When our beautiful little boy Lowie arrived into the world, little did we know of the challenges that would lie ahead for him.

After a healthy pregnancy and straightforward delivery, he seemed very sleepy, had trouble feeding, slow weight gain, and later didn’t meet his motor milestones as expected. We became increasingly concerned and referred to a range of professionals. Lowie finally walked at 26 months, at which point we breathed a sigh of relief. Unfortunately, this was short lived, as it became increasingly apparent to us that something with Lowie’s development was atypical, leading us to pursue further medical investigations.

We found out in November 2024, the day before Lowie’s third birthday, that he has CTNNB1 syndrome. CTNNB1 is a rare genetic condition which impacts the function of a protein in the brain called beta-catenin. It is a de novo mutation, which means it is a genetic alteration that appears for the first time in a family, meaning it wasn't inherited from either parent.

It affects brain growth and development and therefore causes issues with Lowie’s movement and mobility, learning and cognitive development, sensory processing, speech, language and communication skills. Ultimately, life for Lowie could look very different to what we had hoped for him.

Lowie is known to various departments at Great Ormond Street Hospital for Children and he has been so brave throughout many appointments and investigations. Lowie also has speech and language therapy, occupational therapy, physiotherapy, music therapy, conductive education, with a number of these therapies privately funded, and is known to a variety of local health services.

After the diagnosis and an initial flurry of research and activity, including a contact with Špela Miroševič, President of the CTNNB1 Foundation, we felt a mixture of emotions; anger, anxiety, sadness, grief, despair, with a little hope sprinkled in, knowing that a Gene Replacement Therapy programme was in advanced stages. This all came at a difficult time, during the ill health of our beloved mum and grandmother, Marian, who recently passed in July 2025.

In June 2025, our family went to Bilbao for the 3rd International CTNNB1 conference and we realised that hope for Lowie is closer than we expected.

The CTNNB1 Foundation has submitted the clinical trial submission paperwork for Gene Replacement Therapy. The CTNNB1 Foundation was established on February 5, 2021, less than a year after the Foundation President’s son was diagnosed with CTNNB1 syndrome. CTNNB1 Foundation is a non-profit organisation whose central purpose is to improve the lives of children diagnosed with life-threatening and life-limiting rare genetic mutations. These, sometimes called orphan diseases, are simply not common enough to motivate 'for profit' pharmaceutical companies to investigate further. In the end, it is usually the parents who fight alone to develop treatment solutions. We are in awe of the work that the CTNNB1 Foundation have undertaken to make the prospect of Gene Replacement Therapy possible, and we want to contribute to these efforts in any way we can.

We have decided to start this GoFund Me page as a way of supporting Lowie and other children to receive treatment. We are in the process of registering a UK charity, so that we can help with fundraising on a larger scale, make a financial contribution from the UK to the international efforts, raise awareness of CTNNB1 amongst the community and also support other UK families who have children with the condition.

The foundation needs to raise around £445,000 of further funding in order for the clinical trial to begin later this year (2025). Much of the funding so far has come from the individual efforts of families, as well as some overseas government and corporate donations. After the first phase of the clinical trial, there will be subsequent phases, and if efficacy and safety is met, that is when the treatment will potentially be marketable, hence the clinical trials are the next step in this journey.

Please give whatever you can and share as widely as you can. Send it to your friends, colleagues, neighbours, employers, and contact us if you have any ideas about how we can raise funds.

We can’t do this alone, but, together, it may be possible. ❤️