A Weekend at the National Limb Girdle Muscular Dystrophy Conference

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.

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Boston

As I write this, I am back home in comfortable, quiet Connecticut. But my mind is elsewhere.

Recently, I had the opportunity to spend two weeks in Boston, my adopted home for 12 of my 32 years. To say that I was excited to visit the city for an extended period of time is an understatement. I was thrilled.

My years in Boston, from 2004-2016, were the most eventful years of my life. They formed me into who I am today.

Boston was where I went to college, worked for six years, and got my MBA.

It was where I first noticed symptoms of the muscle disease that would take over my life.

It was where I made lifelong friends and lost a dear friend.

It was where I fell many, many times.

It was where I questioned my very existence and the point of this frustrating, maddening hand I was dealt.

Most important, it was where I learned to pick up the pieces of my life and start over again.

Boston is where I grew up.

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Road Trip, Part 1

Oh, hi there!

Yes, yes, I know. I haven’t written in a while. I am well aware. I guess you can say I’ve had a bit of writer’s block recently, and with the MDA Clinical & Scientific conference fast approaching, I also had a handy excuse not to write for a few weeks.

Which is a good thing, because the conference, and the road trip to Orlando, gave me a lot to write about.

Although I wasn’t technically on the road each day, I was away from home for three weeks, which seemed like an eternity. That is a long time to go without my adjustable bed.

But all in all, it was worth it. I had a great time at the conference, and also had a chance to see my sister and her family for a few days, which made the aches and pains of a long car trip bearable.

Rather than write a long narrative, I feel like making a list instead. I like lists. Most importantly, it’s easier to insert GIFs into a list.

This particular list is not ranked in any order. Instead, it’s 18 thoughts to commemorate the 18 days I was away from home. At least, that’s what I counted on the calendar. If it turns out to be more or less, too late.

This post is broken up into two parts. Even in list form, I can’t help but write thousands of words.

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The Reluctant Traveler: The NORD Breakthrough Summit

On stage at the NORD Breakthrough Summit. Dr. Gupta leading the discussion on the right.

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”.

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The Reluctant Traveler: TV Star(?)

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!

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The Reluctant Traveler: Spaulding Rehab Hospital

This past Tuesday, I had the honor of sharing my patient story at Spaulding Rehabilitation Hospital in Boston, one of the great medical facilities in the country. In my talk, “Partnering with Patients on the Road to Acceptance”, I chose to focus primarily on my interactions with various healthcare providers over the years. Just like anyone else dealing with a chronic disease that involves a revolving door of doctor’s visits and specialists, I had many heartwarming and nightmarish stories to share with the audience.

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A.C. Petersen Farms

Quick tangent: I am all about using acronyms when possible. I was originally going to preface this title with “The Reluctant Traveler”, in order to distinguish it from my regular posts, but it felt too wordy. Then, I was going to call this “TRT: A.C. Petersen Farms”, but according to Google, “TRT” stands for Testosterone Replacement Therapy, which would be a rather odd thing to associate with my travels. You might forget TRT stands for that but I never would. Needless to say, I will not be using a preface, and will just tag these posts under “The Reluctant Traveler” instead.

Now to the topic at hand. Recently, I had the pleasure of eating at one of my favorite childhood restaurants in West Hartford – A.C. Petersen’s. This landmark has been around in some form for over 100 years, occupying its current location on Park Road in a beautiful art-deco building. I grew up coming here, and it was nice to be back. It brought back a lot of memories from childhood – a much simimg_2257pler time.

My parents and I came here mid-afternoon, after running errands and driving around most of the day. It turns out we were the only customers in the restaurant at 4pm which, for two retirees and this unemployed 30-year old, meant dinnertime.

It was a nice, peaceful break to our hectic day, and best of all, everything was just as I remembered it. The kitchen counter and its round, cushiony seats welcomed us when we entered the front door. Overhead, the old, trusty sign showcasing the restaurant’s dozens of ice cream flavors rotated slowly, still kicking despite its age. To our right was the main dining area, completely unchanged, with dark brown walls and long tan booths in the middle aisle that can sit an entire party of children. Late afternoon sunshine poured through the windows on the right, illuminating the window seats where I’ve spent many a time gazing out at the streetscape while eating ice cream. There was a comfort to this familiarity that I hadn’t felt in a long time.

img_2258The menu, however, was a little different – more options than I remember, but then again, more options is usually a good thing when it comes to food. After carefully weighing the pros and cons of several sandwiches, I ended up getting the tuna club. My mom followed suit with a tuna sandwich and my dad ordered an omelet. As we were the only customers, the food came out quick, and like any respectable diner, the portions were enormous.

Since there was no one else in the restaurant, I didn’t feel weird taking pictures of the interior. However, I still – and always will – feel weird taking pictures of my food, so sadly, no pictures of my meal here. Just imagine a tuna sandwich on top of a tuna sandwich, held together with a toothpick, and that’s what my tuna club looked like. Besides, any time spent taking pictures of my food would delay eating, and I was starving. I devoured the sandwich and the curly fries (seriously, what’s better than curly fries?) in minutes.

Like any responsible adult, I made sure to leave room for ice cream. I ordered the chocolate peanut butter cup ice cream, one scoop instead of my usual two, doused in whipped cream and hot fudge. I don’t usually eat like this anymore, so by the time I was done I was ready to be carted out on a stretcher. It was worth it!

Leaving the restaurant, I was thrust back into the present. The brick Park Road sidewalks aren’t the best for someone like myself, since it’s tough to gauge where there are uneven bricks, and the gradient of the sidewalk can be deceiving. I nearly wiped out walking to our van, but stopped myself in time. I may be living in a perpetual state of change, but it is always nice to have a place like A.C. Petersen’s in your neighborhood that has stayed the same over the years, providing a beacon of comfort and stability. Hopefully it won’t be several years before I go back again.

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Ok I lied. One food picture.

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