Dr Lars Schlotawa, Dr Rebecca Ahrens‐Nicklas and Dr Laura Adang, as well as MSD parent and disease advocate Alan Finglas, discuss two recent studies on Multiple Sulfatase Deficiency. Alan shares his insights on disease advocacy and what work like this means to him and his family.

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Laura A. Adang et al.

https://doi.org/10.1002/jimd.12298

A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

Lars Schlotawa et al.

https://doi.org/10.1002/jimd.12282

View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life

Alan Finglas

https://doi.org/10.1002/jimd.12305