The 9th International Meeting on Neuroacanthocytosis Syndromes was held March 23-25, 2018 in Dresden, Germany. The conference focused on chorea-acanthocytosis (ChAc) as one of the "core" diseases of the neuroacanthocytosis (NA) syndromes.
We were introduced to the Volger family from Leipsig at the Dresden meeting in March. Claudia Volger, mother of Sidney and Lieven, accompanied a slide show with the histories of her two sons’ development of NA symptoms and their subsequent care under Andreas Hermann in Dresden.
The meeting in Dresden began with an afternoon devoted to issues of patients and caregivers. The first presentation was from Claudia Volger who introduced us to the stories of Sidney and Lieven, her sons who are under the care of Andreas Hermann and his group.
NA researchers Andreas Hermann and Kevin Peikert write to let us know they have recently clearly demonstrated infertility in two young male ChAc patients. Additionally, they've confirmed previous findings of male infertility in their ChAc Vps13a KO mouse model. These results provide evidence that ChAc leads to male infertility, but to confirm causality, the research team urgently needs more male ChAc patients who would be willing to undergo a sperm analysis.
Rare Disease Day 2018 (the last day in February) was celebrated in over 90 countries and regions and focused on research. Not only do patients need researchers to discover diseases and develop treatments/cures but also researchers need patients to participate in trials to ensure research is meaningful.
Amongst the fundraising activities which took place were a Coffee Morning, a Craft Fayre and a school fundraiser by Cooper Williford during Rare Disease Day for McLeod's Syndrome in memory of his great uncle Eric.