Living with a Rare Disease: Caring and Advocacy – An Interview with Les Martin
To download this article along with the full June 2020 edition of Intercom, click the link: June Intercom 2020
CHRIS HAYDEN: Les, please tell us about the medical condition of your boys, Cathal and Ciaran.
LES MARTIN: The boys have a rare, genetic condition called metachromatic leukodystrophy, MLD. It occurs in about one in forty thousand here in Ireland. Lynda and I are both carriers, and when our genes are put together there is a one in four chance that our children will have it. Holly, thankfully, hasn’t got the condition, but both of the boys have. It means that they are missing a very simple enzyme that helps to clear out some of the bad stuff in the system. This results in the white matter in the brain and the myelin sheet that’s around the nervous system beginning to break down very slowly.
As was the case with Cathal, it’s very hard to diagnose or detect. When he was about two years of age, we noticed that he wasn’t quite walking or developing as well as he should have been. We brought him to the doctor first when he was about fourteen months old, and he was two and a half by the time he was diagnosed. By that time, he was clearly getting much worse. He had been walking a couple of steps while holding our hand, but he lost the abilities he’d acquired in the first few months of his illness. Once kids have symptoms, it’s too late. It’s a terminal condition, and that’s Cathal’s lot at the moment.
Having found out what was wrong with Cathal, we had Ciaran tested. He was showing signs of the disease and was only nine months of age when we found out he had it too. Within one week, we got a terminal diagnosis for both of them, but that came with the hope that Ciaran might have a chance if we went to Italy. A few days later, we went to Italy, where he was to be assessed for a trial therapy. We spend several months in Italy, where Ciaran was in isolation in hospital. The whole family went, even though we thought that Cathal was nearing the end. I have four older sisters, and between them and Lynda’s family, they took turns so that there was one person with us continually.
We were doing twelve-hour shifts with Ciaran, who was having chemotherapy and stem-cell treatment. Meanwhile, Cathal was in the hotel room and he was very ill. But the Italian doctors were fantastic and they helped us with Cathal’s care as well as Ciaran’s. It’s a very rare condition and there’s not much knowledge of it here in Ireland – there is more expertise in Italy.
CH: It’s a terminal condition. What are doctors saying to you at the moment?
LM: Initially, here, we were told that the boys didn’t have long. In Italy, they were talking about five to ten years. Ten would be the upper limit. Cathal will be six in May, Ciaran was four just last week. Holly turns eight in August.
CH: When I came into your home earlier, the first person I saw after Lynda was this lovely little child. He looks so serene and he has a radiant smile. And he takes all your time and energy.
LM: He’s always been like this. He’s completely dependent, but he’s still there. He has a great smile and laugh. He wriggles around in the chair. As you can see, he’s content.
CH: Are there times of distress?
LM: He has a share of discomfort. He’s on a huge amount of medication throughout the day, his whole system is slowly shutting down. A cold or a chest infection would be a big deal for Cathal, but he’s proving everybody wrong, and he’s here, listening to every word I’m saying …
CH: Does faith play a role in keeping going?
LM: It does, Chris. The loss we were delivered shakes everything you think you believe about anything. I was raised in a traditionally Catholic family, but I have a more worldly view of how faith is applied. That doesn’t mean I don’t pray. I’ve been at rock bottom many times, where praying is the only thing you can turn to. I don’t feel able to summarise my beliefs, but I struggle to accept what has happened to our family. I’m not naïve – the world is like that. There are people in worse situations. It may be that by thinking too much, by trying to reason it, I’ve robbed myself of the strength people can get from faith. But certainly, I have a faith in something more than what we see here in front of us.
From travelling, I’ve been struck by the diversity of different faiths that seem to work perfectly well for the people who practice them. On the other hand, maybe it’s possible to rob yourself of the real strength of faith by not engaging fully with any one kind of faith. Our local priest here, Fr Donal Roche, and Harry Casey, have been fantastic, particularly at the time of my father’s death, and in setting up the meeting with the Pope. I sort of drift in and out, in terms of how much I get from faith.
CH: Do you find that the community aspect of support is more tangible?
LM: Our families have been a huge help. Also, when we had to leave for Milan, in an emergency, we needed to raise some funds. That was done for us in a heartbeat, while we were in Italy, by the people here. I’m so grateful for that. The families with children on Kieran’s treatment programme come from all over the world, as the Italians have made the treatment available to everyone. There are families from much less fortunate circumstances – families from Syria, the Lebanon, Algeria, who don’t have the same support from home that we were able to bring with us.
CH: Tell about your advocacy work, Les. What exactly are you advocating for?
