„There is a lot of happiness to be found on this journey, but it doesn’t compare to what could/should have been“ In this interview, Anna and Paolo talk about their…
„Finding your own way“ In this interview, pediatrician Nellie from Germany talks about the long journey to her daughter Linn’s diagnosis and her search for a path for her and…
„You can do so much more than you think“ Anna from Germany talks with love about her family’s journey, her son Ole, and her sick daughter Nele. She tells of…
On May 2, 2024, we went live at www.PCH2cure.org – the new knowledge and exchange platform for pontocerebellar hypoplasia type 2. We hope all visitors to this website gain exciting…
In July 2024, 28 PCH children and their families will set off on Cruise4Life, a one-of-a-kind research cruise. Lots of doctors and researchers from the PCH2cure project will spend a…
“He Was Blessed With Many Years” Anke Roesch from Germany takes us on her family’s journey with a PCH2 diagnosis. She talks about the years with her son Sebastian -…
In their 1995 study “The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees”, Barth et al. collected data from 10 unrelated family pedigrees.
