherited it from her.
A question that weighs on a family with an ataxia is whether other members should undergo a genetic test that indicates whether they are likely to develop the disease, said Van Doorne, who left her job as a medical biologist after she was diagnosed.
Some family members don’t want to know, concerned that it will affect what they are doing, their outlook and their plans for the future. If they’re going to get the disease, they’re going to get it, they decide philosophically. Others want to know whether they are apt to develop an ataxia, so they can do things now that they would likely be unable to do later.
One of Van Doorne’s children said, “Well, maybe I will test myself so I can do those stupid things I want to do before it’s too late” — like mountain climbing.
Van Doorne drew chuckles while explaining how solicitous her children have become since she was diagnosed.
One day she grabbed one of their hands to steady herself while crossing the street.
“I don’t need a hand,” the child objected.
I know you don’t, Van Doorne said. “I’m the one who needs the hand.”
Panelists also expressed strong feelings about wanting to have more feedback on clinical trials they’ve participated in.
Those conducting the tests sometimes fail to tell patients what the trials are trying to accomplish and, after they’re over, what the results were.
“I think patients in clinical trials don’t get enough explanations — about the risks involved [in taking therapies that are being tested] and also the risk of [trial] failure,” Dieusaert said. “This should be perfectly clear to patients, but it isn’t.”
After a trial, patients look forward to obtaining the results. One reaction when they fail to get them is depression, she said.
“This makes some patients not want to take part any more,” Dieusaert said.
The final question that Farmer asked the panelists was what they would like to see research address.
Vision, hearing and speech problems, Dieusaert said.
“I would like very much to improve my hearing,” Varbaro replied. “This would be very meaningful. I think it’s an underestimated problem.”
He said scientific engineers are developing devices that help people with many diseases these days. The ataxia community would welcome equipment that deals with the problems they face, he said.
Nadke said he would like to see research address the vertigo — or kind of dizziness — his mother experiences and the cramping she suffers.
“I don’t expect to stand up and run and jump,” Fortuna said. But he would like to see therapies that make him “feel stronger and improve my coordination.”
The panelists agreed that it’s important for researchers to work with patient organizations in designing trials.
“In Germany, we know scientists who never see patients,” Nadke said.
Van Doorne said patients should be involved in even the earliest stages of trial planning. The expertise that patients can offer is invaluable, she said, because “patients live with the disease every day. They can tell scientists about aspects of the disease the scientists aren’t aware of.”
As the session wrapped up, some panelists made emotional pleas for ataxia community solidarity.
“I strongly believe in union,” Fortuna said. “If we are together, we can reach a cure for this disease. If we can stay together — people with the same condition — we won’t be lonely.”
“We are now a great family,” Dieusaert said. “Now we are numerous and strong, and together, ‘Yes, we can.’”