LM: MLD is a terminal condition if it’s not caught early. Work is being done on screening for new-born children that would identify the condition at birth, when it can still be treated. In Italy, a couple of years ago, the number of conditions screened for was increased from four to forty. This saved the lives of 350 children, a figure which does not include children with MLD. For MLD, the screening is only being trialled. I’ve been advocating for wider new-born screening here, and in that, I’ve had a lot of support and very compelling information from the Italian system. The advocacy is going very well at the moment. The Minister for Health has appointed a committee to look at new-born screening and they will soon be making recommendations. I hope that within this year, we’ll see a major expansion of our new-born screening programme here in Ireland. This will save lives, and Cathal’s life will have been a valuable part of that.
CH: That will be quite a legacy, God willing.
LM: Yes, that is what I’m hoping. We met Pope Francis twice. While I’m not a deeply religious person, I think this has been a bona fide miracle. On both occasions, I asked the Pope to save Ciaran’s life. We first met the Pope on our second day in Italy, before Ciaran started the gene therapy programme. We went to a children’s Mass in the football stadium in Milan, that the Pope was celebrating. We had a ticket to sit in the crowd, which we did. Lynda and I were like two ghosts, having been given the news we’d received, then landed in a foreign country.
At the end of Mass, I could see sick people, some in wheelchairs, lining up to meet Pope Francis. I took Ciaran in my arms and headed towards the line, chancing my way through several checkpoints. One security person understood when I explained my situation; he took my arm and walked me through security, as far as the Papal Guard, where we were stopped and told we couldn’t go any further. The man with me spoke to the Guard, who walked of and returned a moment later, took me by the hand and walked me right on to the pitch.
We were among the first people to meet the Pope. I asked him for a miracle, that somehow all this suffering could be made worthwhile. If it turns out that Cathal’s life, and our advocacy, means that, say, fifty families will be saved from what we have been through, then that will have been miraculous, and I’ll be happy that we’ve had him for the length we did.
The second time we met the Pope was when he was here in Ireland for the World Meeting of Families. Harry Casey got us a ticket for the celebrations in Croke Park. We were sitting quite close to the stage, and by that time I had a few words of Italian. I spoke to one of the Papal Guards, telling him that my two boys were very ill and asking if we could have a word with the Pope before he left. The guard gave me a wink and we were brought to the Pope just as he was getting into his car. I told him I’d met him before and asked him for miracles for my two boys, but that they hadn’t happened yet. He prayed with us again. As I’ve said, I’ve never been a person of great faith, but I’m sure there’s some significance to the things that have happened to us, and I’m confident that Cathal’s life will be for the good of other kids, yet to be born.
CH: Have caring and advocating led you to see society in any different light? Are we more caring or less caring, more selfish or less selfish, seen through the eyes of a family struggling with the illness you’re struggling with?
LM: Lynda and I have the normal stresses and pressures of life – two jobs, three kids, a mortgage. I don’t want to be flippant about that, but when your world dissolves in front of you, that gives you a sense of perspective that you don’t get from everyday life. Our values have certainly changed. I’ll use my time as well as I possibly can and will continue what I’m doing until the day Cathal is gone. I have seen great support from our community, and I’ve found great compassion as I’ve been on this campaign, even while trying to get the ear of officials and various people. When I’ve told my story, as I’m telling you now, people immediately have compassion and a desire to support. I think that people are, by nature, selfless. Society pits us against each other to some extent, and in order to get along in life, you have to be selfish to a degree, but I can’t speak highly enough of everybody who’s tried to help us, and I have a great appreciation for those who work in any kind of caring role – whether it’s people like yourself, the nurses and doctors… all those who care and who use well this short life that we all have.
I’m a member of the National Rare Disease Task Force, and I’m working with Rare Disease Ireland. There are thousands of rare conditions, and that means a significant number of people here in Ireland who have rare conditions and are poorly served by available resources. This is the drum I have been banging for the past year, and I believe, now, that the support is forthcoming.
My heart was broken when I learned that they were doing something in Italy that could save the lives of fifty children per year here in Ireland. I don’t see the number fifty: I see fifty little Cathals.
Overall, there’s been slow but positive progress. We’re not there yet, but we’re getting closer.
CH: What are your hopes for the future?
LM: My biggest hope, what I pray for, is that Cathal goes comfortably when it’s his time, and that Lynda and I can bear that. Of course, we also hope that Ciaran will stay well, that he will grow up, that he will experience life. I have no great ambitions other than to see our family emerge from what we’ve been through.
I wanted to be sure to mention that anyone affected by this or any rare condition, or any of your readers who know someone in that position, might like to engage with the parents’ support group, Rare Ireland. At the moment that’s a Facebook page, but they are developing a website and registering as an official charity. A second organization, Rare Disease Ireland (www.rdi.ie), works at a higher level, to influence policy, but they’re also a source of information and support for families affected by a rare condition. People might also like to look at our Facebook page, Cogs and Kiwi –
See also, https://youtu.be/T2gixFpltvc;