Thomas might have ‘weak muscles’, but he’s got ‘great calves’

Thomas has cute curly blond hair and piercing blue eyes. He’s enjoying sitting with his sister on the couch watching SpongeBob. Nothing about this happy little guy would make you think that he has Duchenne Muscular Dystrophy (DMD). ‘And that’s exactly the way we want to keep it for as long as possible,’ says father Teun Tonino. ‘He’s not really aware of his condition yet. That awareness will come naturally with time as he grows older. What’s more, he’s got a sister who watches over him like a mother hen.’ And he’s going to have another two mini-mums soon because Esther is expecting female twins. Thomas’ parents, Teun and Esther, take an optimistic view of life and are eager to share their experiences with Thomas’ disease with other parents of children with DMD.

Thomas is four years old. Teun (aged 36) and Esther (aged 35) found out that Thomas has DMD two years ago. ‘Every parent of a child with DMD goes through more or less the same process,’ Esther says, recalling the early days after Thomas was diagnosed with the disease. ‘It is discovered early in some children, while other children are not diagnosed until much later. There was another reason why we found out so early. Thomas didn’t have an easy start. The first few days of his life were extremely tense because he was born a month prematurely and his lungs were not yet completely up to the job. But he pulled through.

Doctors are keen on continuing to stay in touch with children like Thomas to see how they develop. We were consequently asked to bring him to the hospital in Utrecht every six months. He continued to lag behind in his development. During the first year, this was still attributed to his premature birth and to the fact that boys generally always develop a bit slower. But at a certain moment a paediatrician said that Thomas’ medical problems could no longer be related to his premature birth.’ Esther: ‘Thomas felt very limp when I would pick him up. He was just completely dead weight.’ The paediatrician in question also happened to be a good friend of Elizabeth Vroom, founder of the Duchenne Parent Project, which is one of the principal supporters of Prosensa research.

"During the first year, this was still attributed to his premature birth and to the fact that boys generally always develop a bit slower.
But at a certain moment a paediatrician said that Thomas’ medical problems could no longer be related to his premature birth."

"The professionals who were seeing Thomas had absolutely no idea that he was suffering from DMD."

‘The diagnosis was fortunately established relatively quickly.’ Teun and Esther are, however, convinced that primary healthcare providers such as clinics and physiotherapists should be more aware of the main characteristics of rare conditions such as DMD. ‘The professionals who were seeing Thomas had absolutely no idea that he was suffering from DMD.’

Great calves

There are actually a relatively large number of characteristics that are very specific to DMD. Thick calves are by far the most common trait. The calves are not comprised of thick muscles, but rather of fat and connective tissue. ‘Thomas has great-looking calves. As a cyclist, I’m incredibly jealous of them,’ says Teun. Another characteristic is how the children stand up. ‘They always support themselves with their hands. They push themselves up through their knees. It is hard for them to jump.’ It only became clear over time what all these characteristics combined actually meant. ‘There are still people who wonder what is wrong with him. But Thomas does now tell us that he is tired more often. He has a lot of trouble climbing the stairs.

"Thomas has great-looking calves. As a cyclist, I’m incredibly jealous of them."

Yet his sister is his role model. She is naturally more mature in his perception and can consequently do a lot more than he can. Julia (aged 6) knows that Thomas has “weak muscles”. If our children ask questions, we just give them straight answers. We don’t, however, give them more information than they ask for. We just focus on trying to create an environment in which they feel comfortable about asking whatever is on their minds.’

Teun and Esther are very pleased to participate in the interview. ‘We think it is important for other parents of children with DMD to be able to benefit from hearing our story. We take an optimistic view of life. And we want to share our experiences. As far as that goes, we agree completely with Elizabeth Vroom of the Duchenne Parent Project: “There are worse things that can happen.” and “Life should be a celebration.” Elizabeth is naturally an inspiring example for every parent who has a child with DMD. Just after we became members of the organisation, she sent us an e-mail with a photo of a helicopter flight she took in Australia with her eighteen-year-old son Justus who also has DMD. It absolutely meant the world to us and really encouraged us. Vroom told us that when she first heard her son had been diagnosed with DMD many years ago, she could only find negative information about DMD. That has now clearly changed.’

"Life doesn’t stop if you have a son who has DMD. You can still do lots of really fun and wonderful things together."

