We're Mike and Devin Dwyer and on April 6th, 2022 we received the worst news of our lives. We were told that our son Jack had been diagnosed with an ultra-rare disease, SPG50. We were told that SPG50 is degenerative, both physically and mentally, and that spasticity progresses from children's legs to their hands before mental decline starts. Jack would slowly lose the functionality of his body and then his mind.
At the end of the call, we were given a glimmer of hope. A parent of another child with SPG50, Terry Pirovolakis, had received the same diagnosis and had refused to accept that there was no treatment. He had been raising funds and working for the past 4 years to develop a gene therapy for SPG50 and just recently his son Michael had received the first dose in Canada. Gene therapy is the only hope to stop, and potentially cure, this awful disease.
On August 11, we received the amazing news that the SPG50 gene therapy had been approved by the FDA for a clinical trial in the United States. Unfortunately, because SPG0 is ultra-rare, the major pharmaceutical companies are not interested in the disease because it isn't commercially viable. That means the $250,000 - $300,000 per child cost has to be raised before children can get treated.
We always wanted to be parents. We both wanted babies as soon as we got married. We didn’t expect it to take 3 years, countless medical procedures, losses, and the gift of modern science to have one. But it did. Jack is our miracle.
Jack was born in August of 2017, perfectly healthy. When he was around 6 months old, we noticed he wasn’t meeting some milestones. Devin was worried but everyone, including doctors, told us he was just fine, he might be delayed but he would develop in his own time. We started physical therapy anyway and began working with a pediatric neurologist to figure out the cause of his delays.
Jack made progress. He started pulling up and cruising, and we will never forget the day he started walking. We cried tears of joy and relief because we thought that was it. He was walking and we were done. We did it. But we weren’t done.
After many tests and hypotheses and evaluations, our pediatric neurologist referred us to The National Institute of Health.
The NIH did further genetic testing and on April 6, 2022, we were told that Jack has an extremely rare genetic disorder called SPG50. The doctors told us that SPG50 is degenerative, both physically and mentally. The doctors explained that spasticity starts in children’s legs, slowly taking away their ability to walk. The spasticity then takes away their ability to use their arms, and ultimately, their mental capacity.
Our world stopped turning at that moment. The bottom fell out from beneath us. It was pain like we’d never experienced before, to hear that for our sweet little boy. Our hearts were broken.
On our darkest day, we were also given a ray of hope. Doctors told us that a father in Canada, Terry Pirovolakis, had spent 4 years working to develop a gene therapy to treat his son who also has SPG50. Just weeks prior, his little boy Michael had received the first dose.
It was incredibly hard to process, but in the midst of the devastation and fear and sadness, there was hope. We could save Jack.
In this terrifying darkness, Jack is the light. He is so sweet, smart, and happy. He loves big, has a twinkle in his eye, and his laugh is our favorite sound in the world. We are so lucky that he is ours.
We have started a nonprofit organization called "Jack's Corner" to raise funds so that all children with SPG50 can receive this gene therapy. Our goal is that no child or family ever gets this news again without feeling hope and knowing there is cure.
Our goal is to raise $2,500,000 USD to help fund 8-10 children receiving this life-altering gene therapy.