Today is one of my favorite days of the year: Rare Disease Day. Held annually on the last day of February, it is a day to celebrate those living with rare diseases, and also to raise awareness for the many different types of rare diseases that exist in the world. And there are many.
I consider it to be one of my favorite days, not because I enjoy having a rare disease (let’s be serious!) but because it brings out all the wonderful feelings that make life so meaningful – love, community, passion – just to name a few. What you won’t find, however, is pity – just the opposite, in fact. Rare disease patients don’t want you to feel sorry for them, just to understand what it’s like to walk a mile in their shoes.
Today I had the pleasure of appearing on WTNH’s Good Morning Connecticut, which is Ch. 8 here in the state. It was a great opportunity to raise awareness for Rare Disease Day, which is taking place this year on February 28th, and also to talk about my personal experience with a rare disease. I always enjoy opportunities like this to break out of my shell and reach new audiences. Many thanks to Quinnipiac and Ch. 8 for setting this up!
This is a continuation of my post from earlier in the week, which you can find here.
In Malcolm Gladwell’s famous book, Outliers, he talks about several factors that set high-achievers apart from the rest of the population. One of the main takeaways of the book is something called the “10,000 Hour Rule” – basically, anyone who has ever become an expert at anything has needed to immerse themselves in a task for at least 10,000 hours. This holds whether you’re the Beatles practicing to become the greatest band of all time, or Bill Gates learning to program a computer.
Although the premise has been the subject of intense debate, what is beyond argument is that the more you practice or experience something, the more of an expert you become. It’s rather straightforward.
Assuming the 10,000 hour rule is mostly true, I boldly assert that I am an expert at being a patient with muscular dystrophy. It’s an odd thing to say, but ever since it took over my life ten years ago, it’s always been on my mind. It has changed me physically, emotionally and spiritually. Many of my experiences cannot be adequately explained to the general population, no matter how much someone wants to understand.
My life seems to be moving in fits and starts these days. Two steps forward, one step back.
If you have been following my journey for any length of time, you know this is nothing new for me. It comes with the territory of living with an adult-onset muscle disease. Pick your favorite metaphor – life with this disease is a roller coaster, a series of peaks and valleys, a twisting and turning road. Left, right, up, down – the path is never straight or level. The lack of continuity is often maddening, and always frustrating.
I’ve learned how to keep a level head through it all, but sometimes, life can be too much. Sometimes, no matter how hard I fight, I have to admit defeat. Not a lost war, but a lost battle.
The other day, as I was typing away on my laptop, trying to write a chapter in my book, the “F” key detached for what must have been the hundredth time. Somehow, the underlying pins broke off about a month ago, and, rather than spend $300 to have the entire keyboard replaced, I have been toughing it out ever since.
Enraged, I was tempted to take the key and throw it across the room, but knew that if I did that, the key would win, and I would have to avoid any words containing “F” for the rest of the book. Try to write a paragraph without the words “of”, “if”, “for”, or “from”. It’s not gonna happen.
I want to wish everyone a happy and healthy New Year! 2017 was interesting to say the least. May 2018 bring you joy, happiness, and a whole lot of laughter. (And more eaglets.)
Personally, 2017 has been an up and down year, although I’m sure everyone else can say the same. Like any year, there were exhilarating highs and frustrating lows. (Case in point, my “F” key is broken and I’m trying to avoid any words containing the letter “F”, but I’m failing in fantastic fashion.) Overall though, I can’t complain. I made it through another year. I still have my family, my friends, and my health, and I’m still walking on my two feet.
So it turns out I may have jumped the gun a bit on my last post.
About a minute after hitting publish, I realized that I had forgotten a few recent news items, including, oh, I don’t know, a fundraiser that I helped organize for the last six months. My 31-year old mind is not what it used to be. But I can still name the 50 states and all the presidents, so at least I’ve got that going for me.
Since this is my own site and I answer only to myself, I can undo my omissions with a simple follow-up post.
First and foremost on my list of forgotten updates – the rousing success of the 4th annual Strength, Science and Stories of Inspiration fundraiser!
For those of you who are not familiar with the event, SSSI (as we call it for short) is a fundraiser that aims to bring together stakeholders in the Boston-area muscle disease community for a night of entertainment, storytelling and networking. It was started in 2013 by my co-organizers, Sharif Tabebordbar, Albert Almada and Eric Wang, muscle disease researchers who each have a family member with muscular dystrophy.
This year’s event was the third SSSI I have had the privilege of helping to co-organize, and it was our biggest crowd yet – close to 600 attendees! The night was chock-full of laughter and emotion, and built on (or is it upon? I can never figure it out) the success of our previous events.
