Dealing with Progression

Friedreich's Ataxia is progressive. This is one of the most frustrating parts of the disease and something that every patient experiences. Not only am I not getting better, I am constantly getting worse. And there is no way to stop it or predict it.

I feel like a lot of people that I have met since I have been in a wheelchair have a hard time understanding the progressive nature of FA. They didn't see the drastic change that was walking --> walker --> wheelchair. My progression now is really only obvious to me, my family, and my physical therapists. There are still constant changes in progression, but they are just not as obvious as using a new mobility device was.

I had a pretty normal childhood. I did gymnastics, I danced, I rode horses, I played t-ball. I wasn't always the "girl in a wheelchair" or even the "girl with FA." I was just like the other kids my age. It wasn't until I was around eight that my parents thought that something might be off. They waited for me to say something, though. At the age of eight, I didn't really care. I thought I was just clumsy and that was the way it was. It wasn't until I was twelve that I started to wonder if something wasn't right. That was the first time I said something to my parents and we slowly started to look for more information from doctors. All of the doctors appointments and tests that followed ended with the diagnosis of Friedreich's Ataxia.

So, no, I wasn't always in a wheelchair. I was a pretty normal kid. There wasn't even a thought that I had a rare disease, even though I was born with it. FA is a genetic disorder, so I was born with the gene that causes it, but there was no way for anyone to know that. We just had to find out later.

My FA gene was inactive for most of my childhood. However, that doesn't mean that it wasn't there. I can promise you that it didn't just appear (haha). Most people's onset is between the ages of 5-15, but some people's isn't until their 20s or 30s. Progression starts from the moment of onset and continues throughout the patient's life.

There are many reasons that progression is so frustrating, but one of the main ones is that it is unpredictable. Your doctor can't tell you the day you are diagnosed when you aren't going to be able to walk anymore. When I least expect it, I lose an ability that I was relying on. I cry many tears over things I struggle to do that I know used to be easy for me.

Progression is gradual. I didn't just wake up one day unable to walk. But it still is one of the most difficult parts of this disease. I am constantly having to teach myself a new way to do things. Learning to cope with progression is something that I will always struggle with. It's exhausting, physically and mentally.

Scientists are working hard towards a cure, but the first step is stopping progression. FA can't be reversed until it's stopped. Maybe there will be a treatment that does both. Maybe it will be separate therapies that come at different times. I don't know what the future of science will look like, but I do believe that one day FA will be a disease of the past. Maybe it won't be in my lifetime, but I know it will happen eventually.