Wicklow father of three Les Martin is continuing his campaign for newborn screening expansion, which could save 50 babies a year in Ireland.
Both of his sons, Cathal (Cogs) and Ciaran (Kiwi), have been diagnosed with Metachromatic Leukodystrophy (MLD). Cogs was diagnosed when he was aged two and a half. Kiwi was also tested for the condition aged nine months. However, his condition was detected early, and he received potentially life-saving support over in Italy in 2017, which greatly benefited him.
Sadly, the condition wasn't detected in Cogs early enough. His parents were told he might only have months to live but he is still fighting on three years later.
Les has been calling for the expansion of the Newborn Screening Programme to include more rare conditions after the family took a trip to Italy so Kiwi could be a part of a clinical trial therapy for MLD which proved a success.
Les explains: 'Under the law in Italy any newborn child has the right to be screened for any conditions that has treatment available. They have 40 conditions they can be treated for and that number is growing all the time. An extra 350 children are being treated per year since the introduction of the law. In Ireland newborns are only screened for eight conditions, which is very low. The average in Europe is 22 conditions. I wrote to all of the politicians, the HSE and President Higgins - basically anyone I could think of. I also started an online petitions which collected over 10,000 signatures in a very short space of time. John Brady invited me to talk in the Dáil. Afterwards I was approached by a number of politicians, including Senator David Norris.
'The issue has since been raised in the Dáil by Deputies John Brady, Pat Casey, Minister for Health Simon Harris and Stephen Donnelly. It was also debated in the Seanad for over two and a half hours before being passed unanimously without any need for a vote.'
New legislation has been drafted by Senator David Norris but its introduction seems to have stalled with the elections taking place and a possible change of Government.
'I'm just very keen that we don't lose any of the momentum we have built up,' says Les.
'But I am encouraged by the progress I have made. I know things take time but there are children born every week in Ireland with conditions that aren't being tested for. It's not something I can just forget about.'
The National Screening Advisory Committee (NSAC) was established as an independent advisory committee and will advise the Minister and Department of Health on all new proposals for population-based screening programmes and revisions to existing programmes. The inaugural meeting of the NSAC took place in November of last year.
'I'm thankful for the support of all the Wicklow TDs and hope any new Government will keep up the progress that has been made,' adds Les.
He is also extremely grateful to the support offered from Irish President, Michael D Higgins, with the whole family visiting Áras an Uachtaráin, including Holly, the sister of Cogs and Kiwi.
'President Higgins has been very nice to us. He invited us up to Áras an Uachtaráin and spoke to use for over an hour. I have also been working alongside other rare disease advocates. It's Rare Disease Week at the end of February and President Higgins has invited us and around 50 to 60 other families to Phoenix Park for Rare Disease Day.'
Les believes the success of his campaign will be Cathal's lasting legacy in helping to save the lives of other Irish children.
'It's amazing how one little boy can change so much for so many. 50 children a year could be saved with proper screening and that will be Cathal's gift to the world. He showed us that Ciaran had the same condition and helped save him too.'
Les also wants support and a budget for the HSE Rare Disease Plan and a genetics service without the 12-month waiting list.
'I would also ask the Government to support the 300,000 people in Ireland with a rare disease. The plan has been allowed to sit idle by the past two Governments. But following our requests Sinn Fein and Fine Gael have included it in their manifesto. New born screening needs to be expanded and the Rare Disease Plan needs to be implemented. We also need a functioning genetic service without huge waiting times. I would ask people to take time to remind politicians of these three items. People have been so good to us in Wicklow but this is above politics. This is about children's lives and their well-being.'