A little girl who would fall over up to 40 times a day was diagnosed with a rare syndrome – which leaves her feeling “trapped in her body”.
Matilda Monerawela, 10, was born with a neurodevelopmental disorder caused by mutations in the CTNNB1 gene – which provides the body with instructions for making a protein for cell development.
Her parents Amy, 40, and Cian, 34, noticed Matilda was behind on her development as a baby – but Amy initially “blamed herself” as a first time mum.
After going back and forth to the doctors since Matilda was around aged one a full exome test revealed her gene mutation when Matilda was aged three.
Now Matilda requires 24-hour care, struggles to communicate, uses a wheelchair because it is so painful for her to walk and has “dangerously violent” outbursts.
The family are fundraising to help a lifechanging drug get to clinical trials. The gene therapy – if it works – could help Matilda walk and talk.
Matilda is just one of 430 known to have CTNNB1 syndrome.
Amy, a speech and language therapist, from Torbay, Devon, said: “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 normal pregnancy until the midway point when they noticed Matilda’s head was very small.
Matilda was born on January 6, 2015 after Amy was induced when her Matilda’s heart rate slowed to “dangerous rates”.
Amy said: “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.
“In hindsight, things were wrong from the day she was born.”
As a first time mum, Amy said she had “no frame of reference” and “blamed herself” when Matilda was not hitting normal milestones like lifting her head and sitting up.
She said: “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.
“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 said: “This was when the fight began. The fight is ongoing, a daily struggle.”
Amy decided to quit her job in human relations and took a course to become a speech and language therapist so she could understand more about how to help her daughter and others.
She 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.”
Matilda only took her first steps aged three and a half but due to spasticity in her legs she used to fall 30 to 40 times a day and would often injure herself.
Amy and Cian, a maintenance manager, would cover the lounge with massive fluffy rugs to break her fall.
After years of searching for answers for Matilda’s health a neurologist at Bristol Children’s Hospital suggested a full exome test which was their “final shot” in 2018.
Amy said: “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 test revealed her diagnosis which was “lifechanging” but the parents have continued to struggle – as well as Edith, eight, who is a young carer for her sister.
Matilda’s diagnosis helped Amy connect with other parents and get in touch with Spela Mirosevic, a Slovenian researcher who has brought together scientists across Europe and America to create a new drug.
The drug is a type of gene therapy which has already been developed, and it has been recognised by the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA) as a promising therapy.
If they can refine the technology they drug can potentially target any genetic condition.
But the CTNNB1 foundation – who have developed the drug – need £1m to move the treatment into clinical trials.
Amy has set up a GoFundMe to raise £45,000 to fund the “final step” in this gene replacement therapy and hopes that, if the new drug is successful, Matilda may not have to move into a residential school and can stay living with her family.
If the drug works, even at Matilda’s age, her parents say there is a good chance she could walk and talk and that “she wouldn’t have these terrible outbursts or anger” and “could have some independence”.
She said it would also allow for little sister Edith “to have a little bit of her life back.”
By the time the drug gets the funding it needs to help the children, it may be too late for Matilda to make a full recovery but her parents hope the drug will help the next child.
Amy said: “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 – https://www.gofundme.com/f/the-future-of-gene-therapy-starts-here-fund-the-final-step
