I recently returned from the World Orphan Drug Congress USA in Boston. Traveling with indolent systemic mastocytosis (SM) is always eventful. But this event was worth every obstacle I had to overcome to get there. I spent the night in the airport twice: in Washington, D.C., heading to Boston and in Philadelphia on the way back home. But I made it!
Finding community and making connections
Once there, I had the privilege of meeting other patient columnists and staff of Rare Disease Advisor (sister brand to SM Companion), whom I’d only interacted with from home. It was so good to meet everyone in person. I also had the honor of sharing the stage with them when I was invited to be on the panel “Media as a lifeline: Amplifying voices in the rare disease community.”
This is what we all do when we write these columns. We tell our stories. The good, the bad and sometimes the ugly parts of living with a rare disease and how it affects us. We have to be open and honest to help others going through the same ordeals we each deal with. I try my best to give you all the raw details and don’t ever try to sugarcoat anything. And even though I suffer most days I never give up hope for a better future. If not for me, then for all of you.
My number one goal is to write these columns so that all of you who are new to being diagnosed or in the process of finding your diagnosis don’t make the mistakes I made. I was finally diagnosed in 2000 after years of not knowing what was wrong with me. I do not want anyone else to have to go through what I had to endure.
I left Boston with even more hope for a bright future for all of us. At the conference, I took the time to sit down and speak with many exhibitors. I learned so much about what they are working on and the services they provide. It was inspiring. The presentations I sat in on and listened to made me understand that I have never been alone — I just hadn’t found a community of people that lived life like me.
You don’t have to be alone anymore. The rare disease community is amazing, and strong. Read all the stories on RDA and SM Companion. You will learn so much from the people that are living life dealing with the same things you are probably going through right now.
Fighting for awareness and care — even when it’s hard
I had to overcome my fear of speaking in public to take part in the panel. I am 56 years old and I have avoided this my entire life. I was nervous, but I did it.
There is so much I want to do to get my story out there for all of you to read or listen to. This is my goal now — to help others. I don’t care if I only help one person: it will be worth it.
I want doctors to do better in recognizing rare diseases. Knowing the right tests to run.
I want people going through this to know it may take time and many visits to find the right doctor for them. They may need to go out of state to find that doctor — that’s what happened to me.
It took too long for me to realize this. It took 20 years for me to find the proper healthcare team. I had to fight to get it, but it was worth it in the end.
I want to thank Haymarket Media and Rare Disease Advisor for making it possible for me to attend the WODC 2025. I met inspiring people who I will never forget. I have more hope now than ever before, and I am not one that lacks hope.
Hope for our future. We can’t give up on ourselves. Keep fighting to live the best life you can. We all deserve this. Each one of us.
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