About Krabbe's Disease
Krabbe’s Disease, also known as Globoid Cell Leukodystrophy, is an inherited disorder affecting the central and peripheral nervous systems. Progression of the disorder is rapid and death occurs. Children typically die within the first few years of life. The only treatment currently available is a radical transplant intervention.
After losing her son, Nick, at the age of a year old in 1987, Anne Rugari wanted her newborn baby Gina (born in 1999) tested immediately for Krabbe in the hope of saving her life with a transplant that would give her the missing enzyme she needed to thrive. Gina was considered a miracle child as she lived to the age of 15 and passed away in 2015. During her lifetime, she couldn’t walk and used a computer to talk. However, she was age appropriate cognitively, which allowed her to attend school, be very active in her community, enjoy swimming, participate in Girl Scouts, and travel all over the country. Unfortunately, the life saving treatment only lasted until Gina was approximately 12 years old, and then the disease starting progressing again. More research is needed in order to halt the disease process, and that is why Anne started Partners for Krabbe Research.
Anne is on a mission to spread awareness of the disease that took the lives of two of her three children.