We're all Joining Jacks fight against Duchenne Musculare Dystrophy, are you?

Why Medical Innovation is Key


Our son Jack is everything a six-year-old should be. He is cheeky, excitable and a big softy at heart. He loves to make dens, play hide and seek and wave his lightsaber like a Jedi Knight. He enjoys school and cannot wait to begin his journey into the big wide world. But what our beautiful son does not yet know is that he has a terminal, incurable disease.

In October 2011 we received the shattering news that Jack has Duchenne muscular dystrophy (DMD). Failing a medical breakthrough, Jack's life will follow a predetermined path, mapped out by this progressive muscle wasting condition. In short, he will no longer be able to walk by the time he reaches adolescence and will lose the use of every single muscle in his body thereafter. He may need spinal rods to keep him upright and ventilation to help him breath. Eventually his heart and lungs will fail and he will die.

There are no words to describe the utter devastation felt upon hearing that your child's life will be cut short because there is no cure. We have had the greatest pleasure watching Jack develop into the amazing boy he is today but now, unbelievably, we must prepare ourselves for his steady decline. And the worst part? Seeing him struggle as his body wastes away and being absolutely powerless to help.

In 2012 we set-up the charity Joining Jack to fund research to develop treatments and hopefully one day a cure for Duchenne Muscular Dystrophy. And for the first time in the history of this terrible disease, there is now real hope. Hope and more than that, belief, that treatments are on the horizon. There are now drugs in various stages of clinical trials that show great promise, drugs that have shown to be successful in slowing down the progression of this disease.

Interestingly, there are a number of drugs that are currently being tested for Duchenne that are licensed for use in other conditions. An example is a drug that is presently used to treat cancer called Tamoxifen. The use of Tamoxifen has shown to remove muscle fibrosis and help increase muscle strength in Duchenne mice. A pilot study will hopefully be carried out shortly and will hopefully show the same results in DMD boys.

Because of the rapidly progressive nature of Duchenne, we need to have access to these potential treatments as soon as possible. To a person with Duchenne, the timescale of just three, six or nine months months can mean the difference between them losing the ability to jump, walk, lift a milk carton and breathe independently. We need to save as many of these functional abilities as possible.

As a parent I have made it my job to make sure I am aware of all the drugs that are currently being developed for Duchenne. I want my son's physician to be able to have an informed discussion with me about the various treatment options available, and for me to be able make suggestions that will be listened to and acted on if they feel they could potentially be the best course of treatment. In order to find a treatment for a rare disease like Duchenne, medical innovation is the only way forward!

Duchenne has a high level of unmet need. We desperately need to speed up the drug approval process, and I live in hope that the government will look to implement an early access to medicine scheme in the near future. I believe that people with terminal rare diseases should have the right to test drugs in clinical trials earlier than is currently allowed. Empower: Access to Medicine, which we also support, looks at another side of the same coin to Lord Saatchi's Bill.

In my opinion, if a drug for Duchenne has a tolerable safety profile, and shows evidence of slowing or stopping the progression of the disease during a phase 2 trial, everyone who wishes to have access to the drug should be allowed to take it. The Medical Innovation Bill will hopefully give clinicians the confidence to administer under these conditions.

They say that children with Duchenne accept it better than their parents but the day we tell Jack he won't be able to fulfil his dreams will be the toughest day of our lives. To know that we are facing a future without our beautiful son is impossible to believe. Please support The Bill for medical innovation. For me the risk of doing nothing is the fatal risk.

Lord Saatchi urges the public to seize a 'once in a lifetime' opportunity to change how medicine is practised in British hospitals.

Make your voice count.

Visit http://saatchibill.tumblr.com/ to let the Department of Health know what you think.

To learn more about Empowers, Access to Medicine Campaign visit http://www.accesstomedicine.co.uk/

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