My story began on 20th December 2020, the night that the government locked us down in Tier 5 Covid restrictions, the night my son was born. I knew from birth that Otis was disabled but quickly realised how little medics and health professionals understood about anything other than Down Syndrome and Cerebral Palsy. Sadly, when I asked questions, I was dismissed as a neurotic parent.

For the next five months, I spent sleepless nights researching all genetic neurodevelopmental conditions. My desktop research led me to attend the Cerebra Conference online (everything was online due to lockdown) and it was there I learned about Smith Magenis Syndrome (SMS). SMS seemed to answer all my questions... and it still does!

Otis is undiagnosed but he looks and behaves like a person with a mutation/small change in the RAI1 gene - a gene located on Chromosome 17. A change in the RAI1 gene leads to SMS. I'm still fighting to get a diagnosis. Geneticists at Evalina Hospital agree that Otis has a genetic neurodevelopmental condition and that he appears to have SMS and they have agreed to re-investigate his genome.

So what is SMS? Some people describe it as a bit like Down Syndrome with autism traits. I can see parallels, but I would go on to say it's vastly different in other ways too. People with SMS typically have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Otis has all of this.

Fast forward to Spring 2022 and I attended the SMS Foundation conference. Attending the conference made me realise how critical it was to connect with others who have 'lived experience.' A few months later, I became a Trustee of the SMS Foundation UK.

Fast forward to April 2024 and I'm running the London Landmark Half Marathon to raise money for the SMS Foundation.

Over the last 3 years, I've learned that my story isn't so rare after all. 1 in 25 babies will be born with a genetic condition. 1 in 17 of us will be affected by a rare disease at some point in our life. On average it takes 5 years for a diagnosis for a rare genetic ‘disease’. 3 in 100 people have a learning disability. I could go on… Essentially inclusion and acceptance is vital.

The SMS Foundation UK exists to support people living with SMS to have a fulfilling future. But we can't do this without financial support.

Every penny raised by our LLHM 2024 runners will go towards supporting families living with SMS through the SMS Foundation UK.

By supporting me run the LLHM runners are supporting some of the most vulnerable members in society - our SMS community.

Thank you.