Joshua Hellmann Foundation for Orphan Disease was established in honor of my son, Joshua, who lived an active and inspirational life for fifteen years. He passed away in October 2007 after a courageous five-year battle with Melas Syndrome, an “orphan disease”, defined medically as a rare disease that is at a result often neglected by the medical and pharmaceutical industries.
My journey of understanding began on Christmas Day 2002, when Joshua suffered the first of ten strokes. After countless hours of questioning and medical tests, we were no closer to understanding the cause or finding a solution. As a parent, I felt powerless given the lack of knowledge and information sources available. I was desperate to find the answer.
While medical professionals did their very best to diagnose the cause of Joshua’s illness, there were many frustrations which we, as a family, encountered along the way to a correct diagnosis. Eventually, we learned he was afflicted with a disease caused by defects in the genetic material of the mitochondria, the parts of the cells that generate energy for the body.
Even after diagnosis, we encountered many challenges in treating this disease. As Melas Syndrome is a multi-symptomatic neuro-degenerative disease, it became a full-time job for me to care for my son. In the end, Joshua was rendered blind, deaf and unable to speak, but his strength of character did not allow him to give up. He lived courageously and with a vision to assist other people afflicted with orphan diseases.
It is in his legacy that I founded Joshua Hellmann Foundation for Orphan Disease. I hope to turn my personal loss and profound grief into something positive for those who might share similar circumstances. Please help us continue to help others by supporting Joshua Hellmann Foundation for Orphan Disease, so that together we can make our shared vision a reality.
Christina Hellmann-Ipsaryaris, Founder and Chair