Best Friends, Rare Disease: Emma D. Recognized in D.C.
WASHINGTON, D.C. — Nine-year-old Emma D. of Fishers, Indiana, received national recognition for her courage last week at the American Kidney Fund’s annual Hope Affair Gala.
Emma was honored for inspiring the kidney and rare disease communities while living with cystinosis, a progressive genetic disease that causes harmful crystal buildup in the body’s organs.
Emma’s daily life involves a complex regimen of medication and G-tube care. The young girl turned what could have been an embarrassing moment into one of empowerment when her classmates noticed the odor from her medicines and her feeding tube button.
Instead of hiding, Emma chose to explain her condition openly, a moment of honesty that her classmates embraced and praised as brave.
Emma, who loves making TikToks and being on stage, was thrilled to attend the D.C. gala, but she didn’t go alone. She was accompanied by her best friend, also named Emma, who lives in California and shares the same rare condition.
A Bond Formed by Cystinosis
The two girls met at a cystinosis conference and quickly bonded over their shared name, blonde hair, and their ultra-rare disease.
The California Emma emphasized how crucial their friendship is: “Emma is my friend I met from cystinosis conference… She’s kind of the first person that I can talk to a lot.”
The disease, which affects only an estimated 2,000 people in the U.S., is caused by a broken cell transporter that prevents the amino acid cysteine from exiting cells, causing damaging crystals to form.
The support the girls give each other is vital to their quality of life. The Fishers Emma said her friend is “basically my cheerleader,” while the other Emma noted that having the friendship with someone who has the same condition means “she can be herself.”
While cystinosis requires lifelong, complex medical management, the two friends demonstrate the possibility of living fulfilling lives while facing the challenges of a rare disease.
About Cystinosis
Cystinosis is a rare, progressive genetic disease caused by a buildup of the amino acid cystine, which forms crystals that damage organs throughout the body. It is estimated to affect only about 2,000 people in the U.S. and ~3,000 worldwide. Cystine-depleting therapies (CDTs) are the backbone of treatment, helping slow disease progression by removing cystine from cells. Cystinosis can eventually impact muscles, bones, eyes, swallowing, breathing, and nearly every system. Without treatment, cystinosis can lead to kidney failure and transplant; with therapy, children can live longer, fuller lives — but it requires lifelong, complex medical management.
