The Myotubular Trust supports and helps families at various stages of living with the rare conditions myotubular and centronuclear myopathy. The charity brings families together and provides contacts with and advice from leading experts in the condition. It has funded 16 major research grants internationally and is behind three current clinical trials. This year, The Myotubular Trust received Jeans for Genes funding to help them continue their important work.
Images of Ruben have been shared with his parent’s permission. The title image shows a Myotubular Trust Family Conference. The rights to this image are owned by The Myotubular Trust
The commonest form of the two, myotubular myopathy, is a rare x-linked muscular condition, which means it affects mainly boys (estimated to be one in 50,000) and is inherited from their mothers. It is usually diagnosed in the new-born period and causes general muscle weakness, in particular swallowing and breathing difficulties. Many boys will need mechanical ventilation to survive and tube feeding. One third of boys will die before their first birthday and only a small minority will reach the age of ten.
New parents find themselves suddenly coping with a cruel and heart-breaking condition and rely on much needed support and advice from the Myotubular Trust.
Anne Lennox, Chief Executive of the Myotubular Trust, explains: “Myotubular myopathy affects all muscles in the body particularly swallowing and coughing, which are our greatest life-saving skills. It is a 24/7 job looking after someone with the condition. You can’t even go to the loo as they might have trouble swallowing while you are gone. You can be suctioning their airways every five minutes and if your child has a cold it can lead to pneumonia. It is a cruel postcode lottery as to what care families get.
“As a charity we help families at all stages, at diagnosis, choosing specialist equipment for the home and we can link parents to a specialist. We go into schools and help with care packages, support families through bereavement, pregnancy planning and a variety of genetic advice.
“The condition is severe, and families are living with a level of danger, but these are bright little boys and what they lack in strength they make up for in personality. We are very grateful to Jeans for Genes for their funding.”
Fundraising for Jeans for Genes means we can provide a grant to the Myotubular Trust to help families like Rubén’s.
Sian Carson’s son Rubén was diagnosed with myotubular myopathy at six months old. Sian, 28, a community support worker from Liverpool, says her son lived “a full and fabulous life”. He had defied doctors’ predictions and could walk with support, eat three meals a day and was a “happy cheeky little boy”. But Rubén sadly died in February 2021, aged three, after complications arising from an infection.
Sian says: “After a healthy pregnancy, Rubén was born blue and lifeless. Doctors began CPR and around 20 people ran into the room. First we were told he had brain damage, as changes could be seen on an MRI of the brain, then he had a virus and struggled to breathe. He was extremely unwell and needed ventilation and a feeding tube.”
During a stay of six months in hospital, Rubén was misdiagnosed with muscular dystrophy, before genetic testing showed Rubén had X-linked myotubular myopathy. Doctors told Sian, and partner Adam McKeown that there was a slim chance Rubén would live past 18 months and he would never gain functional milestones like walking independently, eating or drinking oral food.
Sian adds: “‘The neurologist said he was sorry. I just remember feeling so numb, guilty and heartbroken. I set about looking for others like us, and that was when I came across the Myotubular Trust. Wendy, a founding member, was amazing – she was so helpful, and she told me Rubén looked strong, and that now we had the diagnosis we could move forward. And that is what we did. She gave me strength to hope. It is difficult, but you make of it what you can.
“By the time Rubén was three he was doing so well. He was mildly to moderately affected and was strong. He communicated using Makaton, as his speech was delayed, but cognitively he was perfect. We had so much support and help from the Trust, including finding respiratory support as Rubén used a biPAP machine at night to help his breathing. We attended one of the Trust’s conferences and spoke to specialists. We got in touch with other families who really know what you are going through.”
Then in February 2021 the family’s world turned upside down. Rubén was admitted to hospital with a chest infection and his health deteriorated. After both lungs collapsed, Rubén was intubated and unfortunately, he didn’t survive.
Sian recalls: “I went home for some rest that night. The nurses called me just after midnight to come back into the hospital. I knew straight away it was bad. As the doctors commenced CPR I just kept thinking about all the milestones we had achieved with him. But after six minutes there was no real improvement. We understood we had to let him rest. It was really unexpected and sudden. We brought him home in a cold blanket – it felt right to be at home surrounded by everyone who loved him. It enabled us to say goodbye on our own terms.”
The Trust was there to support the family in their grief. And it is thanks to the Trust that Sian and Adam have qualified for IVF, should they wish to try for another baby. Without IVF, Sian would have a one in four chance of passing the condition on to a child.
“It was a lifeline to have someone to talk to,” Sian recalls. “I don’t know what I would have done without their support all the way through. We wouldn’t have had such a fulfilled life with Rubén. They helped us to really make the most of our time with him.
“After we lost Rubén I was then misinformed by doctors that I wasn’t a carrier of the genetic condition and therefore would not qualify for IVF for a future pregnancy. I was unbelievably distressed. In one week, Anne from the Trust had contacted a genetics centre in France, they confirmed I was indeed a carrier of myotubular myopathy.
“I will qualify for IVF thanks to the Trust. It is unbelievable how much they have supported us and they are the reason that the door is open to us to have another child. I feel we have a place of safety in the Myotubular Trust and I can’t thank them enough.”