The need for real-world evidence to inform therapies can no longer be denied. Gathering standardized feedback from patients where they live can give researchers richer details into the effectiveness of treatments. However, sharing real-world experience with researchers and the general public is also the foundation of patient advocacy. We spoke with Alan Thomas, founder of Ataxia & Me, a charity in Wales that advocates for ataxia and related rare diseases.
What Is Ataxia?
Ataxia is a degenerative nervous disease that damages the cerebellum, the part of the brain responsible for coordinating movement. Therefore, many of the symptoms mimic someone who is drunk. This leaves many patients with ataxia frustrated because people, including doctors, have never heard of ataxia and therefore immediately misdiagnose their symptoms.
“That misconception is so widespread,” says Thomas, who didn’t receive a diagnosis until adulthood. “It didn’t hit home to me until one day when I was just diagnosed, and I was talking to someone outside a public house, and a friend of mine stopped and said to me, ‘How long have you been in there?’”
Thomas has heard similar comments ever since. “I’ve been all over the world with other ataxians and they’re always accused of being drunk. It’s such a common thing to happen.”
This becomes especially difficult in emergency situations. If someone with ataxia is in an accident, for example, medical professionals first assume the patient has been drinking.
“I’ve been working with a lot of health authorities to get the message across to doctors not to think, ‘Oh, they’re drunk,’” says Thomas. “Just think of something else, like having a red flag system on their medical records, or something like that that just alerts the doctor to look somewhere, think something out of the box.”
Adding to the confusion is the variance of symptoms, not just from patient to patient but from hour to hour. For example, stress can exacerbate symptoms.
To underscore the difficulty in finding specialist help, ataxia is a rare disease, so there are very few specialists for it, leaving many patients struggling with long-distance travel to much-needed appointments. To reach his specialist, for example, Thomas must travel seven hours by train, limiting his visits to once or twice annually.
The definition for rare disease varies by jurisdiction. In the United States, for example, it’s any disease with fewer than 200,000 occurrences. In the European Union, it’s any disease that affects fewer than 1 in 2,000 patients.
Roughly 7,000 rare diseases have been discovered in the world, with an estimated five to 10 being described for the first time in scientific literature every week. This makes it difficult for patients and their caregivers to find each other. In addition, these diseases are so rare that many cities and towns won’t have an organization dedicated to it.
That’s why Thomas, who lives with cerebellar ataxia, founded Ataxia & Me. It’s a patient advocacy group for the approximately 140 known forms of ataxia plus associated rare diseases and movement disorders. By focusing on patient advocacy for a range of related disorders, he and his organization can help more people.
How Patient Advocacy & Research Work Together
Patient advocacy is more than just building awareness among the public and medical professionals: it’s also about helping inform research. For Thomas, it can be a never-ending journey of social media networking (often with the help of a volunteer student) and traveling around the world to conferences.
“I find that a lot of charities focus on the research element of the work,” says Thomas, “which is good, but I did feel like it needed more patient input, so I founded the charity to make sure that the patient’s view is put across.”
The patient’s view is important, because it can let researchers focus on what can really improve the lives of patients with ataxia.
“Ataxia affects so many different aspects of life,” Thomas says. “The main ones are difficulty with speech, balance issues, and lack of coordination, so that covers a whole multitude of things. So, if there was any research project that would alleviate any of those symptoms, the ataxic community and a lot of other health conditions will benefit.”
Thomas explains something critical to rare disease research there: that research for one rare disease does not mean that the results apply to only that disease. The results could indeed be transferred to other diseases with similarities. Registries help, because they collect a wider range of data over a wider time span than is possible with visits to specialists.
Patient registries can support clinical trials precisely because they can reach patients all around the world. Indeed, that is one strength of a well-designed registry: it can capture important data from a patient’s everyday life, not just the few minutes or days a patient might be at a clinic once or twice a year.
“A registry is more towards the patient itself, and what the patient feels is relevant,” says Thomas, underscoring his reason for engaging in advocacy work in the first place.
Because rare disease patients have varying degrees of mobility, financial resources and access to transportation, researchers risk small participant numbers in their studies if their studies take place at a research centre. In fact, requiring research to take place on site can make it impossible for many patients to participate.
Thomas agrees and says that one key factor in a registry is global accessibility. “Then all the patients can contribute.”
A global registry accessible via secure cloud servers and/or wearable devices has several benefits. It can
- include more patients in research;
- help ensure that the research is relevant to patients’ lives;
- connect tiny, local communities into one larger, global one;
- give researchers everywhere access to real-world evidence; and
- speed up the time needed to find effective treatments.
Although Ataxia & Me doesn’t currently have a registry, it is on Thomas’s wish list. Instead, he points people to relevant registries, for example, the Pulse Infoframe ataxia registry created for the Friedreich’s Ataxia Research Alliance (FARA).
“I think the way Pulse Infoframe works—their view of global interoperability—is very forward thinking,” says Thomas. “It’s amazing just to think that there’s a company out there that’s thinking along the same lines as us.”
To learn more about how a registry designed for your community can help patient advocacy, research progress, and access to research, please contact us.