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Archives for: April 29th, 2022

Audrey’s Story in Honor of Undiagnosed Day

Written by Julie Ostroff on April 25, 2022
Two young boys playing outside leaning on a rock

I am a parent of three children. Our two sons are medically complex with an unnamed syndrome. Through our parenting journey, we have faced epilepsy, autism, ADHD, global developmental delays, factor XI deficiency, hypoglycemia due to a suspected congenital disorder of glycosylation (CDG), severe reflux, dysphagia, rare surgical complications, as… Read More

Zane’s Diagnostic Odyssey: His Mother’s Story in Honor of Undiagnosed Day

Written by Julie Ostroff on April 19, 2022
Lisa in a Running For Rare tank top with her son Zane who is wearing a blue shirt

While in uterus, Zane had an abnormally large bladder that did not drain properly; however, no diagnosis was given at that time. The doctors monitored Zane closely starting around 20 weeks. He was suspected of having megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) in December of 2012 at six days old…. Read More

Ray Stevens is Taking Rare Disease Awareness to New Heights

Written by Valaree DonFrancesco on April 7, 2021

In 2001, Ray was inspired by a family he met whose daughter was diagnosed with phenylketonuria (PKU). He translated his academic knowledge into clinical treatments and was able to help create two new medicines for this devastating rare disease. Then in 2007, his daughter, who was four years old at… Read More