Funding Translarna means we still have hope Rachel Monday, 1 December 2014 No Comment

Was Rachel being a little paranoid when she said something was wrong? Ben wouldn’t do the things she had read about avidly both during pregnancy and after he was born. He missed milestones and we even moved house so that he wouldn’t have to go to the tiny village school – we thought he needed pushing more – so we moved and thought we’d solved a problem for our ‘laid back’ happy little boy.

The date is etched in our memory. We’d gone to have a test at the hospital, and despite a slight worry we went away for the night after the test with Ben. We were carefree. Rachel was 3 months pregnant and we were doing ok. Good jobs, nice house, you know the score. Returning home the day later we listened to the answer machine (it was 2003) and our consultant told us to ring her as soon as possible. The problem was it was 8pm. We rang friends and family in a panic. They told us to calm down – it wouldn’t be anything serious. The next day our world fell apart. Along with most other parents we had never heard of muscular dystrophy, let alone Duchenne.

We were told, like all parents of a child with Duchenne, that our son would be in a wheelchair by the age of 11, we were told that life expectancy was early 20’s and most devastating of all we were told there was no cure. We staggered through the next few months and then, like many others in the same position, life became almost normal again but with an underlying sense of sadness. We found the Muscular Dystrophy Campaign on the internet and over the years became involved with fund raising. We had to do something. The Great North Run became an annual event for friends and family -it still is – and Charity Balls raised tens of thousands. We were put in touch with others parents and they put us in touch with PPUK – Action Duchenne as it is now. Suddenly there seemed to be the slightest glimmer of hope. Drug trials and potential treatments were being spoken about as real possibilities and for the first time since diagnosis we allowed ourselves to believe that a treatment could be on the horizon. We signed up to the DMD registry to ensure we would have a chance to take part in any potential trial. When you have a child you never imagine that you would ever consider putting them through a drug trial; when you have a child with Duchenne it is an opportunity you grab because the alternative is just too horrific to contemplate. We had followed the progress of PTC124 through numerous articles and speeches at the conference because we knew Ben would be eligible if trials took place.

Ben participated in the original trial for PTC124 aged 7 in 2008. PTC124 became Ataluren and more recently Translarna. Ben takes this as a powder mixed with (in our case) water 3 times daily at intervals of 6 hours. Before the trial Ben was mobile and only used a wheelchair for distances.

The trial was a double blind trial: both ourselves and the clinicians had no knowledge of which boys were on the placebo, the low dose or the high dose. The drug's purpose, as we understood it, was to read through the nonsense mutation and this is why it would only ever be effective for around 13% of boys. We were aware from a very early stage how crucial this trial was to the whole Duchenne community. It was the first of its kind but because it only targeted some boys our feelings of elation were tempered with feelings of guilt. Like all parents we want to see an end to the condition for all our children.

Being part of the trial meant that Ben had to go to the study centre every 6 weeks. This meant an overnight stay due to the distance and the requirement of fasting bloods early in the morning. Ben had a muscle biopsy before starting the trial (and after 48 weeks) and throughout had to do various tasks and blood tests, both for safety and efficacy. The main test was the 6 minute walk test (6MWT) – measuring how far he walked in this time.

As a parent of a child with Duchenne you watch every move more closely. This became even more intense as we watched every move looking for improvement. This started the very first day after he took the drug for the first time. We described the chance of participating in the trial to family and friends as being so fortunate. They looked at us bemused in describing our days on the train and frequent visits to see our son put through the demands of the trial. It wasn't easy. It felt like living in a parallel world every few weeks.

We thought we saw a difference quite soon after starting the trial but of course we didn't know if Ben actually was taking the drug or was on the placebo.  So we were at first unsure whether he seemed to be doing more because we wanted it to be working or whether he actually was showing signs of improvement. Friends and family also began to comment on things he was doing. As the trial progressed Ben seemed to have the ability to keep going for longer. He could not necessarily go faster but he didn’t stop so soon. On one particular day in summer, when Ben was on the trial, we went to a farm with an indoor soft play area. We arrived at the farm when it opened at 10.30 and we did not leave until 3.30pm. Ben played in the soft play area at the beginning of the day and seemed to cope more easily with the obstacles. Throughout the day Ben walked around the farm – a huge incentive for Ben – but even keeping this in mind he did keep mobile. At the end of the day Ben went back into the play area and was able to, again, play with his brother. We had previously been to many similar places and Ben had never done as much or stayed as mobile for as long. At the time we were stunned and both discussed the fact that our day was how we would imagine a “normal” family day out to be.

Our world came crashing down when the trial was stopped suddenly after 15 months. We had to hand over any drugs that were unused. How could we give back something that was going to help our son walk for longer?  We were devastated - it felt almost like Ben had been diagnosed with the condition again. We read every press release avidly to try to see a glimmer of hope so that he could take the drug again. We argued with clinicians about how it was working so well. We had found out that Ben had been taking the low dose – the one that had been proved to be more effective measured by the 6MWT.

In 2013 an extension trial finally started again. There is still the safety tests and efficacy. The efficacy is largely via the six minute walk test and North Star.

We are fairly certain – although we can’t be 100% - that Translarna has slowed down the progression of Duchenne in Ben. It’s like making sure you put the best oil in your car. You know the car is getting older, but the parts keep working for longer. He is doing very well at 13¾ - he is still walking short distances.   The rest of his 'care' is pretty good too. As a family we try to ensure the other aspects of protecting Ben from the ravages of this awful condition are maintained: nightly stretches and splints, he doesn't do stairs as we have mostly lived in a bungalow, his diet is pretty good too.

Being on a trial is such a roller-coaster.  Your hopes are high but you never know what’s around the corner. It’s tough, it’s emotional, but this is your child. We would do it all again in a heartbeat.

As the drug has got closer and closer to being available it means other drugs are closer to being available too. It increases confidence in the treatment of Duchenne and paves the way for other trials to help all of those affected by this awful condition. Translarna has given us hope – it’s given Ben hope. He would rather not take this chalky drink 3 times a day, but he does because he knows in his own small way that it’s giving him a chance to keep walking. Is that too much to ask? Funding Translarna means he and others get that chance – there’s not much else out there yet.

Please sign the petition set up by the Duchenne Community:

Thank you for your support
Bernie and Rachel Mooney
79 is hosted by Nick Catlin

Nick Catlin has a son Saul who has Duchenne Muscular Dystropy. He is a founding member and previous CEO of the Charity Action Duchenne. Nick now works with young people with Duchenne and their families at Decipha assessing for Special Education Needs and advising on reviewing Education Health and Care Plans.

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