The first time I ever heard of Friedreich’s ataxia was the day I was diagnosed with the disease in 2013 at the age of 25. To say I was in shock is an understatement. I was scared, overwhelmed, confused, angry, eager, and desperate. So, I am going to try to address each of those emotions in the hopes of helping future patients and their friends and family.
Of course you’re scared. This life-shortening, degenerative genetic disease has just entered your world. It’s scary. But you are still the same person you were yesterday, except now you have more knowledge. The scared feeling you have now will fade and eventually change. Right now everything about FA scares you, but soon, just the different phases and symptoms will scare you.
Try to focus on tackling one symptom at a time, and it becomes more manageable and less scary.
I felt so alone when I was diagnosed. There are no case managers for FA. My family and I had to do things ourselves. We had to find doctors who had heard of FA (bonus points if they had ever seen a real patient with it) and decide what to do next.
We decided to gather as much information as possible so we would know which direction to turn. (HINT: Beware of your sources during this information gathering stage. Avoid random Google searches. Stick to reputable sources.)
So what is FA? FA is a life-shortening, debilitating, degenerative neuromuscular disorder. About one in 50,000 people in the U.S. have Friedreich’s ataxia. It has a wide spectrum of symptoms caused by low cellular levels of a naturally replenishing protein substance called frataxin, due to insufficient activity of frataxin genes in our flawed DNA.
Let me break it down in layman’s terms: Basically, FA patients have a lapse that prevents our central nervous system from functioning like everyone else’s. Our limbs don’t know where they are in space because we are missing critical cellular communication, so we get clumsy and uncoordinated.
Unfortunately, Friedreich’s ataxia can affect many aspects of our bodies. Every patient experiences FA differently, but the common symptoms are: uncoordinated motor function, gait disturbances, scoliosis, diabetes, slurred speech, and in many cases, eventual heart failure. FA is a progressive and degenerative disease, meaning that as time progresses, FA symptoms worsen.
I know what you’re thinking. A wheelchair? Heart failure? This wasn’t what I was supposed to experience at this age! Let me offer some advice and a little hope — every patient experiences FA differently. So before jumping to conclusions, seek advice from experts.
Meet with Dr. David Lynch at the Children’s Hospital of Philadelphia or Dr. George Wilmot at Emory Healthcare in Atlanta, or Dr. Theresa Zesiewicz at the University of Southern Florida (this list is not all-inclusive — there are many more wonderful doctors dedicated to the FA community!) Connect with the fabulous people at the Friedreich’s Ataxia Research Alliance (FARA). Seek a community through social media for people just like you — others who are also dealing with FA.
Keeping busy and moving forward is so important! Get plugged in. Feeling like you are doing something productive is going to be the best treatment right now. Sign up for the patient registry through FARA. This is how you will stay up to date on clinical trials and research studies. And this is also where the smart folks coordinating the clinical trials and research studies pull their information from to try to find us a cure. They need all of the information they can get, so let’s provide it!
Please know that although this is currently no treatment or cure for FA, our community is full of hope and positivity. There are many fundraising and awareness efforts that you can support or participate in, such as rideATAXIA, the Energy Ball, and other local grassroots efforts.
There are also clinical trials and research studies taking place all over the world. Signing up for the patient registry will connect you to information regarding those.
Keep going forward. Keep living your life. FA will feel all-consuming to those newly diagnosed, and may become an obsession. But try to be who you were before this diagnosis. Let it be a subplot in your story — not the climax.
Please know that you are not alone. FA is scary and overwhelming. But it doesn’t have to be. Pursue correct information from knowledgeable sources, do what you can to support FARA, and most importantly, keep moving forward. This isn’t the end. There is so much hope out there.
Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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