Stan has only one goal

Johnny Grooten and Wanda Bos and their eight-year-old daughter Nienke and seven-year-old son Stan live in the Dutch town of Nieuw Dordrecht near the city of Klazienaveen in the northernmost region of the Netherlands. They have a beautiful home with a big garden at the end of a lovely country lane.

They have placed playground equipment in the garden to create a real paradise for the children. One of the main pieces of equipment is a goalpost. This is where Stan, wearing his special Ajax football shirt, catches the balls his dad kicks at him. He dives from one side to the other and has an absolute ball. ‘Just look at him go,’ says his dad, ‘Isn’t he a champ with those strong calves? He’s already very muscular for his age. Those calves suit him to a tee.’

"I didn’t notice that anything was wrong except for the fact that Stan’s motor skills did not develop quite as quickly as those of other kids his age."

Johnny has his own company that sells production robots. Wanda works for an organisation that provides employment for men who have a mild mental disability. Stan is now seven years old. He was not diagnosed with Duchenne Muscular Dystrophy (DMD) until he was five. Johnny says, ‘For me, those first five years were the most fantastic years with him. I didn’t notice that anything was wrong except for the fact that Stan’s motor skills did not develop quite as quickly as those of other kids his age.

At a certain point we decided to take him to the hospital to talk about some behavioural problems.’ Wanda explains, ‘I was having some conflicts with him, and other people, including his preschool teachers, were also having trouble with him. There were run-ins because he had trouble getting dressed or because he would throw a bit of a temper tantrum. It also took a long time for him to become potty trained.

When I think back, almost everything about his development was different. He moved differently and his balance wasn’t like other kids’. When he was out playing with his friends, I would see them all run past and then, sure as the world, Stan would run past later than the rest. He simply couldn’t keep up with them. We took Stan to a number of doctors to have his knee and hip joints examined. But there wasn’t anything wrong with them.’

‘We ultimately took him to a paediatrician who said that Stan needed to take a round of rehabilitation with the physiotherapist, occupational therapist, rehabilitation specialist and speech therapist. The rehabilitation specialist soon asked us to come in to see him. That was in June 2007. At that time we still didn’t have any idea what was going on.

We drove to the appointment and even kidded and joked around on the way. The doctor walked into the room cheerfully, but then he told us that all of the medical specialists had, independently of each other, arrived at the same diagnosis and all agreed that the symptoms pointed to DMD. Wanda: ‘I knew somewhere in the back of my mind that it was a muscle disease and I was incredibly shaken by the news.

But we still didn’t know precisely what the exact implications of this disease were. The doctor explained what DMD is and tried to put its severity into some kind of perspective. He said, “There are also cases of patients who have DMD who are able to travel by air with an oxygen tank when they're thirty ....”. 'That was when it really sank in and we were shocked beyond belief. You can’t imagine what goes through your mind.'

‘You could have heard a pin drop on the drive back home,’ says Wanda. 'We got straight on the internet the second we got home, but we couldn’t find a great deal of information about DMD.’ Johnny says, ‘I consoled myself with the thought that the diagnosis wasn’t definitive yet. His thick calves didn’t mean anything to me at that time. He was given a blood test the very next day. It revealed that his CK level was extremely high and that’s when it really hit me.

They then also carried out a genetic test, even though we would not find out the results until after the summer holiday. We were in France on holiday at the time. How do you get through a holiday like that? But we were able to put it out of our minds. We simply couldn’t let Stan notice just how sad we were. Everything goes on as usual. But we did light a lot of candles at little churches in France.’

"The six phases of the disease were defined in detail on the internet. Phase three already talked about artificial respiration. That’s when we stopped reading.’"

‘We eventually received a phone call from Groningen informing us that Stan really did have DMD. We had been unable to find out on the internet that research into possible therapies was already being conducted. They initially told us clearly at the hospital that there was no treatment available for DMD and that a cure would probably not be found in his short lifetime.’ ‘I was so incredibly offended at first,’ Wanda continues. ‘But then the doctors told me they had become extremely careful about getting people’s hopes up. The six phases of the disease were defined in detail on the internet. Phase three already talked about artificial respiration. That’s when we stopped reading.’

Mum, when will I have to start using a wheelchair?

