Finding new ways to live with Fabry
‘We don’t know who most of the patients with Fabry in Ireland are, so we want to build up awareness and be in a position to support them’
Fabry disease is a rare condition where the body does not break down a particular type of fat, which then builds up in cells of blood vessels and organs
Eight years ago I met Colin O’Reilly in Dublin. He spoke to me for a piece in The Irish Times about a rare condition called Fabry disease, where the body does not break down a particular type of fat, which then builds up in cells of blood vessels and organs. O’Reilly is one of about 60 people in Ireland with Fabry disease, and three of his maternal uncles also had the inherited condition.
For O’Reilly, Fabry has meant intermittent pains in his hands and feet since childhood and heart palpitations from when he was a teenager. More recently it has led to kidney damage and a thickening of his heart muscle.
Life on dialysis
When we met in 2011 O’Reilly was having fortnightly enzyme infusions, he had finished his studies in college and was working as an environmental engineer. Today he still has the infusions and he is still an environmental engineer, but a couple of other things have changed. He is now married, and he also has a new kidney.
“I have routine monitoring of my kidneys in Beaumont Hospital, and in 2015 they picked up that one of my kidneys was starting to fail,” says O’Reilly. “By 2017 it had gone down to 5 per cent function, so I started peritoneal dialysis at home.”
In practice that meant receiving deliveries of fluid-filled dialysis bags to his house each month, and hooking himself up to a bedside machine each night.
“Each evening I would put bags containing 10 litres of saline solution on the machine and then connect it up via a port which had been installed near my belly button. The machine then pumps in two litres of clean fluid, lets the exchange happen over two hours, then withdraws the waste. This would happen four times over the night.”
At first O’Reilly found it difficult to sleep during the process. “After three nights I rang the hospital and said this was just not for me. But they assured me I would get used to it, and I did. It was still a chore, though. In the morning I would feel better, but then by about 3pm the effects wore off. By the time evening came around I would be exhausted, but then the cycle of getting set up for the next night would start again.”
Fortunately the call for a kidney transplant came relatively quickly. “It was early January. I got a call from the hospital, and they said to walk out of whatever I was doing at that moment and get to Beaumont. I was there in half an hour, and I was out five days later with a new kidney.”
O’Reilly is grateful to the donor and family. “Myself and another person each received a new kidney thanks to their kindness. And the system in Beaumont really is excellent, that kidney is working brilliantly for me now, and I was glad to get it quickly. I still get quite emotional about it. The few years of having poor kidney function had been a struggle.”
O’Reilly still experiences pains in his hands and feet, and takes painkillers each week. he is continuing the enzyme replacement therapy. “The therapy can’t stop the fat deposits 100 per cent, but it can slow the disease. I still have to be monitored by different teams – for my kidneys, my heart and the Fabry disease itself. Because I have a rare disease it means attending a lot of different teams.”
Since 2011, O’Reilly has seen encouraging changes in the support for people with rare diseases, but he wants to push for greater momentum.
“There is more of an emphasis on patient involvement, and we have seen the National Rare Disease Plan published for Ireland. This is important because even though each disease is rare, there are thousands of rare diseases, so collectively there could be hundreds of thousands of people in Ireland who are affected by rare diseases in their lifetime.”
O’Reilly gives a lecture about his experience of Fabry disease to medical students each year at University College Dublin, and he is involved with Fabry Ireland.
“The focus of the patient group right now is to create a forum for common concerns and sharing information. This will hopefully involve bringing different Fabry experts over to talk in Ireland and assisting patients who want to attend conferences overseas. We don’t know who most of the patients with Fabry in Ireland are, so we want to build up that awareness and be in a position to support them.”
This month O’Reilly will also take part in a patient panel at the Irish Pharmaceutical Health Association annual conference at Croke Park on Thursday, November 21st. The conference will also debut the the Innovate for Life mini-documentary featuring kite surfer and diabetes patient Eoghan Quinn and psoriasis patient Caroline Irwin, which highlights the impact of medicines (more info and tickets at ipha.ie).
“It’s important to get involved, to go and meet different pharma companies and let them know about yourself and your condition,” O’Reilly says. “New treatments are being developed all the time, and we need people with rare diseases to be involved with the relevant clinical trials that should ultimately enable them to access newer more effective treatments.”