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.
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”.
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 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.
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 simpler 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.
The 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.
Last Sunday, I had the pleasure of attending the Jain Foundation’s 2016 patient conference in Dallas, Texas. The Jain Foundation exists for the sole purpose of finding a cure for dysferlinopathy (my disease), so I am always eager to help them when the situation arises. They knew I was attending business school and had a story that might resonate with some of the younger patients. As a result, they asked me to share my patient story, with a particular emphasis on goal-setting and navigating the early stages of the disease.
I was thrilled to speak at this conference for several reasons. First off – I’ve never been to Texas. This is actually the farthest away from home I’ve ever been. Second, I would have the opportunity to meet many people I only knew online through the Discovering Dysferlinopathy Facebook group. The only other time I had met any patients with this disease was at the 2013 Jain Scientific Conference in Washington, D.C.
I prepared my presentation a few days in advance, after I had a couple days to relax from graduation. During this time I inevitably watched segments on the news about how awful the security lines were getting at the airport. As it was Memorial Day weekend, I was mentally preparing for chaos.
We got up at 3am Saturday morning (yup, it was as fun as it sounds) for a 6:30am flight out of Bradley airport outside of Hartford. Thankfully, we had TSA PreCheck and was able to avoid the security lines since my dad was rolling me around in a wheelchair. If we didn’t have PreCheck, I think we’d still be in line.
That morning was not without drama, however. Right as we got near our gate, a woman walking down the corridor, not five feet from me, proceeded to throw up all over the floor. My dad did not see this, and nearly wheeled me right into the puddle. As you can imagine, I began to freak out and pointed at it, nearly throwing a temper tantrum to get as far away from the puddle as possible. When he finally got me to the seating area by the gate, he wheeled me around to face the corridor, just in time to see her throw up again in front of the women’s bathroom. Gross, I know. It was 5:45 am, so she either was hungover or had some sort of stomach bug/norovirus that I wanted no part of.
As someone who gets motion sick very easily, it was not the most pleasant experience to have in advance of the flight. Thankfully, that woman was not on our flight, and we made it to Dallas without an issue. We arrived by around 9:30am central time, and checked in a little after 11. I fell right asleep. I did not get much sleep the night before, even though I went to bed at 9pm.
So, to be clear, the conference wasn’t technically in Dallas. It was at the Dallas/Fort Worth Airport, at the Grand Hyatt attached to Terminal D. Given that people from all over the country (and who have mobility challenges) would be flying in, it made sense to have the conference in this venue. I did get to see the Dallas skyline from afar which was cool, but the only thing that screamed “Texas!” at the airport was the set of taps at the hotel bar. You don’t see Lonestar on tap in New England.
After a few hours spent resting, my dad and I attended the reception in the hotel ballroom. It was a great opportunity to meet some of my fellow patients in advance of the actual conference the following day. I met several new people at my table, which was exciting up until the point where I lost all energy and started to fade. It was going to be a long Sunday, so I resolved to meet everyone else at that time when I surely would have more energy.
My dad and I both fell right asleep….only to get woken up by the craziest thunderstorm I’ve seen and heard in years. The rain (or was it hail?) pounded against the window, with incessant thunder and lightning. My dad slept right through it, but, light sleeper that I am, I was wide awake, irritated and fascinated by the spectacle taking place outside.
Somehow I got up Sunday morning, although I was in a groggy haze. I needed multiple cups of coffee just to be able to form a complete sentence. I was scheduled to speak at 11:30, but happened to step out of the room a few minutes before my talk, and since they were behind in the schedule they switched my time slot with someone else. As a result I didn’t have to speak until the afternoon, which actually worked out great, as it allowed me to a) wake up fully and b) get more comfortable with my surroundings. By the time mid-afternoon rolled around, I had met more of my fellow patients, which meant more familiar faces in the audience.
