Rare Patient Stories

Patient stories are the story of RareKC. Read experiences from other patients and families along their RARE journeys.

There are over 250,000 people affected by Rare Disease in Kansas City. Over half of them are children. We asked families to answer six questions. You will find many similarities, yet many differences. We are so thankful to those families that have been willing to share their story as well as their hopes and dreams for their rare loved ones.

Aiyana CDKL5

The Biyala Family

Aiyana has CDKL5, it's a rare genetic disorder that causes seizures that are very difficult […]
Ainsley - PKU

The Bridges Family

Our daughter, Ainsley, has phenylketonuria (PKU), which is a rare, inherited metabolic disorder that makes […]
Anneliese - Blounts Syndrome

The Urbano Family

At 18 months old Anneliese was diagnosed with a rare bone condition called Blount’s Disease […]
AJ - 5q14.3 Chromosome Deletion Syndrome

The Zahner Family

AJ is Andrew James Zahner, AJ, is a beautiful, happy, smiling 3 and a half […]

The Graczyk Family

In 2017 Marissa (age 13) and Josiah (age 7) Graczyk were diagnosed with Friedreich’s Ataxia […]
Mira - GNAO1 Mutation

The Crump Family

Mira was diagnosed with a rare mutation in the GNAO1 gene on February 15, 2017, […]
Allie - Turners Syndrome

The Ranallo Family

Allie was diagnosed at the age of 8 ½ with Turner syndrome. A rare genetic […]
Florence - Ohtahara Syndrome

The Tetuan Family

Florence Gray Tetuan was born February 20, 2014 and our journey started on March 1, […]
Theo - Rubinstein Taybi

The Ridenour Family

Theo is an amazing child who happens to have a rare syndrome called Rubinstein Taybi. […]

Share your rare story

RareKC invites you to share your story. Join other patients and families who have contributed their personal accounts of living with a rare disease. Together we are stronger than RARE!