I’m 44 years old, and was officially diagnosed with Friedreich’s ataxia (FA) at age 19, so you might say this article is 25 years in the making! I can tell you with absolute certainty that over these 25 years I’ve learned that “we’re all in this together.”
I was fortunate (or maybe unfortunate?) to have experienced significant physical ability during my early years. I guess it was a double-edged sword because, day by day, I’ve been stripped of all these abilities. I used to love doing daredevil stunts with my bicycle, doing wheelies, jumping ramp to ramp and other fun things. As a young teenager I was a good athlete — an all-star shortstop and number-one singles tennis player, and basically an all-around sports enthusiast. It feels very strange to write these words while being in a wheelchair all day, unable to stand, never mind walk or run! I went from running to walking, to walking with a cane, to using a walker, to using a manual wheelchair, and now I use a motorized wheelchair for mobility.
For 24 years, my professional career has been in mechanical/facility engineering; for the last 18 years I’ve been at a leading international consulting engineering firm. Basically, I’ve chosen to use my brain. Over the years, I’ve found it extremely powerful to make sure I consciously reframe everything I do as a “choice,” not something I’m forced to do. Making a choice to use and develop my brain has helped me to make many significant and positive contributions!
Based on my 25 years of constantly pursuing information about FA, I’ve come to truly believe that medical researchers will figure out how to develop effective treatments and cures for many of the 43 neuromuscular diseases MDA is now fighting. Being an engineer all my life, I’m not a “pie in the sky” type person, but because I’ve personally observed the researchers’ advances over the years, I can honestly say there will be many significant breakthroughs in my lifetime.
Back in 1982 when I learned I have FA, there was absolutely no hope of any effective treatment. But in 2008, thanks to relentless work by MDA, the Friedreich’s Ataxia Research Alliance (FARA), and other organizations worldwide, there have been many significant breakthroughs. The strong partnerships MDA has formed provide even more concrete momentum toward an extremely bright future!
For example, in 1996, an MDA-funded research team found the exact gene that, when defective, causes FA. MDA is investigating the possibility of working with a biopharmaceutical firm which is attempting to develop a drug that increases production of the necessary protein frataxin in people with FA.
Some might say that I’m “waiting for a cure,” but personally I can’t stand the concept of WAITING! For me, I must be engaged to the absolute fullest extent I can. A phrase that I like to live by is “if it’s not broken then break it,” meaning keep pushing your personal comfort zone, make a sustained effort to keep growing. Don’t wait for anything!
As a person with a muscle disease, rather than “waiting for a cure,” I think it’s my responsibility to help the search in any way I can. I feel so fortunate to have Jerry Lewis and so many people fighting for us. I hate to think what my attitude might be without that support, or without the support of my loving, intelligent and fun wife, Sue.
|Nicholas A. Johnson is a senior mechanical engineer at Bard, Rao + Athanas Consulting Engineers, Watertown, Mass. He can be contacted at firstname.lastname@example.org or 35 Crescent Street # 119, Waltham, MA 02453.|
Some of my days are filled with chronic pain that’s so intense it takes my breath away. In fact, this intense pain is ripping through my body as I write these words. I guess this feeling of pain keeps me at a high level of consciousness. Clearly, life is not a rehearsal. This is it! Every effort we can muster up can have a huge ripple effect.
I’m extremely honored to have been an MDA National Personal Achievement Award recipient, a member of MDA’s National Task Force on Public Awareness, and to serve on FARA’s executive committee and board of directors, which gives me a chance to work with many special men and women who fight the good fight every day. This is the very definition of teamwork and collaboration — and certainly doesn’t feel like “waiting.”
In addition to my impatience with the “W” word, I definitely have mixed feelings about the word “cure.” Maybe it comes from my engineering background, but for me the word just isn’t clear enough. What exactly does it mean? I prefer “effective treatment that reverses and eliminates all side effects produced by the disease.” Now that’s specific!
Progress of any kind requires collaboration and consistent teamwork on many levels. While looking forward to FDA-approved treatments and an effective treatment for your specific neuromuscular disease, it’s essential to have a personal support team to optimize your life today.
My personal support team is made up of three people: me, my wife, and my primary care physician John D. Goodson, of Massachusetts General Hospital in Boston. Dr. Goodson is truly among the best of the best! It’s taken me a very long time to find him and his positive impact on my overall health cannot be overstated — if he hadn’t agreed to become my primary care doctor, I might not be here today to keep fighting and to write this article. Over the years, our relationship has grown far beyond patient and doctor, to one of authentic friendship.
For those of you who also aren’t “waiting,” who have a support team that helps you thrive today and a constant, blazing, burning desire to help with the fight against neuromuscular disease, I suggest we form a team called “Team White Hot.” A fire burning white hot is a force to be reckoned with. Our general mission will be to help in any way we can while we’re living here on Earth. Teamwork!
We can start by brainstorming what each of us can do to help in this fight, drawing from our natural strengths and passions. Ask yourself: What can I do, what do I choose to do with the resources I have?
I’m not waiting for a cure — are you?