Every 30 minutes, a child is born who will develop mitochondrial disease by 10 years old, according to the United Mitochondrial Disease Foundation. However, many people have never heard of mitochondrial disease or learned about the devastating impact it can have on the life of a child and that child’s family.
Dino M. Scanio, CO, LO, director of the nonprofit FOOT Foundation, has been doing all he can to spread awareness about mitochondrial disease since his 3-year-old son, Gianluca, was diagnosed 2 years ago.
“I can definitely say I stopped sleeping 2 years ago,” Scanio told O&P Business News. “His is the myopathy form [of the disease] so it is a progressive, no-cure type of disease. Most kids don’t live beyond their teenage years. My life went from normal to upside down within a couple of years.”
Scanio wanted to share his family’s story as a way to contribute to Mitochondrial Disease Awareness Week, which is from Sept. 14-20. While there are no preventative measures and no cure, Scanio said awareness is important because he hopes it will lead to research that can save lives in the future.
“As an orthotist, a parent, a husband, a father, I see kids come in all day long and we try to do our best to help them and we try to improve their quality of life, and it is a completely different situation when it is your kid and there is nothing you can do to stop the end result. So the next best thing is just to continue to do good, and help other people, even though I cannot help my own son,” Scanio said.
Mitochondrial disease is difficult to grasp, and it affects everyone differently, he said. As explained by the United Mitochondrial Disease Foundation (UMDF), “Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell.” When mitochondria fail, they can cause damage to cells in a number of organs including the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
The UMDF notes, “symptoms may include loss of motor control, muscle weakness and pain, gastrointestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.”
A typical day for the Scanio family is full of responsibilities. Gianluca is 100% feeding tube dependent and also requires a nebulizer treatment. He also requires oxygen frequently. He visits the hospital each month for infusions that last for about 3 days, and has a port at home for additional IV fluids.
“He has already had two significant [hospital] admissions for collapsed lungs, respiratory problems. He wears leg braces, he wears AFOs, he uses a wheelchair for long distances,” Scanio said. “We are working with him now on trying to wear a mask when he is in large crowds. So it is not easy anymore to go to a birthday party or an anniversary or to go out in public because [we] do worry about all the secondary illnesses that could potentially leave him permanently handicapped, if not kill him because of mitochondrial disease.”
Scanio’s hopes for awareness are a bit different than parents of children with well-known, well-funded diseases. Currently there is not much research on the causes or potential drugs or therapies. Scanio’s real goal is to inspire people – or even just one person – to start the research that could someday lead to a cure.
“Just maybe there is that one person who, may it be either a kid or an adult, somebody that says, ‘I want to do research on this disease. I want to figure out how we can help these children.’ And then maybe someday in the future there will be some kind of effective treatment to save our kids with this disease,” he said. “I think that is my greatest hope because right now there is no cure and kids are dying from this disease. Unfortunately my son struggles for his life … I hope that the awareness will just maybe reach one person who will be interested in wanting to do research.”
He added, “[There could] be somebody out there now who is interested in a research project and they find something that maybe prolongs life, [offers] better quality of life, saves life. Any of those things is something worth hoping for.”
For more information on mitochondrial disease, visit UMDF at www.umdf.org or Mito Action at www.mitoaction.org. For more information on the FOOT Foundation, visit www.footfoundation.org. — by Amanda Alexander