News
Logan’s Story: From his Proud Mother
By: Julie Hill Rare is proud, rare is strong, and this is our story so far… After many years of IVF, we had our first-born Isaac, who was born 13 weeks premature. But still I longed for another baby. We lost a baby in between and around the due date of this...
Olivia’s Story: A Journey of 35 Years
By: Maree Grover, Australia Our daughter Olivia is the fifth in our family of five children and was born in June 1985. She was a smaller baby than her siblings and I had been very unwell for all of that pregnancy. Olivia was a breastfed baby until about 8 months...
Brandon’s Story: Rare is Strong
The following is a story about the strength of Brandon from Pennsylvania, USA in his mother’s words: Brandon is our 17-year-old WSS Warrior and is the true definition of “Rare is STRONG.” We received Brandon's WSS diagnosis in 2017, so a little later...
First Grant Awarded
Our first grant, in the amount of $200,000 has been awarded to Dr. Hans Bjornsson of the University of Iceland. Dr. Bjornsson’s project, Creation of a Specialized WSS Mouse Model to Establish Postnatal Malleability of the Neurological Phenotype in WSS, will take place over the next two years.
2019 Research Paper out of Canada
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. npj Genomic Medicine volume 4, Article number: 9 (2019)