My name is James Green. I am from Burt, Donegal and I have Donegal Amy.
There is now such great hope hereditary amyloidosis will become a disease of the past.
When my aunt Polly died I was only 15, but I remember lots of relatives having discussions and saying how her variety of symptoms had baffled doctors and they could not diagnose what was wrong with her. Some years later, Polly’s illness was given a name, albeit with a sting in its tail—it was hereditary.
It is a terrifying condition to be worried about. I have seen with my own eyes what it can do to a person. There were no treatments for it.
It was heartbreaking to know of the suffering of my cousin, Stephen Doherty and I am deeply moved when I think of what he had to endure and him dying at 58, the same age as his mammy.
Everyone in the family was aware of the terrible time my uncle Hugh, Rosaline’s father, had of it too.
Then I heard Rosaline was diagnosed.
For our family, as with the other families who are affected, there has been no respite from Donegal Amy.
It’s a recurring theme in our lives and has been for decades, affecting several family members in each generation.
By the time I reached the age of 50 I was searching the internet to learn more about the condition.
My mum, Dympna, was the youngest in her family of thirteen children.
She was displaying symptoms like shortness of breath, intermittent carpal tunnel syndrome, insomnia and weakness of the legs.
Hours of research suggested to me I too had symptoms that were typical of early onset of the condition.
I had a strong suspicion that both my mother and I had inherited the rogue gene known in the case of our family, as the variant hereditary amyloidosis Thr60Ala.
Mum did not wish to know if she carried the gene, and I respected her wishes.
My mum passed away on 20 September 2019, aged 74, from cancer.
By mid-2020, I had the genetic test, cardiac tests and nerve conduction studies, which confirmed I had inherited the mutant gene from my mum. They found amyloid deposits in my heart and the nerve conduction studies on my legs suggested stage 1 polyneuropathy.
Last Autumn, Intellia Therapeutics, a US based pharmaceutical company, announced it was beginning a gene editing trial of CRISPR-Cas9 for hereditary amyloidosis. It was the first time anyone had attempted to edit cells in the human body.
Shortly after my diagnosis, I was very fortunate to be accepted into Phase 1 of the trial.
In January 2021, I attended Richmond Pharmacology in London under the watch of Professor Julian Gillmore from the National Amyloidosis Centre.
The drug is designed to edit the transthyretin (TTR) gene in liver cells to reduce significantly the production of misfolded TTR protein, which can accumulate in tissues throughout the body.
Not only am I excited to think that hereditary amyloidosis will be a disease of the past, I am also excited to help raise awareness and help other people be aware of the condition.
For most of my life, no-one outside my family appeared to have heard about hereditary amyloidosis. There was no-one to talk to.
It’s great we now have our ATTR Amyloidosis All Ireland Support Group, where we can share information and our individual experiences of living with Donegal Amy or other types of ATTR Amyloidosis.
There is much work to be done, but one immediate wish would be that genetic testing is more easily accessible for those who want or need to avail of it.
So many people have contacted me as they have don’t know where to start.
For a progressive illness that demands access to best treatments at the earliest opportunity, any delay is most unwelcome.
It would be a sorry state of affairs if a person’s health and quality of life declined while they are caught up in trying to get this testing, which involves only a simple blood test or saliva swab.
I am grateful to be receiving treatment at a relatively early stage of Donegal Amy and hope that as many people as possible get a similarly early diagnosis.
I’ll continue to do all I can to help that become a reality.