Måns today 2008

Week 52 (Christmas)
We spent Christmas week on a skiing holiday in the mountains with relatives. Måns thought skiing was great fun. He skied between Fredrik’s legs, even down the biggest slopes. During the last days he could take the button lift by himself and tried making his own way down the runs. It was a wonderful feeling to see him! Rosy-cheeked and with a will of steel! He is a real tough-guy and a fighter, despite his illness and his lack of strength.

We would like to take the opportunity to wish everyone who reads this website a Happy New Year. Enjoy every day and do what you want to do – you never know when it might be too late! Today Måns has been for a blood test – this time without anaesthetic cream – but it still didn’t bother him.

Week 50 (mid-December)

Neil from Stockholm, who is behind the sponsorship for the Gothenburg half-marathon, was here for a visit last Friday. It was fantastic to hear that he is willing to sponsor various activities until 2001 – so for those of you who still haven’t got involved, now is your chance! Run, walk, ride, swim, ski – the choice is yours!
Måns has been in Lund to try new leg splints. The old ones fit a bit badly which makes them painful at night.

Week 49 (early December)
We have just got back from our fifth trip to Gothenburg for the clinical study. The study is still ongoing, but we still can’t give any details about it. There isn’t all that much to say about it, as we never get to see the results. Måns was as good as ever. He has had a flu vaccine, which could be useful against the epidemics that are around the corner.

Week 44 (early November)

The study is now in its sixth week and Måns has been in Gothenburg for one of his regular visits. Samples have been taken and tests run, which he handled without difficultly as normal. Fredrik took part in SMDF’s board meeting where planning for the next symposium was one of the items on the agenda. It is planned for spring 2010 as there is much happening on the research front. Some of these studies may be finished by the time the symposium is held, so we can expect a lot of useful information.

Måns continues to surprise us with his acrobatics. He seems fascinated by his body and what it can do. What this is due to will be left unspoken…

Interest for the Gothenburg half-marathon is huge. About 45 people have signed up. Petra has set her own record by running 10km for the first time in her life! It was a wonderful feeling afterwards, and from here on it will be 10km every Saturday. Anyone fancy a race?

Week 43
As you might have noticed, some of the information below has been changed. This is because we have been told not to write anything that can be misinterpret by patients with DMD or relatives. When the clinical trial has been evaluated all facts will be presented.

We will of course keep you informed about Måns' progress in some way.

Week 39
Last weekend we had a family get-together, and he was rushing around on the beach playing.
Måns has started playing the drums at Kulturskolan in Ystad. He is often tired when it’s time to go there as it’s right after day-care, but once he is actually there he loves it. We thought he would like horse riding too and signed him up at Ystad riding centre, but after two visits he said: “Horses are great fun, but I’d rather be at home taking it easy on Saturdays.” Ebba, however, has carried on and is now really “horsey”. Otherwise it’s full speed ahead – even Santa’s workshop is up and running! So far Grandma has made 35 Santas and a few of us are helping put them together. If you are interested in buying one, please contact us.
We will be selling them at the Christmas market at Högestad on November 22-23.
Training for the half-marathon is going well – although it is getting a bit dark when setting of for a 5km run at 5.45am. But it will take more than that to stop us!

Week 38
And now we’re off! After two days in Gothenburg, Måns has now started his medication. Three times a day we have to mix together a powder with milk for Måns to drink. We do not know what the packets contain as one third of the patients get a placebo. After 48 weeks we will be told what the packets have contained. Every third week blood tests will be done in Ystad and every sixth week we will go to Gothenburg for blood tests and different physical and mental tests. After the tests all samples are sent by air directly to Switzerland in a special chilled bag. Once again Måns is totally unfazed and says the medicine tastes like vanilla ice cream. When Petra told Måns that he would have to take the medicine three times a day for a whole year, he commented: “But Mum, I’m don’t have to take medicine at night, although some people do…”

Week 37
This week has been good. The wound left by the muscle biopsy has healed well, and Måns has not had any problems after the operation. On Tuesday Lyckebo day-care organised a carnival day for the children which was much appreciated by all. There was a bouncy castle, candy floss, face painting and everything else you would expect. Fredde and Måns have kicked off autumn’s “Friday bath” in the 34-degree water, and we’re sure both of them find it a nice end to the week.

