About Krabbe 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.
Krabbe’s Disease, (pronounced: crab-ay), also known as Globoid Cell Leukodystrophy, is an inherited disorder affecting the central and peripheral nervous systems. Progression of the disease is rapid and children typically die within the first few years of life. The only treatment currently available is an umbilical cord or bone marrow 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. A transplant would give her the missing enzyme she needed to thrive. Gina was a pioneer and considered a miracle child as she lived to the age of 15. 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 disease progressed in the peripheral nervous system and Gina lost her battle with Krabbe in 2015.
More research is needed in order to halt the disease process, and that is why Anne founded Partners for Krabbe Research (P4KR) in 2010. Anne is on a mission to raise money for research and to spread awareness of the disease that took the lives of two of her three children. Her hope in raising funds and awareness is that children born with this disease will have a treatment that allows them to live the quality of life they are robbed of from progression of Krabbe Disease.