#DelayedDiagnosis of alpha-mannosidosis is common especially in mild cases, highlighting the need for early diagnosis to facilitate timely treatment bit.ly/4oTXxpC #GIMO #AlphaMannosidosis #LysosomalStorageDisorder #DiseaseSeverity #RareDisease #EnzymeReplacementTherapy

Researchers have linked rare SPNS1 gene mutations to a newly identified multi‑organ disease, publishing the findings in the Journal of Clinical Investigation. https://getnews.me/scientists-link-spns1-mutations-to-rare-multi-organ-disease/ #spns1 #lysosomalstoragedisorder #precisionmedicine

My 2yo son has a rare genetic disorder called #nephropathicCystinosis this is considered a #lysosomalstoragedisorder meaning his cells don’t properly dispose of a protein called cystine and when that builds up it creates crystals which cause organ damage. #caretaker #raredisease #momlife #cystinosis