An Interview with Professor Muntoni
Professor of Paediatric Neurology, Hammersmith Hospital
Written by Rory Clements, Health Editor of the London Evening Standard, May 2006
Kindly Reproduced with Permission of the Myotubular Trust
A few years ago, Professor Francesco Muntoni, would not allow himself to think of his young patients enjoying an adult life, because the chances were they would not survive that long. But today, significant improvement in clinical care and new breakthroughs in research are giving these children a real chance of living a full and long life. Treatments are now real possibilities, and curative strategies are starting to emerge.
Professor Muntoni, Professor of Paediatric Neurology at Imperial College in London, sees up to 20 children with Myotubular Myopathy from a list of 2,000 young patients who have the full range of neuromuscular disorders.
He explained that in recent years the outlook for children with Myotubular Myopathy has dramatically improved because of the revolutionary advances in the way their respiratory problems are managed. I am able to say to many families when their children are diagnosed, 'Look, the reality is that I now write many more letters referring people like your son or daughter to the adult services than I write letters of condolence to say I'm sorry your child didn't make it. It is very gratifying because it allows these people to attain their potential he said. But the hope is that research will open an entirely new set of doors.
While research currently being undertaken is sparse it is going on nevertheless, particularly in Toulouse, France, where the researchers are led by Ann Buj-Bello and in Boston, Massachusetts, under Alan Beggs.
The big hopes are stem cell technology and drug therapies. But money is desperately needed to fund research. And this, says the professor, is where charities such as the Myotubular Trust, have great value. It is useful for rare disorders to be recognised by having a specific charity. This can help families nd doctors to make contact with each other and to swap information. It also helps to increase the profile of the condition and raise funds for important research.
The money makes a huge difference, especially for this rare disorder where the amount of funds available for research can't compete with cancer or stroke or diabetes. The need is for brains. You want to drag people in, people developing ideas and pursuing them.
There are two main areas of research: 1) stem cell - to replace the defective engine i.e. to bring the muscles up to full power. 2) drugs - to modify the chemical signalling of the cells so that they function better.
Muntoni says: it is difficult to say which one will hit the clinic first. But I am more optimistic that in the next few years, we will see drugs that will work on this chemical signalling imbalance inside the muscle, although they may not produce a full correction of the problem.
There are at least three forms of Myotubular Myopathy, all of them genetic. So far, two of the genes have been identified. Genetic research, says Muntoni, is proceeding at the same pace as stem cell research.
In the meantime, there are things that can be done for children with the condition. Exercises can make a slight improvement. The good thing about Myotubular Myopathy (compared to other neuromuscular disorders, where there is a progressive loss of muscle strength) is that while the muscle itself works at a lower power it doesn't tend to deteriorate; if anything there may be modest improvement in the muscle strength.
Now I am making a collection of my ex-clients (as patients are called these days) who are professors at universities. We run a yearly course and I have invited one of my children; he is not a child, he is a professor of geography aged 27 to come and talk to doctors so that they can see that although he is physically very severely disabled, mentally he is scaringly clever.
It is a point that Muntoni, a warm, modest man is keen to make about those in his care. He feels that the public and, indeed, some doctors, have a misconception that children with conditions such as Myotubular Myopathy are in some way mentally impaired. This, he says, is emphatically not the case.
There is no intellectual impairment. Often, these children may have weakness in the facial muscles so they look as if they are slightly different which gives some people the false impression that they must be different on the inside. Not true.
Professor Muntoni is at pains to make it clear that his patients can have great lives, despite their disabilities. A number of studies have found that the quality of life of severely disabled children is much better than the professionals and parents thought it would be. In fact, it is not very different in terms of quality of life to that of children without physical disability.
He explains why this is so by asking me whether I am worried that I won't be winning the Olympic Games this year. Of course I'm not worried I have no ambitions in that direction. Running 10K on July 2nd will be quite tough enough for me. Why are you not worried says Muntoni. It's because that is not what you're focusing on, you're focusing on other things in life. But if you wanted to win the Marathon, maybe you would have been very depressed if you didn't win because that would have been the scope of your life.
In the same way, the scope of these children is different. The engine has been running at a lower power from the beginning so that is the level they are adjusted to, just as you are adjusted to a lower level than a Marathon runner without being any less happy. These children can have a good, independent life but they need help and they need to be prepared.
None of this makes it any easier for the parents, who might find their own lives made very tough by the practical aspects of looking after a disabled child. One of the problems of children with chronic conditions is that the provision of service is thin. It may take you a year and a half to get a wheelchair. Now if you need a wheelchair to get out of your home, that will affect the quality of your life and even more the life of your mother and father who are probably ringing the services every day to try to get you a wheelchair.
We are lucky to have Professor Muntoni in this country. He was born and brought up in the south of the Italian island of Sardinia and he has a large poster of a beautiful Sardinian beach on the wall of his cramped office at Hammersmith Hospital. During the long, dark days of winter he would be less than human if he did not sometimes wish himself back among the olive groves and the colours of the Mediterranean.
While doctors all know that they must maintain emotional distance from their patients, it is clear that he feels very involved in their welfare, almost as though they were his extended family.
It is very difficult for doctors to keep a balance between being too close and being too distant, he concedes. If you get too close it can become an emotional rollercoaster. The way you survive is by trying to make sure that each child is being treated as an individual entity and has the best possible care and you give 100 per cent.
It is good to talk to such a positive man. For those whose children are newly-diagnosed with Myotubular Myopathy or a similar disorder, it must be comforting to know that they have such a vital and compassionate person on their side.
This area of the website has been set up to inform parents of children diagnosed with Centronuclear / Myotubular Myopathy.