Week 36
The clinical trial has taken another step closer to the medication phase. Last week Måns was in Lund for an ultrasound examination on his heart. Everything seemed to be well, so that was good to hear. This week Måns has been in Gothenburg for his second visit. Each stage of the trial is done with the utmost care and all the checklists must be verified to ensure that all of the participating boys around the world are subject to identical tests.

On Tuesday there was an examination with a doctor and an ECG. This ECG was a bit different. What made it different was that the result was immediately sent by telephone to a test centre in Switzerland. Thirty seconds after the test was done the result was confirmed by the test centre which is manned 365 days a year, around the clock. A muscle biopsy has also been done and Måns was, as usual, totally unfazed and behaved in an exemplary fashion! The staff were amazed by how calm and untroubled he seemed to be. The only time he complained was when they were going to take the tape off his arms. The Wednesday finished with an ultrasound of his kidneys, which also were fine.

The next visit is in two weeks and then the physiotherapists will do their measurements again. Måns will also start on the medication then, so we have mixed emotions before the visit.

We would also like to take the opportunity to flag up the Gothenburg Half-Marathon, May 16 next year. For those of you who haven’t signed up yet, it is now time to do so! So far there are 30 of us who will be taking part, but the more the merrier! It should be noted that Petra and her mother have both registered for the race and are training hard, which is very impressive. So far we have two sponsors, Scandic International and Ystad Saltsjöbad. Thanks for your commitment to the cause!

Week 32
We are finally underway with the clinical trial. We spent two days at Queen Silvia’s children’s hospital in Gothenburg. The days consisted of a lot of tests for Måns, but also a whole lot of waiting. Because Måns is the first boy in Scandinavia to be involved in the study and because there are long checklists to go through and procedures to follow we had to take it easy and be patient. The tests which were done and which will be done every sixth week include a six-minute walking test, where Måns has to walk as far as he can in six minutes; measurement of muscle strength with a Myometer; memory tests with number combinations, blood tests and a general check-up. During the next visit they will do a muscle biopsy in the biceps, and then the drug will be start to be administered if all the tests are in order.

Måns was as usual really good through it all and considered it to be a positive experience. There was a lot to play with when the opportunity presented itself, and he enjoyed staying at the hotel – and getting to eat in a tuk-tuk at a Thai restaurant.

Week 31
We’re back home again after nearly two wonderful weeks in Italy. Måns loves the sun and the warmth, and enjoys swimming and diving in the warm water. But he was glad to come home – he said he had missed his toys. He had also missed his friend Viggo and they played together all day yesterday. Tomorrow evening we head up to Gothenburg and will stay the night in a hotel before we meet the doctor at Queen Silvia’s children’s hospital. It is a really exciting autumn we have ahead of us, but also one which is painful and full of anguish. All of a sudden it is reality – the thing that we normally try to forget. Måns is really doing fantastically well, and he is of course our special little boy. That’s why it is so difficult to grasp what lies ahead of him. But, as we’ve said before, we are positive and optimistic about the clinical trial and are keeping our fingers crossed that all will be well.

Week 29
We are in the middle of holidays with all the activities that go along with it, such as a Middle Ages festival and children’s theatre. A week or so ago Måns was at the children’s clinic in Ystad, and it was cheering to see that he has improved his results markedly in terms of both strength and suppleness. Some great news on the research front is that PTC and Genzyme have entered into cooperation on the development and marketing of the medicine PTC124. A lot of money is being invested – as things stand at the moment PTC is going to get around $300m initially. So as you will understand we have faith in the future!

