Living in hope for our boys
John Gorman has big expectations for 2009. He hopes that new research will find a way to slow or halt the progress of a devastating muscle wasting disease that affects his two young sons. This is his story as told to Fiona Tyrrell
TIME IS not on our side. My two sons, Lucas (6) and Noah (4), have a rare muscle-wasting disease called Duchenne muscular dystrophy (DMD). It is the most severe form of muscular dystrophy and normally affects only boys.
Both our boys were diagnosed in December 2007. The prognosis from the doctors was very negative.
Lucas is now on steroids and he will probably have one more good year before he will begin the gradual process of losing the ability to walk. By 10 he will probably be in a wheelchair.
The steroids are great. Lucas was never able to play soccer and now he is able to keep up with the other boys. He even learned how to ride a bike. My wife Anne and I have been trained in physiotherapy to keep the boys' muscles stretched. We are still waiting for occupational therapy.
In the UK, the life expectancy for those with DMD is between 27 and 28 thanks to new developments such as night ventilation treatments.
In Ireland the life expectancy is somewhere between the late teens and early 20s. Two young boys with the condition passed away this year in Ireland. The focus in Ireland is getting access to services. Treatment wise we were told that nothing was available and nothing would be happening for 10 years or more. That will be too late for us.
Since the diagnosis my wife and I have been attending conferences in the US and the UK. We saw that while there was lots of work going on all around the world, no research was happening in Ireland. We decided we had to push it. It would never get done if the parents of these boys don't do it.
Last April we and five other families set up a patient organisation called Duchenne Ireland with the aim of funding translational research into DMD. By translational research we mean not research for the sake of research. We mean research that has a prospect of improving the lives of this generation of boys.
Because it is such a rare disease we have to build strong international links.
There are a lot of barriers, for starters there is no official DMD registry here in Ireland. We don't know exactly how many boys in Ireland have DMD. We think it is somewhere between 150 and 200.
The UK DMD group has allowed us to join their registry, but we have encountered problems getting the National Centre for Medical Genetics to upload genetic diagnostic details of the boys onto the registry.
There are four clinical trials ongoing at the moment. If our boys are not on a registry they don't have a chance to be chosen for those trials. It is critical.
Since last April parents and friends of those with DMD have raised €200,000 for research.
Last July we issued a grant call and five international research groups have responded with proposals. An international review group will make the decision on which one to go with in a matter of weeks and we expect the research to begin early in the new year.
There are a number of exciting areas of research for DMD. One area of focus is Exon skipping, which is basically looking at how to skip faulty information at RNA level. Clinical trials are ongoing in the Netherlands and the UK and full-body trials will begin in 2009.
A worldwide clinical trial on a drug developed in the US called "PTC124" is also underway at the moment. If it works it is hoped it would correct the faulty genes in about 13 per cent of Duchenne patients, whose condition is caused by what is called a "nonsense mutation". If it works for DMD, it could work for those with many other rare diseases.
Another area offering hope is research looking at how to boost the production of another protein, which could replace the absent dystrophin in muscles. A healthy subject trial is planned for the first quarter of 2009.
No one knows how well any of these will work, but they do have the potential to change the lives of kids with DMD. Three to five years ago there was no hope at all.
Contact Duchenne Ireland on: (074) 9370076, www.duchenne.ie or e-mail firstname.lastname@example.org
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Duchenne muscular dystrophy is the most common and also the most severe form of muscular dystrophy. It affects about one out of every 3,500 boys with diagnosis usually taking place between the ages of three and five years.
Duchenne causes the rapid loss of muscle function leading to mobility problems, paralysis and eventually death.
About 66 per cent of all duchenne cases are inherited from the boys' mother. A third of duchenne cases diagnosed are not inherited but caused by environmental factors.
The disorder is caused by an error in the dystrophin gene, located on the X chromosome. This gene controls a protein, which is an essential element of muscle tissue. Without it, muscle cells break down and die.
There is currently no cure for duchenne.