Reading about it made me get sick

MY HEALTH EXPERIENCE: Colin O'Reilly.Fabry disease affects the kidneys, heart and skin

IF I didn’t have a family history of Fabry disease, I don’t think I would know that I have it. It’s an enzyme deficiency which means fats accumulate in your tissues. It’s a rare condition – I think 15 families in Ireland have at least one person with it – and in my family I have it and my mum’s a carrier.

The most affected organ is the kidney, that’s usually the first one to fail. And if the kidneys don’t get you, then it’s a heart problem or stroke – that’s the way I consider it.

When I was very young, I complained of pains in my fingers and toes – they felt like they were burning. Mum would wrap ice around them just to keep them cool.

She had found out she was a carrier around the time I was born. Three of her uncles died of Fabry, and it was explained to her that if she had a son there was a 50/50 chance that he would have the disease.

So when I was three and started complaining of these pains in my hands and feet, she figured I had it.

Mum knew there was no treatment at the time, so she took the burden on herself and asked our GP in London, where we lived until I was 18, not to tell me what it was. It was a lot harder on Mum than on me.

When I was about 14, I started getting palpitations – if I ran up the stairs too quickly, I’d get a fluttering heart. It was because of an unusual nerve pathway on my heart, which is related to the Fabry disease.

And I don’t sweat – the lipid accumulates in sweat glands – so sport in hot weather is a no-no, I would get really red. And I had stomach problems.

Then, when I was in final year in college in University College Dublin, Mum said to get a blood test done, she thought it was time to start keeping an eye on things in case I started developing kidney problems like my uncles.

Two weeks after the blood test, I got a letter from Beaumont , saying I had an appointment with a nephrologist, and I thought, how did this all happen?

Then Mum told me I had this Fabry disease thing, and that’s what this had been about all along. It was hard on her.

I was beginning my PhD at the time and, even though I was doing engineering, the medical library was in Earlsfort Terrace too. I went digging for a day into every journal I could find, to see what Fabry disease was.

I was reading, the life expectancy is 42, your eyes fail, this is a picture of a kidney biopsy . . . I’d read a bit then I’d go out and get sick, then read more and then go out and get sick again.

I went to Prof Eileen Treacy , and there’s a whole raft of tests they have to do to get the official diagnosis, including a kidney biopsy, a skin biopsy and a DNA test. They got all my heart records then, and set up a meeting with a cardiologist.

I have zero levels of the enzyme, so I get treatment every two weeks at home, and I’m at the stage where the nurse starts the drug infusion and leaves, then I text her three hours later when I am finished.

I understand the whole cost of research and developing this drug, and there are so few people who need it, so it’s going to be expensive. But it’s priced beyond the individual’s means. The last I heard it was €5,000- €10,000 per infusion.

The doctor applies for treatment on a case-by-case basis and I had to write a letter to the Department of Health outlining where I was.

Mum is on the same treatment, but she had more trouble getting funding due to the budget, because she is older.

It shouldn’t be anyone’s decision, it should be a policy; once you get diagnosed, you get treatment. We need a formalised structure.

I try to keep my own records and I go to as many meetings organised by IPPOSI between patients, pharma groups and medical professionals as I can.

My sister and I also developed a website, fabryireland.ie, for the information I had collected from journals and attending conferences.

We need a formalised structure for access to treatment. Ireland and all other EU states need to have a rare disease strategy in place by 2013, and the Europlan project is working to identify what should be in a rare diseases national plan, such as a centre of excellence where your consultants are in the one place, or they are in close proximity to each other.

Patient empowerment is important too, and also research, which is something I am trying to push at the minute, but I seem to have hit a brick wall with ethics and collecting patient data.

Having looked into Fabry’s, I’m pragmatic. I say, “Okay, what’s next?”

I’m working as a consultant hydrologist now, I run and I play canoe polo, I go for check-ups, the treatment works. So you just kind of tweak things to suit you and you get on with it.

In conversation with CLAIRE O'CONNELL

Fabry disease: What is it? - Prof Eileen Treacy

Fabry disease is a genetic condition caused by deficiency in breakdown of complex fats resulting from a missing enzyme (or catalyst) in the body.

Consequently, there is a progressive build-up of these fats since birth in the body’s tissues, with detrimental effects to many functions predominantly affecting the kidney (causing chronic renal failure requiring dialysis and kidney transplantation), the heart, nervous system (to include nerve pain which can be very severe), blood vessels, gastrointestinal tract and skin.

This condition is inherited through the female line. Males are more severely affected; females may range from having no symptoms to rarely being as severely affected as males. There are at least 15 known families in Ireland with this condition, with probably a significant number of undiagnosed cases.

Replacement of the missing protein (enzyme) has been available in Europe with two similar products since 2002. This treatment is now well established in Europe for patients who fulfil the internationally approved guidelines.

Prof Eileen Treacy is metabolic consultant at Temple Street Children’s University and Mater Misericordiae University Hospitals