Ethan: Age12

Diagnosis: Atypical Hemolytic Uremic Syndrome (aHUS)

USA

Ethan-Atypical Hemolytic Uremic Syndrome (aHUS)

“Ethan was clinically diagnosed as having Atypical Hemolytic Uremic Syndrome (aHUS).  A genetic, chronic, ultra-rare disease that can progressively damage vital organs, potentially leading to stroke, heart attack, kidney failure, and death….

We are coming up on the 3 year mark of his diagnosis. It feels like a lifetime and a short moment at the same time. We’ve put on over 14,000 miles on the car for trips to the hospital, infusions and rushes to the ER. He’s had over 150 IVs, takes 9 pills a day, is immune suppressed, has dealt with prednisone chubby cheeks, over 3 months of missed school, goes to the hospital every other week for IV infusion of Soliris, numerous worried phone calls in the middle of the night, and countless other issues that seem so normal to us now. They say it’s a new normal, but to me it’s just the path our life took…”  -Anne

“Ethan’s mom has done an amazing post about Ethan, the road to a diagnosis and how they treat aHUS that I am going to have you go to her page to read the full story. Here is the link http://sassyhaven.org/2016/01/14/our-jump-in-to-rare-disease/ and a few photos from their fun family shoot!”  -Season

Atypical Hemolytic Uremic Syndrome (aHUS)Atypical Hemolytic Uremic Syndrome (aHUS)Atypical Hemolytic Uremic Syndrome (aHUS)Atypical Hemolytic Uremic Syndrome (aHUS)

About the author

Gina

Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

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