A mother in Wales says a promising new gene therapy in the United States could offer her young son a chance at a future she once believed was impossible.
Thomasina “Tammy” McDaid is racing against time to secure treatment for her son, Tate, who is living with Sanfilippo syndrome Type A, a rare genetic condition.
“When he was 2, Tate was diagnosed with autism. I always felt there was more going on. Sadly, after years of searching for answers, we’ve recently received the devastating diagnosis of Sanfilippo Syndrome Type A — a rare, genetic, terminal condition often called childhood dementia,” the GoFundMe page Tammy launched reads.
According to Cleveland clinic, “it causes a variety of cognitive (mental), behavioral and physical symptoms that get worse over time. These symptoms lead to premature death.”
What is Sanfilippo syndrome?
The devastating disorder affects the central nervous system and gradually causes children to lose abilities.
Tammy wrote: “Children with Sanfilippo slowly lose all the skills they’ve learned — walking, eating, and eventually movement. Tate has never spoken a word, and now I know I’ll never get to hear his voice. That’s a heartbreak I can barely put into words.”
Many patients do not survive beyond their teenage years.
Tate, who turns 6 in November, has not yet reached that stage of the disease. But Tammy says she cannot bring herself to think about what life might look like in 2027 because of how unpredictable and aggressive the condition can be.
She wrote: “Tate turning 5 was bitter sweet. A lot can change within the next year and that’s why it’s vital to get awareness out there.”
Tate’s condition was discovered through a brain scan. He had already been diagnosed with non-verbal autism at age 2, making it nearly impossible to recognize one of the disorder’s earliest warning signs. Now, a breakthrough treatment in the U.S. is giving families new hope.
A gene therapy is expected to be considered for approval on Sept. 19 following encouraging clinical trial results. According to Tammy, children who received the treatment have continued developing as though they do not have Sanfilippo syndrome, even at ages 11 and 12, a stage when the disease would typically have progressed significantly.
Treatment is expensive
Speaking to LADbible, she said: “It’s going to be the first approved treatment in this in the Sanfillipo world so all the children around the world will eventually benefit from it. It’s a big point in history, but it’s just one of those things where unfortunately my kid is on the cusp.
“We could get it over here in about two years’ time on the NHS, but the chances are that he would have already deteriorated by that point anyway to the extent where he couldn’t get the treatment anymore.”
While it is not considered a cure, it could potentially slow the disease’s progression. There is no official price yet, but Tammy says a Sanfilippo charity told her the treatment could cost between £1.5 million and £3 million.
Determined not to wait, she launched a fundraiser to travel to the U.S. as soon as the therapy receives approval.
“Because it’s such a severe, terminal illness, time isn’t on the kids’ side, so the minute it gets approved, they’re going to have distribution centres ready. On the legal side of things, they can’t call it a cure yet, but the children in the trials are still presenting as if they don’t have Sanfillipo. They’re 11 or 12, they’re still in typical sports clubs, still eating solid foods, and have friendship groups. Their quality of life is amazing. Tate having this treatment, I believe would just stop things in its tracks,” she told LADbible.
“I was expecting a non-verbal autistic child anyway because he got diagnosed autistic at two. So having a treatment would bring me back to a world where I can go back to work, I can go back to living for the future again.”
“We’re fighting against time”
She describes her son as having the energy of a “Duracell bunny,” but says eating has already become a challenge.
“We’re fighting against time because I can’t say for sure that in six months’ time he’s going to lose this or that,” she said.
“The deterioration can happen extremely quickly, but that’s not always the case. That’s the ugly part about this disease, we cannot properly prepare because we just don’t know when things will come.”
Tammy also hopes more families become aware of the rare condition. She says parents of children with Sanfilippo syndrome have noticed a common physical characteristic among many affected kids: facial features including a small “button nose” and coarse eyebrows.
While those traits alone do not confirm the disorder, she believes they could encourage parents to seek medical advice, particularly if other symptoms are present.
Tammy’s fundraising campaign has already raised more than £60,000, with Welsh stars including Rob Brydon and Michael Sheen lending their support as she continues trying to get Tate to the U.S. before time runs out.
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