Harlow mum of daughter with H-ABC is 'helpless' without treatment
Only 200 people worldwide have ever been diagnosed with H-ABC, according to 2019 figures from Foundation to Fight H-ABC.Doctors misdiagnosed Ms Turner's condition until she was 17, when a physiotherapist raised concerns that her motor skills were worsening.The impact of H-ABC left Ms Turner unable to eat or use a toilet without difficulty, and she must sleep at a dedicated centre away from home each night.
'Helpless and lonely'
Ms Crowson has fought to keep her daughter living at home, despite saying that social workers suggested she should be "put into an institution".On the diagnosis, she said: "We felt helpless, I didn't know what would happen in the future because there was nothing known about it."We felt really lonely and I kept looking on Facebook to see if I could find any support groups."
Ms Crowson said her daughter was "very frustrated" at being unable to do simple tasks for herself."She crawls around, but even the crawling now has got to the point where she just shuffles and she gets frustrated with that," she said.The family have been hoping for a treatment that would slow the progress of H-ABC in patients.Ms Crowson added: "I'm not thinking it'll make her better, but it might just stop her from getting worse."SynaptixBio was one of the biotech companies developing a treatment for H-ABC, using a technique called "gene silencing".Dr Dan Williams, its chief executive, told the BBC: "Eighty percent of rare diseases are genetic and a large proportion of those are either due to the gene being toxic or there's too much of that gene being expressed."Gene silencing offers a way to decrease the amount being expressed or decrease the amount of toxic genes that are there, thus alleviating the symptoms for patients with those diseases."The Department of Health and Social Care said it was aware that those living with rare diseases and their families faced "immense everyday challenges"."Through our Rare Diseases Action Plan we aim to centre their voices to address the difficulties they face," a spokesperson said."We have committed to three new actions to improve co-ordination of care, access to specialised treatments and bolster research into innovative therapies for these rare conditions."More widely, our Plan for Change will transform the NHS by driving down waiting lists and investing in quality facilities to ensure all patients – including those with rare diseases - receive the care and treatment they deserve."
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