Perspectives of The Pompe World

In team events, there’s always a time when you think, “thank goodness that person is on my team.” That’s how I feel about a lovely woman named Julie. Her story and attitude towards Pompe is very inspiring and her efforts to spread hope are truly making waves in the community. This is her story.

“I am 55 years old and live in Birmingham, England. I have late onset Pompe Disease and I set up the Facebook group, Hope Travels-Pompe Awareness, five years ago.

I am a fierce supporter of newborn screening as it took me a very long time to get here, and to be believed.

Getting my diagnosis and finding my tribe was priceless. Pompe is debilitating on your own, but is manageable with support, and the Pompe community is amazing. They are knowledgable, proactive and protective. 

Even though I have LOPD, I had problems as a baby and throughout my childhood. I was born severely jaundiced and my legs would go rigid and tremble sometimes, and my mom would blame herself as she had a very bad fall when heavily pregnant.

I was slower hitting my milestones, but I was a tough, happy baby and once I got going, I was hyperactive. I was a chatterbox and very active during the day but my legs would cramp badly at night, as my muscles were so tight my toe curled under and couldn’t be stretched back.

My parents saw doctors and each time were told that I looked healthy enough, so there was nothing wrong with me.

I was never over protected, but treated normally and allowed to be myself. At the same time I felt safe and believed. I grew up as a tomboy, always out on my bike, climbing trees, garages and walls, and playing football. I loved being out—I would be gone for hours.

When I got back, I’d suffer for doing too much some days. My legs would twitch, cramp, and really hurt, especially during growth spurts. My parents would do me a hot bath and made me a nest out of pillows and cushions at bedtime so my legs were supported and I felt safe—they always believed me. That really helped.

I was 8 or so when I first realised I was different after I’d cycled a few miles with my mates and rested, and I said, “Don’t you hate how your legs burn for the first few minutes?” All my friends were surprised and said they had no burning and no pain, so I knew something was wrong.

When I was nearly 14 I went through puberty, had a growth spurt and had severe jaundice again and had terrible thigh pains, and so I was referred to a hospital at last. I was admitted for 2 weeks and had liver and thigh biopsies done. 

We were told that my liver was ok, but I was abnormal. There was definitely something wrong with me but they couldn’t identify it so best just to get on with things, and they discharged me. This was in 1982 so well before DNA testing.

I hid everything from all my friends and when my mom got cancer a few years afterwards, I’d tell her I was fine and had no pain. She always blamed herself for my issues and she felt guilty even though it was never her fault.

After she died, I wanted to travel as I always felt I had an unknown expiration date, so I went to work as an au pair in New York and whilst there, we drove coast to coast. I also went to Disney twice and then to the Philippines, which I could never have afforded on my own. I love my American family so much, and I adored my time there.

I’ve also travelled all over Europe, sometimes on trains, and on my own. I loved adventure.

I had great friends in the US and we partied hard at weekends, out all night dancing in Webster Hall and in the Village and then walking miles up and down the city during the day. We got lots of exercise so that helped keep me moving.

I often hurt but always hid it. I was known for being clumsy and so it wasn’t an issue. It was then I found I couldn’t run anymore. If I tried, I’d fall, the mechanics were all wrong and I felt like I had concrete legs.

After a few years I returned home and looked after myself, I lived a very healthy lifestyle. I’ve tried everything over the years,  but my usual routine was to go to the gym 3 times in the week and I’d swim at weekends and I walked wherever I could, and I’d do this around work too. Still, I struggled with stairs though.

I have had other medical conditions that didn’t mix well with my undiagnosed Pompe, that have made me very ill and progressed my Pompe, otherwise I feel I’d still be walking and able to do more. 

I’ve had two non Pompe emergency situations aged 29 and 40 when I’ve had a large ovarian tumour, severe endometriosis in my bowel, pelvis, and on my appendix which was rotten, and blockages,  also 3 bowel resectionings due to adhesions and endometrial tissue.

These lay ups of several months impacted my walking, but I was blessed to still be here. When I was 40, I had to have daily physio in hospital to walk again as I had severe muscle wastage and was 7 stone. It took me ages to even stand, and I had the waddling Pompe gait after this. I did walk again for a few years but plateaued and declined right up to my diagnosis.

I am mentioning this only because newly diagnosed people always ask our ages and what ages we needed a wheelchair or Bipap, when we have all have different mutations, enzyme levels, and life experiences etc. Comparison is the thief of joy. Everyone is different and Pompe is a spectrum of symptoms.

I was eventually diagnosed after another 3 years of being passed around hospitals as a curiosity,  having tests, and being told I looked OK.

I was misdiagnosed with McCardles disease for 6 months but I knew I didn’t fit those symptoms. So I pushed on.

It took a full 6 months for my Pompe blood test to come back and I was told by post, one sentence, “We think you have Pompe” and my appointment was a month later. Of course I googled it and regretted it immediately as it was old information, pre treatment days for IOPD.

At my appointment it was reconfirmed as positive for Pompe, and I was so happy that what I had, had a name and wasn’t in my head or caused by me,  I cried. 

My doctor thought I was sad but I felt happy and validated at last! He said there was treatment and a new drugs trial about to start so I volunteered for that, but told him I was struggling to walk, he said it would be soon.

After 9 months of waiting, I was declining fast and had hired a manual wheelchair to use as I was getting stranded with my legs giving way, so I asked to go straight on Myozyme.

I had pushed for breathing tests too after I told Allyson Lock I had regular bad morning headaches, and those found my supine breathing was low at 41% and I had high C02, so I started a Bipap at the same time.

It was like coming out of a fog! It took a few weeks to build up my time on the Bipap but I felt amazing. I now love my Bipap.

A year ago I switched my ERT to Pombiliti from Amicus, with the Opfolda chaperone. I feel I am still holding my own, but still have ups and downs. Pompe isn’t linear, it’s a dynamic disability, so what you can and can’t do varies from day to day. 

I started Hope Travels as a way to have fun and connect people and spread awareness. We started with visits at first, but now I can send furry sloth friends out to children to keep. It brings me great joy and I’ve got to know some fantastic people, who keep in touch.

I have a dark sense of humour and I always coped well on my own, but now I’ve found others like me, that get me, I don’t have to. I have great family and friends but no one else gets it, like someone that’s got it. I like seeing different perspectives too, as I wish my mother could have known none of this was her fault and that she had other parents to reassure her. If I’d had newborn screening, our lives would have been a lot easier, but I’m still grateful for what I can do.”

Hope Travels-Pompe Awareness sends stuffed sloths via package to people all over the world with Pompe and shares helpful information to spread awareness and important updates. We are truly grateful to have Julie as a part of our community. You can visit Hope Travels by the following link:

https://www.facebook.com/share/2DNeC448S5LFqaGf/?mibextid=K35XfP