Written by Lisa Sencen on May 20, 2019
Houston native Deborah Skolaski is the loving grandmother of Cori, a seven year-old living with metachromatic leukodystrophy. MLD is a genetic disorder that affects the nerves, muscles and other organs, as well as behavior. Deborah felt helpless as she observed the struggles that her son, daughter-in-law and Cori… Read More
Written by Lisa Sencen on August 31, 2017
Hurricane Harvey has left thousands rid of their belongings and forced out of their homes. For individuals living with a rare disease, the impact of such natural disasters can be even more detrimental. Together, NORD staff worked with our
Texas Rare Action Network State Ambassador, Debbie Skolaski to create…
Read MoreWritten by Jennifer Huron on December 23, 2016
Research study is open to participants worldwide to advance understanding and treatments for rare disease causing non-syndromic intellectual disability ranging from mild to severe with attention deficits, impulsivity, and/or mood disorders. Seventy to eighty percent of children with SYNGAP1 also have some type of epilepsy and the SYNGAP1 gene has… Read More
