Redlynch man Vince Nicholas talks of battle with Amyloidosis

Vince Nicholas has transthyretin-mediated (ATTR) amyloidosis, which causes a build-up of abnormal proteins called amyloid in the body.

The 61-year-old has been sharing his story to mark Rare Disease Day (Sunday, February 28).

What is Amyloidosis?

Amyloidosis is the name of a group of rare and serious conditions caused by a build-up of an abnormal protein called amyloid that deposits in organs and tissues around the body.

This build-up of amyloid makes it difficult for the major organs and tissues to work properly and without treatment it can lead to organ failure and death.

There are several kinds of amyloidosis - Light-chain (AL) amyloidosis is the most common type, and transthyretin (ATTR) amyloidosis often runs in families – as in Vince’s case. About 400 people in the UK have this type.

It is characterised by nerve and organ damage with day-to-day symptoms including diarrhoea, weakened eyesight, loss of feeling in the hands, feet and legs as well as chronic pain and numbness.

Living with a rare disease

Vince is unable to do certain things - he says he has to use a stick more to get around and has problems with the stability of his legs as well as his hands, which makes it difficult to write and grip things. 

He had to give up his job as a contract manager for a digital broadcasting company in 2017 due to the Amyloidosis.

"It is very life-changing and it tips your life upside down.

"It took me a good five years to get my head around the fact I can't do things that I used to do and have to rely on others to do things for me.

"At the end of the day you have got to accept it; you can't fight it. But also you have to think about strategies and how you can have a quality of life."

"Always try to be positive, I know that is very hard for many of us but you have to look at that and see how you can help others in a similar experience to have a quality of life," he continues. 

"There is always somebody else far worse off than me. It could be far worse. Even though what I've got is a kind of terminal illness and with the new drugs it's not a cure; it is something that slows things down."

Devastating impact on family

The disease has had a devastating impact on his family, his mother Lillian died of it aged 66 in 1991 as did her five siblings. His grandmother Edna also died due to the disease.

Vince’s twin brother, Keith, died from it in 2015 at the age of 56. Both he and Vincent received a liver transplant in 2010 which was experimental in the treatment of amyloidosis at the time.

Neil and Vince 

Their older brother and younger sister do not have the disease.

This is a picture of a wedding party, which was taken in 1968. 

Of the 24 people in the photo, 20 are members of Vince’s family.

Out of these 20, only two do not have the disease and survive today. The others have either died or are living with the direct results of the rare disease ATTR Amyloidosis.

"It has decimated my family over several generations," admits Vince.

After his mother, Lillian, had been diagnosed, Vincent and his twin decided to have a blood test to see if they had the transthyretin (TTR) gene mutation to see if they too had amyloidosis, which they did.

Thirty years on, Vince and his younger brother Neil continue to suffer the effects of ATTR Amyloidosis.

Treatment

There is currently no cure but in 2019 the National Institute for Health and Care Excellence (NICE) recommended the use of patisiran on the NHS in England to treat the disease. Prior to this there were few treatment options.

Patisiran has helped slow down the progression of Vince’s illness, as it has for his younger brother Neil. It helps in reducing the production of an abnormal protein that damages nerves and organs across the body.

Through the National Amyloidosis Centre – now based in the Royal Free Hospital and part of University College London Centre for Amyloidosis and Acute Phase Proteins and supported by the NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust – Vince was able to take part in a clinical trial of the drug for six months before it was licensed through NICE. The drug then became available through the NHS.

Another drug, inotersen, has also been licensed for the treatment of amyloidosis following clinical trials.

"Having the new drugs have given people hope not just for me but other patients and doctors. That is very key to have hope that these things have come along," explains Vince.

He says he is thankful the amyloidosis was chosen to be the focus of the drug trial, which he was able to take part in.

Supporting others

Vince is part of the UK ATTR Amyloidosis Patient Association.

"I do spend a lot of time supporting other patients in the community and all around the world now since lockdown.

"We've been able to talk to people all over the world about amyloidosis and keep people up-to-date and talking to people one-to-one. I've find my niche really."

He also works with the National Amyloidosis Centre and talks to patients who have been recently diagnosed about his own experiences as well as speaking at medical conferences.

He says he feels "privileged" to be able to help others and admits it feels like "something I was meant to do".

Vince is urging people to not be afraid to talk to others and share what they are feeling.

Time to diagnosis

Vince says diagnosing the condition can take time and would like to see this improve.

"Time to diagnosis for a lot of patients is still very slow because it is quite a rare disease still.

"Some people it can take up to two years to get diagnosed and by that time they have got symptoms, which will either get worse or stabilised.

"Trying to catch somebody with this disease at an early stage makes a huge difference to their longevity with the disease."

He is working with the patient association to raise this as well as work is also being done with doctors and nurses.

"They are at the ground level when patients come in and if they know what to look for.

"It can get missed because a lot of the symptoms you get are associated with other things.

"It is not until you join the dots up you realise you could have amyloidosis."

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