A FAMILY who are coming to terms with a diagnosis of Hereditary Amyloidosis have shared their story this week in the hope of educating others about the condition.
Before 2020 John Wilson had never heard of the life-threatening disease, which is also known as ‘Donegal Amy’ because of its prevalence in the county.
This all changed in July of that year when John became unwell at work and had to be admitted to hospital.
“It was initially thought I was having a heart attack. The symptoms settled and I was discharged from hospital 24 hours later,” said John, who lives in Rathmullan but is originally from Ard O’Donnell, Letterkenny.
A couple of weeks later he received a phone call from The Mater Private Hospital in Dublin where he underwent a heart scan which he thought was routine procedure.
For John, his wife Ann and their two daughters, Denise and Sinead, their lives turned upside down when they received the devastating diagnosis.
In order to determine what type of Amyloidosis he had John had to undergo a number of blood tests including genetic testing.
“We were told that if I had the genetic or hereditary type then there was nothing that could be done. As a family our world just came crashing down.
We waited up to nearly ten weeks for the genetic blood results which confirmed I had the hereditary type.
“During this time we started researching the condition and what options were available across the UK, Europe and America. At this point my daughter had made contact with the National Amyloidosis Centre in London who advised on the referral system from the Republic of Ireland.”
Amyloidosis, which is caused by a build-up of abnormal amyloid or protein deposits in the body, came to wider attention when it claimed the life of the Deputy First Minister of Northern Ireland, Martin McGuinness in March 2017.
In an effort to find out more information about the disease John’s daughter Sinead contacted Mr McGuinness’ son as the family tried to come to terms with the diagnosis.
“In November 2020 we met with the Consultant again in Letterkenny and he began the process of referring me to Dr. Emer Joyce, Cardiologist in The Mater Hospital with a special interest in Amyloidosis and also a referral was made to The National Amyloidosis Centre in Royal Free Hospital in London under the care of Professor Julian Gilmore.
We began researching into the drug Patisaran and the effects it would have but this wasn’t available to me here,” explained John.
“In January 2021 I met with Dr Joyce who confirmed I had Amyloidosis which was affecting my heart and also my joints and nerves.
It was at this point we realised that I had symptoms for a lengthy period of time which included severe joint pain in my hips, shoulder and feet, reduced feeling from the knees down, tiredness, weight loss, and shortness of breath on occasions.
She prescribed a cocktail of tablets for this, including a drug called Diffusinol. Again, we were faced with a problem of getting the Diffusinol but thanks to my local pharmacist, Tom Murray in Ramelton we were able to get this.”
In May 2021 John was contacted by the Richmond Clinic in London with the news that he may be suitable for a drug trial that involved gene editing with a drug called CRISPR.
This drug is used to reduce the patient’s TTR level, the protein that causes the disease.
After assessments were carried out it was confirmed John was a suitable candidate and a month later he travelled with his wife to London for three weeks to receive his first infusion.
John was the first person to receive a higher dose of the drug than previously given in the hope of driving levels of the toxic protein even lower.
“In July this year we were told that to everyone’s amazement the drug had more than the desired affect and has improved my blood work immensely,” he said.
“CRISPR hasn’t ‘cured’ my condition but it has improved my quality of life. I continue on medication for my heart and for the neuropathy (pains). The symptoms vary at times and can be worse or better. I have improved feeling in my legs and feet now too. I also attend a neurologist in Dublin along with Cardiologist in Letterkenny.
“I feel it is important that we educate people about the condition because the symptoms are not always obvious and people may look at me and say “he looks great” when they have no idea that it may have taken me twenty minutes to put my socks on this morning or that I had to stop what I was doing to catch my breath.
“Thanks to CRISPR and all the medical professionals involved far and wide I am now able to spend quality time with my wife, daughters and three grandchildren with a fourth grandchild soon to be here.”
John’s daughter Denise said when they began researching Amyloidosis they were shocked by what they learned.
“I had got married six months before Dad got sick and it was as if my world had been turned upside down. I spent days sitting and crying, I couldn’t get my head around it,” said Denise.
“The happiest day we had was on 14th July 2021 when Dad got his infusion of CRISPR.
“There have been really tough days, there have been lots of tears at the airport every time Mum and Dad went to London, every time we had a hospital appointment, every time Dad isn’t feeling well.
“There have been days where I’m thinking he will be here forever and there are days where I have thought he won’t see Christmas.
Initially, we never thought Dad would have seen his 60th birthday but he did this year in July and so we had a party to celebrate two milestones; his 60th and still being with us.
“Aside from a cure there is one thing I wish for and that is that people, especially people of Donegal, educate themselves on the condition.”
Denise said she also wants to see senior personnel in the health service educated about the disease as they had to fight for drugs like Diffusinol and for a neurology appointment.
“I have been every health care professional’s worst nightmare as I keep at them until I get the answers and the appointments but some people don’t have the support to do that,” she said.
Recalling the day her dad received his diagnosis Sinead said they were told “there’s no treatment, there’s no cure.”
“The only thing we could think to ask at the time was how long does our dad have. To be told 18 months roughly, these are the words you will never un-hear or forget,” said Sinead.
“How could we lose our dad, our hero, our rock. Our world crumbled before us, we couldn’t process anything the doctor was telling us.
“The news took so much out of us as a family, we couldn’t work, eat, sleep or even function on a daily basis. We spent everyday together, trying to make plans, make memories before it was too late. Another struggle was trying to explain Dad’s diagnosis to friends and family as we didn’t fully understand it ourselves and others could not understand the seriousness of it either which also took its toll on the four of us as a family.”
The family has spoken out about their journey to raise awareness on World Amyloidosis Day, which took place yesterday.
To mark World Amyloidosis Day, the volunteer organisation Amyloidosis Ireland, which advocates for patients, has released a documentary filmed during the first Amyloidosis conference in Gaoth Dobhair in May.
At the ‘Emerging from the Shadows’ event patients suffering from the condition heard of emerging new treatments.
The video, which is now available on the website Amy.ie, features a special message from singer Daniel O’Donnell as well as interviews with world renowned experts.