Remi’s Story

My beautiful daughter, Remi, is only 19 months old. At just 5 months, she was diagnosed with a rare genetic neurodevelopmental disorder called Dup15q Syndrome — a duplication of a section of her chromosome 15.

Dup15q Syndrome affects roughly 1 in 10,000 births annually worldwide and most cases occur de novo, meaning they are not inherited but happen spontaneously.

Because of this chromosomal duplication, Remi faces many challenges, including complex epilepsy, autism, global developmental delay, and severe hypotonia (low muscle tone) — along with new hurdles we continue to learn about every day.

Epilepsy

Remi’s epilepsy first appeared at just 5 months old, when she began having infantile spasms — a devastating type of seizure common in babies with Dup15q.

Since then, she has trialed countless anti-epileptic drugs (AEDs), but none have managed to fully control her seizures, which have changed and worsened as she’s grown.

In February 2025, she began the Ketogenic Diet as an alternative treatment to help manage her epilepsy. While she still experiences hundreds of seizures a day, this diet has been the most effective so far in reducing the most aggressive types — the ones that are particularly harmful to her developing brain.

Autism

Between 70–90% of children with Dup15q go on to meet the criteria for Autism Spectrum Disorder (ASD).

It’s likely that as Remi grows, her autistic traits will become more noticeable — but with early support and therapies, we’re determined to give her every opportunity to thrive in her own unique way.

Hypotonia (Low Muscle Tone)

Remi’s hypotonia is very severe, making those precious milestones — like sitting, crawling, and walking — much harder to achieve.

She works tirelessly with her NHS physiotherapists to build strength and coordination, and we’re hopeful that soon she’ll reach the incredible milestone of sitting independently.

Global Developmental Delay

Global Developmental Delay is another hallmark of Dup15q Syndrome. Alongside her gross motor delays (sitting, crawling, walking), her fine motor skills and communication abilities are also affected.

Simple things like babbling, feeding, and coordination are daily challenges for Remi — but she approaches everything with courage, resilience, and her beautiful smile.

How You Can Help

On Sunday, 22nd March 2026, I’ll be running the Rome Marathon to raise funds and awareness for two special causes.

For Remi - 50% of all donations will go directly towards funding private physiotherapy, hydrotherapy, and occupational therapy sessions. These therapies are life-changing for Remi — helping her build strength, gain independence, and reach milestones that many of us take for granted.

For Epilepsy Society - The remaining 50% will be donated to the Epilepsy Society, in support of their incredible research, advocacy, and care for children, adults, and families living with epilepsy.

Every single donation, no matter how small, makes a huge impact.

From the bottom of my heart, thank you for taking the time to read Remi’s story — and for every single donation, share, or kind message.

Your support means the world to us and helps give Remi the best possible chance at a brighter, stronger future.