The past week has been spent in our good friends the Thun family in Smögen, on the west coast of Sweden. The weather wasn’t exactly great, and neither was the campsite we stayed at. But we have good memories of crab fishing, tasty barbecues and singalongs in the cabin. The kids were well pleased with the whole trip, with the most fun being Nordens Ark and the crab fishing. Do have a look in the photo album.
Even though summer has been pretty good we have missed the real warmth, so we have finally decided to head south through Europe on a camping trip again. We leave on Monday and will visit Salzburg, Hitler’s eagle’s nest, Verona and Lake Garda. Of course there will also be sun and sand somewhere on the Adriatic coast, near to Venice. So now you won’t be hearing from us for a while! We’ll be back in two weeks – then it will be up to Gothenburg for the first visit to Queen Silvia’s children’s hospital.

Week 27
Wow, how time flies! Måns has turned five. Of course we celebrated in true style, both with family and friends. Check out the picture under the ‘photo album’ tab. The sun shone and it was wonderful summer weather. Måns is doing fine. He is much more supple and mainly runs around. Sometimes he is able to walk longer distances, such as when he is on an outing with preschool. There’s nothing wrong with his temperament either; he is always glad and positive and happy with life. We spent several sunny and wonderful days on Bornholm the week before midsummer. We did a repeat of last year’s trip, but this time Fredrik and my brother Daniel followed along. Altogether we were eight adults and four children and we rode from Rönne to Dueodde. It was a wonderful time, and we were able to fully charge our batteries. Måns was delighted, and it was great to see that he can keep up with everything the big kids do, even if he does it in his own way – a bit slower.

Last week Måns was at the children’s clinic to be weighed and measured. His weight is stable, but he is not following the curve when it comes to his height. Cortisone sometimes makes you stop growing, but fortunately this has not happened to Måns. He has grown 2cm during the last six months and is now 106cm tall.

On Sunday Måns was on a VIP visit to the Swedish Touring Car Championships at Sturup Raceway. Måns really enjoyed meeting Porsche driver Cralle Lindholm and seeing his car up close. We were given food and drink and the best seats in the stands. Thanks Johan Berg for making this day possible! Pictures from the race can be found here. Right now Måns and Ebba are on a caravanning holiday with Grandma and Granddad. We have a few child-free days and next week we are off on holiday. After that we will see how the weather is before we decide what to do. If this bad weather continues we will drive to Italy as we did last year.

Week 22
It is a long time since we last wrote, and a lot has happened. On Friday, May 23 Lyckebo Preschool arranged an exhibition of the children’s art to raise money for SMDF (Swedish Foundation for Muscular Dystrophy Research. It was a wonderful evening with beaming sunshine, a great crowd, good food and a funny clown. Pictures taken by Jonas Thun at this unforgettable evening can be seen here.

Then it was off to Stockholm on Friday May 30 for the year’s biggest challenge – the Stockholm Marathon. In the car on the way up the doctor responsible for the clinical study in Gothenburg called. Now it is arranged that Måns will go there on August 5 for a so-called screening – that is, weighing, measuring, and various checks such as breathing frequency, heart rate, blood pressure and so on. Afterwards an assessment will be made of whether or not he is a suitable candidate. It was good to get a date so we can start planning for this first meeting.
When we got to Stockholm we settled ourselves into Zinkensdamm hostel together with Li and André and then took a long stroll around Djurgården.
Saturday started with a hearty breakfast of porridge and protein drinks. Grandma Lena, who was also staying at Zinkensdamm, took care of the kids while Li and I went with the runners to the start. The atmosphere was fantastic, even if a lot of people’s nerves were showing and some were even too nervous to eat. We took pictures and met Neil Perera, who was sponsoring the team and who was also taking part. In total there were 13 runners, and about 50 t-shirts were handed out to family and friends who were in Stockholm on the day. The t-shirts attracted a lot of attention and many people asked about the picture. The race started at 2pm and at about 4pm we spectators could see the runners as they came down Västerbron. It was a magical feeling to stand there and watch this feat of endurance. The buzz and the atmosphere were amazing. It had a happy ending – all the runners reached the finish line, although with varied finishing times. The evening was rounded off with a great BBQ and party near Tantolunded. Pictures from the marathon can be found under “photo album”.

