Monday was Rare Disease Day. We celebrated Rare Disease Day with our first visit to a pediatric epileptologist (epilepsy specialist) at the University of Iowa, Dr. Ciliberto. Jeff and I liked the doctor and his team. He spent a lot of time with us and although he didn't have a magic solution, we were glad that we at least have a plan. Ethan is currently taking Keppra, Phenobarbital, and Topamax for his seizures and we have rectal Diazepam that we use as a rescue medication when needed. February was a difficult month and we have needed to use the Diazepam on multiple occasions. Due to a cancellation, Ethan was able to have his sleep study last week, which confirmed that he has mild sleep apnea, which could be contributing to the increase of seizures, especially while he is sleeping. While we don't enjoy the risks associated with surgery, we are working towards being able to schedule the removal of Ethan's tonsils and adenoids. The hope is that their removal may decrease...
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.