Ali Waters-Candy has seen her daughter Aggie, 13, go from being a “healthy, happy and beautiful baby” to no longer being able to walk, talk or feed herself.
Aggie suffers from H-ABC, which is a severe form of TUBB4a leukodystrophy, a genetic disease that affects the central nervous system . It is rare, incurable and life-threatening.
It mainly affects babies and young children, with many tragically dying by their late teens.
Ali, 53, from Cirencester in Gloucestershire, said she hopes a treatment is developed before it’s too late for her daughter.
“Knowing there is no cure for Aggie’s condition is absolutely heart-breaking,” she said. “As a parent, you want to be able to protect your child from anything, but there is nothing we can do against this disease. We just try to support her in the best ways we can.
“But there is a great fear that, with Aggie already into her teens, a treatment could take years to develop. Time really is running out for our daughter.”
Aggie was diagnosed with H-ABC in June 2015 after undergoing an MRI scan.
First identified in 2014, TUBB4a leukodystrophy makes up 9% of a group of about 50 rare neurodegenerative disorders known as leukodystrophies.
Caused by a mutation in the TUBB4a gene, it disrupts signals being relayed between nerve cells in the brain.
Patients can suffer from difficulties walking, sitting up and swallowing.
They can also develop seizures, muscle contractions, hearing and speech difficulties, and uncontrollable limb movements, while others who have developed motor skills in early childhood can regress.
Ali, who is Aggie’s full-time carer, said having to watch her daughter’s condition deteriorate had “devastated” the family.
“Aggie was a healthy, happy and beautiful baby,” she added. “She was like the cat who got the cream.
“She was feeding well, but she had a problem with crawling and she was very late sitting up properly.
“It has been devastating to watch her body giving up on her, but we always stay positive.”
What’s more, it is incredibly difficult to diagnose. It requires genome sequencing and MRI scans to detect. Symptoms can also be similar to other conditions such as cerebral palsy.
Early estimates claimed there were only 200 cases of TUBB4a-associated leukodystrophy worldwide.
However, experts now believe there could be thousands of people worldwide who have it without knowing, largely due to misdiagnoses.
Ali said Aggie’s doctors first thought she had hypermobility - meaning very flexible joints that can cause pain.
“It took a long time to find out exactly what Aggie had,” she said. “Without getting a correct diagnosis, thousands of patients could be taking the wrong medications.”
But there is new hope a treatment could be on the horizon.
SynaptixBio is aiming to develop the world’s first treatment in the coming years.
Launched last year, the company is working on a new therapy it hopes will “revolutionise” how TUBB4a leukodystrophy is treated.
Antisense Oligonucleotides (ASOs) therapy, which has previously been used to treat conditions such as Duchenne muscular dystrophy and spinal muscular atrophy, is also hoped to dramatically improve the quality of - and extend - the lives of leukodystrophy patients.
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 skills development.”
“The new approach provides the potential to stabilise, improve quality of life and extend life expectancy in children suffering from the condition,” he added.
“Successful prevention of leukodystrophy progression would be a revolutionary life-saving and life-enriching treatment for children around the world.”
Research has already begun, with SynaptixBio aiming to launch clinical trials in 2024.