I am a mom of a beautiful rare and unknown disease warrior. Sarah is 10 years old and has been facing a disease that is unknown for two years. We are trying IVIG treatments, and if they don’t work, we are being sent to the National Institutes of Health (NIH)… Read More
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
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
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
