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.

Josie recently finished second grade and is very excited about third grade. She is excelling in school and keeps busy with gymnastics and swimming. She has many close “besties” and is living her best 8-year-old life. She has such a loving personality and keeps us all laughing. 

Everyone is extremely excited and encouraged about the stem cell gene therapy clinical trial. We are hopeful for wonderful outcomes for her younger cystinosis friends who will participate in this phase of the trial. We know her time will come. 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