Everyday life with Friedreich's ataxia is a constant struggle against limitations - both physical and mental. Every day brings new challenges and the need to adapt to the body's changing capabilities. However, there is hope - a drug that works, as Joanna Kostrzewska, who struggles with Friedreich's ataxia, tells us.
A patient with Friedreich's ataxia: The drug is working. There is hope for a better tomorrow
Published May 20, 2025 12:31
What is your daily life with Friedreich's ataxia like?
Unfortunately, I have major balance and stability problems, weakened arms, my whole torso, so I have to be very careful how I walk. I use third-party assistance for stairs and hills. I am not able to walk down a hill or stairs on my own.
I won't go shopping alone. I am excluded from such daily life, precisely because of my unsteady gait. It varies from day to day. There are better days, but also weaker days depending on whether I get enough sleep, because I also suffer from insomnia. On top of that, there are back pains, since I have scoliosis. But I manage.
How did the disease translate into your life choices, social contacts?
Unfortunately, I lost some of my friends, because not all of them wanted to continue the acquaintance. I think they just got scared. I also could not fulfill myself professionally. I graduated from cosmetology and wanted to be a spa cosmetologist. Unfortunately, it didn't work out because my problems started 14 years ago with knee pain. I couldn't stand or squat freely, and this job is standing, you have to bend over the client, so I had to give up my dream.
What was your path to diagnosis like?
Unfortunately, it was very long. It lasted as long as 12 years. The problems started when I was 15: knee pain, bending.... Unfortunately, I was bounced from door to door.
First, I went to an orthopedist, many times to various specialists - even infectious diseases. Unfortunately, no one directed me to genetics or neurological disease. It wasn't until seven years ago, when the neurological symptoms came, tripping, banging against walls, that my fiancé's aunt said: Asia, maybe you should go to a neurologist. And so it happened.
Initially, I received a misdiagnosis that I had compression in my spine. An MRI did not confirm this. And I went to my angel doctor, who simply said it was definitely not the spine and I needed to go to the neurology department at the hospital as soon as possible.
You are currently receiving treatment under RDTL. How has your life changed, what is the treatment like and what does it mean to you?
Above all, it gives me hope for a better life, for a better tomorrow. It has given me a lot of such motivation to do even more, I exercise even harder. The medicine is working. I have improved on the mFARS scale - this is a specialized scale that shows the course of the disease. The fewer points the better. My points have dropped by as much as 15. The doctor says this is a set back in the disease even a few years. My stability has improved, so I can stand on my feet longer, I can shower more freely, I'm stronger and, above all, my speech has improved, so as I said: there is hope for a better life and I hope the drug will be reimbursed.
