The girl whose mother thought ‘just clumsy’ had a life-limiting disorder

Nicola Morris thought her daughter Imogen was simply clumsy as a young girl. She first noticed that she was unsteady on her feet when she was just two years old.

Fast forward to today and Nicola has to support Imogen, now 15, to walk, eat and shower. She said she sees him “worsening every day”.

Nicola of Oldham spent years trying to get answers from doctors. Eventually, she was told that Imogen had a rare genetic disorder that would impair her movement and abilities over time – and she could lose her sight.

Now, Nicola, a mother of three, is hoping to move to the Netherlands to see specialists who are working on treating people with Imogen’s condition.

talking to ManSingle mother Nicola said: “I’ve always noticed that things were different about Imogen, even from the age of two or three. She had poor balance, was clumsy on her feet and all the time She kept falling.

“At first we thought it was her youth, and she was my first child so I couldn’t compare it to anything, but I noticed she was getting worse. She was referred for physio and occupational therapy But then by year two she couldn’t walk without holding on to things, couldn’t step through doors and was becoming less stable on her feet.

“I pushed her to be seen by someone and she was diagnosed with dyspraxia and autism. I looked back at her more, she started having tremors and spasms, so I asked for another referral to see a neurologist. pushed off.

“She was referred for an MRI scan and it came back that she had white matter on her brain. Genetics testing confirmed to us in 2015 that she had leukodystrophy.”

The rare form of Imogen’s disease, 4H leukodystrophy, is incurable. His mutation is POLR3B. It is a rare genetic disorder that affects the nervous system.

4H leukodystrophy is inherited and occurs only when both parents have the genetic mutation, but there are usually no symptoms themselves. People living with the condition often have motor problems, such as stiffness in muscles and joints, or with balance and coordination.

Now a teenager, Imogen is unable to go to the top of the road to visit friends or eat normal foods that aren’t bland. Daily chores like bathing and climbing stairs are becoming unbearable for her.

nicola and imogen

Defiant mother Nicola in the Netherlands, doctor N. Wolf, who works at the Center for Childhood White Matter Disorders, Department of Child Neurology at VU University Medical Center, Amsterdam.

Nicola explained, “We all carry the faulty gene and it was both me and Imogen’s father who took it and passed it on to him. We were really genetically incompatible.”

“We were told there was no treatment and she could possibly lose her vision, her speech, and her mobility. All the nerves that send signals to her brain for movement and the muscles in her body weren’t going through.

“Now she struggles with her eating and needs soft food because she chokes easily, and I’ve noticed it get worse. She also struggles to speak, almost on her tongue.” Too big for his mouth.

“It’s frustrating because we can’t be given an answer and I know there’s nothing I can do. There are mornings when she can’t even walk or move around. Your baby is spoiling every day.” It’s so stressful and heartbreaking to watch in front of your eyes.

“She’s a teenage girl with no independence. She can’t go out for a walk or do normal things like shower herself, her life is just becoming so limited. She’s about to turn 16 soon.” Is going to prom and just can’t do things any other teen can do.

Nicola’s friend Fundraising efforts were made to see the family move to the Netherlands to see a specialist doctor for greater clarity. – At a cost of over £300 per appointment. She’s raising funds for the development of the home to make Imogen’s life easier, including a wet room so she can wash herself, a wheelchair and a ladder, as well as a support dog.

Nikola, Joe Documents Imogen’s journey on the Facebook page, says Occupational Therapy with Oldham Council had an oversight in the past, but her daughter didn’t meet the requirements for a wheelchair. She wants to be able to go out as a family with her other two children, Gracie, six, and Erin, eight.

A joint spokesperson for Oldham Council and the Oldham Care Organisation, said: “The health and well-being of our residents is of great importance to us and we will do everything we can to support those who need our help. We conduct a thorough assessment of each individual’s setting needs and we make recommendations for equipment and adaptation in line with relevant guidelines and legislation.

“Our Community Occupational Therapy team and pediatric physiotherapy team are in close contact with the family and will continue to work with them to ensure they get the support they need and deserve.”

Nicola said: “We need a chair so that we can go out together as a family easily. A wet room so that he can shower independently, because he’s going to be able to do things so badly. wants.

“It’s so hard as a single parent without any support. She can’t go out and do anything because she’s so weak, but that’s all I can give her. I can’t help whenever I want.” following her, her life is getting worse.”

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