When Terry Pirovolakis approached us to tell us about his son’s disease and the fundraising campaign he started for the treatment that is going to cost $3 million, we knew we wanted to help.
Terry’s son Michael is the only child in Canada who has this ultra-rare
condition and one of 61 people known in the world who has it. They noticed something was wrong when he wasn’t reaching the milestones he was supposed to reach and when they visited the pediatrician they were told he had something called “low muscle tone”.
Michael is only 18 months old now and if not treated, in less than two years, he will be affected by spasticity and neurological delays and conditions that will leave him in a vegetative-like state by his teenage years.
What is SPG50 disease?
SPG50, also known as “spastic paraplegia type 50” is a rare hereditary disease that is caused by a missing protein in the AP4M1 gene of the brain. The disease has a history of five years which is explained as the tools to make the diagnosis had not been available before and now it is believed that we’ll see more cases.
This genetic disorder has various symptoms such as small head size, absent speech, global developmental delay, seizures, and progressive motor symptoms. And if not treated, it results in loss of mobility and deterioration in brain function that will lead to serious intellectual disability.
How can SPG50 be treated?
An experimental gene therapy technique has been applied in some recent cases around the world and successfully stopped the progression of SPG50 and reversed some of the damage.
Gene therapy and researchers who Terry got in touch with said they could try to cure his son with this experimental therapy, but it would cost $3 million. Along with the experimental treatment Michael also needs daily physical and occupational therapies but all of these won’t be covered by the government.
The fact that the therapy is experimental, and the condition is very rare, the government is not able to fund it and there are fewer researchers in Canada that are looking for a cure. So, their only option is to look for the cure outside of the country that adds up to the financial resources they need.