Collaboration with FARA
We reached out to FARA (Friedreich’s Ataxia Research Alliance) a non-profit organization based in Pennsylvania, USA, who are dedicated to the pursuit of scientific research leading to treatments and a cure for Friedreich’s Ataxia. We are delighted to collaborate with FARA for this informative blog about Friedreich’s Ataxia.
What is Friedreich’s Ataxia?
Friedreich’s Ataxia (FA) is a genetic, progressive, neuromuscular disease. Individuals with FA encounter difficulties with balance and movement coordination — a condition known as ataxia. The initial signs of FA often manifest as ataxia, although scoliosis or heart muscle disease may be the first noticeable symptoms for some. The spectrum of symptoms over time can be wide-ranging, encompassing fatigue, difficulties with speech, serious heart problems, spinal curvature (scoliosis), diabetes, hearing loss, and vision impairment.
FA impacts an estimated 5,000 individuals in the United States and 15,000 worldwide. While most diagnoses occur between the ages of 5 and 15, a significant portion of individuals experience the onset of symptoms and receive a diagnosis in adulthood.
Genetic testing is the definitive method for diagnosing FA, confirming the presence of specific gene mutations that underlie the condition. Early diagnosis is paramount for effective disease management and optimizing quality of life. Access to expert neurologists and geneticists is crucial for accurate diagnosis, whether FA or another neuromuscular disorder.
The treatment landscape for FA has undergone a significant transformation in recent years. In February 2023, the first-ever medication for FA was approved in the United States for individuals aged 16 and older, followed by its approval in the European Union a year later.
My name is Brittany, I’m 30 years old, and I am a patient ambassador and volunteer for FARA. I live in Manitoba, Canada, which is right in the center of the country and known as the polar bear capital of the world. As you can guess it gets absolutely freezing in the winter but surprisingly warm in the summer. We enjoy every aspect of the four seasons here.
My FA diagnosis began with a harsh diagnosis of Crohn’s disease (an irritable bowel disease). After so much time being sick, I became unsteady on my feet.
My rising clumsy nature was thought to be the result of being bedridden but after some time at physical therapy that was deemed untrue. At 13 years old I was diagnosed with Friechreich’s Ataxia. It was a traumatic diagnosis for my family as my older sister was also diagnosed. It took quite some time but acceptance eventually came.
I am currently almost 18 years post-diagnosis. I keep busy with multiple odd jobs (bookkeeping and casual travel agent tasks) and I volunteer with multiple organizations including Friedreich’s Ataxia Research Alliance (FARA), Ataxia Canada, and Assiniboine Park Conservancy. It goes to show I love nature, organizing, and the Ataxia community.
I am currently a full-time wheelchair user now and I try not to affect one of my biggest passions which is traveling. Everything takes time for me to do physically but I try to not let it stop me. Canada is a HUGE place, I’ve gone both east and west but I still have much more to see. Each province has its disability limitations though overall it has good accessibility. I live in Manitoba’s capital, Winnipeg, which has its pros and cons. It is in the prairies and it is pretty flat, the majority of the city’s buildings are accessible, and door-to-door public transit services work wonders. But our long winters, 5-6 months of snow, are very difficult. Snow and wheelchairs DO NOT get along. It is frustrating but manageable when needed. Winters are just extra cozy when you need to stay inside.”
Written by The FARA Ambassador Blog Team and FARA Director of Communications Laura Preby
Read More at Sociable
This blog article was origially published in our latest digital magazine at www.thisissociable.com. The full article features more real life stories from individuals with Friedreich’s Ataxia.
