Little Cathal's tragic story could save countless lives
Cathal Martin's parents are fighting so that blood tests for newborns identify more deadly diseases, writes Alan O'Keeffe
Cathal Martin is just five years old and he has not long to live. But despite a deeply saddening future, his parents Les and Lynda believe he has one valuable mission to complete before he dies.
Speaking to the Sunday Independent at their family home in Wicklow town, Cathal's father Les said that his son's story is a good reason why politicians must vote to urgently expand the standard blood screening test for newborn babies to detect rare diseases.
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In Ireland, the heel prick test only scans for eight rare diseases. In Italy, the test scans for 40 diseases.
"Many children with rare diseases can survive to live normal lives if their condition is detected at birth with the standard heel prick blood test," Les said.
The same droplet of blood could be scanned for more than 40 diseases instead of just eight diseases at present, he added.
If Irish politicians pass legislation making it mandatory to test newborns for a wider variety of diseases, dozens of lives could be saved. It would also mean families being spared heartbreak and grief - and millions of euro in healthcare costs could be saved.
Les and Lynda Martin said Cathal was once a lively and witty little boy but now he is paralysed by metachromatic leukodystrophy. The rare condition occurs when a vital enzyme is not produced within the body.
As the couple cradled their son, Lynda told the Sunday Independent: "I remember Cathal being a very chatty little boy. A very witty, very funny little boy. A perfect little guy who knew his ABCs. Now he is non-verbal, completely paralysed, and is tube fed."
His tearful dad declared: "Cathal has a smile to melt his daddy's heart.
"He is just the best little boy you've ever seen. All he wanted was to have a look at his daddy's shed and to play with the tools and do everything he should be doing. But everything has slipped away.
"He is such a good little boy with such a cute little smile.
"He can break your heart and then melt it back together with a little laugh," he said.
A test for the disease is being developed that will one day soon allow doctors to administer standard screening for it. An early diagnosis gives babies a chance to get life-saving gene-therapy at a hospital in Italy.
Cathal was two years old when diagnosed but it was already too late as the disease had already fatally damaged his central nervous system.
In the same week that Les and Lynda were informed that Cathal had the terminal disease, they found out that their one-year-old son Ciaran also had the disease.
But they were offered hope for Ciaran. As he did not have any symptoms yet, he had a chance of being accepted for gene therapy in a hospital in Milan.
Within a week, the couple moved to Milan with their daughter Holly and two sons. They lived there for more than six months while Ciaran underwent treatment at the Telethon Institute for Gene Therapy at San Raffaele Hospital.
The therapy involved extracting bone marrow and stem cells and inserting a gene into the material's genetic coding to produce the enzyme that Ciaran lacked. They then re-introduced the engineered genes into his body.
Ciaran's body now produces this important enzyme. The disease was halted but it had already inflicted some brain damage and nerve damage which means Ciaran needs leg splints and a frame to walk - but it is hoped he will live a full life.
The couple learned that Italian law was changed to expand blood screening for newborn babies from four to 40 rare diseases. Hundreds of lives were saved as a result.
Les and Lynda began campaigning, with the written support of the Italian health authorities, for an enhanced blood screening test for newborns in Ireland.
They wrote to all members of the Oireachtas seeking a new law to expand blood screening for babies so that more rare diseases could be treated before they inflicted irreparable damage. They followed up their letters with information from the US and Italy.
Senator David Norris was the most emphatic in supporting the couple's aims and he successfully proposed a motion in the Seanad on July 10 calling for legislation for expanded blood screening for newborns which won cross-party support.
Wicklow Sinn Fein TD John Brady ensured a Fianna Fail Bill on maternity services included a special amendment on expanded infant blood screening which won the support of the Dail.
Health Minister Simon Harris visited the Martin family in their home. Since then, he has spoken to the Italian health minister on the issue and he will send a delegation to Italy to avail of Italian expertise on expanded infant screening.
Les and Lynda are anxious that legislation is drawn up and passed urgently so that newborn children with rare diseases are diagnosed in time to potentially save their lives.
The couple's six-year-old daughter Holly calls Cathal and Ciaran by the special names 'Cogs' and 'Kiwi'. Facebook pages entitled 'Cogs and Kiwi' and 'The Martin Family Trust' detail the family's ongoing campaign.
Les, a native of Rathnew, Co Wicklow, is a civil engineer and Lynda, from Ferns, Co Wexford, a nurse.
Their happiness "evaporated" when their sons were diagnosed with the rare disease. They both gave up their jobs to become full-time carers for the boys.
They are grateful for the support of their family, friends and local communities in Rathnew and Wicklow, medical and nursing teams in Ireland and Italy, the Jack and Jill Foundation, Enable Ireland, and people who assisted fundraising.
They appreciated the kindness shown to their children by President Higgins during a visit to Aras an Uachtarain. They were also grateful to Pope Francis who met the children both in Milan and Dublin.
Senator Norris said: "This is one of the most important issues I have raised in the Senate in the past 32 years.
"As a result of the debate, we may have an opportunity to save the lives of up to 50 newborn babies a year.
"There is a need for an expanded national screening programme and for laws to protect children from these very difficult situations. At the moment, eight diseases are screened for in Ireland. In the US, the number is 35. Italy increased the number from four to 40.
"We can do the same to help these children. The cost would be €3.5m in a year but it would save hundreds of millions of euro in treatment costs.
"There are 62,000 children born in this country every year. One in 1,250 will have a rare disease. The HSE says that it is possible to implement this immediately, so let us do it. Without Les Martin and his family's campaign, none of us would know about this," he said.
Les said: "Our sole objective in going public is to cement progress that has been made and that all politicians will read this and the penny will drop with them that this concerns children, not numbers.
"Waiting to make changes has consequences. We have to force the issue as parents, and patients and kids are going to suffer if this isn't acted on immediately and put to bed.
"We need expanded newborn screening as soon as possible and more support for the thousands of families that experience rare diseases," he said.
"The Government must continue the momentum. With cross-party support it will sweep through the Dail. It's a no brainer," he said.
Les and Lynda believe Cathal has given them strength to be advocates for children and families with rare diseases. "I hope the law is changed and that it will be a tribute to Cathal's life and the hardship he endured with a smile on his face," Les said.
Health Minister Simon Harris told the Sunday Independent: "A national screening committee will be established this year. I appointed Prof Niall O'Higgins as chairperson.
"While I respect completely the independence of the committee...I asked that, as part of its initial body of work, it prioritise the national newborn blood-spot screening programme and look specifically at how Ireland should best proceed with an expansion.
"I am pleased Prof O'Higgins has agreed... Our learnings over the last few years has demonstrated how complex screening programmes can be and decisions need to be made only after a detailed review.
"It is important that the independent expertise of the National Screening Committee advises me and the HSE on the commencement or expansion of any population screening programme."
■ Details of the family's campaign are on Facebook page Cogs and Kiwi and iDonate.ie/the Martin Family Trust. A rare diseases group welcomes contact from families seeking support and information at email@example.com.