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:
When my internship hunt began last fall I wanted to stay in the Boston area, where I am comfortable and where I feel safe. Boston is familiar; it is a constant. It is an anchor in my otherwise change-filled, stormy existence. As a result, I never seriously entertained the thought of moving to another city for a job, especially a city as large as New York. I have nothing against the Big Apple, however it takes a special person to thrive amidst the hustle and bustle. New York is not for the faint of heart – it is big and fast and uncompromising. It is the type of place that will eat you up and spit you out if you aren’t careful. You have to keep your head on a swivel and your focus sharp otherwise you will get overwhelmed by its unrelenting pace. Some people thrive in New York; others wilt under the pressure.
I distinctly remember having trouble adjusting years ago when I visited the city, a time when I was far more mobile. Every time I’d come down to visit I’d end up with a massive headache, whether it was from the adrenaline rush or from sensual overload. I never felt comfortable in New York. Fast forward to last November. New York was still not a credible option. Even if I found a job in the city, I thought, the logistics would be a nightmare, or at the very least a hassle I didn’t need to endure. Fate apparently had other ideas. One night at the last moment I decided to attend a company information session, and came away impressed. I felt I had nothing to lose in applying. Next thing I know I was booking a train down to New York in the dead of winter. Shortly thereafter, I was given an offer I couldn’t refuse.
So naturally, where am I writing this from? New York. As I’ve learned by now, life doesn’t follow a script. It’s funny how it all played out. I remember telling myself at each stage of the interview process that I wasn’t going to go through with it, but a voice deep within kept telling me it was a risk worth taking. Every time I wanted to stop the process and withdraw my name from consideration, I said yes when I was convinced I was going to say no. At the end of the day, it was the right opportunity, at the right company, at the right time in my life. This chance may never come along again. The hourglass of my mobility is slowly, steadily, draining towards empty. If I didn’t move to New York now, would I ever get this chance again, while I can still walk on my own two feet?
I am three weeks in, and am happy to report that I have acclimated myself quite well. Thanks to the support of my parents and my fellow BC’er who I’m interning with, the logistics have worked. I am happy with my decision, especially since it is only for a summer and it provides a perfect test run of the city and of the job. I have adjusted about as well as I can reasonably expect. However, the adjustment has not been without frustration. When is it ever?
I used to love walking down streets and getting lost in my surroundings. New York has some of the most beautiful architecture in the world and a variety of neighborhoods with varying degrees of grit and charm. Each street is famous and unique in its own way. Going for walks was always a favorite activity of mine. Exploring neighborhoods always added context to my life. To have my ability to walk slowly taken from me, as you can imagine, has been excruciating. I don’t mind not being able to run and I can live without climbing stairs, but walking freely has been the toughest ability to lose. Since New York is so big and so many of the subway stops are only accessible by stairs, I have to be driven everywhere. I can’t tell you how many buildings I’ve passed by that I want to see in greater detail, or restaurants I want to wander into and eat everything on the menu.
In Boston I have been able to distract myself from what I’ve lost by focusing on schoolwork and spending my time with friends. I know which places I can go to and which to avoid due to inaccessibility. Here in New York, it has been quite the learning curve. It has taken me a while to build up comfort with the city, and believe that there are actually places I can go to that are accessible. Right now whenever I hear about a cool place I check Google Street View and Yelp, only to find out more often than not that I can’t get in. This year marks the 25th anniversary of the Americans with Disabilities Act, yet I still often feel like an afterthought in an able-bodied society that values “historic preservation” over inclusion. I can’t even imagine what it was like 25 years ago.
But none of this is new to me, nor is it unexpected. The most difficult adjustment has been in answering questions about my disability. Since I am in a new city, in a new place of employment, I am surrounded constantly by new people. Inevitably, I am getting a lot of questions such as “Did you injure yourself?” or “What happened to your leg?” as I fill up my cup of water or while I’m being driven to work. Some people have asked where I live, and when I tell them it’s only three blocks away, they say “Oh nice, it’s not a bad walk then.” For that answer, it’s best to nod.
It’s not a fun spot to be in. On one hand, when someone asks about my crutches I could say “Actually, it’s not an injury, I am disabled” and watch as the person’s face contorts in horror. On the other hand, I could outright lie and say “I injured my back”. I don’t like either extreme, so the best answer is usually somewhere in between; a half-truth if you will. “Yeah, I’m having leg problems” or something like that. The fewer words the better. Usually when they realize you are not willing to talk about it they drop the subject. When they ask where I live and assume I can walk three blocks, I know they mean nothing by it.
These questions hurt. They force me to have to answer about why I am different (my crutches and how I walk), yet deep down I know that the person is sincere and wants to feel empathy for me, so I have to answer respectfully. If I answer “Yeah, I can walk it under extreme duress”, they become humiliated, I become humiliated, and no one leaves that conversation feeling good about themselves.
This is why I like to tell everyone – especially if I am in a new group of people – as soon as possible about my condition. Although I don’t like bringing it up, it’s like pulling off a band-aid: it is better to get the pain over with as soon as possible.
You are probably thinking by now that I’m having a terrible time down here, but I assure you that is not the case. Improbably, despite these bumps in the road – and that’s what they are, small speed bumps in the grand scheme of things – I have adapted to my surroundings. You see, a city like New York shows you quickly what you are made of. Although I’ve encountered the inevitable ups and downs, there is nothing this city can throw at me that can compare to what I’ve been through.
New York has thrown me out of my comfort zone, but then again I can’t remember the last time I was in my comfort zone. Playing it safe won’t get me to where I want to be. At this point in my life, I have come to believe that there is something greater at work, and I have to let it play out. The dots are connecting. Whether I am actually on the journey towards the cure for my disease, or I have merely tricked myself into believing it, I don’t know.
But what I do know is that I am not satisfied. Until I can say that I can walk those three blocks home without lying through my teeth, until I can say yes to going somewhere without dwelling about accessibility, until my body doesn’t feel like a prison anymore, I will not be satisfied. I will put up with every disappointment, every frustration, every question, every societal injustice I have to if it makes it worthwhile in the end.
I still can’t believe I ended up in New York. Then again, I’m right where I need to be.