I ride for my baby girl, Izzy!
Izzy is, first and foremost, a loving kid who wants to play with her friends and family, be outside, read books, and love on her pups. We are so grateful that Children's Hospital is the backbone to Izzy's care, allowing our family to enjoy those things that matter to us the most.
Izzy was diagnosed with gene variant PPP2R5D in 2022. Izzy is one of 300 individuals known to have Jordan's Syndrome worldwide, although there may be many more individuals that are undiagnosed.
Some common traits of Jordan’s Syndrome that we have seen in Izzy include:
· Low muscle tone – Izzy gets tuckered out quickly after physical exertion. She is getting stronger everyday! Izzy began walking independently on her third birthday while at Ski Cooper, which is on the Copper Loop bike course!
· Delayed speech and language – Izzy makes many sounds right now; and has picked up, "Hi," "Bye," and "No." She will likely use communication devices to aid her in the future. There is a wide range of language acquisition for kids with Jordan’s Syndrome. In general, Izzy will understand and comprehend language better than she will be able to verbally communicate.
· Feeding and eating - Izzy is an independent girl and wants to feed herself, but has issues with her fine motor skills. It makes for messy mealtimes right now and may impact her ability to self-feed, clothe, and write in the future.
We are grateful for all of the support from Children's Hospital. Dr. Enriquez with Neurology helped us to find the diagnosis so early, which has provided us with better information on what to expect and how to best support Izzy. Dr. Hoffman (retired, so sad!) and Dr. Playmaker with Developmental Pediatrics have continually reassured us that we are doing the very best for Izzy and our family, while providing levity during our appointments and showering our family in love. Dr. Mayer with Rehabilitation helps us find the best ways to support Izzy's physical health and development with equipment. Dr. Stille helps keep tabs on Izzy's overall well-being at the Special Care Clinic. Dr. Taylor gave Izzy's heart the "OK," on top of being a good friend of our family outside of the hospital! There are also nutritionists, audiologists, ophthalmologists, social workers, nurses, and schedulers that have wrapped us in support as we navigate this complex disorder.