A mother fears time is running out to save her teenage daughter from a rare and incurable disease. However, there is hope that gene therapy could one day help people with the disease.
Mum Ali Candy-Waters, 53, from Cirencester has watched her 13-year-old daughter Aggie go from a ‘healthy, happy and beautiful baby’ to no longer being able to walk, talk or feed herself. Yet she’s still pretty much the same as most fashion-loving teens, TikTok, and the latest Netflix series.
Aggie has H-ABC, which is a severe form of TUBB4a leukodystrophy, a genetic condition that affects the central nervous system. It mainly affects babies and young children, many of whom tragically die far too early in their late teens.
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Now Ali is hoping a treatment will be developed before it’s too late for her daughter. She knows that medicine changes all the time and lives in hope that her daughter can get treatment to stop the progression of the disease.
Ali said: “Knowing that there is no cure for Aggie’s condition is absolutely heartbreaking. As a parent you want to be able to protect your child from everything but there is nothing we can do about this disease. .
“When she was born and I watched her in the crib, I felt like the cat that got the cream. Aggie was beautiful and absolutely perfect in every way.
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“She was beautiful beyond words. I had the perfect son and the perfect daughter.
“Aggie’s milestones have been delayed, but we can all attribute these things to children developing at different rates. At two years old, we noticed Aggie walking with a wide gate.
“Doctors said she might be hypermobile, but she was also falling a lot. A pediatrician gave us an MRI in 2015 when she was six years old.
“Then we were sent to another hospital who did all sorts of tests and biopsies but they didn’t diagnose Aggie. We felt like they were washing their hands telling us to just go enjoy of our life with our daughter and that it was not a progressive disease.
“We weren’t happy with that so we went for a second opinion at John Radcliffe in June 2015. They were amazing and the neurologist did genetic sequencing tests.”
The family watched Aggie, who at that time could walk, talk and draw. Afterwards, they were told that the little one’s condition was actually progressive and that life would change dramatically as Aggie grew.
Ali reached out to other parents who also have children with H-ABC leukodystrophy. Over time, she became aware of gene therapies that help stop the progression of similar conditions.
Ali said: “When Aggie was diagnosed, she was only one in 44 people diagnosed with it globally. We know there may be funds to consider getting gene therapy for that. at least stops the progression of the disease.
“There is great fear now with Aggie already a teenager a cure could take years to develop. Time is really running out for her.”
Caused by a mutation in the TUBB4a gene, it disrupts signals relayed between nerve cells in the brain. Patients may have difficulty walking, sitting, and swallowing.
They may also develop seizures, twitching, hearing and speech difficulties, and uncontrollable limb movements, while others who developed motor skills in early childhood may regress.
Ali is now Aggie’s full-time carer and says watching her daughter’s condition deteriorate is devastating for all who love her.
She said: “It’s been devastating to see his body give up on him, but we still remain positive. Maybe gene therapy could give him the chance to speak again or hold his phone.
“Plus, it’s incredibly difficult to diagnose. It requires genome sequencing and MRI scans to detect it. Symptoms can also be similar to other conditions such as cerebral palsy and people can be misdiagnosed.
However, experts now believe there could be thousands of people around the world who have it without knowing it, largely due to misdiagnosis. Aggie’s doctors initially thought she had hypermobility, which is very flexible joints that can cause pain.
Oxford-based biotech company SynaptixBio aims to develop the world’s first treatment in the coming years. They launched last year and are working on a new therapy that he hopes will “revolutionize” the way TUBB4a leukodystrophy is treated.
Antisense oligonucleotide (ASO) therapy, which has previously been used to treat conditions such as Duchenne muscular dystrophy and spinal muscular atrophy. It is now hoped to significantly improve the quality and prolong the life of patients with leukodystrophy.
SynaptixBio co-founder and CEO, Dr. Dan Willams, said: “The treatment had the potential to modify the disease, increase survival rates and significantly improve motor skill development. The new approach offers the possibility of stabilizing, improving the quality of life and extending the life expectancy of children suffering from this disease.
“Successfully preventing the progression of leukodystrophy would be a life-saving and rewarding breakthrough treatment for children everywhere. This project will change people’s lives.
“Research and development of a clinically proven treatment for TUBB4a would be a real game-changer for patients and their families.
“There is a real chance to improve the lives of people with leukodystrophy. We want to make sure that dream becomes a reality.
Research has already begun, with the company aiming to start clinical trials in 2024. For more information on the disease, please visit here.
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