The New Statesman.

Hello and welcome to this special podcast brought to you by the New Statesman's Spotlight

Team. We cover policy for those who shape it and the businesses it affects. I'm Sarah

Darwood. A rare disease is defined as a condition that affects fewer than one in 2,000 people,

but as we'll learn in this episode, their cumulative effect is anything but rare.

Released to mark Rare Disease Day on the 28th of February, we're asking why these diseases,

affecting one in 17 people in the UK, still leave many families facing years

of uncertainty despite treatments and therapies being identified. This episode has been fully funded by

LifeArc, a not-for-profit medical research organisation that turns promising scientific research

into breakthroughs.

Joining me on the panel today is CEO of LifeArc Sam Barrel and Terry Pirovolakas,

whose son Michael has SBG-50, a neurological disorder affecting fewer than 100 people in the world.

Welcome to you both. Thanks so much for being here. Terry, could you start by telling us about Michael's diagnosis and your family's journey?

Absolutely. Yeah, so thank you for having us. Michael was born on December 17, 2017, a normal,

healthy birth. We were home within three hours, and we thought we would start our lives together with our other children. Around six months of age, we noticed he wasn't lifting his hands, he wasn't lifting his head. So we went to the doctor's office and they said, don't worry about it. He'll just grow out of these kind of things. Go see a physiotherapist. It might help and continue along. About two months after that, my wife continues saying, you know, Terry, something's wrong with Michael.

We need to do something more. it might help and continue along. About two months after that, my wife continues saying, you know,

Terry, something's wrong with Michael. We need to do something more. So we went to the pediatrician's

office. They diagnosed him with low muscle tone, as well as microcephaly. His head was not

growing at the World Health Organization's levels. They said that, again, children have this from time to time. They grew out of it.

Nothing to be concerned about, but just keep an eye on them. A month after that, again, we went back to

the pediatrician's office and we said something seriously wrong. And we were sent to infectious

diseases at sick kids in Toronto because I was doing a lot of work in Latin America at the time and they thought maybe I contracted Zika and somehow gave it to Michael and that's why he was having these these issues. We did all the panels. We did all the infectious disease testing and they found nothing was wrong with Michael. So we were sent to neurology. Neurology did an MRI. They found that he had

...