Julie – Pompe disease, knowing is half the battle


My name is Julie. I live in Montreal and
I have Pompe disease. Symptoms of the disease started
when I was 50. The biggest one, the noticeable one that first hits you is
that you can’t walk up stairs. You think my that’s odd because you walked
up stairs for 50 years and then all of a sudden you’re not walking up stairs. And
then there’s the falling and down tripping on your own feet. All of those things are
just irritants and you don’t realize that you’re ill until they get worse. It
just progressively gets worse. You get to the point where you can’t get out of a
chair. You get to the point where you certainly can’t get up off the ground.
And then there’s using your arms. You can’t lift them over your head, you can’t
carry anything. Some people have trouble breathing.
Fatigue is huge. I think we’re all fatigued. The the effort of moving
just fatigues you. Early diagnosis is important because a young person who is
diagnosed with it and has treatment will have a much better quality of
life. The treatment will keep them
stable. Their muscles will not degenerate. They’ll be able to move, keep
their job, do things, even do sports. The confusion with the diagnosis is because
there are so many similar diseases; ALS, MS, Muscular Dystrophy. All of those
things look like Pompe. That there’s, you know, a different treatment so it’s
important to know which one it is. The test for Pompe is called DBS which
is a dried blood spot test. It’s very simple. It doesn’t hurt. You get the
results in about two weeks. Getting a definitive diagnosis was first of all a
surprise. It gave my family, and particularly my husband, a certain
feeling of peace of mind that they knew what was happening and they could
understand it. Well, I’m lucky to have a really good support system because my
husband, he’s now retired, and he’s here with me all day every day and does
everything literally. We both share cooking and all that stuff but he
carries everything. He does all the work around the housing, and I used to do
all that stuff too but now he does it. And my girls, my grown-up girls, when they come and visit they help out during Christmas. They do all the work.
There’s so much they do, I’m dependent on them all. Living with
Pompe is a challenge. There are lots of daily struggles but we have good support
system which I am so blessed to have. Your life becomes back to normal and you
keep going, it, it keeps you going

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