Rare Disease Week 2023!
Rare Disease Week 2023 happened to fall on my spring break from graduate school this year, so I had the honor and privilege of joining over 600 rare disease advocates with 300 Congressional meetings in one day, representing over 300 patient organizations through the EveryLife Foundation for Rare Diseases and the Rare Disease Legislative Advocates (RDLA) advocating on Capitol Hill. The experience was everything I dreamed of and then some! I have long known that I have wanted to advocate for individuals with rare diseases and people with disabilities on Capitol Hill, but I thought I would need to get my PhD to have that happen in real life. On a real-life timeline, I estimated that would happen around 2030 at the earliest. Nope! As soon as I learned that I got a travel stipend, my mind was set. Capitol Hill 2023! Seven years earlier than I ever imagined possible.
Monday morning, I got a bright start with the FDA’s Virtual Rare Disease Day conference streaming on my phone as we traveled from my cousin’s home in Charlotte where we spent the night on the way to D.C. I was astounded how much I understood from my higher education and classes that I had taken as recently as 7 weeks prior to my journey to Washington! It made me start to contemplate if I was certain that I wanted a PhD in the social sciences over the natural sciences. I had let one bad professor with a long history of ADA violations form my entire opinion on the natural sciences, but the reality is I am hard-working and intelligent enough to pursue either path! The seed was planted on Monday. By the end of the lectures on Monday, my brain was packed with information, but I was excited to be back in-person with everyone! FDA had reported that over 5700 people signed up for the special day!
Tuesday, February 28th was the day: World Rare Disease Day 2023! I cautiously wheeled my wheelchair, Nemo, up to the line for security at the National Institutes of Health (NIH/NCATS) ensuring I had the email with the QR code to get checked-in and my Gold Star driver’s license used for federal identification domestically. When I got to the back of the line, I struck up a conversation with college professor who had told her students that class was cancelled for her to attend RDD@NIH in-person. It made me laugh, when I started thinking about the possible creative reasons my own professors had cancelled my classes! We started chatting about rare diseases and I found out that, like me, she also has Ehlers-Danlos Syndrome (EDS) and Mast Cell Activation Syndrome (MCAS)! Our loud banter carried on as we worked our way into the security checkpoint and I saw a few rare disease patient friends along the way!
When I got to the x-ray machine for bags, I was told to put my backpack on the conveyor belt. I explained that I was physically connected to my backpack and showed the security guard my slack feeding tube clearly running up my shirt. Yes, my backpack charges my body! After a quick pat down, visual inspection of my bag, and peeking underneath my wheelchair, I went to get my official NIH visitor’s identification badge at the counter. With my ID badge in hand, I went to find the elevators to get on to the main part of the NIH campus. I carefully rolled up the hill through holes in the sidewalk so big that they were larger than my wheelchair and very deep! Thankfully, another rare disease patient came alongside me and asked if I needed any help. I am not one to typically accept help, but this was a treacherous hill to get up to the auditorium where everyone would be convening. I enjoyed several sessions of speakers, even though I had asked the NIH if they would have the event captioned for deaf and hard of hearing attendees, they told me to use the app for the captions. My phone battery could not handle that all day, so I did my best and most of the speakers were pretty easy to hear.
Then, I started hearing the one sound that patients on tube feeds dread. *Beep* *Beep* *Beep *Beep* Low battery and I had some insulin onboard as a Type 1 diabetic! If I did not find some place to charge my pump soon, the pump was going to stop and my Dexcom G6 continuous glucose monitor would start blaring that I had a low blood sugar. I quickly found a member of NIH staff on our next break and explained the situation. He gave me a look that I will never forget as he scrambled to find an open wall outlet. He acted like if we did not find a plug for me in the next five minutes, we were going have some life-threatening medical emergency. In the moment, I followed him around, but he cracked me up with his much-appreciated sense of urgency! I made an Instagram story video explaining the situation and showing my current situation of having to be plugged into the floor. I mean, if you are a continuously tube fed diabetic, I mean I guess the NIH is not the worst place to have a feeding tube try to die on you with active insulin in your system! The people that come to the NIH are all pretty medically complex after all! I wish the world was that accommodating!
Not long after, my fellow YARR member Abbey Hauser took the stage for the presentation I was most excited about for that day on “Becoming My Captain,” where they explained how the transition from pediatric to adult medicine went for them and how it could potentially be improved. With just a year’s difference in age, we had gone through the transition to adult medicine at around the same time. Abbey killed the presentation, and it was so creatively laid out! The day continued with catching up with some EveryLife members and our friends with Global Genes! After the long day, I decided to forego the movie screening and watch from our hotel room in Arlington-Crystal City. Sure, I would miss the panel discussion with the cast, but I wanted to make sure I got some good sleep! Attending RDD@NIH and hearing Abbey’s presentations were two of the highest priorities for the day.
