Hello everyone!!! I’m Emily Angeloff, and I have Joubert Syndrome. Today I am posting this because sign language was my first mode of communication and…
Liver disease has been strongly associated with one JS gene, namely TMEM67. Congenital hepatic fibrosis is prevalent in an estimated 14% of individuals with JS according…
Respiratory abnormalities are very common in individuals with Joubert syndrome and can be a big source of worry for their families! These abnormalities include a mix…
Robby’s Story My pregnancy with Robby had been pretty problem-free aside from morning sickness. I was unaware of Joubert Syndrome or kidney issues at that time. I…
Approximately one in four people with Joubert syndrome are affected by kidney disease (Healthcare recommendations for Joubert syndrome, 2019). Kidney disease is strongly associated with several…
Health management for folks with JS can be confusing and overwhelming. It can be difficult to understand the many types of specialty care and therapies. To…
Ask Dr. Dan is a blog series featuring Dr. Dan Doherty, who since 2004 has been researching Joubert syndrome through the University of Washington Hindbrain Malformation…
Page 4 of 12