Teddy was just three months old when he was diagnosed with CTNNB1 syndrome, a disease similar to cerebral palsy. But there’s a lot about the disease that is still unknown. His parents don’t know if he will ever walk or talk, but research could provide a cure, which is why your donation today is so important.
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He could be non-verbal or in a wheelchair for his whole life. We just don’t know."
Teddy’s parents, Lucy and Peter, noticed he had crossed eyes, not uncommon for a 3-month-old, and took him to the optometrist. They told him he would need to wear glasses and at the time they thought there was nothing else to worry about except trying to get a baby to wear glasses.
It was only at their regular check-up with Teddy’s paediatrician that they discovered he also had low muscle tone and weak head control. He was sent for an MRI and genetic testing.
The results were scary.
CTNNB1 syndrome has different symptoms for each child, and for Teddy, he has neurodevelopmental delays, spastic diplegia, and visual defects. He’s challenged physically, mentally, and emotionally.
The scary part – this disease isn’t inherited, it’s caused by a random error in DNA, and it can happen to anyone.
It’s hard to predict what his future will look like, as the syndrome was only discovered 10 years ago. This is why we need to act now, to find answers, but we need your help. You can help kids like Teddy by donating to research by 30 June.
There’s a lot of unknowns about this disease, but what we do know is the sooner a child is helped, while they are growing and developing, the greater the impact on their lives.
Teddy may not be able to speak now, but that doesn’t stop him. He’s found a unique way to interact with the world – through music.
“The first year he would cry through therapies, but singing and music calms him down and has even become a way for people to connect to Teddy,’’ Lucy said. “It breaks the ice with someone new. I tell people to sing, and it’s an instant friendship!”
While it’s heart-warming to know that Teddy’s found his own way to communicate and show joy, there are so many children with CTNNB1 who aren’t able to do the same and they need you.
Lucy knows how close research is which could help Teddy, and she hopes he will one day be able to do more than just listen and smile.
“I’m so excited for the day that he says ‘mum’.’’
You can help make that day happen. You can help research give Teddy a voice by donating today.
Your tax-deductible gift today will help fund the work of Associate Professor Leszek Lisowski and his team. They’re on the cusp of something that will help many more children like Teddy.
Associate Professor Leszek Lisowski and his team are known as tool makers. They create tools called vectors that can be used to not only treat but cure genetic diseases using gene therapy.
Leszek’s team have created pre-clinical models, using stem cells, so they can understand CTNNB1 and its impact on the brain.
“And we now have a vector that is working for one child,’’ Leszek said. “The next step is to test these therapies on cells from different patients to see which one works best. This will mean testing cells from a variety of children from different backgrounds, from different age groups and genders.”
We’re so close, which is why we need your help today. Research on Teddy’s condition has no government funding. This work relies on donations from everyday people like you.
“What these scientists hope to do is to transform the future in a way that most of us can’t even comprehend. The potential of gene therapy is here now, and we need to keep putting more money into it to change lives,” Lucy said.
We’re working towards a therapy that will work on every child with CTNNB1, so one day there will be a newborn screening test to immediately diagnose and treat children before a parent even sees any symptoms.