Don’t live with the pain and discomfort: how to manage ATTR amyloidosis

John Wilson

Amyloidosis Patient

It’s important to educate people about ATTR amyloidosis because the symptoms are not always obvious.

I’d never heard of amyloidosis until 2020 — I became unwell at work. I initially thought I was having a heart attack.

In August 2020, I met with my consultant who informed me of the diagnosis. To determine what type I had, I went through several blood tests, and this included genetic testing. We waited up to nearly 10 weeks for the genetic blood results which confirmed I had the hereditary type.

Watch out for symptoms

In November 2020, I was referred to Dr Emer Joyce, a cardiologist with a special interest in amyloidosis. I met with Dr Joyce who confirmed I had amyloidosis which was affecting my heart, joints and nerves.

It was at this point we realised that I had symptoms for a lengthy period of time which included severe joint pain in hips, shoulder and feet, reduced feeling from the knees down, tiredness, weight loss and shortness of breath on occasion.

My blood work was improved immensely, and the treatment improved my quality of life.

Understanding the symptoms of this condition is important. People may look at me and say “he looks great” when they have no idea that it took me 20 minutes to put my socks on this morning or that I had to stop what I was doing to catch my breath.

Better life with treatment

After several months of information-gathering, doctors visits and cocktails of tablets later, in May 2021, I was told that The National Amyloidosis Centre had advised I may be suitable for a drug trial taking place mid 2021 that involved gene editing. I went over in June for assessments to see whether I was a suitable candidate, and to our disbelief, I was. I went in for review every month, then visits became more spread out.

My blood work was improved immensely, and the treatment improved my quality of life. I continue on medication for my heart and the neuropathy (pains). The symptoms vary at times and can be worse or better. I have improved feeling in my legs and feet now, too.