A LETTERKENNY family who have been campaigning for a life saving drug for Amyloidosis patients to be made available in Ireland after losing two relatives to the hereditary condition have said it was a bittersweet moment when they got the news that the HSE has given the treatment the green light.
Sisters Evelyn Cunningham and Bernie Cannon lost their mother Evelyn on June 3, 2017 aged 62, just eight weeks after their great-aunt Martha McGuinness also passed away from the horrific disease.
Amyloidosis is caused by the build up of an abnormal protein in the body’s tissues and organs.
It causes heart failure and nerve damage leading to paralysis, incontinence and wasting and it severely impairs virtually all aspects of daily living.
A drug called Patisiran is used as a gene silencer and for lowering the levels of the toxic protein that attacks the organs in the UK and in the North, however up until now it has not been available in the Republic.
Speaking to the Donegal News this week Evelyn said she was stunned when they got the news last Friday that the drug is being made available to patients.
“I was delighted. I thought we had a long battle ahead of us and I was very emotional.
“It was bittersweet. The first thing we did was look over at the photo of mum in the kitchen. I know she would be delighted for the rest of us.”
The family were left traumatised after the long battle fought by their mother who was only diagnosed with Amyloidosis a month before her death.
Doctors struggled to diagnose the condition which led the sisters to start an awareness campaign calling on GPs, cardiologists and neurologists to educate themselves about the symptoms such as carpal tunnel syndrome, weakness in the limbs, and an enlarged heart so they know what to look out for as early diagnosis is key.
Evelyn said the availability of Patisiran now gives people hope as there was no treatment up until now.
“If you were lucky enough to be diagnosed it was a death sentence because there was no treatment available,” she said.
Because so few people had heard of the disease the family found it a very lonely experience because they had no one to turn to for information and support.
On the back of this they helped to form an online support group on Facebook called ATTR Amyloidosis Ireland Support Group which now has 300 members, some from as far away as Australia and the US.
“Ever since the news broke more people have got in contact because now people think at least there is a point in trying to get help,” said Evelyn.
“People had this impression that there was no point in looking for help because there really was no available treatment. It can be quite depressing if the gene is in the family and people don’t want to talk about it.”
It is hoped that more people will reach out to the support group and will begin to talk about Amyloidosis now that there is treatment available.
Evelyn said their next task is to find out about the process involved in accessing the drug from the HSE and how long this will take.
She said they have patients in the support group that are in dire need of treatment so it is important it comes on stream quickly.
The good news about Patisiran came from the HSE’s Chief Clinical Officer, Colm Henry’s office following a meeting with Donegal Action for Cancer Care (DACC).
Welcoming the announcement, DACC Chair, Betty Holmes said they began to advocate for the drug after being contacted by Amyloidosis patient, Rosaline Callaghan from Burt, in April 2020.
“DACC are writing to ensure that a timeframe is put in place to ensure that there are no further delays in Amyloidosis patients receiving their Patisiran when they need it,” said Ms Holmes.
“With so little knowledge and information available of this terrible disease it vitally important that there would now be an awareness raising campaign.”
Posted: 7:33 pm July 16, 2021