Three weeks ago (time flies!), I had the opportunity to attend the first-ever Limb-Girdle Muscular Dystrophy conference, which took place in Chicago over Labor Day weekend. Although everyone who attended the conference had to contend with the logistical challenges of traveling over a holiday weekend, it was well worth the frustration and hassle.
This was an opportunity too good to pass up.
The idea of having a conference for all limb-girdle patients, regardless of one’s subtype, is not a new one. There are Facebook groups with thousands of members where limb-girdle patients of all subtypes communicate with one another and share advice and experiences. Many are good friends, but have never had the chance to meet in person. Until this year, there has never been an opportunity to bring all these different patients together, under one roof, for any length of time.
In the back of my mind is an internal clock, one that tracks the time that has elapsed since my last fall. Well, it doesn’t count the exact days (it’s not that good), but it knows that my last fall was on the Fourth of July 2018, a little more than six months ago. I remember that day vividly. I was in North Carolina visiting my sister, and after watching the fireworks on TV, I retired for the night. As I was about to climb into bed, my right knee bumped into the box spring, causing me to lose my balance and crumple to the floor. I was shaken up but otherwise unhurt.
To go six months without a fall, given my advanced weakness, is a miracle in itself. But I knew my good fortune wouldn’t last, that eventually the clock would reset one of these days, in sudden and violent fashion.
Although my life is chaotic, with its share of frustrations and challenges, on the whole, I can’t complain.
It’s been a while since I’ve done a list, so rather than write a sentimental essay to commemorate Thanksgiving, I figure instead I’d rank everything that I’m thankful for this year. Why not?
Without further ado…
Things that give me joy
18. TV shows. Outside of sports, I never really watched a lot of TV as an adult. Now that I live with my parents and have the post-dinner energy level of a tranquilized sloth, I have become a fan of many shows. I don’t have Netflix, so I watch what’s on cable. Some of my favorites: Chicago PD and Fire, MacGyver, Hawaii Five-O, The Good Doctor, NCIS: New Orleans, and of course that hot new intellectual thriller, Jeopardy.
Bonus favorite show that my mom hates with a passion: The Curse of Oak Island.
Last week, I had the exciting opportunity to speak on the opening panel at the NORD Breakthrough Summit in Washington, DC. NORD, which stands for the National Organization for Rare Disorders, is a patient advocacy organization dedicated to individuals living with rare diseases and the organizations who serve them.
The purpose of the conference was to bring together different stakeholders in the rare disease space to discuss topical issues that affect the community. The theme of the conference was “The New Era of Patient-Focused Innovation,” and my panel, titled “The Next Generation of Rare Disease Advocates”, was slated to be the keynote. I wish you could have seen my face when I found that out! It looked something like this:
As the keynote panel, we had the task of setting the tone for the entire conference. The plan was to have each of us share our personal story and how we became a rare disease advocate. Once I learned who else was on the panel, I knew we would knock it out of the park. I was thrilled to take the stage with such a distinguished group, and even more thrilled that I still qualified as “the next generation”.
Note: This piece has been entered in the Patients Have Power Writing Contest run by Clara Health designed to raise awareness about clinical trials. I am passionate about this cause and hope it will help raise much needed awareness about the power of breakthrough research.
About three years ago, I read a news article that I thought had changed my life. A new gene therapy clinical trial was being developed for my disease, Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B). I was on cloud nine. For the first time since I started experiencing muscle weakness in 2008, I felt like there was a cure on the horizon.
Reality soon set in.
Two years later, I checked in on the progress of the clinical trial – a pilot Phase 1 trial – and saw that it was still struggling to meet its recruitment goal of three patients, even though it had been open for almost a year. I groaned. I sighed. I welled up with frustration. What had once seemed like a surefire path to a cure now seemed elusive, yet another false hope on my patient journey. Reality had sunk in – this drug discovery stuff is hard.
I can go from months where I don’t notice any change in my strength to days where it feels like I am weakening by the hour. Over the last couple months, another wave of weakness has infiltrated my muscles, right as I was starting to adjust to my new level of strength. I can track my decline based on the everyday activities I perform, and whether or not they are harder to do than the day before.
Lately, getting out of bed with my walker has become a chore. It requires all the upper body strength I can muster, which is not much these days. My biceps have just about shriveled away, following the lead of my triceps which dissipated a couple years back. My chest and abdominal muscles, once muscular (I’m not talking beach body, but I used to be in shape!) have been replaced by fat. I press with all my might to get up, and although I am still able to stand upright, I worry in the back of my mind about the next time. What if my arms give out or I throw out my back? It’s a long way to the floor.
There are different pieces of equipment out there to aid in the transfer and lifting process, equipment that I am going to need to entertain at some point. I also have my dad who can help me, but I can’t rely on him forever – he is going to be 70 in September and has back issues of his own. Unfortunately, every time I go through weakening fits like this, I procrastinate on getting new equipment. It is a bug in my program.
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.