P4KR is a 501(c)3 foundation designed to increase awareness and to support research to improve the lives of those born with Krabbe’s Disease.
What this disease means to my family
After losing my son, Nick, at the age of a year old in 1987, I wanted my newborn baby Gina (born in 1999) tested immediately for Krabbe in the hope of saving her life. Gina would have to tolerate 9 days of intensive chemotherapy and receive stem cells from an unrelated umbilical cord donor 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.
Gina was the third newborn with infantile Krabbe Disease to be transplanted in the world. During her lifetime, she wasn’t able to walk independently and had to use a communication device 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 in the peripheral nervous system. The transplant was successful in that there was no decline or progression of the disease in the central nervous system (or brain). This information was discovered after Gina’s death and through the research of her brain and other tissues in her body being donated to science. These findings helped to answer many questions the scientists were asking in the labs and therefore advanced the research five years.
My oldest son, Phil, is a carrier of the disease, but his wife is not and therefore his children will not be affected by Krabbe Disease. Both parents must be carriers of the disease in order to have an affected child. There is a one in four chance with each pregnancy that the child could potentially have Krabbe. Unfortunately, two of my three children have been born with Krabbe Disease.
Since my first introduction to Krabbe, 30 years ago with the birth of my son, Nick (who suffered for seven months before being diagnosed), I have been on a quest to figure out what my role could be to help make a difference to families and children who are affected by this devastating disease. In 2012 when I formed Partners for Krabbe Research (P4KR) I chose a mission that would assist in the expansion of awareness and research efforts to further improve the lives of those born with Krabbe Disease.
This year is particularly significant to me as it is the 100-year anniversary of Krabbe being discovered by Knud Krabbe in 1906. It would also be my son, Nick’s, 30th birthday, and Gina would be celebrating her “sweet sixteenth” year of life.
Thank you for being a part of my family’s journey in helping to make my quest a reality. I am on a personal mission to change the outcomes of the children born with this disease. My three children, Phil, Nick and Gina have given me the gifts I need to make Partners For Krabbe Research a foundation that can facilitate the change that needs to happen in Krabbe Disease.
- Written by Anne Rugari, April 2016