Meet Jon

Age 5, Spinal Muscular Atrophy

There is no doubt in the minds of parents Megan and Andrew that their son Jon would not be alive today without medical research.

“At first, we were told ‘your son will not walk’. Then ‘he won't sit’, then ‘he will die before his first birthday’. What the doctors were saying, just kept escalating. It just got more and more extreme.’’

- Megan, Jon's Mum

Megan and Andrew were experienced parents with two daughters, before their son Jon was born, and they noticed that Jon still couldn’t lift his head at six weeks of age. Despite their concerns, they never expected to be told he had a devastating and fatal condition known as Spinal Muscular Atrophy, where the nerves connecting to every muscle in his body slowly dies.

“It went from nothing's wrong - to something is very wrong,’’ Megan said.

Andrew said he knew the condition was serious when doctors said they would understand if the family chose not to seek treatment.

“They said you could just take him home and love him, until he’s gone. That gave me an idea of how bad it must be.’’

Incredibly for Jon and his family, they soon learnt that there was gene therapy available for SMA.  This means one simple injection can replace the error in his DNA. Unfortunately, the treatment cannot repair damage that has already been done to his nerves – but it has still changed his life.

“I still remember the phone call that we got, saying it was going to happen, I just sat on the kitchen floor and cried because it was so surreal, thinking that our son was going to have this really new treatment that could really turn his life around,’’ Megan said.

Jon suddenly was able to turn his head and lift his arms, and while he uses a wheelchair for mobility, he can confidently move himself around.

“It's still a tough road,’’ Andrew said. “But we do have him – that’s what the gene therapy has done – we still have him. It's exciting for Jon, but it's really, really exciting for children who are diagnosed at birth and are getting the gene therapy earlier.  I mean, it is essentially a cure.’’

Megan said meeting the scientists at Children’s Medical Research Institute who are working on better outcomes for people with SMA was incredible.

“To go behind the scenes, and to see the research and talk to the people who are actually making these positive changes - it was really humbling to see what they were doing and how curious they were to hear how we were going. They wanted to see how they could keep improving it.

“I think the exciting thing is that what they're learning through the trials with SMA can be applied then to a whole different range of diseases, and it's really opening up realms of possibility of what can be done for genetic diseases.’’

Watch Jon's Story

Associate Professor Leszek Lisowski, Head of Translational Vectorology, and Professor Ian Alexander, Head of Gene Therapy

How research is helping kids with genetic diseases, like Jon

Our world-leading gene therapy research programs are making the incurable, curable.

Your support of Children’s Medical Research Institute by participating in Jeans for Genes makes all this and more possible.

Sign up to fundraise or donate today