This Boy Went to the Internet for Help, the Response Shocked Him

Writing on the Internet can feel a lot like screaming into the void. You never know who can hear you or who even cares.

But with the rare disease community already being so small and sparsely spread, the Internet is one of the few places where people can find a real connection.

People like John Paul and his family. tells the story of John Paul born in Argentina, a seemingly healthy baby boy. But in a twist that is all too familiar, something changed.

Within five years, John Paul suffered numerous seizures and psycho-motor retardation, and his parents had no explanation. It was only after flying to FLENI, a noted Argentinian neurological hospital, that his parents found the answer: GLUT1 DS.

Argentina Flag
Over 40 million people live in Argentina. Now imagine the feeling of not knowing 1 other person with GLUT1 DS in the entire country. That was the reality for John Paul until someone came into the picture. Source:Pixabay

Unfortunately, even with the relief of a diagnosis and treatment, John Paul’s family didn’t find the answer to one important question: “What do you do when you’re the only case of GLUT1 DS you’ve found in the country?”

Fortunately, websites like RareConnect—which connects members through 77 different online rare disease communities—provide people with those answers.

John Paul’s story on RareConnect led to a comment by César, who lives in the Argentinian province of Neuquén with his wife and their daughter, Catalina. Catalina, just like John Paul, was diagnosed with GLUT1 DS. In fact, she is the second case of GLUT1 DS in that province.

And now, thanks to RareConnect and EURORDIS (who originally approached John Paul’s family for their story), these families have the means to reach out—and to have someone reach back.

So remember: No matter how isolated you feel, no matter where you are in the country or even the globe, you are never alone.

Keep screaming, writing, and reaching into that void—I promise, someone’s listening.

Be someone’s safe satellite in the void and spread the word about Patient Worthy!

If you know someone who is feeling isolated by their rare disease, pass this story along to let them know it’s okay to ask for a little help!

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