Pompe Disease — House of Commons, 2017-10-31
Topic: Health
Nicklaus Thomas-Symonds (Labour, Centre-left): I am grateful to the hon. Gentleman. I entirely agree that support for the different centres across the country is absolutely vital. While we all know that health is a devolved matter, awareness is so important and is something that we can still promote across the United Kingdom My constituent’s particular issue with accessing treatment is that he falls into a category that does not have general commissioning for late-onset Pompe disease, meaning that he would be left having to make an individual funding request, only some of which are successful. However, the reality is that nobody has a chance of accessing the treatment if the disease is not diagnosed in the first place, which was the real challenge facing John Foxwell. His diagnosis took over seven years. Many consultants told him that his diaphragm was paralysed—that was pretty obvious—but they made no link to the disease that was causing the paralysis. John went through some incredibly difficult periods of low appetite, when he was living only on jelly and milkshakes. Unable to function and to continue with the wonderful career that I described, he moved back to Wales, where he was originally from, to die Then the diagnostic break came. Nevill Hall Hospital, Abergavenny, is in the constituency of the hon. Member for Monmouth (David T. C. Davies), but none the less it serves a number of my constituents in Torfaen. A respiratory consultant at the hospital gave my constituent a mechanical respirator, which helped him significantly. In addition, he was advised to see a neurologist, who conducted a series of tests, including a genetic test that finally identified late-onset Pompe disease Pompe disease is incredibly complex, and it requires a multi-disciplinary approach. The medical disciplines required include geneticists, pulmonologists, neurologists, cardiologists, respiratory therapists, physiotherapists, dieticians and clinical psychologists. Conditions that cross the medical disciplines in that way are, of course, a challenge for our NHS across the country, but it is a challenge that we can and must meet I will conclude with an email that my constituent sent to me, which shows where he is at the moment: "Now I am almost a recluse as I find that leaving the house is extremely challenging. I don’t know the future, but I do know, from statistical testing in other countries, that there are many more people with Pompe Disease out there that are needing to be diagnosed and that I want to be able to assist…in understanding the disease and supporting them when they need help. I am creating Pompe Wales, a Pompe Disease specific charity, to be able to help others who have Pompe, to be able to make the medical professionals aware of Pompe and its symptoms and to link with other Pompe organisations around the world" That shows that those who suffer from the disease, named after Dr Pompe, share characteristics with him—they are determined and courageous. But, for them to be able to fight this disease, it must first be identified. The only way to do that is to raise awareness across the medical professions. Nobody should suffer unduly because of falling victim to a disease that is extraordinarily rare.