Josephine was around eight months of age when she began, what we realize now, to experience common early cystinosis symptoms – failure to thrive, dry heaving, and extreme thirst. With quick action from her doctors, at 10 months, our worst fears were confirmed. We were incredibly lucky to have a nephrologist familiar with cystinosis spot her symptoms early, initially only spending four nights in the hospital.

Cystinosis causes an abnormal accumulation of the amino acid cystine in the body’s cells that can lead to widespread tissue and organ damage. The kidneys are typically affected first – leading to Fanconi Syndrome – a condition that causes a severe electrolyte imbalance because the body is unable to absorb essential nutrients. As you can imagine, this can have adverse effects on growth and development, therefore her electrolytes must be frequently monitored and supplemented.

June 2022: Josie turned five this year in February and finished her Pre-Kindergarten adventure. She is very excited about heading to full-time kindergarten in the fall. She spends her days like any other kid-running around with cousins, swimming, music class, and fighting with her brother Brendan; she just takes small breaks in between for medicine and blended foods. She has become comfortable talking about cystinosis to her peers and is becoming her own advocate when it comes to keeping her water filled and taking it easy in hot weather. 

Everyone is extremely excited and encouraged about the stem cell gene therapy clinical trial. We hope to will enroll Josie in the coming years for the treatment. We have no doubt that she will continue to thrive and one day be cured! Thank you for supporting Josie and cystinosis research!

The Kanupke Family
Katie, Tom, Brendan and Josie