Terry and Georgia Pirovolakis are trying to save their son’s life, trying to find a cure that doesn’t exist. Michael is 18 months old and his doctors say he is the only child in Canada diagnosed with SPG50, a rare genetic disorder that threatens the toddler’s ability to speak, walk or even breathe, all in a few short years. SPG50 is a progressive brain disorder that begins in early childhood, it is caused by just one missing protein. Because Michael doesn’t have this protein, as degeneration rapidly progresses he will lose the ability to use his feet, hands and slowly his brain will depress until there is nothing left. They call it a progressive cerebral palsy.
The energetic toddler can’t walk despite an obvious desire to move around. He smiles and laughs and babbles, but hasn’t said his first word. He’s healthy, until he gets a fever and has a seizure, which sometimes takes hours for hospital staff to address. There are only 57 known cases in the world, including Michael, according to pediatric neurologists at Boston Children’s Hospital. The disorder is so rare there is little financial incentive for pharmaceutical companies or governments to fund research to find a treatment. That is where the family is struggling now; but there is hope.
Dr. Berge Minassian is leading a team at UT Southwestern Medical Centre in Dallas, Texas, one of a handful of research facilities in the world creating customized treatments for rare genetic disorders. They have offered to allow Michael to be part of an experimental trial in the U.S. But there is one major barrier to this first of its kind treatment: the cost. Because there is no financial incentive there is no funding available and so the family needs to raise $3 million dollars. In that effort they have created a GoFundMe campaign which has already raised more than 10% in the 2 months it has existed.
It takes a village to care for the sick, and it may not work, but it also may allow for the treatment of many similar genetic issues and the other cases aside from Michael. At the very least they could use the prayers and the sharing of their call for aid.
Photo from Terry Pirovolakis via CureSPG50 GoFundMe