A life full of possibility.

2019

The beginning of a long journey

Born in 2019, Kate needed intensive care soon after birth. In the weeks that followed, her parents noticed signs that led to repeated hospital investigations. Doctors identified very low muscle tone, and at just three months old she began physiotherapy and occupational therapy.

At seven months, she travelled to Great Ormond Street Hospital in London for extensive assessments. Her family began to understand the complexity of her heart, vision, breathing and mobility needs, even though they still had no final diagnosis. Glasses, respiratory support and regular therapy became part of her early life.

2020–2021

Finding answers. Finding her own pace.

In 2020 Kate began using BiPAP breathing support and underwent heart surgery. Later that year, her family finally received a diagnosis: Tatton-Brown-Rahman syndrome (opens in a new tab), a rare condition associated with a change in the DNMT3A gene.

Kate had begun making sounds such as “mamma” and “babba”. After seizures in October 2020, those sounds stopped. Her family has continued looking for ways to help her communicate what she wants, feels and needs.

Just before her second birthday, Kate sat independently. It was a milestone built on almost two years of practice. Further surgery on her ankles followed in 2021, along with continued therapy and care.

2022–2023

The first real hope of standing

In 2022 Kate began intensive therapy programmes at Adeli Medical Center in Slovakia, alongside her regular therapy in Malta. Specialist hospital follow-up continued.

Specialised surgery on both feet in Poland in 2023 was followed by a difficult recovery and ongoing rehabilitation. Months later, Kate began standing with a walker. Later that year, she started using a Trexo robotic walking device to practise supported steps and weight-bearing.

Her family also connected with the international TBRS community, meeting other families, clinicians and researchers. Alongside her mobility needs, Kate has severe visual impairment and sensitivity to light, requiring continued specialist support.

2024

Steps forward, and a new challenge

In April 2024 Kate managed assisted steps with only a little support. After years of therapy, it was a moment of real joy. Soon afterwards, her family learned that serious problems with both hips would require major reconstruction.

Preparing for surgery meant working on strength and function through therapy in Malta and intensive programmes abroad. Hospital care, rehabilitation, travel, home and school became a demanding rhythm of family life.

2025

Rebuilding, and a new way to communicate

In October 2025 Kate underwent major reconstruction of both hips and her pelvis. A long recovery followed. After weeks of restricted movement, rehabilitation began again, patiently rebuilding the strength she had worked so hard to gain.

At the end of the year, support from The Malta Trust Foundation helped Kate access an Eye Gaze communication device. By looking at a screen, she can make selections. Learning to use it reliably takes practice, but it offers another way to express choices and participate.

2026

Trying again, one step at a time

Breathing and vision needs continued to require hospital care and specialist monitoring. Rehabilitation after hip surgery remained a major focus, with NAPA programmes, CME therapy in Malta and other intensive work on standing, balance and strength.

In May, Kate reached around 150 steps using her Trexo robotic walker. She also became more independent with feeding. In August, her family travelled to France for a privately funded treatment and rehabilitation programme. Their account describes these programmes as opportunities, rather than promises of an outcome.

At her September orthopaedic review, the family reports that her surgeon was very pleased with the result of the hip reconstruction. Kate was standing and attempting steps again.

Small moments, real independence

In their October 2026 update, Kate’s parents describe her continuing intensive therapy, standing with less support and developing her use of communication tools. She remains non-verbal, uses a wheelchair, cannot yet walk independently and needs extensive daily assistance.

One recent cinema visit captured what progress means to her family: Kate watched the film while eating popcorn independently and holding her drink. An ordinary childhood moment, made possible by years of effort.

Support continues at home

Kate’s care extends far beyond appointments. Her daily routine involves positioning, movement, communication, respiratory support and personal care. Her family uses wheelchairs, standing frames, gait trainers, orthotic supports, hoists and specialist bathing equipment, alongside communication tools and BiPAP.

An adapted home and therapy equipment help make daily practice and care possible. As Kate grows, equipment needs maintenance, adjustment and replacement. Her family describes both the physical demands of care and the emotional weight of navigating a rare condition.