Ben
My life with Pompe.
I was diagnosed with Pompe’s in November 2007 after only about a year and a half of testing and jabbing and more testing. I am one of the real lucky ones, because I wasn’t misdiagnosed for year after year after year and I was put on Enzyme Replacement Therapy pretty quick (April 2008 to be precise). The hope was that it would stop the deterioration of my body and muscles getting any worse than it was. I didn’t have to fight to get the treatment, my doctors knew that it would enhance my life and save me from a lot of physical and mental torture in the years to come. I still am amazed to hear that there are countries in today’s world that don’t consider Enzyme Replacement Therapy to be a life saving/enhancing treatment and don’t help the people who suffer this disease which if not treated is an awful debilitating one.
This is a photo of me somewhere in Australia. My favourite team is Stoke!
Up until the point of diagnosis my life had been a pretty normal one, or what I considered to be normal. Me and my doctors had always put the weakness in my back and low lung capacity down to me having a slight car accident when I was seventeen (someone drove into the back of me when I was stationary) and having always suffered with Asthma and also the fact I am 6ft 7”. I was never a very active child and I didn’t start walking until I was nearly 3. I used to shuffle around on my bum to get to places so my mum tells me.
I never really enjoyed taking part in any sports activities through school (except basketball, due to the obvious height reasons!). Now I look back at my life it makes a lot more sense than it ever did. I could never do sit ups, or forward rolls and used to always get told I was just lazy and didn’t put any effort in. I have always walked with a very straight back and I stick my chest out to compensate for the lack of strength. I managed because I thought it was just part of being me.
It wasn’t until I started to travel that I knew something wasn’t quite right. The first signs were when I was travelling around Australia. We were all playing a game of football in the park and for once I felt like I would have a kick about. But every time I tried to run anywhere, after literally two steps, my back from the waist up would just fold over so the top half of my body would be virtually horizontal. I blamed myself for a lot of this and always thought it was because I didn’t do any exercise. This used to get me down a lot and only since being diagnosed and understanding Pompe’s have I been able to shift that blame away from myself.
From my late teens onwards I suffered with a lot of eating problems and depending on what food I ate I could be in agonising pain with indigestion and heartburn for anything from 2 to 4 hours after. Eating some foods would send me into a food coma where I wouldn’t or couldn’t move for a long time afterwards. So during the last 12- 14 years I have slowly learned what foods I can and shouldn’t really eat. This has changed the older I have got and now I am pretty competent at knowing what is good and bad for me, but it took a lot of time and a lot of sitting around in pain. I would have days where I didn’t want to move at all and just thinking about making myself some food would tire me out.
A few years after travelling Australia I got the bug and decided to pack my belongings and head across the pond to Canada, where I spent a year out there travelling around, meeting lots of friendly people and loved every minute of it. The down side to it was that my Pompe started to really kick in. I lost a lot of weight and muscles all over my body but mostly in my thighs and legs. I started to fall over everywhere, whether it would be standing waiting to cross the road or walking down the street my knees would just give way and down like a sack of potatoes I went and again being 6ft 7” it’s a long way to fall down. I started by just laughing it off and thought it was just me not paying attention to what I was doing but as the year wore on the falls became more frequent and dangerous. Due to this I lost all confidence in my body and belief in myself. I started to struggle doing simple things, like walking up stairs I needed more support than I normally did, I was struggling carrying my bag and often the weight of the bag would send me crashing to the floor. I used to get out of breath walking up hills and even up a slight gradient I would be out of breath after 50 metres. My fear of heights, which I had in the past few years previously conquered came back to haunt me with vengeance. To the point where even walking down a flight of stairs would take me at least twice as long and three times slower than before. I came back from Canada knowing something wasn’t right and I had to work out what it was.
I was diagnosed with Pompe’s in November 2007 after only about a year and a half of testing and jabbing and more testing. I am one of the real lucky ones, because I wasn’t misdiagnosed for year after year after year and I was put on Enzyme Replacement Therapy pretty quick (April 2008 to be precise). The hope was that it would stop the deterioration of my body and muscles getting any worse than it was. I didn’t have to fight to get the treatment, my doctors knew that it would enhance my life and save me from a lot of physical and mental torture in the years to come. I still am amazed to hear that there are countries in today’s world that don’t consider Enzyme Replacement Therapy to be a life saving/enhancing treatment and don’t help the people who suffer this disease which if not treated is an awful debilitating one.
This is a photo of me somewhere in Australia. My favourite team is Stoke!
Up until the point of diagnosis my life had been a pretty normal one, or what I considered to be normal. Me and my doctors had always put the weakness in my back and low lung capacity down to me having a slight car accident when I was seventeen (someone drove into the back of me when I was stationary) and having always suffered with Asthma and also the fact I am 6ft 7”. I was never a very active child and I didn’t start walking until I was nearly 3. I used to shuffle around on my bum to get to places so my mum tells me.
I never really enjoyed taking part in any sports activities through school (except basketball, due to the obvious height reasons!). Now I look back at my life it makes a lot more sense than it ever did. I could never do sit ups, or forward rolls and used to always get told I was just lazy and didn’t put any effort in. I have always walked with a very straight back and I stick my chest out to compensate for the lack of strength. I managed because I thought it was just part of being me.
It wasn’t until I started to travel that I knew something wasn’t quite right. The first signs were when I was travelling around Australia. We were all playing a game of football in the park and for once I felt like I would have a kick about. But every time I tried to run anywhere, after literally two steps, my back from the waist up would just fold over so the top half of my body would be virtually horizontal. I blamed myself for a lot of this and always thought it was because I didn’t do any exercise. This used to get me down a lot and only since being diagnosed and understanding Pompe’s have I been able to shift that blame away from myself.
From my late teens onwards I suffered with a lot of eating problems and depending on what food I ate I could be in agonising pain with indigestion and heartburn for anything from 2 to 4 hours after. Eating some foods would send me into a food coma where I wouldn’t or couldn’t move for a long time afterwards. So during the last 12- 14 years I have slowly learned what foods I can and shouldn’t really eat. This has changed the older I have got and now I am pretty competent at knowing what is good and bad for me, but it took a lot of time and a lot of sitting around in pain. I would have days where I didn’t want to move at all and just thinking about making myself some food would tire me out.
A few years after travelling Australia I got the bug and decided to pack my belongings and head across the pond to Canada, where I spent a year out there travelling around, meeting lots of friendly people and loved every minute of it. The down side to it was that my Pompe started to really kick in. I lost a lot of weight and muscles all over my body but mostly in my thighs and legs. I started to fall over everywhere, whether it would be standing waiting to cross the road or walking down the street my knees would just give way and down like a sack of potatoes I went and again being 6ft 7” it’s a long way to fall down. I started by just laughing it off and thought it was just me not paying attention to what I was doing but as the year wore on the falls became more frequent and dangerous. Due to this I lost all confidence in my body and belief in myself. I started to struggle doing simple things, like walking up stairs I needed more support than I normally did, I was struggling carrying my bag and often the weight of the bag would send me crashing to the floor. I used to get out of breath walking up hills and even up a slight gradient I would be out of breath after 50 metres. My fear of heights, which I had in the past few years previously conquered came back to haunt me with vengeance. To the point where even walking down a flight of stairs would take me at least twice as long and three times slower than before. I came back from Canada knowing something wasn’t right and I had to work out what it was.
June '06 looking thin
About a year after returning from Canada I decided that my doctors weren’t listening to my pleas and I went to a Physiotherapist of my own accord to see what help they could give me. At my first appointment she asked to look at my back and said to me you seem to be missing a lot of important muscles in your back. As you most probably could imagine this took me aback and sent me into a whole world of the unknown. She wrote a letter to my doctor and asked them to do more intensive tests to find what the problem was. As I said earlier it took about 18 months to 2 years to get diagnosed and it was only after a muscle biopsy that they could actually specify that the problem was Pompe.
Since being diagnosed and put on Enzyme Replacement Therapy my life has taken a massive U-turn and all for the better, both physically and mentally. My body is responding more to my brain than it was. I seem to be more aware of what I am doing and I know my limitations. I find I have more energy than before and use it only on what is important now. My eating habits have become more relaxed because since having Enzyme Replacement Therapy I can seem to eat more normally and not suffer with hours of indigestion and tiredness. I have actually put on weight for the first time in my life and I believe this is all down to Enzyme Replacement Therapy. My falls are less frequent and I have only had one or two in the past year, compared to 10 or plus in the year I was in Canada.
