Family hope to save younger son with rare genetic disorder

A Co Wicklow family who face the loss of one child to a rare genetic disorder are hoping to save the life of a second, with the same condition, through participation in a clinical trial in Italy.

Leslie and Lynda Martin, from Rathnew, were told by doctors in December their two-year-old boy Cathal has metachromatic leukodystrophy (MLD). The condition, which affects the nervous system, was diagnosed too late in Cathal and his condition is now terminal.

The family are coming to terms with the fact their second son Ciaran was last month diagnosed with the same disorder. However, because his condition is at an earlier stage he may benefit from the Italian trial, which has shown to delay the onset of symptoms.

Positive outcome

Doctors have told the family Ciaran will not survive if he does not undergo the treatment. Six of nine similarly-aged children treated in the trial so far have had a positive outcome.

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Ciaran is still expected to suffer some damage – potentially, he may not be able to walk – but it could save his life.

The treatment, while partially funded, will take six months and require around-the-clock nursing care. The couple, who have three children, are planning to do two 12-hour shifts each day, seven days a week, alternating between Ireland and Italy. They have launched a €250,000 fundraising drive to help pay the costs of the care and travel.

Mr Martin said the devastating news that Ciaran and Cathal have late-infantile MLD, a rare, genetic illness with no known cure, had turned the life of his family “upside-down”.

Milestones

“Cathal was born a perfectly healthy boy in May 2014 and was reaching all his milestones like any other little child. We first noticed a problem when he was having problems walking.”

The family made multiple trips to their GP and Tallaght hospital before Cathal was diagnosed with MLD. “As a result of this illness, Cathal has gone from a fully healthy 18-month-old child to almost completely paralysed within a year and a half,” Mr Martin said.

Cathal sits in a customised, supported chair provided by Enable Ireland. His muscles are so weak he cannot feed himself, chew or swallow, and, from a week ago, he is fed through a nasogastric tube.

Rate of deterioration

Mr Martin said his rate of deterioration has been “terrifyingly fast” and he will soon lose what little is left of his ability to move or speak.

Late last month, the family learned that Ciaran also had the condition, though he has yet to display symptoms. He flew to Milan where he underwent a battery of tests before being declared eligible for the trial. The treatment in Milan includes six months of bone marrow transplants, genetic engineering and chemotherapy, and a two-month recovery phase in isolation.

Further details of the Martins' fundraising campaign are available at https://www.idonate.ie/2997_the-martin-family-.html