Health Experience: ‘At the moment Luke’s rare disease is stable but we don’t know what the future holds’

At six months, Annemarie O’Dowd’s son developed alarming symptoms and was diagnosed with cystinosis, a rare genetic metabolic disease

When he was six months old, Luke became unwell very quickly one evening: he developed a rash, was lethargic and didn’t want to feed. I called a night doctor who thought it was some kind of allergic reaction to being in the park that day. But I wasn’t convinced and took him to our GP the next morning. He couldn’t find anything wrong and thought he might have a throat infection.

I decided then to bring him to Crumlin where we were initially seen by an endocrinologist because diabetes was suspected. We were then seen by a nephrologist who suspected cystinosis straight away, and it was confirmed after blood tests a few days later.

We had never heard of this condition before, so it was a big shock. Right from the beginning Luke started losing nutrients from his kidneys – potassium, bicarbonate, phosphates – that had to be replaced, and so he was started on a lot of medication. At the same time, he was also diagnosed with rickets; he was in a lot of pain because his bones were softening.

His health was unstable for about a year and a half, and he was often sick and hospitalised. He vomited daily, sometimes in his sleep, mainly because the medication to help remove cystine from his body is very hard on the stomach, so he stopped eating and had to be tube fed.


It was very difficult but we just got on with looking after Luke and our other children. We worked hard encouraging him to eat, taking him to speech and language therapists and other appointments, and we also tried to keep life as normal as possible for the girls.

In the early days, he was very unwell and so didn’t crawl or walk at the expected age. He caught up later on but was diagnosed with dyslexia at the age of seven, which has been more of an issue for him. Luke’s health is now just a part of our normal life.

Drug study

Luke started on a new drug study at Great Ormond Street Hospital in London last September, but prior to that he needed to take medicine every six hours which meant getting up throughout the night as cystine builds up incredibly quickly in the body and medication must be taken to keep it down.

With the new trial, he has to take it every 12 hours which is a bit easier for us and him as he comes into his teens.

He takes of a lot of other medication: 37 tablets every day, plus eye drops to clear eye crystals and food supplements to help with growing. It means we are always watching the clock for medication time because some have to be given at specific times.

Despite his condition, we never stopped him from doing anything he wanted to do. He loves soccer and trains with a local club and really enjoys that. He loves films and wants to work in that area so he has already been looking up courses to do after school, even though he’s only in first year.

However, he is facing dialysis and a kidney transplant in the future as without treatment, the build-up of cystine causes kidney damage followed by failure and then death.

We don’t know when he will get a transplant but in the meantime, medication slows the deterioration process.

As people with cystinosis age, other issues such as muscle wasting also occur.

It’s really important for us that the condition becomes better known so we set up Cystinosis Ireland 12 years ago with other families to raise money for research and to support others. We have funded research to the value of €1 million in Ireland and internationally since then.

There was no research here prior to our charity but we have had projects in University College Cork and University College Dublin and are currently joint-funding research in New Zealand on gene therapy.

We’re also joint-funding a project with the University of Florida to load contact lenses with medication to help combat the crystal build-up in the eyes of people with cystinosis. The current treatment means the patient needs eye drops every hour to prevent pain and eventual blindness, so the contact lenses project would be a huge relief if it were to succeed.

Voluntary charity

Cystinosis Ireland is a completely voluntary charity with no paid staff. For the past 12 years, I have chaired the research group and work with scientists and our chief executive to find research to fund and organise administration.

We are members of MRCG (Medical Research Charities Group) where most of the other charities have full-time paid staff; we are all volunteers, so it can be difficult as we need all the help we can get with fundraising.

Cystinosis doesn’t improve as people get older – in fact, it gets worse and there is no cure – but at the moment Luke’s health is stable and I don’t ask for anything more. He is relaxed, easy-going and fun and he’s brilliant at taking his medication, which reduces the stress involved.

If only his health could stay the way it is, I would be very happy, but we don’t know what the future holds.

Cystinosis is a progressive disease but while we take every day as it comes, I’m always looking to the future by working with the charity to raise funds for research. There is no way I could just sit back and hope for the best.

See In conversation with

Arlene Harris

Arlene Harris

Arlene Harris is a contributor to The Irish Times specialising in health, lifestyle, parenting, travel and human interest stories