On Tuesday 31st October, Nick Thomas-Symonds, Member of Parliament for Torfaen held an Adjournment Debate in the Chamber of the House of Commons to raise awareness of Pompe disease.

Mr. Thomas-Symonds’ constituent John Foxwell has been a former professional dancer, an award-winning publisher and author, specialising in communication technology. Drawing on his experience as a teacher and head-teacher, he managed national government projects including Building Schools for the Future, and worked on Education White Papers. John now spends around 15 hours a day on a mechanical ventilator to be able to breathe, as his diaphragm is paralysed. He cannot walk far, or lift, or bend, or lie flat, and falls easily. His carer, his wife, had given up her job to look after him. A common cold could cause him to go into respiratory failure and die.  His life expectancy is significantly reduced.

Pompe disease, named after Joannes Cassianus Pompe who discovered the first category of the disease in 1930, currently affects 150 people in the UK including John.

It presents itself in two forms; infantile, where it presents in small babies who fail to thrive, and often leads to death from heart failure in the first year of life, and late onset, where its symptoms do not become apparent until later on when progression is generally slower. It is characterised by skeletal muscle wasting that causes mobility issues and breathing problems.

The standard treatment for Pompe disease is Enzyme Replacement Therapy by which a genetically engineered enzyme that assists with regulating glycogen infused into the body.  To have any chance at all of accessing this, and lengthening life significantly, the disease has to be diagnosed.  John’s diagnosis took over 7 years to be confirmed. Many consultants told him his diaphragm was paralysed, but made no link to the disease causing it. Unable to function any more, he moved back to Wales, where he was originally from, to die.  Then, the break came. A respiratory consultant in Nevill Hall Hospital, Abergavenny, gave him a mechanical respirator which helped him significantly, and suggested he see a neurologist who conducted a series of tests, including a genetic test, that identified late-onset Pompe Disease.

Mr. John Foxwell stated:

“When I was diagnosed with Pompe Disease, I quickly learnt that it was a terminal illness that would slowly rob me of my ability to live a normal life. There is no cure, but there are treatments and good management that can delay or improve the effects on the body.

With research information coming in from all around the world we are learning that unlike the UK where diagnosis is only 1 in 434,000 people it is more likely to be 1 in 20,000. This means that there could be hundreds, if not thousands, that are undiagnosed or misdiagnosed all facing an uncertain future with debilitating symptoms and premature death. This can be avoided if more medical professionals are aware of the symptoms of Pompe Disease. I owe my diagnosis and extension of my life to the respiratory consultant, Dr Matthew Jones, and neurologist, Dr Ken Dawson, at Neville Hall Hospital and my extended care to Dr Duncan Cole and staff at the Metabolic Unit in Cardiff University Hospital.”

Speaking about the issue, Mr. Thomas-Symonds stated:

“I first appreciated the challenges faced by those with Pompe Disease when a constituent came to my surgery earlier this year.  I spoke about that constituent in the debate tonight.  This constituent took seven years to be diagnosed.  For this to improve, and for diagnosis to be quicker, we have to raise awareness.  I hope this debate will go some way towards starting to achieve that.”

 

To watch Nick in the debate, click here.

Recent Posts