Smith-Kingsmore Syndrome Foundation
Smith-Kingsmore syndrome (SKS) is a rare condition caused by mutations in the MTOR gene found at chromosome location 1p36. The most common findings in Smith-Kingsmore syndrome are intellectual disability, developmental delay, large brain size (megalencephaly) and seizures.
Kristen Groseclose’s 18-year-old son, Jack, is profoundly disabled by SKS, requiring assistance with all of his basic needs. As a result, she was motivated to found and lead SKSF in order to create meaning from the challenges her family has experienced throughout Jack’s life and to prevent similar difficulties for others.
As part of the Rare As One Network, SKSF aims to build their patient-led research network and raise awareness with more frontline medical professionals in order to increase the rate of diagnosis, which could help apply the research into treatments. Earlier diagnosis may improve outcomes for patients by starting interventions before issues become apparent, potentially saving the lives of some patients with SKS who suffer from seizures, which cannot be managed.