Our Isla girl was diagnosed with Cystinosis in February 2022. Leading up to the diagnosis was a long waiting season with several rounds of labs, x-rays, ultrasounds, specialists’ visits–one of the most difficult times in our lives. Isla was a champ with each blood draw and tests she had to have. After genetic testing came back confirming cystinosis, we did a deep dive into learning about this rare disease.  It was overwhelming to say the least. We were quickly put into contact with families with cystinosis who were so helpful, understanding, knowledgeable, and provided comfort. Two weeks later, Isla had a G-tube placed and we were learning all the tips and tricks of all her medications. We made changes to adjust to our new normal. 

Now, it has been over a year since diagnosis. Isla continues to show us how brave and strong she is and full of sass. She loves dance class, swimming, painting, and playing with her brother. We were able to go to our first CRF Day of Hope conference this year, and meeting families in person was a great experience for our whole family. We were blown away by the resilience and impact that this “small but mighty” group of people has demonstrated.  We look forward to giving back to this community that has been so supportive of us.
Ashley and Duncan McAllister