A MUM fears time is running out to save her teenage daughter after her rare, incurable disease was misdiagnosed.
Ali Candy-Waters has seen daughter Aggie, 13, go from being a “healthy, happy and beautiful baby” to no longer being able to walk, talk or feed herself.
Aggie, from Cirencester, suffers from H-ABC, a severe form of TUBB4a leukodystrophy – a genetic disease that affects the central nervous system.
It mainly affects babies and young children, with many dying by their late teens.
Time is now running out for Aggie as her family wait for hope that a new treatment may be discovered before it’s too late.
Aggie around the time of her diagnosis in 2015
And they fear many more children could have the disease and it be undetected as it’s incredibly difficult to diagnose, requiring genome sequencing and MRI scans.
Doctors initially thought that Aggie had flexible joints – hypermobility – and symptoms can also be similar to other conditions such as cerebral palsy.
“It took a long time to find out exactly what Aggie had,” said Ali, 53.
“Without getting a correct diagnosis, thousands of patients could be taking the wrong medications.”
When the condition was discovered in 2014, early estimates claimed there were only 200 cases worldwide.
However, experts now believe there could be thousands of people worldwide who have it without knowing.
“Knowing there is no cure for Aggie’s condition is absolutely heart-breaking,” added Ali.
Aggie
“As a parent, you want to be able to protect your child from anything, but there is nothing we can do. We just try to support her in the best way we can.
“With Aggie already into her teens, a treatment could take years to develop. Time really is running out for our daughter.”
Ali, who is Aggie’s full-time carer, said having to watch her daughter’s condition deteriorate had “devastated” the family.
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.
“It has been devastating to watch her body giving up on her, but we always stay positive,” she said.
World’s first treatment
One glimmer of hope is from a company that has started to develop the world’s first treatment.
Oxford-based biotech firm SynaptixBio is working on Antisense Oligonucleotides (ASOs) therapy, which it it hopes will “revolutionise” how TUBB4a leukodystrophy is treated.
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.”
Research has already begun, with the firm aiming to launch clinical trials in 2024.
“There is a real chance to improve the lives of leukodystrophy sufferers. We want to ensure that dream becomes a reality,” Dr Williams said.
Aggie was diagnosed in June 2015 after undergoing an MRI scan.
For more information visit synaptixbio.com
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