How I Met 'Irish Amy'
I was introduced to Amyloidosis in 1982 when I was 22 years of age and back in Ireland for a holiday from Canada where I had gone to work as a nanny.
I’ve travelled a lot. My mother says she should have named me Lee Marvin as I was born under a wandering star.
My paternal aunt Polly had recently died at the age of 58 after a long drawn out illness which had baffled the doctors. She was in different hospitals the length and the breadth of the country trying to find out what was going on.
My father and I were sitting in his living room when he said, “Rosaline, they’re saying it’s something called Familial Amyloidosis and that it’s hereditary. I think this is going to have implications for us.”
I heard what he said, but I was young and invincible and parked it away at the back of mind, unaware of the prescience of his words.
As was he.
Roll the years forward to 1991; to my father, now 61 and realising there was something wrong with him and that his legs were not working properly, among other things.
He received his diagnosis of familial amyloidosis later that year.
We knew the illness would be progressive and ultimately fatal.
A strong, active man who spent hours walking the fields of Burt, Donegal where he had been born and raised, needed to crawl on his hands and knees to get from one room to another.
And, then he could crawl no more.
Amyloidosis is relentlessly cruel and he spent the final months of his life in a local hospice; almost twenty-two of them until his death in the opening days of 1997.
He is buried in a small, townland graveyard in Burt, beside his sister, Polly.
The spectre of amyloidosis was no longer parked at the back of my brain. It was now up front.
I was working as a barrister in Northern Ireland. It was a good career and I had worked hard to succeed.
I lived in a small house across from a beach and from the outside my life could look picture perfect to some.
But the niggle was there. And the haunting fear of what could lie ahead for me, and my sisters and brother.
Not a lot was known about Hereditary Amyloidosis.
I found it difficult to try to talk to people about it, knowing they would struggle with comprehension of what it could mean.
My goodness, I could hardly comprehend it myself.
So, it was a lonely place.
We believe it came through my paternal grandmother’s family line but she had died aged 45 after giving birth to her thirteenth child so she had died too young to show symptoms of my type, such symptoms usually showing at a later age, so amyloidosis had not been in the fabric of our family story until Polly.
Roll forward again to 2007.
I had been woken out of my sleep by my father’s voice.
“Rosaline, you have amyloidosis”.
To say I was incredulous is an understatement but I acted on that voice and took myself off to the Royal Free Hospital in London, the Amyloidosis Centre of Excellence, to request genetic testing.
It came as no surprise to me that I had inherited the faulty gene.
Not everyone who has the faulty gene goes on to develop the disease.
And, I cannot tell you how I knew I would, but I did.
Now, I was acutely aware of a new soundtrack to my life; a ticking clock.
Roll forward again to 2013.
I am now 53 years old and “knowing” I might only have a few years left to do the things I wanted to do.
So, I gave up the career, and the house, and the car; packed my bags and headed off to travel around Ireland and farther afield.
I particularly wanted to spend time in Donegal knowing that my type of Amyloidosis originated in a fifteen mile stretch of coastline in North West Donegal. I wanted to immerse myself in the time and space of my ancestors.
Then further afield to experience the many beautiful countries of our world.
Roll forward again to October 2018 and I am travelling in Turkey.
On yet another night, I am awoken out of my sleep.
This time, it is with pins and needles, electric shocks, and tingling in my arms and hands.
My hands are no longer working. They are completely numb.
Off to a local hospital where I was diagnosed with bilateral carpal tunnel syndrome, and had emergency surgery on my right wrist.
I had a vague internal disturbance. I knew from my research that bilateral carpal tunnel syndrome could be a red flag for Amyloidosis but I also knew it could occur independently of anything more sinister.
I was to go back in another four weeks to have surgery in my left hand but the thought occurred to me that if there was something more sinister going on, it might be wise to hold off until I got home in case I needed that nerve to be biopsied.
In May 2019, I am in a swimming pool.
I lay on my back and put my feet on the sides of the pool to kick off and realise I cannot properly feel the soles of my feet.
It was at that stage I knew something was seriously wrong.
The spectre of Amyloidosis was no longer rumbling in my mind.
It was now my travelling companion.
I had already made an important decision. I was not going to see this long drawn out affair to the very end. Nor did I want to put my family through it again.
I had an exit strategy in place for the time when I would be totally compromised by Amyloidosis.
Then in July 2019, I received a barrage of emails from friends.
It was all over the news that a revolutionary gene-silencing treatment was now available in England.
It became available in Northern Ireland a few weeks later.
Off to the Royal Free Hospital in October 2019.
I had three days of tests. My Amyloidosis is primarily neuropathy, as was my father’s.
Polly’s was primarily cardiac involvement highlighting that this disease can present in different ways even for members of the same family.
I was scheduled to get local testing with a Consultant Neurologist in March 2020 but Covid-19 changed our world as we knew it and local tests were cancelled.
The gateway to treatment was a formal diagnosis of neuropathy. It certainly was there but confirmation was needed.
I admit to getting into a bit of a quandary about that. Each passing month heralds a little more pain, difficulty walking, tingling, numbness, fatigue. I have a constant burning pain in both my hips. I feel like I walk at normal speed but I do not. My ankles feel as if they are carrying heavy weights. My right foot sometimes “sticks” to the floor. My right arm and hand are either not working or very sore, with the same electric shock sensations I have in both legs.
Everything I do takes SO much effort, like wading through treacle.
Did I mention the fatigue?
I was anxious to get treatment started.
I email the Royal Free regularly to give them updates and in April 2020, I received a telephone call from one of the Professors there and he confirmed my treatment is to start.
Absolutely fabulous news. and in light of the Coronavirus, the infusions can take place in my home.
One problem is that, in England, treatment can start following a prescription from the Royal Free. In Northern Ireland, an application for funding has to be made so I am working on getting that changed for other people like me.
And, although this rare disease is of Donegal origin, treatments are not available in Ireland.
But, I am incredibly grateful to know that my life-saving treatment will start in the next few months and the relentless progression will be halted.
I had everything planned, or so I thought, in anticipation of the ravages of Amyloidosis.
Now, aged 60, I am looking to build a new life for myself. Where that will take me I have no idea but I like to write and take photographs so am working on this wee website which keeps me occupied while I currently shelter at home for twelve weeks.
Perhaps, sometime in the future I shall meet a nice gentleman to step out with. The criteria he needs to meet are not that stringent; he simply needs to be single, solvent and sane.
And, I am committed to raising awareness of this disease. I continue to live in Derry. But, Hereditary Amyloidosis does not recognise any border.
Indeed, it has travelled the world with the Irish Diaspora.
I chat with people from Australia and America , where they call it the ‘Irish Amy’.
And we all have ancestors who come from that fifteen mile stretch of coastline in North West Donegal.
As did, of course, Polly’s son, Stephen. He and I had many a childhood fight over whose turn it was to go on a rocking horse.
But, that’s another story.
Stephen is also buried in that small townland graveyard in Burt. He died in 2017 from Hereditary Amyloidosis at the age of 58.
Beir bua agus beannacht,