Josie Kanupke's Story
Josephine was around 8 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, multiple tests were ordered and she was admitted to Advocate Children’s Hospital in Oak Lawn, Illinois. 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 has since received a g-tube for medication and food administration and switched care to Lurie Children’s Hospital in Chicago. Her current team has gotten her back on the growth charts, eating well by mouth, leveled out her electrolytes and dropped her cystine level. She currently takes seven medications, multiple times a day. While it was most definitely the worst few months of our lives, she is now an extremely happy little girl. She is talking, walking and chasing her big brother, Brendan. We have no doubt that she will continue to thrive and one day be cured.
The Kanupke Family