‘My daughter has a lifetime of disability ahead of her - we will give her every opportunity to thrive’

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A mother from Sheffield is raising awareness of her child’s rare genetic syndrome, and the frustrating uncertainties of the future.

Rowanna was just 10 months old when she was diagnosed with an extremely rare genetic condition.

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While the diagnosis offered some much needed answers for mum Amy Cookson, it has also raised many questions as so little is known about the condition.

“We don’t really know the long term expectancy,” the mum-of-five from Stannington said. “She’s got a lifetime of disability ahead of her, but we will give her every opportunity to thrive.”

Amy and her two-year-old daughter Rowanna at their home in Stannington, Sheffield.Amy and her two-year-old daughter Rowanna at their home in Stannington, Sheffield.
Amy and her two-year-old daughter Rowanna at their home in Stannington, Sheffield. | National World

Two-year-old Rowanna has a diagnosis of CTNNB1, a condition that affects only 500 people across the globe. For Rowanna, it means she cannot talk, walk, or even swallow.

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She has also been diagnosed with a condition that can cause progressive vision loss called familial exudative vitreoretinopathy (FEVR).

But despite these differences, Rowanna is often laughing and beaming at everyone she meets, and loves to be surrounded by her four older siblings.

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Rowanna has an extremely rare genetic condition called CTNNB1.Rowanna has an extremely rare genetic condition called CTNNB1.
Rowanna has an extremely rare genetic condition called CTNNB1. | National World

Amy, aged 37, said: “She brings so much positivity into everyone’s lives. We feel lucky to have her.”

It was around eight weeks after Rowanna was born that Amy realised something wasn’t right. Not only was she not meeting typical developmental milestones, but she was also displaying frightening episodes where she would stop breathing.

Amy said: “We kept going to A&E because she kept choking on secretions. We were really struggling to find a way for her to feed.

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“There have been times where she has stopped breathing. Most of the time we can rectify it but we always worry if this is the time we can’t.”

Mum Amy Cookson pictured with her children. From left to right: Frankie, Felicity, Jody with Rowanna, and Louis.Mum Amy Cookson pictured with her children. From left to right: Frankie, Felicity, Jody with Rowanna, and Louis.
Mum Amy Cookson pictured with her children. From left to right: Frankie, Felicity, Jody with Rowanna, and Louis. | Submitted

Amy said it was during one of the many times baby Rowanna was admitted into the hospital that her condition was found by ‘accident’. An abnormal result from a blood gas test led to doctors carrying out genetic testing, and she was officially diagnosed with CTNNB1 at 10 months old. 

Rowanna has since been fitted with a feeding tube that goes directly into her small bowel, but as she moves so much, the balloon that holds the tube in place keeps bursting, making Rowanna’s feed spill. 

She is currently on a waitlist for another operation.

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Amy, who suffers with postural orthostatic tachycardia syndrome (POTS), and myalgic encephalomyelitis (ME), also has a seven-year-old with autism. Her eldest daughter, 16-year-old Jody Brocklebank, was recently presented with an award by Prince Harry at the WellChild Awards thanks to her selfless work helping her single mum care for the family.

Jody Brocklebank, from Stannington, was given an award for her dedication to helping her mum care for her four siblings - including two with complex needs. Pictured is Jody with her youngest sister Rowanna.Jody Brocklebank, from Stannington, was given an award for her dedication to helping her mum care for her four siblings - including two with complex needs. Pictured is Jody with her youngest sister Rowanna.
Jody Brocklebank, from Stannington, was given an award for her dedication to helping her mum care for her four siblings - including two with complex needs. Pictured is Jody with her youngest sister Rowanna. | Submitted

“As a disabled parent you’re working around the clock,” Amy said. “You’re not just a parent, you’re a nurse. I have got support from my incredible daughter [Jody], and my parents are fantastic, and two sisters.

“I’m worried because of my own health and I’m reliant on everyone else. I’m dreading my parents getting older.

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“It’s the first time I have not had a mobile child. As she’s got older we’re realising the world is not disabled friendly at all. We are starting to come across problems.

“We are just starting to apply for schools and nurseries and even that is such a long difficult process. It’s only going to get harder.”

Amy has already started to find that the world is not disability-friendly with her two-year-old daughter.Amy has already started to find that the world is not disability-friendly with her two-year-old daughter.
Amy has already started to find that the world is not disability-friendly with her two-year-old daughter. | National World

Amy wants to create a support group to bring together other parents of disabled children in Sheffield. She is also planning to take her children to Boston in the United States of America next year to join a conference on CTNNB1.

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Craig Radford, chief operating officer at Sheffield Children’s NHS Foundation Trust said: “At Sheffield Children’s we are dedicated to getting children the care they need, as quickly as possible, and reducing our waiting times in care are a key priority. We know it is difficult to wait for the next appointment, and we are working to keep families up to date with progress in their care.

“We have invested in a number of ways to make sure children are seen as soon as possible, including extra clinics and weekend appointments.

“We also have a specialist panel which reviews children and young people waiting to receive care with us and this is to make sure no harm comes to patients while waiting and that those with highest priority are seen quickly.”

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