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Published: 19 April 2024

Extraordinary Ella

Six-year-old Ella may not communicate through words, but her smile says it all.

“Ella is the happiest little girl,” explains Ella’s dad, Adam. “She sees no limits to what she can achieve. Through Ella’s eyes, she is no different to anyone else. She just gets on with living her best life.”

Julie, Adam and EllaElla was diagnosed with Rett Syndrome in 2023 after her parents spotted signs of developmental delay when she was two-years-old. It is a rare genetic neurological and developmental disorder that affects brain development.

“Ella is non-verbal, so she communicates mainly through clapping and noises,” explains Ella’s mum, Julie. “We can usually tell what she wants through the intensity of the claps. Involuntary hand movements mean that daily tasks such as eating and drinking are a challenge. She also finds it hard to balance, as she has small feet for her age, so she has a wheelchair to help with her mobility.”

Treatment for Rett Syndrome focuses on managing the symptoms.

Health professionals from KCHFT’s Children’s Therapies and Community Paediatrics Team visit Ella at her school in New Ash Green, which supports children with special educational needs.

“Three clinicians come into the school for joint clinics, meaning children and their families, like Ella, can benefit from the care of multiple healthcare professionals in one clinic appointment,” explains Kim Blackwell, Consultant Community Paediatrician. “This collaborative approach enables us to deliver the very best care we possibly can, putting the child’s needs and wellbeing at the centre.”

Julie said: “We feel really lucky with the support that Ella has in place at the school. All the clinicians and therapists come in to see Ella. It means she doesn’t have to miss school to attend health appointments and it feels like a normal part of her day in a familiar environment.

“She sees the community paediatrician, occupational therapist and physiotherapist in one session. We’ve already seen such an improvement in her mobility and core strength. Climbing stairs was always a challenge for Ella, but she is doing so much better which is really great to see.”

Despite the challenges of the condition, Ella lives life to the fullest doing the things she loves, says Adam.

“She loves watching her favourite TV shows and spending time with family. She’s really affectionate and loves cuddles. Nothing seems to faze her. Even when she first started using her wheelchair, she loved sitting in it and she just had this big smile on her face.”

While the future remains uncertain, Julie and Adam continue to advocate tirelessly for Ella’s future care and progress.

Julie explains: “We take each day as it comes but we are determined to make sure Ella gets the best support to help her continue to live her life to the fullest. There is progress being made into research around the condition, with the start of a new gene trial, which could potentially offer new treatments for Ella and others living with Rett Syndrome. That’s really promising for families like us.”