Age 50 | Cromer, UK
Living with Pompe
“When you’re going downhill so rapidly, particularly with a wife and children the fear is inexplicable. Because you just don’t know where you’re gonna end up. Little
things prey on your mind.” - Simon
The guide spent days teaching Simon how to walk slowly. “The only reason I made it to the top of that bloody mountain was because of that guide,” Simon says, from his home in rural Norfolk, England. Simon recounts how, as they climbed Kilamanjaro, the guide would jab him in the back with a stick if he started to walk too quickly. “I can see that you can’t breathe as well as everyone else,” the guide told him. “You’re only going to make it if you walk slowly.”
Now, three years after his diagnosis of Pompe disease, walking slowly and steadily is an art Simon has learned how to do well. “[For people with this disease] the lazy man is your friend,” he says.
Growing up, Simon always knew that something wasn’t quite right with his body. He had good strength, but no stamina. “Cross country I was absolute rubbish at. Crap at swimming.” Throughout his adulthood his back was always hurting, and one chiropractor told him he wasn’t breathing right. “He’d picked up that my diaphragm wasn’t working well.” At night, Simon’s oxygen levels were dropping to 55 % and he was waking up with terrible headaches. He couldn’t drive more than four or five miles without falling asleep at the wheel.
“When you’re going downhill so rapidly, particularly with a wife and children the fear is inexplicable,” he says. “Because you just don’t know where you’re gonna end up. Little things prey on your mind. At one point I wondered who was going to croak first, me or my old dog.”
One day, Simon was out on a dinghy with his children and the boat capsized. He was plunged into the water and instantly unable to breathe. Luckily, help was close by. “This strapping boy picked me like a drowned rat and put me on the safety boat,” he says. This moment was a big warning for Simon, and through his own steady persistence, soon after that he was able to get a diagnosis. Life for Simon improved after his diagnosis of Pompe. With more access to information about his condition, he was able to work proactively with his healthcare provider to better manage his symptoms and slow some of the degenerative effects of the disease.
“I’ve now outlived the dog, so that is good,” Simon says with a smile. Simon’s wife, Deborah, and their three children are very supportive of Simon and the changes required in his life to cope with Pompe. “[The children] understand. They have moments where they really resent it. But they completely understand. I’m much more aware of other people’s disability now, and the children are as well.” Of his wife, Simon says, “She is remarkably intelligent and happens to love me very much, which is helpful. She’s exceptionally tolerant of everything.”
Deborah has not had an easy time with her health either; she has been battling re-occuring breast cancer, and undergone grueling chemotherapy twice. “She manages to take it in stride more than humanly possible. I’m extremely grateful to her.”
Both Deborah and Simon refuse to let their physical challenges halt their steady pace forward with their lives. Apart from being attentive and strong parents for their children, they both pour most of their time into restoring their family estate. “Which is entirely a labor of love,” Simon laughs. “I’ve inherited a bankrupt estate, a falling down house, and a financial disaster. But when I look at the wall in the garden I can think ‘I built that,’ and when I look at the gutters and the windows, I know I put it back together. What better motivation can you have than to rebuild something in one of the most beautiful places in the world?” Simon sits back and shakes his head. “Looking at your navel is not going to get you through this disease. Would I swap my place for anyone else’s? Not bloody likely. To be born...with all the suffering going on around me, Pompe is a really mild inconvenience.”
“I know I’m going downhill—nothing like how I was before my diagnosis, but I’m still going downhill. As I get weaker, I come up with strategies for how to get around it. But at my present state I’ve gotten to the point where I can’t cheat my way out of disability anymore.” Still, Simon finds ways to continue living an enchanted life. In addition to landscape restoration, he is an avid fly fisher and his favorite spot is a land preserve where he has been fishing at the same river bend since he was a child. “There are not many places like this left in Europe,” Simon says, rod in-hand. “The landscape hasn’t changed in over 400 years.”
More than a cure, Simon hopes for a treatment that can slow the disease progression down enough for his children to have an active father who will be able to accompany them into their adulthood. He hopes for a quicker diagnosis for others with Pompe, acknowledging that if he’d been able to receive diagnosis sooner, his whole life would be different. To anyone newly diagnosed he says, “Great. That’s 99% of the battle. At least now you know what’s bloody happening.”
Simon offers a window into his pragmatic, sensible mind with the advice he offers to others living with Pompe: “Raise your work surfaces six inches. Eye level ovens. Hang a piece of rope in the shower to keep steady on your feet. And learn how to keep moving, slowly.”