What Being Undiagnosed Means in the Rare Community

April 24, 2024

April 29 is Undiagnosed Disease Day, and Global Genes reached out to the Undiagnosed Disease Network Foundation (UDNF) to share how they help those seeking a diagnosis. Gerald Sweeney serves on the board of directors for the Undiagnosed Diseases Network Foundation. He has been involved in the rare disease community since his daughter was diagnosed with cystic fibrosis in 1984.

I dream that I am sitting in the sand on the shore by myself watching passengers embark on a ship at a nearby dock. The sky is cobalt blue, and the sun is so bright it reflects off the water like millions of bobbing crystals. The people boarding are happy, laughing, even jubilant. There is a small band playing at the port side gang plank, but I can’t hear the song. I sit in silence except for the methodical pounding of the waves hitting the beach. I want to be on the ship. The passengers have taken their places on the deck as the ship moves free. They wave as their journey begins. They are waiving at me, but I cannot wave back. I follow the ship’s movement into the sun. I imagine the celebrations on board. I am alone. I am left behind. It’s 2:57 am.

I’m awake and my head races through the possibilities like a supercomputer. What’s wrong with me, my child, my partner? I am a patient. I am a parent. I am a spouse. I am a child. I am all of us. I suspect that there is an explanation and maybe a cure for our undiagnosed diseases, but I fear that it must be so complex and evasive that no one will figure it out in time. I can’t fix it – I can’t make it all better for my child. She looks at me and my heart breaks. I don’t know what’s coming and I can’t stop it. I have failed.

The demand on our family’s resources has stressed our financial and emotional limits. We share a pain that does not bring us closer. I have illogical guilt for not understanding conditions that are beyond the knowledge of the medical community. I resent research conferences that take place once a year when this is my priority 365 day a year. I avoid doctors who do not listen and respond dismissively to questions that are perceived as challenging. Can’t they see that I am an advocate, and not a critic. Long ago I gave up on the senseless task of attributing a divine reason for my misfortune and have accepted this as my life. But now there is renewed hope that no patient or family will have to traverse the unknown alone.

Led by and for patients and their families, the Undiagnosed Diseases Network Foundation (UDNF) is poised to become the central resource for the undiagnosed community. From when a patient first experiences unexplained symptoms to their ten-year anniversary of effective treatment, it is UDNF’s goal to provide the resources, community, and research they need to live their best lives.

We envision a learning healthcare system where researchers, clinicians, and patients work together to advance individual and community wellbeing.  By leveraging advancements in science, technology, and service delivery, we aim to continuously improve health quality and efficiency for undiagnosed patients. For more information, visit the UDNF website and help us see our future together.

UDNF website

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