‘Everybody now actively searches for information about the disease via brochures, Wikipedia and a range of other sources. It is now possible, from a technical standpoint, for everyone to find out about the causes of the disease, but this information doesn’t answer the question: What does this mean for a family? You usually find things on the internet that you don’t want to hear. And while this information represents the factual reality, you’re not just looking for facts, but are also actually hoping to find support and positive experiences. We fortunately now increasingly come across this type of information as well.’ Esther: ‘Life doesn’t stop if you have a son who has DMD. You can still do lots of really fun and wonderful things together.’

"DMD immediately makes you once again realise what is and isn’t important in life."

‘Even though we have a positive outlook, we’re only human and naturally have a down day every now and then. But we don’t look to the future with fear. On the contrary. We envision a world of terrific challenges. The most important thing for us is not to see Thomas as a patient. He’s just “our Thomas” and we simply want to enjoy him for who he is.’ Esther continues, ‘You do, however, focus more consciously on what he is capable of doing and on the things he does. During the first weekend after the diagnosis, all we saw was children walking around and riding their bikes. And then we’d think: I wonder if Thomas will ever be able to do that? And what about some other kind of physical activity? But that’s when we thought to ourselves: No, that’s not the way we should look at it. He’s our Thomas. And from that moment on we started celebrating all the things he can do. This realisation led to an immediate change in our frame of reference.’

‘As a family, we also experience a lot of positive things through Thomas’ disease. You are suddenly surrounded by people who are genuinely there for you. The contact with Elizabeth and other inspiring people like her has been brilliant. DMD immediately makes you once again realise what is and isn’t important in life.’

Duchenne Heroes

"More than a million euros was raised through this event last year! And 275 cyclists took part in the event."

Teun says Duchenne Heroes is a perfect example of the unexpected support they received from people. Teun participates in a cycling race every year to support Duchenne Heroes. For 2,500 euros, you can take part in a mega course on a mountain bike. The course covers 700 kilometres in seven days across unpaved terrain from Luxembourg to Nijmegen. The participants raise the registration fees through sponsoring. More and more friends and acquaintances want to participate every year. A friend who I hadn’t seen in ages, unexpectedly called me to sign up. Last year a couple of people I’d never seen before in my life just joined the team. And donated money. It’s unbelievably emotional! The proceeds from the cycling race have made Duchenne Heroes one of the largest contributors to the Prosensa study into exon-skipping. More than a million euros was raised through this event last year! And 275 cyclists took part in the event.’

High hopes for research & development

In Thomas’ case, exons 51 through 53 are missing. This means exon 50 needs to be skipped. ‘They can currently already employ exon-skipping in 70% of the deletions and fortunately Thomas’ deletion is one of them,’ says Teun. ‘We place high hopes on further progress of research & development. This technique is, after all, one of the most promising at the moment.’

"We place high hopes on further progress of research & development."

Thomas does not have to visit the hospital very often anymore. He only still regularly sees a paediatrician to have his bronchial tubes checked. ‘But my daughter also had the same problem. So it’s not really that related to DMD,’ Esther adds. ‘Otherwise he is a more or less normal boy. He does attend a special gym club at set times at the children’s physiotherapist’s practice for children who are not as developed physically as their peers and he sees a rehabilitation specialist. He is also treated by a speech therapist because DMD patients can have a tendency to have minor speech problems. Thomas is, however, doing very well in this area right now.’ Teun adds, ‘But we still ask ourselves repeatedly what the root causes of these various problems are. Does it all come down to DMD, or is it also related to his age? Is he really a rebellious little guy or is he just in a bad mood?’ The big test will come after the school holidays. That’s when Thomas will go to kindergarten. ‘Luckily he can stand up for himself pretty well,’ Esther says affectionately.

More children are on the way

Esther is expecting twins at the time of this interview. Two baby girls are on the way. ‘We gave a lot of thought to whether we wanted to have more children. We obviously wondered what we would do if we had another little boy. As a mother you don’t necessarily have to be the carrier of the deficient gene. In one third of all cases of DMD, a spontaneous mutation occurs in the boys.’

Teun and Esther are, however, already looking to the future. Esther wants to attend Teacher Training College in order to ultimately be able to coach special needs children at schools. They also had to decide whether to make alterations to their current home or to move to a larger house, particularly now that they will soon have four children. At a certain point everything including the bathroom, bedroom, etc. will need to be on the ground floor. ‘We asked neurologist Dr. Goemans in Leuven which alternations we would need to make when that time comes.’ Teun and Esther have now been able to buy the dream home in Tiel that they had their eye on at the time of the interview. Even though the renovation could take up to a year, they are nonetheless overjoyed. ‘Everything can now be tailored to match Thomas’ needs. But we still of course hope that a treatment for his weak muscles will be found soon.’