As I mentioned before, my talk (which you can find here) was part patient journey, part lessons learned. Although I am a perfectionist and can aways find flaws in my presentation, the barometer that truly matters is that of the audience. Gauging from their reaction, my talk resonated with them, which was my sincere hope going in. After my talk, many people came up to me to introduce themselves. They enjoyed what I had to say, which meant a lot since I wanted to help others who were in my shoes.
The conference as a whole was fantastic. The different presentations were informative and relevant to issues I was concerned about, touching on topics related to accessibility, advocacy and empowerment. Most importantly, I made several new friends. I succeeded in meeting a significant portion of the patient attendees at the conference (I’m terrible at estimates but there looked to be around 100 people total who came, including family members), although I was not able to quite meet everyone.
Having this disease is one of the loneliest feelings in the world. Not only is it incredibly rare, but no one in the general population (including family and friends) quite understands what someone with this disease is going through. I don’t mean that in a bitter or resentful way, but the truth is, like other rare diseases, not many people can relate, simply because they don’t have the disease. What made this conference so important to so many patients who attended was that everyone could understand what everyone else was going through. For many who attended, this was the first time they met someone else with dysferlinopathy!
As soon as the conference began, it was over. On Monday we left to return to our respective corners of the country. The flight home was a bit bumpier than the flight down, which meant I was holding on by a thread by the time we landed. Not packing dramamine was a major oversight.
Nausea aside, it was an amazing experience, and I can’t wait for 2017. I hope next year other patients who could not attend can experience the joy of meeting new people without having to explain why you look or move differently. It is a tremendous feeling and an even more tremendous relief.
Last Monday – February 29th – was Rare Disease Day around the world. The day exists to raise awareness about rare diseases and the urgent need for increased funding in order to bring about treatments. Just as important, the day celebrates patients like myself who are living with a rare disease, and helps to reinforce how we are part of a much larger community. According to Global Genes, there are approximately 350 million people around the world living with a rare disease, which shows that collectively, we are anything but rare!
I had the honor of speaking at the Massachusetts State House as part of their ceremony to commemorate Rare Disease Day. I was actually supposed to speak at this event last year, but, as I’m sure you all remember so fondly, it was a terrible, terrible winter. I simply could not make it downtown with all the snow on the ground. Fortunately I was invited back this year, and I gladly accepted. Even better, there was no snow to be found.
I had not been to the State House in many years, and had never been in the Great Room – a large, open room on the second floor with high ceilings and natural light shining through the roof. It was 65 and sunny out, so there was plenty of sunshine in the room, which set the mood for the uplifting ceremony.
I was the third of four patients to speak, after opening remarks from the emcee and a state representative. There were over 450 people registered for the event, and almost all of them showed up, as all the seats were full and the back area was standing-room only.
When I got up on stage I was a little nervous, but then I calmed down and started talking. I reminded myself that I had given this talk many times before. I could have used notes but decided not to. For some reason I am more comfortable when I memorize what I am going to say rather than referring to notes as signposts. Every time I watch a speaker look at notes I get distracted, so I try to not be that person, even though it is perfectly ok.
My speech turned out well, although I always feel like I can do better. I am a bit of a perfectionist. Afterwards, I was approached by several people in the audience who enjoyed hearing me speak, and wanted to connect after the event. Perfect speech or not, this why I do it. I enjoy using my story to help inspire others and to open new doors for myself that would not have opened otherwise.
The only downside to the day was that it was exhausting; I just don’t have a lot of energy anymore. I tired out quickly from standing and talking to people, then sitting down for long periods of time, then alternating sitting and standing as the photographer took pictures. I got home afterwards and took a nap, and ended up missing class.
Nonetheless, it was an exhilarating day. In addition to speaking, I also had an article published on STAT, which has been a goal of mine since it launched late last year. STAT is a life sciences website owned and operated by the Boston Globe. I am one of the first patients to be featured on the site, which is quite exciting. Hopefully there will be more opportunities for me to write for them in the future.
I heard from people from all parts of my life who liked and commented on the article, and who wished me well as I spoke at the ceremony. All in all, this was a day and an experience that I will never forget.
Here are some links to the pictures that were taken at the ceremony: