Neuro Key ‘Open Door’ Booklet Gives Voice to FA Patient, Caregiver Stories

Real-life stories from people affected by Friedreich’s ataxia (FA) — featured in a new educational resource —capture the challenges of living with a complex and largely misunderstood disorder, and help to pinpoint areas of improvement needed in disease diagnosis and management.

Called “Open Door,” this series of booklets was developed by Neuro Key, the working name of the U.K.-based nonprofit organization Tees Valley, Durham, and North Yorkshire Neurological Alliance.

Intended as a learning tool, the most recent booklet in the series is focused on FA. The four previous booklets addressed acquired brain injury, fetal alcohol spectrum disorder, presentations of narcissistic personality disorder, and diverse caregivers.

Neuro Key’s hope is that the series benefits anyone living with a neurological disorder. Across the U.K., an estimated 2% of all residents have a neurological condition, and 1 in 7 have caregiver responsibilities, the group reports. Friedreich’s ataxia, which affects about 1 in 50,000 people globally, is an inherited progressive disease of the nerves and muscles.

“The series is collectively created to share our expertise and ultimately, benefit the whole neuro community,” the organization states on a webpage.

The 20-page FA booklet contains narratives written by young people with FA, or by their parents. Fictional names are used to protect identities.

One 18-year-old patient, called “Amelia,” was diagnosed two years earlier. Her story deals with her years-long diagnostic journey.

“It all began when I was 11,” she wrote. “I had just started secondary school … which was already a really hard time as I was getting bullied, the typical kids saying rude things. When I was eating, food started getting stuck halfway down my food pipe, which I referred to as choking.

“Every time it happened I was panicking so much it wouldn’t pass, so instead I threw up. After throwing up, I would be so scared of eating I wouldn’t eat anything else.”

Amelia was first diagnosed with an eating disorder, and followed at a mental health facility for the next three years. But with time she became more clumsy, tripping over her own feet. These muscular issues continued to worsen, and after two years of multiple exams and doctor visits, an FA diagnosis finally came at age 16.

“As my parents and I walked into the room, the neurologist told them that he wasn’t there to talk to them as I was the patient. What came next was a complete shock. He said, ‘As I suspected you have Friedreich’s Ataxia. There are some heart conditions that are fatal, but we will keep an eye to your heart and hope you aren’t one of them. There is no cure or treatment. Do you have any questions?’

“I was silent.”

Drawing on these narratives, Neuro Key lists various areas at the booklet’s end in which changes in approach or greater attention could lead to better FA care and patient outcomes. One recommendation is that healthcare professionals be more mindful of the age of the person with FA, and tailor language accordingly when speaking with them and their parents.

The organization calls for greater consistency across care services, and for more support and identification of parents’ needs, particularly in areas of communication and disease management. Ideally, a multidisciplinary and collaborative care plan should be established, and include early and adequate psychological support, it states.

Neuro Key also calls for protocols covering awareness training, and the establishment of a review into needs of patients who are transitioning from children to teenagers to young adults, particularly regarding access to education and needed adaptations or equipment.

Neuro Key works through partnerships, with a goal of helping people with neurological disorders. Go here for more resources offered by this group.