A little boy from Ramsgate who is beating the odds thanks to a new drug will attend a special Christmas party being hosted by Princess World and The Isle of Thanet News next month.
Ezra Thorman, who is celebrating his first birthday today (November 7) has spinal muscular atrophy type 1. It is a genetic condition where his muscles do not receive the messages from his brain, he cannot sit up, hold his head up or move his legs. The muscles needed for swallowing and breathing are also affected.
Parents, primary teacher Portia and planning solicitor Dan, first realised something was wrong when Ezra was just five weeks old.
Portia said: “When he was 5 weeks old Ezra got a cold and ended up in intensive care on a life support breathing machine.
“He was in hospital for two weeks. We were told he couldn’t cope with the cold. When he came home he was really weak and had stopped grasping and moving his legs. The health visitor said he was probably just tired.
“But at three months he had not put weight on his legs and wasn’t holding his head up.”
Ezra was taken to the Evelina hospital in London where blood tests were carried out.
The family were given the devastating news that Ezra had spinal muscular atrophy type 1 – the most severe form of the condition.
Portia, who is also mum to three-year-old Martha, Erin, 14, and Maisie, 17, said: “Only 20% of children with SMA type 1 make it to eight months old. The prognosis is not good, we were given a life expectancy of 2 years old.
“Ezra has spent a lot of his first year in intensive care on life support at the amazing Evelina Children’s Hospital in London, as he is particularly susceptible to chest infections.
“When we were told we just did not believe it at first. It was horrific.”
But Ezra was eligible for an Expanded Access Programme (EAP) meaning he can receive a new drug that has been trialled in America,
Nusinersen increases the production of a motor neurone protein that is very low in children with Ezra’s condition. It is not a cure but has been shown to bring about improvements for SMA sufferers.
The drug is not available on the NHS and is hugely expensive, but the programme means Ezra is receiving it directly from the drug company. The drug goes directly into his spinal fluid and will be needed for the rest of his life.
Portia said: “It is just a miracle. His last admission to intensive care was at the beginning of the Summer and he has been home ever since.
“He has started to lift his arm up and is trying to hold his head up.
“Our church, the New Life Family Church in Margate, has been amazing and we have had lots of support.”
The future is not yet clear for Ezra, who needs constant nursing care and has to have a ventilator at night to keep up his oxygen levels, but progress is being made.
Portia said: “He is a happy little boy, always laughing. He puts up with it all and is so amazing.
“We are living day by day and try not to think about the future. We have faith.”
Ezra will be joined at the party by his sisters, parents and nan. Portia and Dan are hoping it will also be a treat for Martha, who celebrates her fourth birthday next week.
Portia said: “Martha is amazing. She has had a lot to put up with and hasn’t had me around a lot because of the time spent at the hospital when Ezra was little and the time spent nursing him.
“She has been my little angel and my joy so we hope it will be a lot of fun for her.”
“She loves to be a princess and I know she will love this party.”
The Special Stars Christmas party with princesses and other fantastic characters is being held for Thanet boys and girls who face extra challenges in life.
The team at Princess World, based at Westwood Business Park, will host the character-filled party, with gifts for the children, food and drink, games and a special visit from Santa.
Princess World UK will also carry out a present run on Christmas Eve to the children’s Rainbow Ward at Margate’s QEQM Hospital.
Nominate a special child
We are asking you to nominate a youngster who you think deserves this treat. Just tell us their name, age and address, along with your contact details and a summary in 250 words or less saying why you have nominated them.
Entries to be sent to firstname.lastname@example.org by midnight on December 1.
The party will be held on Thursday, December 21 – times to be arranged.
We are also asking for donations of small gifts for children and young people which will be given to our party-goers and the youngsters who will be spending their Christmas in Rainbow Ward.
Donations can be taken to Princess World, Westwood Business Park, Strasbourg Street, Margate CT9 4JJ. Call 01843 309602.
What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy (SMA) causes progressive loss of movement and muscle weakness as a result of muscle wasting (atrophy). The condition may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing.
Type 1 is the most serious form of the condition.
A deficiency of motor neurone protein means sufferers are unable to send signals from the brain via the spinal cord, along the nerve cells and through to muscles. This means they cannot contract the muscles and make them move.
SMA Type 1 is the most severe form of SMA. Sadly, SMA Type 1 is a life-limiting condition. It is not possible to predict accurately life expectancy for babies diagnosed at a very early age, however without intervention this is usually less than two years.