The next day, it was a bright and early start to my day again! My mom took me over to the Ronald Reagan Building and International Trade Center for the Legislative Conference. I got there early, and I had to make a quick decision. Mask or not? On one hand, I am so sick of wearing a mask 5-6 days a week. On the other, I know I cannot get sick. I decided to trust my immune system to do its job as I selected the green lanyard that indicated that I was ok with handshakes and high-fives and attached my name tag. Looking back, I am so glad that I did not stay in my comfortable little bubble while in D.C. Life is too dang short to be wearing a mask for years straight with no breaks.
I caught up with Stephanie Riordan who sent the life-changing email in 2022 letting me know that I was going to be receiving one of the $5000 #RareIs academic scholarships for my Fall tuition/books and a portion of Spring tuition. That is how generous the scholarship was and it allowed me to save a little to help with preparing to pay for spring tuition (my most expensive semester of the program). I got the opportunity to thank one of the representatives from Horizon Therapeutics for the generous scholarship, which was pretty cool!
Afterwards, I went in and started meeting up with Team South Carolina! We had one of the best tables in the house and we had CART too! Hallelujah! Someone thought that everyone should be able to understand what was going on without working too much harder. I learned that I was a part of not only a very smart team, but a very passionate, hopeful, and driven team. This team did not sit around and complain. They all worked hard to try and affect some changes for themselves and others. I learned about an amazing, super awesome little boy with HCU, a condition that means that he has to consume almost no protein to stay healthy. We were led by an awesome YARR with idiopathic hypersomnia, which means that even after a good night’s rest, in her words, she still feels like she has pulled three all-nighters. I met another person who started an awesome organization to educate the world on ultra-rare spinocerebellar ataxias that affect her and her family. I met one of the organization heads of “Bubba’s Light” that help shed light on all rare diseases and the father of a child with a fatal form of peroxisomal disorder. Then, there was me with my “laundry list” rare and ultra-rare diseases, that I was too impatient to type out every single one. We had a young man with no personal connection to rare disease join us on the team, which I thought was so mature.
In my “ask” of Congressional leaders, I was going to be focusing on Stiff Person Syndrome (SPS), so I taught my team a little about it. Throughout the day, we covered everything that we were going to be asking of South Carolina legislators. After lunch, the five #RareIs scholars met to hear each other’s stories about how they got into advocacy, followed by a great breakout session where YARR members Lexi Levine and Kyle Underwood shared about how rare disease affected each of them. Lexi’s story about her brother, Barry, captivated the room and through her tenacity and advocacy, Lexi learned that Barry had a condition called Jordan’s Syndrome, which inspires the work she does today. Kyle spoke on his journey with Hunter’s Syndrome and I learned a lot from my fellow YARR members.
Afterwards, I headed to the Rare Hub for the YARR meet up. It was only an hour, but it might as well have been 11 years. I was able to chat with so many different young people with rare diseases, goof off, eat all the hard candy I wanted, the future is extremely bright for the rare disease space if this small sampling of YARR members told us anything. People that I had met online, I met in-person for the first time. I enjoyed time with some members of my Speakers Bureau class and it was such a joy to see how much they had grown since our time in training together. I am not the most sociable person when I am tired, but I am so thankful that I stepped outside my comfort zone, because it was one of the most empowering experiences of my life.
Truthfully, we had such a massive team as a state, other than introducing myself and my rare disease affiliation, I did not speak a lot during the four Hill meetings, but I was like a machine going from the House side to the Senate side and back all day long! Nemo got a lot of mileage in that day. Security was almost too easy to believe, but I did the same thing going through Hill security that I did at the NIH with my backpack. However, the security guards checked me and my bag a lot closer than they did at the NIH. It was reasonable though and no one made a big deal about it. Refreshing in a world that normally makes such a big deal over my medical devices that I need to monitor myself and adjust accordingly. It was super cool to see that the one Senate building has a subway that will take you to the U.S. Capitol Building. That was a sight to see! The meetings went so well that it was over before I could even process the entire day. Those same underground hallways connecting buildings have been walked by the people that have been change agents before me and it is the same space that the future advocates will follow me in. It was like a dream… and I never wanted to wake up!
This Rare Disease Day was special for the community; especially those with Friedrich’s Ataxia with a drug receiving approval from FDA on Rare Disease Day. The amount of hope, community, passion, drive, and empathy that all 600+ advocates and staff have for all rare diseases is enough to power a nation. South Carolina has a half a million people with a rare disease. Three of them are in my family alone.
We know we cannot do this alone. It will take every one of us turning that ripple effect into a wave that Congress cannot ignore for generations to come. We all want clinical trials. We all want FDA-approved treatments. We all want cures. For some, that may come in time. For others, it may not. Nevertheless, each advocate had their voice that we wanted to amplify. And amplify stories, I think we are doing. We are turning the tide for rare diseases and as for me, it starts with Sen. Tim Scott, Sen. Lindsey Graham, and Rep. Joe Wilson SC-02.
I cannot wait to continue growing as an advocate at the state/federal levels and meeting with my legislators in my home state of South Carolina during Rare Across America in August 2023! Thank you to the EveryLife Foundation, the RDLA, YARR, and Horizon for a week that I will never forget!