Rare disease won’t stop Harry’s fun

At school he enjoys PE and art, he loves table tennis and even likes double maths.

Sitting with parents Gary and Jill in their pretty garden in Idle, where the family’s lively pet dog Paddy scurries about with his rubber bone, Harry looks like any happy, chatty boy.

You wouldn’t know that, because of a rare genetic condition, he was unable to take any food by mouth until he was five-years-old, and even now he has to be mostly tube-fed.

Harry is one of only two people in the UK with a particular strain of myotubular myopathy, which causes muscle weakness and complications with breathing and swallowing.

Jill and Gary knew from the moment he was born that something was wrong.

“He didn’t cry and was limp and floppy. He couldn’t feed and kept going blue because saliva and feed was going down into his lungs,” says Jill.

“He was taken away to a special care unit, and after that it was all a bit of a whirlwind. It was frightening because we didn’t know what was wrong.”

It wasn’t until he was three-and-a-half that Harry was diagnosed, following a muscle biopsy, and it was only last year that it was discovered what type of myotubular myopathy he had.

It affects mostly boys, and there are three genetically-distinct forms – the most common, and severe, is X-linked, which doctors initially thought Harry had, but he has the rarer dynamin 2 gene form.

Now Harry’s family are raising awareness of the condition, known as an ‘orphan disease’ because so little is known about it. Next month Gary, Jill, Harry and sister Hayley, 17, will be joined by relatives and friends for the Hope Walk, aiming to raise funds for the Myotubular Trust, which funds research into the condition.

“We hope that as well as raising funds, it will bring myotubular myopathy to people’s attention,” says Gary.

“We didn’t know anything about it when Harry was diagnosed and there was hardly any information available. Since then, the Trust has been set up and it’s doing a lot of work in research. It has been a great support to us. We have met other families with similar experiences.”

It is estimated that between one in 50,000 to one in 100,000 children are born with the disease each year, and only one per cent survive beyond the age of ten.

Sufferers are missing a muscle protein developed in the womb, so their muscles are weak. Most babies born with it are too weak even to take a breath.

Because muscles that manage coughing and swallowing are affected, just swallowing saliva can be life-threatening and many sufferers need mechanical ventilation to stay alive and have to be fed straight into the stomach.

Harry can take small amounts of food normally, but is mainly fed via a tube directly into his stomach.

Aged just three months, he underwent a jejunostomy – an artificial opening into the jejunum (part of the intestine) to place a feeding tube. “He was fed into his bowel 23 hours a day, linked to a machine,” says Jill.

“An apnea monitor – a portable machine used to monitor a baby’s heartbeat and breathing – alerted us if he had any trouble breathing.

“For the first two years of his life he was in and out of hospital. Then when he was two he had a gastrostomy – a surgical operation into the stomach – which made him stronger. He also had his tonsils removed, as they were huge and blocking his airway.”

Jill and Gary recall feeling helpless and frustrated at seeing Harry enduring so many painful tests as an infant.

“He was full of wires and tubes and undergoing lots of tests, such as lumbar punctures, nerve conduction and muscle biopsies. It’s horrible seeing him like that,” says Jill.

Harry was born at Bradford Royal Infirmary, then transferred to Leeds General Infirmary, where he has had most of his operations.

“Initially he was transferred to the neuro team and had lots of tests,” says Jill. “He was referred to Hammersmith Hospital, and the department has now moved to Great Ormond Street.

“We go there once a year for them to check on Harry’s progress, some physiotherapy and a sleep study – they attach lots of wires to Harry then he has to try and sleep, so they can check his carbon dioxide blood levels.”

Harry grimaces at the mention of it. “I don’t like doing that,” he says.

Every eight months Harry has a saturation monitor attached, to check he’s getting enough oxygen overnight, and when he has a cold he needs regular treatments, which Jill and Gary administer.

The family home has been adapted, with a ground-floor toilet and a stairlift, which the family had to raise £5,000 for.

Harry goes to Benton Park School in Rawdon and uses an electric wheelchair, so he can keep up with his pals. “The school has been great – they moved Harry to a classroom to suit his needs,” says Jill.

“He can’t walk a great distance, especially if there’s a slight incline. He has to put in so much more effort, and he gets fed up not being able to play football. He’d love to ride a bike, but he’s not able to pedal.”

“But in games at school I keep the scores, so I’m part of it,” adds Harry. “Sometimes people are surprised and say, ‘I thought you couldn’t walk’ when they see me out of my wheelchair. I can walk – I just get tired very quickly and out of breath.”

Harry is looking forward to the Hope Walk, which follows a five-mile route along the Leeds-Liverpool canal towpath.

“We’d like as many people as possible to take part,” adds Gary.

“The charity is doing a lot of work researching the condition and this is our way of giving something back. There are advances being made in muscular dystrophy research, and any development with that may be beneficial to myotubular myopathy too.”

“We went to a conference in London and met families from across the world who are touched by this condition. We’ve been in touch with a family in Australia who are doing a Hope Walk on the same date!”

l The Hope Walk takes place on Sunday, May 8. It starts at 11am at the Railway Hotel, Rodley, following the canal to Apperley Bridge and back. For a sponsor form, or more information, contact Gary Beck on 07722 959446, e-mail contact@myotubulartrust.org or visit myotubulartrust.org