Matilda was diagnosed after her parents noticed she was behind on her development
A brave little girl who would fall up to 40 times daily has been diagnosed with a rare syndrome that makes her feel “trapped in her body”. 10-year-old, Matilda Monerawela, was born with a neurodevelopmental disorder due to mutations in the CTNNB1 gene, which is crucial for providing instructions for cell development protein.
Her parents, Amy, 40, and Cian, 34, realised Matilda was lagging in her development milestones as an infant, with Amy initially blaming herself as a new mum. The family’s persistent visits to the doctors since Matilda was about one led to the discovery of her gene mutation at the age of 3 through a full exome test.
Matilda now needs round-the-clock care, finds communication challenging, relies on a wheelchair due to the pain when walking and experiences “dangerously violent” episodes. The family is currently fundraising to support the advancement of a potentially life-altering drug into clinical trials.
This gene therapy could enable Matilda to walk and talk if successful. She is among just 430 individuals worldwide diagnosed with CTNNB1 syndrome.
Amy, a speech and language therapist from Torbay, Devon, shared: “A lot of what she does is really held back by her body. She is trapped in her body. She wants to be like everybody else. We want her to be able to go out in the world and do what she wants to do without being reliant on other people.
“And if it works, even if she can regain 50% of her functioning. That could mean that she could have a normal life.” Amy had a perfectly normal pregnancy until a sudden concern arose – Matilda’s head was unusually small. Tragedy struck when Matilda’s heart rate plummeted to “dangerous rates” leading to an induced birth on January 6, 2015.
Reflecting on those harrowing early days, Amy shared: “We were always certain in the beginning when her development wasn’t quite right, that she had cerebral palsy and that it was birth damage, because when she was born, she was quite lethargic and she didn’t cry.”
Looking back, Amy realised, “In hindsight, things were wrong from the day she was born.” Being new to motherhood, Amy had “no frame of reference” and harshly “blamed herself” for Matilda’s lack of typical developmental milestones, such as lifting her head and sitting up.
Recalling the initial bonding struggles, she confessed: “She didn’t smile at me, she didn’t look at me. It was really difficult to form a bond with her because it felt like it one way.” Amy expressed the guilt and self-blame that burdened her, saying: “As parents, you feel like you’re doing something wrong, so you blame yourself.
“You go to the parent groups and the baby groups and all the babies are doing these lovely things like rolling and crawling and sitting up and your baby’s not doing any of it. It was very, very isolating, very lonely and very scary.”
Amy said they were not taken seriously by doctors until Matilda was two years old when she started having lots of tests. Her condition remained a “mystery” after an MRI of the brain showed no sign of injury and her parents assumed Matilda had cerebral palsy.
Amy revealed the ongoing battle they face every day: “This was when the fight began. The fight is ongoing, a daily struggle.”
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Amy, a former human relations employee, ditched her job. She trained as a speech and language therapist to better support her daughter and others going through similar struggles.
Amy said: “You have to become a medical expert. You have to learn everything about paediatrics. You become one of those people that doctors dread, but you have to.”
Her daughter Matilda took her first steps at three and a half years old. However, her condition, spasticity in her legs, meant she fell frequently – up to 30 to 40 times daily, often injuring herself.
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To mitigate the risks, Amy and Cian, who works as a maintenance manager, decked out their lounge area with sizeable fluffy rugs to cushion Matilda’s falls. The journey towards an accurate diagnosis for Matilda was arduous.
After numerous tests, a neurologist at Bristol Children’s Hospital proposed a full exome test in 2018 – what Amy called their “final shot”. Expressing the difficulty of putting Matilda through more examinations, Amy stated: “We put her through so much testing and we didn’t want to do it to her anymore. So we said, right, this is the last thing.”
The resulting discovery was “lifechanging”. Yet challenges persist for the family, including for eight year old Edith, who undertakes the role of young carer for her sister.
Matilda’s diagnosis led Amy to connect with other parents and eventually Spela Mirosevic, a Slovenian researcher. She has successfully rallied scientists across Europe and America to develop a novel drug.
This drug, falling under gene therapy, has not only been devised but also gained attention from the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA). That marks it as a treatment with significant promise.
The technology, if refined, could potentially target any genetic condition. However, the CTNNB1 foundation, who have developed the drug, need £1m to progress the treatment into clinical trials.
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Amy has begun a GoFundMe campaign to raise £45,000 to fund the “final step” in this gene replacement therapy. She hopes that if the new drug proves successful, Matilda may not have to transition into a residential school and can continue living with her family.
If the drug is effective, even at Matilda’s age, her parents believe there’s a good chance she could walk and talk, and that “she wouldn’t have these terrible outbursts or anger” and “could have some independence”. It would also allow for her little sister Edith “to have a little bit of her life back.”
By the time the drug secures the necessary funding to assist the children, it might be too late for Matilda to fully recover. However, her parents remain hopeful that the drug will benefit the next child.
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Amy stated: “It will help future children. And if a child is born and they’re not really sure why they’re not developing properly, if you give this to a baby and it works to fix the faulty gene, you would be looking at a full recovery.
“It is not just for Matilda, it is for so many other children. They deserve a life that is free of pain and full of opportunity.” You can donate here.
