A mum desperately trying to find answers about her young daughter’s medical condition has revealed that through her tenacity and research was able to personally diagnose a rare life-threatening disease.
Geneticist Dr Michelle Teng, 45, from Berkshire, revealed she discovered Sofia, 11, who struggles to speak and walk independently, suffered from an incurable genetic neurodegenerative condition after putting the youngster through a series of tests.
H-ABC – or hypomyelination with atrophy of the basal ganglia and cerebellum – is an extreme form of TUBB4a leukodystrophy.
The neurodegenerative disease, which affects the central nervous system, is rare, debilitating and life-threatening.
First discovered in 2015, TUBB4a leukodystrophy is caused by a mutation in the TUBB4a gene, it disrupts signals from nerves to the brain. It can lead to significant impairment of motor skills such as walking, sitting up and even swallowing.
“After repeated medical tests, we decided that we had to sequence the genome to find out what was really wrong,” she said. “It is only through a combination of genetic sequencing and MRI scans of the brain that H-ABC was identified and diagnosed.
“We were very fortunate because I work in in the field of genomics. Without putting Sofia through those tests, it would have been impossible to accurately diagnose her.”
Patients can also develop seizures, muscle contractions, hearing and speech difficulties, uncontrollable limb movements and paralysis, while others who have developed motor skills in early childhood can regress.
Babies and children who develop the mutation often face an early death.
Currently, there is no cure.
“It took a long while before we got to the answer, but there is a measure of relief that you know at least what you are dealing with, but also great denial because she was such a spritely happy child,” Dr Teng added.
“You just think ‘how could this possibly happen to her?’”
She added: “The international medical team that works with Sofia has been fantastic. We have had incredible support throughout her journey. We are incredibly grateful and lucky.”
But now work is being carried out in the hope of developing the world’s first treatment for the condition.
Antisense Oligonucleotides (ASOs) therapy, which has previously been used to treat conditions such as Duchenne muscular dystrophy and spinal muscular atrophy, is believed to dramatically improve the quality and life expectancy of leukodystrophy patients.
Dr Dan Willams, CEO and co-founder of Oxford-based biotech business SynaptixBio, which is developing a treatment, said it had the potential to modify the disease, increase survival 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 said.
“Successful prevention of leukodystrophy progression would be a revolutionary life-saving and life-enriching treatment.”
Research is under way, with SynaptixBio aiming to launch clinical trials in 2024.
“This project will change people’s lives,” Dr Williams said. “The 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 leukodystrophy sufferers. We want to ensure that dream becomes a reality.”
For more information visit www.synaptixbio.com
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