‘It won’t happen to us again, will it?’, the parents of three-year-old Elena – with SMA – wondered. 25 per cent chance of having a baby with the muscle disease SMA. A small chance, you might think. Yet her little brother Jake was born with SMA. Fortunately, new gene therapy at the Wilhelmina Children’s Hospital in Utrecht gave Jake and his family hope for a happy life. In episode 1 of season 2 of the RTL series ‘The Children’s Hospital’, we see Jake. He is then two weeks old and receiving gene therapy. How is he doing now?
Courage, resilience, hope and strength. These are words that fit Simone and her family. Because two children with SMA (Spinal Muscular Atrophy), bring worry and uncertainty. But there is also a lot of gratitude, opportunity, pride and love. The family leads a fairly ‘normal’ life. Simone says: ‘Elena is in a wheelchair. As a baby, she did not crawl, did not stand and could hardly lift her head or legs. It felt like her strength was getting less and less. Her development slowed down: it turned out to be SMA. Her treatment offers hope: every four months she gets an epidural, which keeps her muscle strength.’
There was a desire for another child. Even with a 25 per cent chance of having a child with SMA. At 18/19 weeks pregnant, Simone heard that Jake too had SMA. ‘We were then faced with a choice: terminate the pregnancy or continue with the risk that he would be limited. I could already feel him moving. And how unfair: you have the same disease as your sister, are you not allowed to be born?’ Knowing that there was a new gene therapy, they decided to push ahead. ‘I found strength in our family, especially Elena. Her perseverance gave me courage. Of course you don’t want a child in a wheelchair, but you can’t predict the future. What I do know is that thanks to this treatment, so much is possible for Jake. That gives us hope.’
The UMC Utrecht can start treating babies with the severe muscle disease SMA with the gene therapy Zolgensma. Patients with the rare muscle disease SMA like Jake and Elena have an inherited defect in their genetic material. In them, the so-called SMN1 gene is missing, leading to a deficiency of the SMN protein. This protein is needed for the function of nerve cells that connect the spinal cord and brain to muscles. With gene therapy that puts the missing SMN1 gene back into the body’s cells. It is administered by a one-time infusion. The beauty is that this gene therapy is permanent: the DNA is not degraded and continues to function.
In episode 1 of season 2 of the RTL series ‘The Children’s Hospital’, we see Jake. He is then two weeks old and receiving the gene therapy. How is he doing now? ‘Jake is a very happy and opinionated little man. Everything is going by the book, which is something we are incredibly grateful for. Jake is letting us relive what it is like to get older and enjoy his toddler behaviour, such as discovering ‘normal’ things: sockets, candles and the world around him. Every morning he jeers when he sees Elena. It’s the little things Elena can now do by herself that make us proud. We keep seeing progress in both of them. Elena will soon go to primary school. That’s a big step. How will other children react? We hope Elena will be articulate enough to say, ‘I have a muscle disease, but I can do everything.’
Jake was given the chance of a healthy life thanks to scientific research. Without these developments, treatments like gene therapy would not have been possible. At Wilhelmina Children’s Hospital, doctors and researchers are constantly working on new therapies and better care for children with serious illnesses.
The Utrecht SMA Centre has maintained a national SMA registry since 2010, recording all people with SMA and their disease data. With patient consent, doctors now also use the data they collect for care for research. This includes, for example, results from lung function tests, EMG tests, blood tests and tests to measure muscle strength and motor skills. The database also contains results from when people were not yet receiving treatment.
This data has allowed researchers at the SMA Centre in recent years to map how muscle strength deteriorates throughout life if the disease goes untreated. They are currently looking at developments in muscle strength in people who do receive treatment. In addition, they are learning more and more about other clinical aspects of SMA, such as lung function, swallowing function, development of scoliosis, blood clotting and kidney function, of which the course without and with treatment is insufficiently known.
