On Sunday 24th May 2026 we will be taking on our biggest running challenge yet! After last years Marathon we’ve decided on something bigger - and yes we must be mad because the Yorkshire Marathon hurt, A LOT!!

But this is for a very special cause……

Ada’s Story ♥️ told by her wonderful parents, Rachel and Andy.

Where do we even begin? We are incredibly proud of our beautiful Ada. She brings so much joy and happiness into our lives every day.

Ada was recently diagnosed with DeSanto Shinawi Syndrome (DESSH) an ultra rare (literally less than 1 in a million!) genetic condition that effects her development, behaviour and overall health. There are 20-30 known cases in the UK.

The condition is caused by a fault in one of the two copies of a gene called WAC. When one copy of the WAC gene is damaged, the body produces only about half the normal amount of WAC protein. This reduced level disrupts brain development and communication between cells, leading to a range of symptoms. For Ada, she has global developmental delay, low muscle tone, epilepsy, potentially vision and hearing impairments - we are still waiting on a number of appointments to fully understand all of Ada’s needs. The condition will continue to affect Ada as she grows.

As parents, Ada’s diagnosis has left us feeling a multitude of emotions that are hard to explain. Relief and validation because this explains so many of Ada’s difficulties but also profound sadness and uncertainly about her future and that it will likely be very different to how we imagined.

So why are we sharing this? People living with rare genetic disorders face lifelong challenges caused by abnormal development of the brain and nervous system. It is estimated that around half a million people in the UK live with a rare genetic neurodevelopment disorder. Because each of these conditions is so uncommon, there is often little commercial or academic incentive to study them. This has left families (including ours) without answers, support, or treatment options. Therefore, we are raising money for ‘Rare People’, a charity set up to ensure that children and adults with rare conditions are not forgotten by medical research.

Because DESSH is so rare, there are currently no treatments that target the underlying cause. Care focuses mainly on therapy and support for learning and development. However, in 2025, researchers at the Mayo Clinic in the USA used a new a AI program to compare the molecular structures of thousands of existing drugs with the structure of the WAC gene’s promoter region — the part that controls when the gene is switched on.

The AI identified a safe, existing drug that can cross the blood–brain barrier and may help activate the healthy copy of the WAC gene, increasing production of the WAC protein. Laboratory tests on cell cultures taken from a patient with DESSH showed that the drug raised WAC gene expression and protein levels. Following this, a single child was treated under the medical supervision of the team at the Mayo Clinic in the USA, with promising early signs of developmental progress and improved seizure control. This was a truly world first medical breakthrough which looks like it could have so much benefit.

Guy’s and St Thomas’ NHS Foundation Trust, one of the UK’s leading genetic research centres, has agreed to run a UK-based trial in collaboration with the Mayo Clinic team. The study will assess the effect of the drug in children and adults with DeSanto-Shinawi Syndrome from both the UK and other countries. However, because this is not yet a proven therapy for DESSH, ‘Rare People’ needs to raise approximately £250,000 to fund the trial for the first year.

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Ellen met Rachel and Andy in 2023 when as a Childminder she looked after their two boys Alfie and Eric. Ada’s family are going to do a series of fundraising events to raise money in hope that Ada will be able to access the trial as soon as possible. This is our contribution to try to help make that possible.

So what are we doing? Over a 12 hour period we will be running 5k, every hour on the hour. Starting at 7am, locally in Morecambe, running together as a team we will run a total of 60k - 37 miles! Apparently this can be classed as an Ultra Marathon!! 😱 Any runner will know that stopping when doing long distance is hellish trying to get the pace going again….so this will be no easy challenge!

We appreciate donating isn’t always possible, but if you can share our page it would really mean a lot. Raising awareness is also a massive part of any fundraiser.

Thank you for taking the time to visit our JustGiving page.

Ellen, Bex, Emily and Laura ❤️ ❤️

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity,