All through life I struggled with everyday things and couldn’t understand why. I couldn’t do sit ups or run during PE when I was a child. As an adult I had difficulty bending over or breathing while laying down. It started getting worse around 10 years ago when I used to travel for work, I found I’d have to sleep in a hotel room chair. I was the Mayor of Devon town at the time and I was finding it a lot harder to breathe. I could barely eat or drink. I genuinely thought my time would soon be up, so I returned to my home in South Wales.
It sounds strange, but I was so relieved after my diagnosis. Once you know your condition, you can work around it. Obviously, you need to be careful, but you can lead a normal life within your own boundaries.
I was relieved by my diagnosis
When doctors listened to my breathing, they had always dismissed me and said my lungs sounded fine. But I was referred to a specialist who discovered I couldn’t breathe out carbon dioxide. The problem was with my diaphragm and not my lungs. I was given a Bipap, which is a breathing machine, and the improvement was incredible and instant.
It sounds strange, but I was so relieved after my diagnosis. Once you know your condition, you can work around it. Obviously, you need to be careful, but you can lead a normal life within your own boundaries.
Creating a Pompe information website and products
I wanted people to have a simple reference point they could go to for Pompe related questions that wasn't all doom and gloom.
After the initial adjustment, I was surprised how few up-to-date resources were out there for people with Pompe. My neurologist couldn’t give me a definite list of condition symptoms, and I couldn’t find a list on the internet either. This was when I created my website.
I wanted people to have a simple reference point they could go to for Pompe related questions that wasn't all doom and gloom. I used Facebook and Google to connect with doctors and people all over the world to create a list of Pompe symptoms. This now gets sent to consultants so that newly diagnosed individuals don't have to leave the hospital feeling confused about questions that haven't been answered.
In recent years I’ve made a few other Pompe related products. I created QR codes on keyrings for medical staff to scan in an emergency, as treating someone with Pompe is very different from other conditions. For example, if you laid me flat and gave me oxygen, I would stop breathing.
Diet can be a big factor in maintaining muscle strength for people with Pompe, and following a high protein, low sugar and carb plan has particularly been shown to help. So, with the help of the Pompe community and the Pompe Support Team, we created a recipe book which can now be downloaded for free on my website.
Hope and education
Children diagnosed with Infantile Pompe disease need fortnightly Enzyme Replacement Therapy. I can only imagine how scary it is for a child to have so many hospital trips, which is why I love being part of the Hope Travels Project. It sends a cuddly sloth, called Hope, to children all around the world who are diagnosed with Pompe. Because nobody should be without hope when going for treatment.
The only thing as important as hope is education. In my younger days I was a primary school teacher and then a headteacher. I always said that education was the biggest thing that can change a person’s life. And I believe that now more than ever.
Educating medical professionals about Pompe is so important, because only through raising awareness do more people get diagnosed and supported.
I speak at as many events as I can to promote Pompe. I recently narrated an informative animation for the pharmaceutical company Amicus to present to medical departments. It was a great experience. Supporting Muscular Dystrophy UK (MDUK) is also really important to me. I contacted the charity after I was diagnosed when I was looking for a support programme, and they were great. I’ve spoken at a number of MDUK events and I’m excited to be representing all things Pompe at the forthcoming Wales Information Day in April.
I’ve always believed everything happens for a reason. When I was 40 years old, I was rushed to hospital with a blood clot. After I recovered, I decided to work in the hospital helping people who had bloods clots and were coming to terms with it. I guess I looked at my Pompe diagnosis in the same way. I try and find a reason for what’s happened and make something good come out of the situation. It doesn’t work for everyone. But it works for me.