I used to work in catering. Managing a small very busy catering shop in the town I live in, working anywhere between 40 – 60 hrs a week. I now know that this was not the right line of work to be in and did me more harm than good. I now volunteer as an advocate helping people with disabilities whether it is a physical or mental one. The job is very rewarding and doing a small bit for someone else in a bad situation makes me feel like I am helping and has had a massive impact on my life. I now study at college and I’m doing a counselling course which I hope to carry on and further myself in this line of work, which I think I am suited perfectly for. I have come up against many problems since being diagnosed due to labelling, discrimination and professionals and management not understanding the daily wear and tear our bodies have to go through and the pain it causes. This has only made me more determined to stand up for what I believe in and try a little to help others in need. I guess I am trying to say that not only has the treatment helped my health and physical side out no end, it has also helped my mental health out and allowed me to get on with my life to a point where I am happy now, where previously I wasn’t.
Since being diagnosed and put on Enzyme Replacement Therapy my life has taken a massive U-turn and all for the better, both physically and mentally. My body is responding more to my brain than it was. I seem to be more aware of what I am doing and I know my limitations. I find I have more energy than before and use it only on what is important now. My eating habits have become more relaxed because since having Enzyme Replacement Therapy I can seem to eat more normally and not suffer with hours of indigestion and tiredness. I have actually put on weight for the first time in my life and I believe this is all down to Enzyme Replacement Therapy. My falls are less frequent and I have only had one or two in the past year, compared to 10 or plus in the year I was in Canada.
I used to work in catering. Managing a small very busy catering shop in the town I live in, working anywhere between 40 – 60 hrs a week. I now know that this was not the right line of work to be in and did me more harm than good. I now volunteer as an advocate helping people with disabilities whether it is a physical or mental one. The job is very rewarding and doing a small bit for someone else in a bad situation makes me feel like I am helping and has had a massive impact on my life. I now study at college and I’m doing a counselling course which I hope to carry on and further myself in this line of work, which I think I am suited perfectly for. I have come up against many problems since being diagnosed due to labelling, discrimination and professionals and management not understanding the daily wear and tear our bodies have to go through and the pain it causes. This has only made me more determined to stand up for what I believe in and try a little to help others in need. I guess I am trying to say that not only has the treatment helped my health and physical side out no end, it has also helped my mental health out and allowed me to get on with my life to a point where I am happy now, where previously I wasn’t.
This happy, healthy picture was taken January 2011 with my cousin Amanda
The Enzyme Replacement Therapy has stopped the deterioration of my muscles and keeps me at the strength I am at, which is a massive thing because I reckon at the rate I was going it could of been only a few years until I needed more walking aids or even a chair to help me get around. My breathing hasn’t improved dramatically, there is some improvement but more importantly it hasn’t got any worse and when I get out and go for walks I find that walking up hills or a slight gradient I am not as out of breath as I used to be and don’t put as much pressure on my chest as I used to when walking.
Enzyme Replacement Therapy in short has helped my life more than I could say in this story. It has given me a sturdy base to build my life on where before the base was constantly unstable and uncertain and the future was very dark. It has helped me achieve things in my life I always thought I couldn’t because of how I was feeling constantly, physically and mentally. It has put my life on track again after a turbulent time and given me back my independence and more importantly given me a future.
I would love to see Enzyme Replacement Therapy available to everyone around the world no matter what country we live in or who we are. This is a very serious disease which needs doctors around the world to know just how serious it is. I am one of the lucky ones as I stated at the start, governments and doctors around the world need to know just what an impact Enzyme Replacement Therapy can have, it isn’t fair that people still can’t get the treatment because of bureaucracy, red tape and funding. My wish would be that we are all treated fairly and equally in this issue. Pompe Power!
Ben Parker – 31
Enzyme Replacement Therapy in short has helped my life more than I could say in this story. It has given me a sturdy base to build my life on where before the base was constantly unstable and uncertain and the future was very dark. It has helped me achieve things in my life I always thought I couldn’t because of how I was feeling constantly, physically and mentally. It has put my life on track again after a turbulent time and given me back my independence and more importantly given me a future.
I would love to see Enzyme Replacement Therapy available to everyone around the world no matter what country we live in or who we are. This is a very serious disease which needs doctors around the world to know just how serious it is. I am one of the lucky ones as I stated at the start, governments and doctors around the world need to know just what an impact Enzyme Replacement Therapy can have, it isn’t fair that people still can’t get the treatment because of bureaucracy, red tape and funding. My wish would be that we are all treated fairly and equally in this issue. Pompe Power!
Ben Parker – 31
