Signs & Symptoms

As a toddler I had regular contractures. I was clumsy and fell a lot. Growing up I could never do a handstand or sit up. In later life I developed scapular winging, a distinctive waddle, struggled with stairs and getting out of chairs, lost the ability to run, needed 4 pillows to sleep, had muscle twitches, gastrointestinal issues and lost mobility. If I overdid it, I got a hangover, with sickness & headaches and couldn’t get out of bed the following day.

Symptoms started at 3
Diagnosed at 47

About Julie

I’m from England, married with 2 sons. After having Jaundice aged 14 I had muscle and liver biopsies, but was told I was abnormal, discharged and told to get on with things.

I eventually got diagnosed at 47 after 33 years of misdiagnosis. I was told I was too thin, too fat, not trying hard enough, that it was my hormones or age. I was constantly told I looked healthy! I’ve always been active and went to the gym 3 times a week, but I still struggled and broke several bones.

I’ve lived and worked abroad in the USA, and travelled and partied with the best of them. I usually find a way to do something if I want to.

“I am not just Pompe, but it is as much a part of me as my blue eyes, big feet and dark sense of humour are. I’m in a happier place for getting my diagnosis and finding my tribe at last.”

Tagged: Awareness, portraits