Elena is three years old. She is a happy girl with the hereditary rare muscle disease Spinal Muscular Atrophy. Every four months, she receives an epidural. This ensures that her muscle strength does not decrease further. Thanks to this treatment, her condition remains stable and there is hope for the future.

As a baby, Elena initially seemed healthy, but it was soon noticed that she did not grow with other children her age. She did not crawl, could not stand or walk and had difficulty lifting her head and legs. She seemed to have less strength than other babies. After a medical course, it turned out to be Spinal Muscular Atrophy. Mother Simone: ‘Having a child with this disease is something that happens to you. The wish for a child is there, but you never expect that your child will have a serious muscle disease.’

Two children with Spinal Muscular Atrophy (SMA)

And certainly not with a first child. Elena has SMA type 3 and often becomes noticeable only after six months. ‘For the first time, we had no awareness of what was happening to us. Later, Elena had a baby brother, Jake. It was a twenty-five per cent chance of having a baby with the same muscle disease. ‘It won’t happen to us again, will it?’, they wondered. Yet her little brother Jake was born with SMA. Fortunately, new gene therapy just after his birth at the Wilhelmina Children’s Hospital gave hope. Elena and her brother have a special bond. Every morning, as soon as they see each other, he bursts out laughing. They enjoy the little moments together and share their own way of being together.

How is school going in the future?

Elena will soon be going to school. A new environment, a bigger primary school, and other children meeting her for the first time. How will they react? Simone: ‘I hope she will be articulate enough to explain: “I have a muscle disease, but I can do everything.” We are also thinking about how her brother will grow up with a sister with SMA. We want him to live a normal life, without always having to adapt or worry. Fortunately, the treatment is catching on and she is being monitored closely in Utrecht. The physiotherapy helps, and as soon as there is a suspicion that her muscle strength is deteriorating, treatment can intervene quickly.’

Visits to the Wilhelmina Children’s Hospital

The family is often at the Wilhelmina Children’s Hospital for day visits. ‘These are long days, but we try to make something fun out of them-an outing, a day when we are together. Elena herself is now very aware of everything that happens at the hospital. She knows exactly what the treatments entail and what will happen when she has an appointment. We lead a fairly normal life, with extra care.’

The SMA Centre Netherlands is at the UMC Utrecht. Young patients can go to the Spieren voor Spieren Kindercentrum for diagnosis, care and treatment. In addition, the SMA Centre Netherlands carries out scientific research into SMA. SMA is a hereditary muscle disease, which means you are born with it. You can get the disease if you inherit the defect in the gene from both your parents. Parents often do not know they are carriers and discover this when they have their first child, as happened to Elena’s parents.

In the Netherlands, all children are given a heel prick in the first week after birth. The aim of heel prick screening is to detect serious, hereditary diseases so that children can receive early treatment. This screening involves diseases that cannot be cured but are treatable. Since 1 June 2022, SMA has also been added to heel prick screening, allowing doctors to diagnose it at a very young age. When Elena was born, SMA was not yet included in the heel prick, which is why it took a long time to discover that she has SMA. Parents in the Netherlands are now often told at an earlier stage.

If the result of the heel prick screening is positive for SMA, the child is likely to have the genetic predisposition to develop symptoms of SMA later in life. A positive result says nothing about how severe the disease will become; this can vary greatly from person to person. To predict the severity of the disease, further blood tests are needed first. After a positive result, parents are therefore invited to visit the Spieren voor Spieren Kindercentrum at the Wilhelmina Children’s Hospital in Utrecht within a few days.

If doctors can determine early on that a baby has SMA, treatment can start as soon as possible. This is because the drugs work better when the baby has no symptoms yet.