SUFFERERS of the hereditary condition Amyloidosis have produced a short documentary to raise awareness ahead of World Amyloidosis Day.
The video aims to raise awareness about the horrific disease, about the importance of early diagnosis and the treatments available.
The video can be viewed here: https://m.youtube.com/watch?fbclid=IwAR0HKRi7YXPr8bHFjpCr1LyKcg6VA9tiiJ0RlGj9SxXeOk9lEQ6J2tXlNiA&v=5mWCxhTqfLM&feature=youtu.be
Plans for an Amyloidosis conference in Gaoth Dobhair next year are also in the pipeline.
Leading medical professionals will attend the event on May 28, 2022 in An Chúirt Hotel along with patients affected by the condition.
Hereditary Amylodiosis, or Donegal Amy as it is also known because of its prevalence in Donegal, is caused by the build up of an abnormal protein in the body’s tissues and organs.
It is classed as a rare disease but there are 50,000 affected people worldwide.
There have been very positive developments for Amyloidosis sufferers recently with the approval by the HSE of Patisiran, a gene silencing drug. Amyloidosis patients have also been involved in clinical trials and have been given a one-off infusion of a molecule known as CRISPR/Cas 9. The use of CRISPR allows scientists to make very precise changes in DNA.
Donegal man James Greene, who was diagnosed with the condition last July, was among the first patients to take part in the clinical trial.
“What was a progressive, fatal disease is now a manageable chronic condition. Early diagnosis is still key and this is where genetic testing comes to play,” said James.
James is one of a number of Donegal Amyloidosis suffers to take part in the awareness video which will be launched for World Amyloidosis Day on Monday and will be available on YouTube.
The video sees Gaoth Dobhair man Paddy Doherty open up about taking part in the CRISPR clinical trial and about the hope that is out there for patients.
Letterkenny’s Evelyn Cunningham speaks about the loss of her mother Evelyn who passed away in 2017, aged 62. For a long time doctors were unable to diagnose Evelyn but because of her determination to get answers her daughters now know that the condition affects their family.
Rosaline Callaghan, whose family is from Burt, only became aware of Amyloidosis when her aunt Polly became ill. Rosaline was diagnosed two years earlier than most people because she was aware of her family history.
Funding for the video was secured through Creative Ireland with the help of Jeremy Fitz Howard, Manager of the Regional Cultural Centre.
said Mr Howard.
“James is doing hugely important work by highlighting such an important issue and by collaborating with local creatives, these personal stories can now reach global audiences,” said Mr Howard.
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Posted: 9:08 am October 27, 2021