Young Daughter with Cystinosis Inspires Mom

Recently, a website called The Mighty invited its readers to write a letter to the rare disease or mental disorder that affected them or a member of their family.

One mother chose to write a letter to cystinosis, the condition her two-year-old daughter battles.

Elsie was diagnosed with the rare metabolic disorder before her second birthday and is on a treatment regimen to lessen the damage that can occur from a build-up of the amino acid cystine. It accumulates in the kidneys, liver, and in other organs. Without treatment, most patients reach end stage renal failure by the age of nine.


Amanda Buck is sharing her daughter Elsie’s journey through her blog, Elsinosis: Living with Cystinosis.

She chooses to remain upbeat and hopeful that the medications Elsie takes will help her live a long and healthy life. But like many young children, she’s a picky eater, so Amanda and her husband have had their share of challenges in getting proper nutrition into Elsie, however, their efforts are paying off as she continues to grow and gain weight.

Soon after Elsie’s diagnosis, her mom found all the facts about Cystinosis and its treatment overwhelming. What she really needed to know was if her little girl was going to be okay. Could she still live a normal life? The answer is absolutely! Source: elinosis.files.wordpress









Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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