Raising money for Ada

Ada was born in September 2024. Perfect, tiny, and loved beyond words. For a while, everything seemed just as it should. But as the months passed, Ada began missing her developmental milestones and started experiencing seizures. At eight months old she was referred for genetic testing and by ten months we received the result that changed everything. Ada has DeSanto‑Shinawi Syndrome (DESSH), an ultra rare neurodevelopmental condition caused by a fault in one copy of the WAC gene.

DESSH affects how the brain grows and communicates. Key features include global developmental delay, low muscle tone, epilepsy, and potential vision or hearing impairments. With only around 20–30 known cases in the UK, families like ours often face uncertainty, limited support, and no established treatments.

We were told there is currently no therapy that targets the underlying cause of DESSH. Care focuses on therapy, monitoring, and helping children reach their potential.

However, in 2025, researchers at the Mayo Clinic in the USA made a remarkable breakthrough. Using an advanced AI tool, they identified an existing, safe drug that may help activate the healthy copy of the WAC gene. The clinic carefully supervised treatment of a child with DESSH and the trial showed increased WAC protein levels, developmental progress, and improved seizure control.

Now, Guy’s and St Thomas’ NHS Foundation Trust has agreed to run a UK based clinical trial for Ada and other people living with DESSH. To launch the first year of the study, Rare People must raise £350,000. We want Ada to have the chance to access this trial as soon as possible.

As a family, we’ll be taking on a series of fundraising events to help make this happen. Sharing our story doesn’t come naturally to us, but your support, whether donating, sharing, or cheering us on, means the world.

Thank you for helping us give Ada, and others living with DESSH, a chance to find support that could make a real difference to their lives.