Wait and see. I’m not sure. Nothing we can do. Just wait a few years. It can be different by patient. We really don’t know what will happen to you. The science just isn’t there yet but maybe someday.
In the 22 years since my diagnosis with muscular dystrophy, we’ve taken leaps forward in every imaginable way: created social media, cell phone computers and modified our livestock for ultimate milk production. We’ve defined the muscular dystrophy genes, identified the proteins and raised hundreds of millions for drug research.
But from where I sit, it still feels like it could be 1998.
22 years later and there is no cure or drug you can take to stop, halt, or ease the symptoms. There are no approved lifestyle changes, exercise programs, or supplements that every doctor will urge you to take.
What I have experienced as a patient with a rare disease is a lot of disappointment, crushed hopes and the sinking sense that I’m in this by myself. Self advocacy sure sounds like one of those empowering buzzwords – but when you’re managing a disease like muscular dystrophy – it can be hard– even impossible.
I feel 100% responsible for my health. I can’t count on any doctor, non profit or drug company to experience the same pressure I experience on a daily basis.
I’ve heard I should be grateful it’s not worse. I’ve received fear-inducing newsletter articles from patient groups titled: “How to Choose a Chair” and the “Reality of Marriage”. And I’ve been told to keep quiet when I dare to question why pharmaceutical timelines are so wrapped in secrecy.
Balancing a degenerative diagnosis is an exercise in contradiction: every day I am thankful for where I am, and frustrated at where I am not.
It’s thanking the universe that you haven’t lost your mobility or independence and then having to rely on a blue parking pass for an accessible spot.
It’s leading a big meeting then holding back the tears when you can’t get up from a conference room chair or a public toilet.
It’s being at a beautiful spa then realizing the ADA room is actually only accessible via 21 stairs.
It’s being proud you can deliver two babies naturally, and distraught that you can’t get their sleeping bodies up two flights of stairs.
It’s finally going scuba diving for the first time then realizing you must rely on the guide to lift you onto the boat.
It’s feeling unstoppable as a successful single mom then feeling crippling anxiety when you attempt to explain your unusual situation when dating.
Life as a successful, fun-loving, and independent woman with muscular dystrophy is a life of contradiction. From moment to moment you can feel limitless, or limited, 1000x a day.
My identity is still the hardest part to manage. Accepting my body and its current reality is a daily struggle. I’ve created so many new dreams in my 43 years: a successful marketing agency, two beautiful children, a lovely home, extensive travel and an incredible group of friends, family and colleagues.
I’ve recovered from a lost job, a lost marriage, family health struggles, financial strain, tragedy, but muscular dystrophy continues to be a daily strain I can’t seem to break free from.
Living with muscular dystrophy feels like founding a startup: you know what you want to create and yet there isn’t yet one existing model on how to get there.
The trickiest part to accept is the drug development process. Five years ago, I heard a gene therapy for my disease was created: it worked in the mice models! Finally I was ready to be dosed and got the green light that I don’t have the antibody immunity that would leave me disqualified.
That drug? It still sits in a lab, a mere 9 miles from my home. The timeline? Sorry, that’s a complicated balance of profitability and drug approvals and the patients aren’t privy to any information as to when that might happen. It’s impossible to describe the soul crushing feeling that a drug is finally ready … and then it’s not.
So I wait. And I say, what next?
Every moment, I look to prevent the falls that have ended in 10 broken bones. And each day, I try to surround myself with people who value me where I am. I constantly have to coach myself into accepting what seems unacceptable, while never losing sight of the future cure I desire.
The Cure Rare Disease family is the first patient experience that ever gave me true hope, understanding and belief that progress is more than words.
It’s an entire community of survivors, trailblazers and patient advocates who spend time asking the most pressing question: what’s next? And they don’t stop there.
We are only limited by playing by the rules, by doing what has been done and by believing that better isn’t possible.
I’ve always hated rules.
I’m finally limitless with a team that thinks that breaking rules and making new paths is our only hope for a cure.
Together we are not stuck by past drug failures. Together we are using new technology, new strategies and collaborative teams to make real change.
I’ve finally found my people. And I am forever grateful that we walk this path without limitations: together.