The mother of an eight-year-old boy with a tragic condition known as ‘childhood dementia’ is in a desperate bid to raise millions of pounds to get him treatment.
The US Food and Drug Administration (FDA) last week approved the first gene therapy treatment for patients with Sanfilippo Syndrome Type A – which little Cody Carroll has.
Mum Georgia Nonas, 29, was concerned when her healthy toddler started struggling with recurring ear infections and hearing loss at the age of two, before being given an autism diagnosis.
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But when one medic pointed out his “coarse features”, like thick eyebrows and a prominent forehead – commonly associated with Sanfilippo – further testing revealed the devastating truth.
The devastating rare disease, better known as childhood dementia, causes severe intellectual disability and, typically, death in the teenage years.
But the approval of the treatment option in the US has given Cody’s family reason for hope for the first time – though it comes at a steep cost of £2.95 million.
“It’s given us more hope than we’ve ever had,” Georgia, from Gateshead, told Need To Know.
“It has been completely overwhelming.
“I felt so many emotions at once [hearing that the treatment had been approved].
“There were lots of tears, so much joy and excitement, but also a sadness because, although the approval of UX111 is an incredible step forward, for families like ours it’s only the beginning of another battle.
“I’m incredibly happy for the families in America and for our whole Sanfilippo community, because this approval represents something we’ve been fighting and hoping for so long.
“But for us, it’s also very bittersweet because Cody is here in the UK and we still have to figure out how we can access the treatment and what that journey will look like for our family.
“One thing I said to my mum through tears was, ‘Maybe this means no other parents have to live with no hope’.
“And that thought made my heart so happy.
“When Cody was diagnosed, we were told there was no treatment and no cure.
“I will do absolutely everything in my power to get Cody there [to the US].
“We’ve been fundraising continuously leading up to the approval because we always knew that, if the treatment was approved, we would need to move quickly.
“The UK is not currently in a position to offer the treatment.
“We understand that discussions around UX111 aren’t even due to take place until April, and it could potentially be years before it is considered and made available here.
“With Sanfilippo, we simply don’t have years to wait.
“The sooner Cody can receive treatment, the more of him we hope we can preserve.”
Georgia, a full-time carer to Cody, started a GoFundMe page, where hundreds of people have donated so far, totalling £16,000.
But it will take a huge amount more to fund the full cost of the trip and treatment plan.
She said: “It’s an enormous amount of money, but we’re determined to explore every possible avenue.
“We’re planning to fundraise through a charity and apply for a range of medical grants and other sources of support to see if we can make this possible.
“We know it’s going to be a huge challenge, but we also know what is at stake.
“We have spent five years being told there was no treatment and no cure, and now there is an opportunity in front of us.
“We just can’t sit back and wait and wonder what might have happened if we’d acted sooner.”
The gene therapy, called UX111, is a one-time treatment designed to address the underlying cause of Sanfilippo, with the hope of slowing or stopping the progression of the disease and giving children more time.
Georgia said: “For us, that means the possibility of having more time with our baby and more time with the Cody we know and love.
“For other children, I hope they can access this treatment as early as possible and have the chance to live longer lives with less of the heartbreak that comes with Sanfilippo.
“The earlier children can be treated, the more hope there is that they can preserve more of the skills and abilities the disease would otherwise take from them.”
Cody started to show signs of developmental regression when he was two, and hasn’t spoken since, having been diagnosed in July 2021.
The diagnosis comes from the body missing an enzyme, which leads to his body producing waste that it can’t process, which then builds up on the spinal cord and brain.
It is progressive, meaning over time the damage caused by the waste takes away the ability to communicate, eat and walk – and causes brain damage.
Cody’s life expectancy is from mid-to-late teenage years, and he is expected to continue to decline.
Georgia said: “[When he was diagnosed] the doctors told me to take him home and give him all my love.”
The devastated mum has been “watching him fade away every single day”, but there is finally a shred of hope by way of the treatment being approved.
Georgia added: “With Cody, I honestly don’t know yet what this treatment could mean for him, and I think that’s one of the hardest parts.
“But it gives us more hope than we’ve ever had, and I’m trying to be as positive as humanly possible.
“I desperately hope the treatment can eventually become available in the UK too, particularly for younger children who may have the opportunity to benefit from it at an earlier stage of the disease.
“For our family, this approval doesn’t mean the fight is over; it means, for the first time, that we have something real to fight for.”
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