‘The odd thing was that I began the process of mourning straightaway,’ says Wanda. ‘You instantly start thinking about losing him, even though there the little guy is walking around in front of you. Only at a later stage do you say to yourself, “Hang on a minute”, he’s only five years old. We’re not in the final days yet. We are going to make the most of our time together. Let’s enjoy every second as much as we can and then we’ll see what happens.’ Johnny says that his life slowed down from the moment he heard about Stan’s condition. ‘Everything moves in slow motion. I experience everything much more consciously. Even though I love my job, my children come first.’

Wanda and Johnny have talked with each other in order to ensure that they are both of one accord when it comes to Stan’s upbringing. ‘Stan now knows that he has “sick muscles” and that he will eventually end up in a wheelchair. Once after we got back from doing the grocery shopping, he asked, “Mum, how old will I be when I have to start using a wheelchair?” I don’t know, however, whether he really understands what that means and whether he already has a concept of time. And he also once asked: “When will the doctors find a pill for my sick muscles? When will I get over my sick muscles?” and, “I want to be able to jump again.” He knows that work is being done on developing a pill. And only just recently he said to me, “I want my muscles to get better.” It’s constantly on his mind.’

"When will the doctors find a pill for my sick muscles?

I want to be able to jump again."

Stan is already aware of his limitations. ‘He’s a boisterous boy. He’s crazy about playing football and has always been amazed at how fast the other kids can run. That’s why at a certain point he started being the goalie. And he’s incredibly good at it. You could say it has given him a purpose in life,’ says Johnny.

The first five years of Stan’s life were relatively carefree. So, in retrospect, Johnny would not have wanted to know any earlier. Stan could have started taking prednisone a year earlier at the most. But, for the rest, it would not have made much difference.

Dutch National DMD Day

‘After we found out in August that Stan had DMD, we attended the Dutch National DMD Day in September. That’s when we heard about exon-skipping for the first time and we looked at each other in utter astonishment. You see, there is a chance after all!! The adrenalin started pumping right away and we immediately regained hope.

"You see, there is a chance after all!!"

Everything was so laid back on that day. You could simply chat with the doctors and researchers during the break. You’re always a little bit apprehensive the first time, but we walked over and spoke with Judith van Deutekom anyway. We have now found out that Stan is missing exons 45 through 54. If exon 44 is skipped, exon 43 will fit on exon 55. That’s what we are putting our hopes in.’

Stan is doing well

‘Stan is now doing well,’ say Johnny and Wanda. ‘He only goes to the physiotherapist once every six months. He’s extremely agile and his muscles are staying very supple. He also visits a multi-discipline team in Groningen that examines him once every half year. We have heard from other families about preventative splinting. That’s why we are soon going to visit Dr Nathalie Goemans in Leuven, Belgium where she has a neuromuscular reference center. We want to hear her views on the best course of treatment and medication for Stan. It would be so wonderful if Stan could remain mobile for as long as possible so that he can participate in the exon-skipping programme as soon as it becomes available and his body can once again start making dystrophin.’

Actively searching for information

‘There are parents who take a wait-and-see attitude. And that is completely understandable. We are, however, constantly searching for new information. We regularly search the internet and have also received a lot of new input through the Dutch National DMD Day. Such as information about green tea extract, which is a nutritional supplement available in tablet form. Research in mice born with DMD has shown that this extract contains antioxidants that neutralise the substances that attack muscles. So we are now giving Stan green tea extract every day.

We are also extremely enthusiastic about Japanese robot suits with sensors that can help the children when they are moving. The suits are perfect for letting them move as much as possible and for keeping all the muscles supple until a treatment becomes available. But unfortunately the suits are not yet permitted in Europe. It’s a shame, because I am sure they would be a tremendous help.’

"We’ve simply submitted a claim to a health insurer. We’ll see how it turns out."

With respect to the future, Johnny and Wanda would like to build a new house on the plot of land where they currently live. The local authority can also provide them with financial assistance to achieve this dream. Wanda: ‘But there’s naturally always something else we want. For example, we just had a new bicycle made for Stan. It’s a super cool motorised bike. It looks just like a chopper. But the local authority only has contracts with certain suppliers who naturally could not provide this kind of tailor-made bike. Right now we are working on having a really neat-looking walking frame made for him. We’ve simply submitted a claim to a health insurer. We’ll see how it turns out.’

Active for DMD

Johnny and Wanda also actively help raise funds for DMD research. They have organised a number of fundraising events including a New Year’s run and a run4duchenne. They have also raised 8,000 euros by collecting 1,000 old mobile phones. All are positive activities aimed at achieving just one goal.