A MOTHER-OF-TWO who has Huntington’s and has lost her brother and father to the disease admits she cried tears of new hope over the “ground-breaking” drug trial.
Neuroscientist Marie Short, 46, who has the disease but who has not yet got the degenerative symptoms, said she “had a little cry” as she gave the news to her disease-free mother Rose Heath and her children Arran, 15, and Amy, 13, who have a 50:50 chance of inheriting the genetic disorder.
The unstoppable progression of the inherited disease Huntington’s could be slowed or even halted by an experimental new treatment which has proved “enormously successful” in early patient trials.
A trial led by researchers from University College London (UCL) has demonstrated for the first time that a treatment is capable of suppressing the genetic defect which causes toxic proteins to build up in the brain.
Her father Alfred was 54 when he died and Ms Short and her siblings all inherited the condition.
Her brother Hunter Young was 50 when he died four years ago and her sisters, Kathleen Celentano, 55, and Janet McIlwaine, 52, are both in care homes as they move into the final stages associated with the hereditary disease, which causes a progressive breakdown of nerve cells in the brain.
Ms Short, 46, from Brightons, Stirlingshire, who is now a trustee of the Scottish Huntington’s Association (SHA), the only charity in Scotland that supports people affected by the disease, has been fund-raising for the cause to try to try and give sufferers some hope.
Now she says she has allowed herself to get excited for the first time over the latest study.
“I am a neuroscientist. I know how specific it is and how important it is and I am absolutely thrilled. It’s not a total cure but it’s the next best thing at the moment,” she said.
“I have not felt like this way about any other study that has come out ever. I am just ecstatic.
“I phoned my mum and we had a little cry. It’s just phenomenal.
“The most amazing part of all for me is that my son and daughter now have a completely different future ahead of them. I’m ecstatic to be able to share that with them.”
IONIS-HTTRx is the first pharmaceutical agent designed to target the root cause of Huntington’s.
And the drug when injected into spinal fluid, was shown to lower levels of the harmful protein responsible for the brain disorder.
“I don’t have symptoms. I have known for 20-odd years that I am positive but I don’t have any neurological or motor symptoms and I have an annual review of that with a neurologist,” she explained.
“I am really really hopeful that it will stop HD in its tracks for people who are positive like me, although perhaps not turning back the clock for people further down the line.
“I still think it is a couple of years away for treatments to become available and paid for, but for me personally I am at the perfect stage for this.”
But she is concerned it might not be such great news for her sisters Ms Celentano who she said was at “end stage” and Ms McIlwaine who was “half way through her progression”
Ms Short said: “It would be hard for me to imagine them benefitting from it, by the time it goes through the next phase study and then the regulatory process, I would be very doubtful… but who knows.”
“The fact it has worked and hasn’t been toxic to the volunteers and patients opens up huge opportunities.”
Amongst her fund-raisers was a Himalayan trek with two friends last year which raised over £7,000 for SHA and Diabetes UK.