Northern Ireland news

Generous Irish News readers boost efforts to fund life-saving surgery for Co Antrim toddler

Xavier Rynkiewicz from Lisburn, Co Antrim was born a healthy baby in November 2017 at the Royal Victoria Hospital, before suddenly becoming ill at eight months old

GENEROUS Irish News readers have more than doubled the number of donations to a last ditch effort to fund life-saving gene therapy treatment for a gravely-ill toddler.

Xavier Rynkiewicz from Lisburn, Co Antrim was born a healthy baby in November 2017 at the Royal Victoria Hospital, before suddenly becoming ill at eight months old.

Following six months of tests doctors told parents Marta and Emil he had the first case of genetic neuromuscular disorder Spinal Muscular Atrophy (SMA) type 2 to be diagnosed in Northern Ireland for 10 years.

The disease affects motor neurons in the spinal cord causing progressive muscle degeneration and weakness, leading to problems walking, breathing and swallowing.

Within hours of his story appearing in the Irish News on Thursday, more than £1,000 had been pledged by dozens of well-wishers touched by his plight.

His parents and 10-year-old brother Nicolas were told the bright and engaging toddler was unlikely to live past his second birthday.

Xavier's condition has been stabilised by the drug Spinraza and daily physiotherapy which the parents save every penny to pay privately for.

However, they do not know when funding for the treatment will run out and are pinning their hopes for radical gene therapy Zolgensma, which has been approved by the European Medicines Agency.

Already in use in the US, it was passed for in use in the EU in May after a study showed a one-time infusion can improve survival in patients, reducing the need for a permanent ventilator and helping children "reach development milestones".

However, it is not funded for use in Northern Ireland and, although treatment in another European country is significantly cheaper than the US, the family need to raise £2 million and time is running out - the initial delay in diagnosis means he may only be eligible for another four or five months.

"This is the only chance for Xavier, but there are weight restrictions to deliver the gene therapy," his mother Marta Rynkiewicz said.

"The child has to be less than 21kg to get the treatment and Xavier is 16.7kg already."

The disease affects motor neurons in the spinal cord causing progressive muscle degeneration and weakness, leading to problems walking, breathing and swallowing

Ms Rynkiewicz said her "hero" is "fighting every day".

gofundme.com/f/stopsma

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