Rare Disease Day 2021 — Share, Educate, Cure
When I was 20 years old, after 16 months of visiting doctors and specialists in California and Ohio, I sat with my primary care physician and my parents to discuss what a rheumatologist had just diagnosed me with. After sharing the report with my doctor, he said: “I don’t know much about this disease, but I do remember it was an extra credit question on a Johns Hopkins medical exam.” The disease we were discussing is called Behçet’s Disease.
This rare disease began affecting me the age of 19 on a fairly regular basis. When I noticed that this day was coming up soon, I wanted to contribute. The way I know how best to contribute is through writing, so with this, I hope to address these three things aligned with the mission of Rare Disease Day 2021:
1. How does this rare disease affect me, and others with my rare disease?
2. What are some real life stories on how this rare disease has played a huge role in my own life?
3. What does the future looks like for myself and others like me?
#1: How does this affect me and others like me?
Behçet’s, like a vast majority of rare diseases, has a lot left to be discovered and truly understood. That said, Behçet’s is what is known as a “multisystemic inflammatory vasculitis”, or for people with non-medical brains, it affects almost everything in your body. The image below is the best representation of just how variable this disease really is:
All of these symptoms are painful. In regard to the mouth sores: imagine a canker sore that takes two weeks to go away, hurts way more than usual, bleeds when you eat and drink, and last but not least, spreads all throughout your mouth, and sometimes, throat. That is the nature of how its systemic spread works in all of these different areas of the body.
How does the disease flare up? As you might guess, the reasons vary greatly depending on each person. That said, after watching my flare ups for years, my doctors and I were able to pinpoint two specific things we think cause a flare up for me: exposure to sunlight and stress. If anyone can find a scientific explanation for why those two things cause flares, please let me know, because I haven’t yet!
#2: What role has this disease played in my life?
Interestingly enough, I have been fighting an exhausting outbreak of my disease for roughly two weeks now, and had to go into the ER for unexpected treatment on 2/24 after waking up in extreme pain and swelling in my mouth and eyes. This is probably around the 10th time I have gone to the hospital in hopes of getting help to decrease the immense pain from this disease, not including the multitude of visits to specialists for check-ins and new drug cocktails we were attempting in hopes to deteriorate the disease from the inside out.
What has happened this last week is no stranger to me, or many others who have Behçet’s or a similar rare and “invisible” disease. For example, in June 2020 I was hospitalized for 32 hours with COVID-19, as my immunocompromised system wouldn’t allow my SpO2 levels to get above 85%. Or, while in the ER on Wednesday, I was literally making phone calls in hopes to arrange last minute coverage for work calls as one nurse drew my blood and another one examined by eyes. Scenarios like this have appeared for me more often than I’d like to admit over the last five years. Having to live on the fly and pray that you have accommodating family, friends, and teammates around you is critical for people with rare unpredictable diseases. Fortunately, I have both of those things (thank you to you all — you know who you are).
Since 2017, I’ve made major life decisions either directly because of my disease, or out of an abundance of precaution for my disease, here are a few:
- 2016 — I left my full ride scholarship for Naval ROTC to Ohio State due to four months of constant mouth ulcers, hazy/distorted vision, increased anxiety, and inability to perform physically.
- 2019 — I turned down an offer to be a Community Development Leader for a rural town in Ecuador as part of the United States Peace Corps due to concern that sunlight exposure and lack of high quality healthcare there would be a major risk for me while living there for two years.
- 2016 to Present — missing important events such as a birthday parties, networking events, volunteer work trips, and more due to inability to eat or drink from mouth ulcers.
#3: What is the future for rare diseases?
Today being World Rare Disease Day is where we get to hear from one another on all of our tough challenges each of us face with rare diseases, but also a time for us to hear positive news about the future.
Fortunately, we live in a connected world via the internet where we can share clinical trials and medical advancements across the world. One interesting place I always keep my eye on (but sadly haven’t been able to participate in yet) is this site which hosts clinical trials all around the world for thousands of rare diseases. These clinical trials are a shot of hope, literally and metaphorically, for those of us who suffer from rare diseases.
Overall, this blog is meant to serve two purposes:
- Informative to those who are curious and don’t know about this day or my disease, and
- A virtual extending of my hand to those who are in similar boats to myself.
Whether it be your disease causing struggles with relationships, career, family, or anything else it might encroach in your life, I would love to talk with you or someone who you know. The more we can connect with one another, the more potential we have to finding true solutions for one another.
Leave a comment, share with friends, and help us as rare disease members and advocates find one another to connect people who need to be connected in hopes of a healthier and happier world.
In good health,
Kylen
