Pompe Disease

Jim Shannon Excerpts

Tuesday 31st October 2017 Commons Chamber

[Nick Thomas-Symonds (Torfaen) (Lab)]

I am delighted to have secured this debate to raise awareness of the very rare condition known as Pompe disease. I hope that the very holding of this debate will contribute to that, and I look forward to the Minister’s response, and hope that he will set out some constructive suggestions on what we will do going forward to deepen knowledge and understanding of this awful disease.

My journey towards an involvement with Pompe disease and securing this debate began when I was visited in my constituency surgery by my constituent John Foxwell. He is a polymath. He is an award-winning author and publisher, specialising in communication technology. He worked for his community, too. He lives in my constituency at present, but he previously lived in Devon where he was both an elected councillor and served as mayor, and was also a trustee and director of his local food bank.

Drawing widely on his experience as a teacher and headteacher, John Foxwell has contributed to UK Government policy over the past 20 years. He has managed national educational projects including the first education action zone and the Building Schools for the Future project, and contributed to education White Papers. His reports on education have been drawn on by international companies. Prior to that, he worked in buying and merchandising for a multinational cycle and auto retailer. Knowing the importance of communication, he also founded companies that assisted those who come to the UK from other countries, developing translation tools and assisting community cohesion.

Now, however, John Foxwell has had to leave that remarkable career behind him. He has to spend up to 15 hours a day on a mechanical ventilator to enable him to breathe, as his diaphragm is paralysed. He cannot walk far, or lift or bend or lie flat—if he did, he would struggle to breathe—and he falls easily. A common cold could cause him to go into respiratory failure and die. His life expectancy is significantly reduced. His wife has had to give up her own job to look after him. She is one of an army of carers across the country whose work needs to be recognised right across the House.

John Foxwell is one of only about 150 people in the UK who have Pompe disease. The condition is named after a Dutch medic called Joannes Cassianus Pompe. Given that he was Dutch, his surname was probably pronounced “Pompa”, but the disease has become known as “Pompey” disease. He was born in Utrecht in September 1901, and later studied medicine at the city’s university. His breakthrough came in December 1930, when he carried out a post-mortem on a baby girl who had died at the age of just seven months. He discovered that her heart had become enlarged and that the muscle tissue in the heart had become like a mesh. He thought that a substance build-up was causing that to happen to the heart muscle and came to the conclusion that that substance was glycogen. In other words, the sugar strings that store energy in cells had not broken down as they should have done, due to a faulty gene inherited from the little girl’s parents.

Dr Pompe became a pathologist at the Hospital of Our Lady in Amsterdam in June 1939, and after the German invasion of the low countries in the second world war, he became a part of the Dutch resistance. He was involved in finding places for Jewish people to hide from Nazi persecution. His laboratory at the hospital housed a radio transmitter that was used to send messages from the Dutch resistance to the United Kingdom. He was eventually arrested by the Nazis in February 1945, after the transmitter was detected. On 15 April 1945, he was executed as part of a reprisal for the Dutch resistance blowing up a railway bridge. The discoverer of this disease seems to have been a very brave man indeed.

Dr Pompe had discovered what came to be known as the first category of the disease, the infantile variety that presents in small babies who fail to thrive, and that often leads to death from heart failure in the first year of life. Life expectancy in those case is, alas, less than two years. The second category is “late onset” where, as the name suggests, symptoms do not become apparent until later on in life. As is the case with my constituent John Foxwell, progression is generally slower, but it is characterised by skeletal muscle wasting that causes mobility issues and breathing problems.

Those who suffer from the disease receive support from Muscular Dystrophy UK—I put on the record my thanks to it for sending a briefing in advance of this debate—and the Association for Glycogen Storage Disease (UK), which also provides support to sufferers here. The standard treatment for Pompe disease is enzyme replacement therapy. The faulty gene that is inherited from sufferers’ parents stops the creation of an enzyme called acid alpha-glucosidase—I will refer to it as GAA from here on—that breaks down the sugar strings of energy in muscle cells. The enzyme replacement therapy involves a genetically engineered enzyme that assists with regulating glycogen—the sugar strings— and is received into the body by regular infusions. The trade name for the enzyme is Myozyme, which is available from the pharmaceutical company Sanofi Genzyme.

The availability of Myozyme differs slightly around the country. In England, it is directly commissioned by NHS England under specialised criteria. In Wales, where my constituent lives, the All Wales Medicines Strategy Group recommended to the Welsh Government that Myozyme should be endorsed within the NHS in Wales for the treatment of Pompe disease, but there is a specific restriction in that it is not endorsed for late-onset Pompe disease on grounds of insufficient evidence of clinical effectiveness.

[Jim Shannon (Strangford) (DUP)]

I congratulate the hon. Gentleman on presenting such a wonderful account of the gentleman involved in the history of the disease. Like others, I have been contacted by Muscular Dystrophy UK, and rare diseases come up here often and are a particular interest of mine. This is ultimately a question for the Minister, but does the hon. Gentleman agree that the Department of Health must ensure that there is adequate support for the centres across the UK that provide highly specialised care for patients with this rare muscle-wasting disease? I think the Minister will respond to that, but the hon. Gentleman’s speech encapsulates what we are all trying to achieve here.