Patient story: Ann Degan

My name is Ann Deegan, and I am one of six children. Four of us have the hereditary amyloidosis Thr60Ala gene.

It was the early 90s when I first heard of Familial Amyloid Polyneuropathy. My mum had been diagnosed in St Vincent’s Hospital in Dublin and at that stage, her prognosis was guarded.

As a family, we were told very little about it apart from it could be hereditary, but no one advised us about what to do or where to go if we ever wanted to be screened for the gene.

By the time of her diagnosis, my mum was in a lot of pain and had severe bowel trouble. I have no doubt she kept a lot of her symptoms from us. We had lost our dad suddenly two years prior to mum’s passing. Thankfully, we got to mind mum at home, which was her wish.

Following her death, life continued as normally as possible in the circumstances, as my siblings and I were all married with young children. At times, I used to think about genetic testing but kept putting it off.

My older sister, Mary, was very persistent and followed her gut instinct to pursue genetic testing for herself and the rest of us. Fortunately, an empathetic consultant listened to her concerns, and searched for the evidence of mum’s tests which showed she had The Donegal Mutation of hereditary amyloidosis.

In 2018, I started experiencing a few symptoms, such as breathlessness and heart palpitations. I went to my G.P. and was referred to the National Amyloidosis Centre in London. My brother had been to the NAC in July of that same year and diagnosed with the condition. I was upset and concerned for my brother, for my own health and also for the well-being of my children.

Owing to Mary’s continued determination, they eventually gave us appointments for genetic screening. But by that time, I was having a lot of neuropathy symptoms. Before I got results of the genetic test, I had an appointment at the NAC. There, I had the usual and comprehensive tests for hereditary amyloidosis carried out, including having my genetic test redone.

On 21 Oct 2019, I received confirmation that I had the Thr60Ala gene. Although I had suspected it, I was very upset, and afraid to tell my family and my children.

I was prescribed Diflunisal and was somewhat relieved that some treatment was available. I was due to return to the NAC for a checkup in October 2020, but owing to Covid I couldn’t attend.

Then, out of the blue, I got a call from Professor Gillmore asking me if I would like to go for screening for a very exciting trial called CRISPR/ cas9, which would or could substantially knockdown the faulty transthyretin.

After long discussions with my family, I went to London, had my screening and they accepted me on the trial. I am the first human to have this infusion.

“It really is exciting,” says Professor Julian Gillmore, who is leading the CRISPR study at the University College London, Royal Free Hospital.

“This has the potential to revolutionise completely the outcome for these patients who have lived with this disease in their family for many generations.”

One year on, I am doing okay and glad there’s so much more information and treatment available now than there was for my mum..

As I analyse all of this, I honestly think that if over twenty-five years ago we had been given some advice and information on what to do or how to get information regarding genetic testing, and I knew then I had the gene, would I ever have decided not to have children so that I wouldn’t pass on the faulty inherited gene? I had my children by the time my mum died and I definitely couldn’t imagine my life without them, or my four beautiful grandchildren, now.

Thanks to science and the hard work of so many men and women, treatments have advanced beyond our wildest dreams so that our generation and our children’s children won’t have to suffer as my mum did and many more people like her.