Northern Ireland

Gravely-ill Co Antrim toddler in a race against time to raise money for life-saving gene therapy treatment

Xavier Rynkiewicz from Lisburn, Co Antrim suddenly became ill at eight months old
Xavier Rynkiewicz from Lisburn, Co Antrim suddenly became ill at eight months old Xavier Rynkiewicz from Lisburn, Co Antrim suddenly became ill at eight months old

THE parents of a gravely-ill toddler are in a race against time to raise money for life-saving gene therapy treatment before it is too late to save him.

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) 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.

His parents and 10-year-old brother Nicolas watched helplessly as his condition degenerated until he became bed-bound, only able to blink and unable to breath on his own.

They were told he was unlikely to live past his second birthday.

Today he is a bright and engaging toddler after responding to the drug Spinraza which he was prescribed a year ago and the daily physiotherapy which the parents save every penny to pay privately for.

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

"We faced every parent's nightmare when we were told our son's life expectancy is no longer than two years, but Xavier proved us wrong," Ms Rynkiewicz said.

"Our hero is two-and-a-half and is fighting every day. He has to use BiPAP ventilation every night to support his breathing. He also uses a Cough Assistant machine every morning, but none of this makes him fight less, he's never giving up.

"He is capable of holding a spoon and swallows his food which is not achievable for most kids with SMA. This is all possible thanks to a strong regime of twice daily rehabilitation sessions seven days a week."

However, while the drug is "giving him strength and slowing" the disease's progression, it only a short-term and his parents don't know when funding will stop.

Xavier Rynkiewicz and his mother Marta
Xavier Rynkiewicz and his mother Marta Xavier Rynkiewicz and his mother Marta

Hope for a complete recovery has come with the news that radical gene therapy Zolgensma 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".

It has "manageable" side effects, treated with a simple steroid.

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 said.

"The child has to be less than 21kg to get the treatment and Xavier is 16,7kg already."

Family friend Magda Radtke has helped set up a GoFundMe page, but they are a long way from the eye-watering sum needed.

"He is such a special little boy. He has touched my heart so much, he is so loveable, so clever for his age, the words he uses are incredible," she said.

"If he gets this treatment he could live a normal life."

gofundme.com/f/stopsma