We had two great patient speakers, Rob Besecker and Monkol Lek, and for the second year in a row our headliner was talented comedian, friend, and ALS family member Max Amini. In addition to our entertainment, we also awarded our very first research fellowship to Maya Maor Nof, a talented postdoctoral researcher at Stanford University. This fellowship has been a dream of ours for several years, so to see it come to fruition was both exciting and emotional.
Overall, it was an exhilarating night, one that I recapped in an article for the Muscular Dystrophy Association (MDA) a couple weeks back.
We announced at the event that we are raising money for next year’s fellowship, so if you’d like to contribute, we are still taking donations! Here’s the link: https://www.gofundme.com/sssi2017
My second update pertains to another MDA article. I was recently interviewed in MDA’s quarterly magazine, Quest, about searching for a summer internship while living with a disability. It’s a topic that I know very well, having dealt with it two years ago. I’ve talked to other patients with MD who have wondered if they could realistically go back to school. I wanted to share my story about my journey so that I could help others believe in themselves that yes, it is possible. School, internship, all of it.
It will require some extra planning, and it won’t be smooth sailing, but it can absolutely be done. In my internship experience, I relocated from Boston to New York City for a summer. Part of the reason I try to push myself is so that later on, I can use the knowledge gained to empower others to do the same thing. So many others have helped me in the same way.
And for my last update – also involving MDA (as you probably can tell by now advocacy is a major part of my life) – I was a last-minute keynote speaker on October 7th!
It was a financial summit sponsored by MDA which took place at the Marriott hotel in Quincy, Massachusetts. The aim of the event was to provide financial advice and planning for MDA families, as this disease can be a burden on a family’s finances. Originally, the MDA national goodwill ambassador, Joe Akmakjian, was supposed to be the keynote, however he got sick and was unable to attend. I was asked Thursday afternoon, and a day and a half later, I found myself in front of a room full of MDA families.
It was a whirlwind day to say the least. Overall, it was an interesting experience – I was told I could just talk about my patient story, but it was a financial summit, so I knew I had to twist my usual story a little bit and talk finances, and how I was able to budget out for things like adaptive equipment and business school.
Although it was last-minute, I was glad to impart some financial wisdom on the crowd, and I know my dad was proud, since after all, he was the one who imparted the wisdom on me in the first place. Without my dad, I don’t know if I would have had the same financial discipline. Well, maybe I would have, but it would have taken much longer to learn.
When I got home Saturday night, I was whipped. The fatigue lasted a couple days, into Tuesday. It was only a week after the Strength Science fundraiser, which also left me tired for a few days. Believe it or not, it can be tiring sitting in a wheelchair all day!
All in all though, it’s been an eventful few months, fatigue aside. As long as I’m able to do all this (without impacting my day job of course), as long as my parents are willing to be my chauffeurs and caregivers, I will continue to stay active in the muscle disease community – writing, speaking, whatever it takes.
I don’t do well sitting still. I think you can tell by now.
Last Friday, I found myself scribbling down notes while listening in on a work call. Every few seconds, I would jot down an action item for follow-up, with an occasional inane doodle in between. I know what you’re thinking – it’s 2017, why am I still writing down my notes? You’ll be happy to know that I use my computer (Evernote) most of the time, it just so happens that, when I want to brainstorm ideas, write down a quick list of to do’s, or take notes passively while listening in on a conversation, nothing beats pen and paper.
Which is why this latest discovery was all the more unsettling.
When I was three months old, my grandmother (“grammy” as we affectionately called her) gave me a white teddy bear for Christmas, outfitted with a matching red beanie and scarf. The bear and I quickly became inseparable, even if it took me a few months to grow to its size.
For reasons that will forever remain a mystery, I named him Bill. Not Teddy, or Buddy, or even Billy. Bill. An old man’s name. (Is his true name William? We will never know.) All I know about my thought process as a three-year-old was that I most likely chose that name at random, or based on a TV character long since forgotten.
Regardless of how Bill was named, he (it feels weird to call Bill an “it”) was far and away my favorite stuffed animal growing up, even after I lost his hat and scarf. Then again, the hat and scarf were a suffocation hazard, so maybe they were taken from me.
Today I am featured on the WebMD website for Rare Disease Day! It is very exciting. I was interviewed a few weeks back (many thanks to NORD for connecting me) for a series they are running about patients living with a rare disease.
The interview gave a brief overview of my condition, my patient journey, and advice I’d give to others who are newly diagnosed with an adult-onset disease. I always enjoy being able to use my story to raise awareness and offer advice to new audiences.