SPG50 Ultrarare disease
Our Heroes
Terry Pirovol

The Hunt for a Solution to SPG50

Our international journey to save our son Michael from an ultra rare genetic brain disease

As a parent, when your child gets sick, your inner instinct is do everything possible to make them feel better. What if you find out, however, that whatever is making your child sick, there is no known treatment or cure? That is the heart-wrenching reality my wife, Georgia, and I are faced with since our young son Michael was diagnosed with a rare genetic brain disease shortly after he was born. 

Now, we are racing against time and doing everything humanly possible to find a cure…even if it means making one from scratch. 

When Michael was born just a week before Christmas in 2017, he appeared to be a healthy and happy little boy. Unfortunately like many genetic diseases, he showed no signs that anything was initially wrong. But sadly, there was. 

SPG50 Rare DiseaseWithin a few months we began to notice that he was missing certain milestones in his development. Michael wasn’t really reaching for things. He wasn’t able to lift his head on his own and his head wasn’t growing. We immediately began a series of tests at various hospitals to try to determine what was causing Michael’s developmental issues. 

On April 2, 2019 our lives changed forever. It was on this terrible day that Michael was diagnosed with an ultra-rare neurodegenerative disease called SPG50 – or Spastic Paraplegia Type 50 – a genetic defect in which the body fails to produce a certain protein essential for development. Doctors at The Hospital for Sick Children in Toronto explained to us that Michael was the only known person in Canada to have this disease – and among 60 worldwide! 

We learned that SPG50 affects the motor neurons and causes axonal swelling, that Michael would initially lose muscle tone in his feet, but paralysis would slowly work its way up his body until he it left him  completely paralyzed and with little brain function.

In that moment when doctors relayed the diagnosis and prognosis the life we had hoped for our wonderful little boy was gone. Our hearts were torn apart - we were left broken and beyond consolation. Georgia and I went home that evening trying to comprehend what the doctors told us and to figure out a way forward. We frantically went online and found a family in Boston whose young daughter was suffering from a similar neurodegenerative disease like SPG50, and how they were looking to gene therapy for a cure. 

It was at that point that I promised Michael and my wife that I would do anything, go anywhere and give SPG50 Rare Diseaseup everything to save him. 

Within weeks I read hundreds of thousands of articles, spoke with hundreds of doctors from around the world and made a game plan of what I needed to do. One month after Michael was diagnosed, I flew to Washington DC and crashed a conference intended for gene therapy researchers, and over the course of two days met with several leading experts in the field as well as experts from the US National Institutes of Health and US Food and Drug Administration.             

The following week I made an overseas trip to London, UK and met with experts there before finally pleading with Dr. Steven Gray of UT Southwestern Medical Center to create a gene therapy treatment to help replace Michael’s missing gene – and this is how our journey to find a cure began. (You can learn more about our story here.)

We are so grateful to all the doctors, scientists, researchers, companies, communities, neighbors, and complete strangers who have helped fund our research and give us hope.

The journey so far has been the hardest thing we have ever had to do and it won’t get any easier, but with amazing companies and the people that work for them like Charles River we know the impossible is achievable:  To be able to give Michael, and the other children inflicted by this terrible disease around the world a better life.

Together We Can Cure SPG50!