Week 19
We had lovely grown-ups’ weekend with some good friends in Berlin. We drove there on Thursday and stayed three days in the wonderful and exciting city. There was loads of shopping, good meals and cosy strolls through various neighbourhoods. A year ago when we got the news about Måns we never thought we would ever be able to enjoy something like this again. But we can! The kids had a great time with grandma and granddad. They went to Skånes Djurpark (safari park) and met cousin Sigrid. At the safari park Måns managed to go all the way round the “Tarzan track” and was naturally proud as a peacock afterwards. On Walpurgis Eve we went and collected Måns’ new “set of wheels” – a black and green supercool 16” bike with stabilisers. Because it is pretty hard for Måns to cycle we had to order a custom-built bike with three gears which has been regeared. Now he can pedal easily in first gear, even up the hill behind our house! But it didn’t go quite so well when he went down again; he rode so fast that he hit a stone and fell off. We heard the scream all the way from our garden. But it was only a little graze.
Stockholm Marathon is drawing closer and all the runners are now in full-on training. We are still waiting for shoes and shorts, but the T-shirts and caps have arrived. If you are in Stockholm on May 31 you can represent Måns with a T-shirt and a cap. Get in touch! Otherwise, life carries on and we are enjoying spring and the wonderful sun that has parked itself over Skåne and Ystad. Hope it lasts for ever…

Week 17
It has been a week of mixed emotions. On Thursday Fredrik went to Jönköping to take part in the international symposium on Duchenne Muscular Dystrophy. On Friday it was medical professionals who took part and listened to the various research results. The day was immensely rewarding, interesting and instructive and it was a privilege to meet so many leading people and specialists. There is a lot happening right now, and among them SMDF is paying for the patient register that is going to be set up both nationally and internationally. It is immensely important to have all patients’ mutations collected in one database, especially now when there is so much happening on all fronts.

On Saturday it was family day, and Petra and grandma Lena also came to Jönköping to listen and take in all the important information that was discussed. Måns has been accepted into a so-called Phase IIb study which will get underway in Gothenburg in August. A Phase I trial involves evaluating the safety of a compound through tests on healthy people. If this goes well, the compound goes on to a Phase II study to evaluate its efficacy. Phase IIb is the final stage before the compound can be approved by the authorities for patient use. The group will be divided into three categories, of which one will get a high dose, one a low dose, and one a placebo. Neither the patients nor the doctors will know who is in which group. The study will take place in Gothenburg, Stockholm and a number of other places around the world. The patients will be 165 boys from around the world aged over five who are still able to walk, and the trial will go on for 48 weeks, with examinations each third week. So there’s going to be a lot of trips to Gothenburg this autumn! Of course it will be with mixed feelings as it is not known for certain what the result will be, although very good results have been shown previously. If you want to find out more about the symposium you can visit SMDF’s website where there are film clips and information.

Ebba and Måns have been with Aunt Emely in Lund. It was an intensive and extremely fun Saturday for them, with visits to Kulturen, a trip to the city park, movies and shopping. When we picked the kids up on Saturday evening they were exhausted from all the activities and fell asleep in the car on the way home. But probably most tired of all were Micke and Emely who had never done so much in one day in their entire lives!

Week 16
Spring is on its way – at last! There has been much going on in the garden, as well as building of the deck. We have redone the sandpit, which is no longer used, into a greenhouse. Ebba and Måns have sowed carrots, lettuce and radishes, and it will be interesting to see if anything grows. Måns finished the week at the Swedish Touring Car Championships at Ring Knutstorp and it was a fantastic day with sun, fast cars, hot dogs and a lot of experiences when we went round the pit lane. And we just happened to bump into Prince Carl Philip who was driving in the Carrera Cup for the first time. Check out the new picture under “photos”.

