Living with Hereditary Amyloidosis

I was introduced to amyloidosis in 1986 when I was 26 and back in Ireland for a holiday from Canada where I had gone to work as a nanny.

My paternal aunt, Polly, had died in 1982, at the age of 58, after a long drawn out illness that had baffled the doctors. She was in different hospitals throughout Ireland trying to find out what was going on.

My father and I had been sitting in his living room when he said, ‘Rosaline, they’re saying it’s something called amyloidosis and that it’s hereditary. I think this is going to have implications for us’.

I heard what he said, but being young and feeling the invincibility of youth, I parked it away at the back of mind, unaware of the prescience of his words, as was he.

We had never heard of amyloidosis before my aunt. I now understand it came through my paternal grandmother, she had died at the age of 45 giving birth to her 13th child, too young to have shown symptoms of the mutation Thr-Ala-60.

It was a real shock to learn it was hereditary.I have spoken to many people who experienced a similar shock having become ill with a hereditary disease of which they had never heard of.

What is Amyloidosis?

Amyloidosis is the name for a group of rare, serious conditions caused by the build-up of an abnormal form of a protein called amyloid in organs and tissues throughout the body.

ATTR amyloidosis is caused by a mutation that affects the function of a blood protein called transthyretin (TTR). This protein is made primarily in the liver. The condition affects multiple organs – most commonly the heart, the nervous system and the digestive system.

There are two types of ATTR amyloidosis: hereditary amyloidosis and hATTR wild-type Amyloidosis, also called ATTRw.

There are around 120 different mutations of hATTR. One of which is my type, Thr-60-Ala, also referred to as ‘Irish Amy’ or ‘Donegal Amy’ with origins in a 15-mile ribbon of coastline in North West Donegal.

The Irish diaspora took the mutation around the world and there are approximately 50,000 people affected worldwide.

The disease has different manifestations even for members of the same family.

Many Losses

Roll forward to 1991, my father began to experience symptoms and was diagnosed with hereditary amyloidosis.

At that time, no treatments were available. He spent the last 22 months of his life in a local hospice and died aged 67.

My cousin, Stephen (Polly’s son) also developed the disease and died at the age of 58.

It is a feature of any hereditary disease that many generations are affected and ‘disease fatigue’ is understandable. It takes its toll on families having to deal with it over and over again. At the moment, my aunt and cousin are also affected.

Genetic Testing

In 2007, I went to NAC (National Amyloidosis Centre) for genetic testing where it was confirmed I carry a ‘rogue gene’, which leads to the build up of abnormal transthyretin.

In 2015, I retired from my career as a barrister to take time to travel and enjoy the world while I still could as the spectre of my father’s experience was with me.

I developed symptoms in October 2018 and was preparing myself for the worst.

In June 2019, I heard of new treatments that were available and could hardly believe it.

In October 2019, I attended NAC again for three days of tests and the disease was confirmed.

Treatment

My prescribed treatment is a gene-silencer and will halt the progression of the disease, which is ultimately fatal in the absence of treatment.

I feel a great urgency to let other people know that there are now treatment options and according to Professor Julian Gillmore of the NAC, my gene silencing therapy is a ‘game changer’.

Raising Awareness

I approached local newspapers in the counties, Derry (Northern Ireland) and Donegal (Republic of Ireland), placing articles with them about the disease, with my email address as a contact.

I met a few Irish people online who also had experiences of ‘Donegal Amy’. Myself and five others started a Facebook group to raise awareness and provide support. We also set up an awareness page.

Campaigning

The huge problem is that my treatment is not yet approved in the Republic of Ireland, so our group has done a significant amount of lobbying to have the drug made available.

We pressed for an opportunity to do Patient Submissions, which was a lot of work, but necessary to make sure the government heard the voices of ATTR amyloidosis patients.

No Longer Alone

Our group officially organised an event on 1 May 2020 to celebrate Bealtaine, the Celtic celebration of life, and we now have over 180 members who no longer feel alone.

To share your experiences of living with a rare condition please email [email protected]

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