Finding Your Rare Disease Community

Finding your rare disease community can change your life. That’s true of my own life, and it’s true of the thousands of people I’ve met over the years, whether in person or via social media. In this episode of Never Give Up: A Rare Disease Podcast, we’ll explore the power of human connection in our rare disease experience.

This episode is sponsored by Ajinomoto Cambrooke and was produced at the 2023 European Society for PKU and Allied Disorders Treated as Phenylketonuria (ESPKU) Conference in Birmingham, UK. Cambrooke’s founders, Lynn and David Paolella, have been friends since the beginning of my PKU advocacy journey and I told part of that story in a previous sponsored article. I don’t typically seek sponsorships in my work. It has to be a product or service that I believe in and use myself. But I have been using Cambrooke formulas (I prefer to call them medical drinks, but I recognize that many still use the term “formula” so I’ll use it in this post) since 2012 and am honored to partner with them to bring you content from the 2023 ESPKU Conference.

Finding Your Rare Disease Community

My journey to the 2023 ESPKU Conference is over. But I’m still thinking about the trip.

It’s hard to capture an experience like this with words. I don’t mean the international travel required to attend the event. That’s amazing, don’t misunderstand me. And I’m beyond grateful for this opportunity.

No, what I think is indescribable is what happens when two people affected by a rare disease sit down and have a conversation. That’s true in a general sense, no matter how those two individuals are affected by their rare disease.

But I want to explore this in a more specific sense.

As a rare disease storyteller, I have to take a step back and examine this life from multiple perspectives. That’s part of the job—to consider as many viewpoints as possible.

And there’s one sort of relationship that, early on in my advocacy work, I never imagined becoming such a profound part of my life. And that’s my relationship with PKU parents. I have heard from countless parents over the years who tell me they discovered “My PKU Life” shortly after their child was born with PKU, and that it gave them hope. That’s an indescribable feeling. Seriously, I don’t have the words for how that makes me feel, both professionally and personally.

I’ve since become dear friends with many PKU parents in our community, including those here at the ESPKU conference. Our conversations were special to me, and I’ll remember some of them forever.

But equally special, in a different way, are my conversations with other adults with PKU.

Meet some of the people appearing in this episode: Mark Edwards, Will Singletary, and Lynn Paolella.

It’s hard for us to explain what it feels like as a PKU adult to have a face-to-face conversation with another PKU adult. No matter where we’re from—across the world—there is a shared bond because of life experience that only someone who has PKU can truly understand.

For this episode, I gathered 26 interviews with people from across the world—the United Kingdom, Croatia, the Czech Republic, Austria, Portugal, Italy, North Macedonia, Ireland, Poland, Spain, Germany, Turkey, Lithuania, the Netherlands, and the United States. So, that’s 27 voices of people affected by PKU, if you include mine.

When choosing my interviews I made geographical diversity my top priority. As a result, out of the 26 interviews I gathered, 20 of them were with PKU adults.

And so, I experienced something deeply personal—something I’ll never forget.

Over the course of a few days, I had face-to-face conversations with 20 PKU adults from around the world. I grew up in total isolation from the PKU community, so that makes me very emotional.

My gratitude is without measure or description.

And, once again, I must say thank you to Ajinomoto Cambrooke for making this experience possible. Check out this article to read about my experience with their products. I gathered so many interviews at the event that I’m now working on another episode. I’ll post that in a few weeks when I release it.

I’m also currently working on a transcript of this episode. One of the limitations of producing a show like this is that I can’t translate it into other languages. I also had to restrict my interviews to those with whom I could communicate.

But I want the community around the world to experience this episode in some way, however imperfectly that might be.

So, I plan to post the text soon so you can translate it into whatever language you wish.

Because one of my goals with this episode was to remind us all…

That PKU has no borders.

And that we are one global community.