Devastating diagnosis of rare disease changed our lives forever
MUM THOUGHT HER FIRST DAUGHTER WAS JUST CLUMSY BUT NOW SHE HAS TO HELP HER EAT, WALK AND BATHE
A MUM who first thought her baby was clumsy now has to support her daughter to walk, eat and bathe herself due to a life-limiting disorder.
Nicola Morris, from Moorside, Oldham, first started noticing her little girl Imogen was unsteady on her feet and tumbling over a lot when she was just two years old - but now watches her ‘deteriorate every day.’
After years of desperately searching for answers and multiple healthcare appointments, she was eventually handed the news that Imogen, now
15 years old, had an extremely rare genetic disorder that would see her movement and abilities worsen over time and could even see her lose her sight.
As she battles with mothering three children and trying to support the needs of her daughter, whose illness is life-limiting, Nicola is hoping to travel across to the Netherlands to see specialists who are researching potential treatments for children with the disorder. It is a painful experience that sees Nicola watch her own daughter lose her independence day by day.
Speaking to the Manchester Evening News, single mum Nicola said: “I always noticed things were different about Imogen, even from being as young as two or three. Her balance was poor, she was clumsy on her feet and would fall over all the time.
“At first we just thought it was her being young, and she was my first child so I couldn’t compare it to anything, but I started noticing she was getting worse. She was referred to physio and occupational therapy, but then in year two she couldn’t walk without holding onto things, couldn’t step through doors and was becoming less steady on her feet.
“I saw her regress more, she started having tremors and spasms, so I pushed for another referral to see a neurologist. She was referred for an MRI scan and it came back she had white matter on her brain. Genetics testing confirmed to us in 2015 that she had Leukodystrophy.” Imogen’s rare form of the disease, 4H Leukodystrophy, is incurable. She has the mutation POLR3B. It is a rare genetic disorder that affects the nervous system. 4H leukodystrophy is inherited, and only occurs when both parents carry the genetic mutation, but generally have no symptoms themselves. People living with the condition often have motor problems, such as stiffness of the muscles and joints or with balance and their coordination. Now a teenager, Imogen is unable to even walk to the top of the street to meet friends or eat normal foods that haven’t been softened.
Defiant mum Nicola is raising money to visit Doctor N. Wolf in the Netherlands, who works at the department of Child Neurology, Center for Childhood White Matter Disorders, at VU University Medical Center, Amsterdam.
“We all carry faulty genes and it turns out me and Imogen’s dad both carried it and passed it on to her. We were virtually genetically incompatible,” Nicola explained.
“We were told there was no cure and that she could possibly lose her vision, her speech and her mobility. Now she struggles with her eating and needs to have soft foods because she chokes easily, and I have seen that get much worse. She struggles to speak too, almost like her tongue is too big for her mouth.
“It is frustrating because we can’t be given any answers and I know there is nothing I can do. There are mornings when she can’t even walk or get around anymore. It is so stressful and heartbreaking watching your child deteriorate every day in front of your eyes.
“She is soon going to be 16 and going to prom and just can’t do things any other teenager could.”
Nicola’s friend has taken up fundraising efforts, in a bid to see the family visit the Netherlands to see a specialist doctor for more clarity - at a cost of over £300 per appointment. She is also raising money for home developments to make Imogen’s life easier, including a wet room so she can wash herself, a wheelchair and a stairlift, as well as a support dog.
A joint spokesperson for Oldham Council and Oldham Care Organisation, said: “Our Community Occupational Therapy team and Paediatric Physiotherapy team are in close contact with the family and they will keep working with them to ensure they get the support they both need and deserve.”
It’s so stressful and heartbreaking watching your child deteriorate every day in front of you Nicola Morris