Stephanie

,
In the spring of 2020, after a hike with her husband and kids, Stephanie’s legs swelled unfathomably. She took a video of herself pressing her fingers into her legs, showing how her fingers would sink into the skin.
Rare Life: George

George

,
George and his family love history. They enjoy road trips to Williamsburg, Amish country, Civil War and Revolutionary War sites, and any other spot of historical interest. Along with George, their four kids benefit from their mom’s passion as a U.S. history teacher, making stories of the past relevant to life today. George’s personal history includes an ultra-rare disorder diagnosis of cerebrotendinous xanthomatosis, or CTX. But like so many rare disorder diagnosis stories, his began as a mystery.
Sharron and Shonte'

Sharron & Shonté

,
"If you need something and I have it, it’s yours.” These are the words of Sharron’s sister Shonté when Sharron’s rare kidney disease, FSGS, progressed to end-stage kidney disease. Watch the story of two sisters who each gave something to the other, helping both live fully.

Sean

,
Sean talks about his family and their journey with Alagille syndrome. Alagille syndrome, or ALGS, is a rare genetic disorder that can affect the liver, heart, skeleton, eyes and kidneys. For Sean's family, ALGS impacts each affected child differently. For more information and support, contact the Alagille Syndrome Alliance at alagille.org.
Jamela, living with HCU

Jamela

,
Diagnosed at birth with homocystinuria, Jamela reflects on what it was like growing up with this rare metabolic condition, and how her family continues to be a source of strength.

Benji

,
Benji, nine years old, loves wrestling with his father and playing with his best friends. He is quite fond of elevators – both watching them and riding in them. Benji is a happy kid. He is also a rare kid, and lives with NGLY1 deficiency, a complex neurological syndrome resulting from a shortage of the enzyme N-glycanase 1. Read about Benji’s ultrarare journey,

Stuart

,
Ten years after being diagnosed with IgA nephropathy, a rare kidney disease, Stuart’s kidney function had depleted significantly. Today, after a lifesaving kidney donation from his wife, Stuart gives back to the kidney community through advocacy

Chris

,
Chris was just a teenager when he was diagnosed with a rare genetic condition called cystinuria, which causes cystine kidney stones that often require surgery to remove.

Tiffany

,
Managing a diagnosis of FSGS that came during COVID-19

Thomas

,
Thomas enjoys many things typical of twelve-year-old kids: sports, time with his friends, and playing video games. But Thomas’ journey has not always followed the typical path for kids his age.

Gisela

,
“How do you know you have IgA nephropathy?” asked Gisela’s nephrologist skeptically. Gisela was 30 years old, talking to a nephrologist for the first time in a decade. Read and watch her story.

Delila

,
Valarie describes her family's journey with baby Delila who has Alagille syndrome.

Kevin

,
A tale of racial bias that delayed a diagnosis

Matthew

,
Author, composer and life-long learner, Matthew lives with peroxisome biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD).

Christopher

,
Hear from Christopher as he describes his journey with focal segmental glomerulosclerosis (FSGS), from diagnosis and day-to-day with this rare kidney disease, to his work with NephCure Kidney International.

Lindsey

,
At the 2019 ERA-EDTA Congress in Budapest, the company hosted a panel discussion led by people living with rare glomerular disease. Lindsay, a 17-year-old scholar, athlete and musician, shared about her journey with focal segmental glomerulosclerosis (FSGS).

Lillie

,
Lillie – living with IgA nephropathy, and her mom Carrie, talk about life with rare kidney disease.

Paul

,
Paul, living with cystinuria, talks about the critical role of water – both in his profession and for managing his rare condition.

Gayle

,
Building an online community for people impacted by a rare genetic condition