Being a parent is hard work.... and it is even harder when you have an extra special little one and you have to make decisions that you'd never have thought you'd have to make for your child. For example, a good friend whose little one has the same disorder as Ethan is facing the decision about when and where to do the little one's cochlear implant surgery. This is a decision that we will most likely face someday too... We are struggling with the decision about what to do about an experimental medicine that might help Ethan, but it hasn't ever been studied in PBD kids before.... so they don't know if it will really help or not... not sure what the side effects could be (although the medicine itself typically has few minor side effects) in kids with PBD..... The medicine is so expensive that the nurse at our genetics office couldn't get the distributer to even tell her how much it cost.... So we have so much to think about, pray about, and decide. Last week, ...
Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our family's journey.