Week 14
Måns has been to an eye specialist in Malmö to get his eyes checked as they can be affected by the cortisone treatment. There is a risk for cataracts, but fortunately there were no problems with his sight or retinas. The doctor said Måns had the eyes of a hawk….

Week 12
Our troubadour evening was a huge hit. Personally, we are super-happy with the event. Fredrik was admittedly a tad nervous but still impressed the 48 people in the audience – just think that he can play guitar too! Jonas once again did an honourable and brilliant effort. Of course we would like to thank everyone involved, as well as those who came along and by doing so made their own contribution to an unforgettable evening. Unfortunately we did not take so many pictures, but there are a few to look at under “photos”.

Our friend David Wiles has written a thought-provoking article in South of Sweden magazine which you can read here.

Week 11 (mid March)
Måns went to see the hand surgeon in Lund today. He cannot, as mentioned previously, bend his hands 90 degrees. This is however not a problem for his, but actually a benefit as the wrists will drop down as the muscle power decreases. Otherwise the doctor thought Måns was very agile and strong.
Meanwhile, we are all hyped up for the troubadour evening on Friday! The wonderful cards Aunt Emely has painted and Roger has printed are now ready. Read more under Art for Life.

Week 9 (late February)
On Monday there was the board meeting of SMDF and planning is well underway for the symposium in Jönköping on April 25-25. It should be interesting as many international speakers will be participating. This week a bright light has shone through the darkness: in the autumn (if all goes to plan) Sahlgranska and Karolinska hospitals will be running studies with PTC124 and exon skipping. PTC124 only works today on a particular gene mutation, and as luck would have it, it is just this mutation that Måns has. Of course we are extremely keen to take part in this study, and are keeping our fingers crossed. We don’t want to get ahead of ourselves, but it is fantastic that things are also starting to happen here in Sweden.
It will be sold-out at the troubadour evening on March 14. Forty-seven people have bought tickets. See Songs for Life for more info.

Week 8 (late February)
It has been half-term this week with lots of activities on the calendar. Måns and Ebba have been swimming with their cousins; met with Ingela (Petra’s aunt); visited Experimentariet in Copenhagen; and had cousin Filip visiting. Måns is longing for day-care, which starts again on Monday. We have had some good news from Måns’ doctor this week; Måns will not have to have further blood and urine tests as previous results have shown the levels are fine. He will have samples taken at his usual visits twice a year instead.
A couple of weeks ago Måns’ wrists and elbows were x-rayed because he can’t bend his wrists 90 degrees. The x-ray results showed there was nothing unusual with his skeleton, which was a relief. We will still meet a hand surgeon in March who will take a closer look as it is obviously quite unusual to have such a problem. It might not affect Måns in the future, but it is worth following up. Otherwise it is business as usual. Måns uses his splints like a pro and takes his medicine without a fuss.

Weeks 1-4 (January 2008)
January was a wonderful month! On New Year’s Eve we left the wind, rain and cold for four weeks in Thailand. The whole family loved it and it was great to get away from everyday life, daily schedules, and winter clothes. The children brought many wonderful memories home. We paddled kayaks, and rode on elephants and in tuk-tuks. We saw a whole load of animals, the best of which were probably the 1.5m-long lizards we saw when we stepped ashore on Koh Rok. We can strongly recommend Siam Ocean World in Bankok which Måns and I visited while Ebba and Petra were in Chinatown. It was fantastic to be able to see the world beneath the waves up close. Måns and Ebba made a lot of friends and spent many an evening catching hermit crabs on the beach. Måns has been more supple in the warmth and we have noticed the difference during his stretching exercises. The combination of the warmth and not exerting himself so much have probably helped. He only wanted to have the splints on for a couple of hours at night because of the heat. Take a look at ‘Photos’ where we have posted a load of pictures.