'Our whole world was ripped apart': Wicklow family hopes to save one of two sons diagnosed with fatal condition
A Wicklow family is appealing for help after two of their children were diagnosed with a devastating genetic condition.
Leslie and Lynda Martin's son, two-year-old Cathal, was diagnosed with metachromatic luekadystrophy (MLD) last December. The condition will be fatal.
Almost two weeks ago, they learned their younger son, one-year-old Ciaran, also has the same condition.
They spoke on TV3's Ireland AM on Monday to raise awareness of the condition and appeal for help in raising money to cover a potentially life-saving treatment for their younger son.
They first noticed a problem with Cathal's development when he was 14-months-old and he had not started walking properly. In time, he was referred to specialists for genetic tests and they learned three months ago that he has MLD. Ciaran was diagnosed just a week and a half ago.
"It was very tough," said Lynda. "It took a long time to diagnose because it's a rare genetic condition, and it was hard to diagnose. There was a lot of genetic testing going on. You're waiting months for results to come back."
A silver lining of Cathal's diagnosis meant his younger brother could receive treatment in a clinical trial as he was diagnosed before he showed any symptoms.
"By the time we found out what Cathal had it was too late for him, really," said Leslie. "The treatment that we're talking about in Italy has to be given to the child before they show any symptoms."
Cathal has started to exhibit the effects of MLD.
"He's almost like an infant today," Leslie said.
Lynda added: "He's very fatigued and completely immobile. He just has little use of his hands. He has kind of gone back to being a baby."
Lynda said the diagnosis of both her sons has devastated the family. "Our whole world was ripped apart," she said.
The treatment for Ciaran is being offered without costs. However, the family need to raise enough money to cover the stay in Italy. The treatment for Ciaran will divide the family during what could be the last months of Cathal's life.
"We have to split up," said Leslie. "We have to set up shop in Italy and also here. Cathal has to be minded at home. It's unclear really how much time we have left with him and Ciaran's treatment process is six months."
Ciaran's treatment is due to start this week in Milan.
"We learned he was sick a week and a half ago, and the day after we learned he was sick we were told there was a possible, possibly glimmer of hope for treatment," said Leslie.
"The following day we had to grab our passports and we were racing around the countryside trying to get Ciaran on a plane to go to Italy. They wanted us over there, they wanted to see him."
Lynda said that as Cathal's diagnosis led to his brother's early diagnosis and treatment, he may have saved his little brother's life.
"Hopefully in Milan Ciaran will get a chance, and Cathal would have given that chance to him," she said.
Leslie hopes no other family will have to go though what they are experiencing, and said they want to raise as much awareness of MLD as possible.
"Part of the reason we're also here is to raise a little awareness about this and help some other poor unfortunates in the future if they see something amiss with some of their kids," he said.
