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Undiagnosed Children's Day: a puzzling rare disease journey

Updated: Apr 26

For Undiagnosed Children's Day, Marlene Soto, founder of Helping Swans, tells us her experience of endlessly searching for a diagnosis for her son, AJ.


As someone who lives with my own array of medical conditions and disabilities, my daily

dedication is to my son's medical journey, as he battles a rare, undiagnosed disease. People

often ask me how I treat the unknown. The answer is simple: we address each symptom as it

arises, independently. Our goal isn't just a cure, but a diagnosis.



AJ as a newborn baby


Our journey with undiagnosed rare disease has been puzzling. Since birth, AJ has been thought to have a genetic syndrome, but no test could confirm it. Even after the latest whole Genome sequencing, he was found to have two variants with little evidence. This puts AJ in the undiagnosed rare disease category, where we continue to search for answers while providing him with the care he needs.


AJ in a hospital bed with his mother Marlene sitting next to him

In our relentless pursuit, we actively engage in every research opportunity available, diligently

follow up with specialists, and advocate daily across all platforms to share our story and we

even participated in Rare Disease Day at Capital Hill. Our experience is unique but there are

countless others with similar tales of uncertainty that are not stepping forward or don’t know

where to start. That's why I've stepped up to speak publicly about Undiagnosed Rare Diseases, advocating for those who can't. I refuse to lose hope, striving to offer a glimpse of possibility and answers for others in similar situations.


I started writing books about disabilities like undiagnosed rare diseases to help others

understand the challenges. But I didn't stop there. I saw how much people needed support in the undiagnosed community. That's why I started Helping Swans Co. It's a place where everyone, whether they have a diagnosis or not, can find resources and join workshops. It's all about belonging and feeling supported while building together.


 

Socials:

Instagram: @helpingswans


 

Would you be interested in writing about your experiences with rare disease? Email hello@rareyouthrevolution.com for more information

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