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SUMMER 2024 InTouch | 25 When did you find out around the diagnosis and how did this process take place? I was diagnosed with Late Onset Pompe Disease (LOPD) in July of 2010. I was 45 years old at the time. The diagnosis came as a huge relief as I now knew what it was I was dealing with. I had been searching for an answer to my various symptoms for more than 20 years. Misdiagnoses such as asthma, irritable bowel syndrome, fibromyalgia, being accused of making things up… so many appointments with so many specialists. I had a muscle biopsy by a neurologist in 2002 which didn’t show anything. I then had Allyson Lock answers our Q & A on her journey with Pompe Disease and tells us why her diagnosis came as a huge relief! Focusing on what I can achieve and laid on my back (one of the absolute worst things you can do to a Pompe patient! But I didn’t know that’s what I had at that point). Next thing I remember was wind blowing into my face as they resuscitated me and put me on a breathing machine. The following week I was sent to Wellington hospital to be fitted with a BiPap machine. My life changed for the better. The headaches disappeared. The constant sleepiness, lethargy and foggy brain, major muscle twitches and nausea all cleared up. I had been slowly getting poisoned by CO2 building up in my system. Pompe patients are unable to blow off CO2, so it gets retained in our bodies. Interestingly, the neurologist said, “In hindsight, I should have known it was Pompe back in 2002”. Pretty big admission. How has the condition affected you in your everyday life and how have you overcome these challenges? This condition affects all aspects of my life. I used to enjoy horse riding, gardening, walking, cooking, baking and general messing about on our lifestyle block. I’m an outside person. Now I am unable to do most of those things. So, I’ve had to ensure that I have plenty of other things to do that I CAN achieve, and that I enjoy doing. My horse, Rain, is old and arthritic, Misdiagnoses such as asthma, irritable bowel syndrome, fibromyalgia, being accused of making things up… so many appointments with so many specialists. Above: Allyson with her two 2 youngest boys, Ben (left) and Josh. a follow up appointment with the same neurologist in 2004. He said, “I thought you had muscular dystrophy, but since you haven’t got any worse in the past 2 years you obviously don’t have that”. So, he sent me on my way, with no answers, as usual. We moved cities in 2006, and I was getting gradually worse, but I could still walk unaided and was able to do what I wanted to do. In March 2010 I attended the emergency room at the local hospital with severe stomach pain. I was given a sedative After that episode I was referred back to the neurologist who did my muscle biopsy and follow up appointment. He said to my doctor that he didn’t need to see me in person, but he suspected that I might have Pompe disease, given the breathing aspect. I did a dried blood spot test (the same as newborn babies have), which was sent to Australia, and came back with the suggestion I did have Pompe, and to do a confirmatory urine test. I did that and received my official diagnosis. Finally! YOUR CONDITION IN REVIEW