Hi my name is Nicola. I have 2 little boys with Pompe disease who were born in 2012 and 2014.
I noticed my youngest son wasn’t walking properly, he was 18 months old and would get up off the floor by walking his hands up his legs. He had a waddle when he walked and his spine was curved with his belly pushing forward. I knew this wasn’t right as I never saw this with my oldest son.
We went to see our paediatrician with our youngest son and they tested ck level and it was high it was 2000 and normal is 300. Doctors thought it may be Muscular Dystrophy but they were confused as MD ck levels are normally 20,000 and higher. After months of blood tests and uncertainty we ended up doing a muscle biopsy and it was conformed it was Pompe.
“To say we were devastated is an understatement”
You always want the best for your children, but at the same time we were relieved that there was treatment for Pompe This in our eyes meant there was hope.
Our oldest son had to then be tested and he tested positive. This was a real shock as he doesn’t have any symptoms.
As of mid 2017 both boys have been on ERT for a little over a year and I must say I’m extremely happy with the results. Our youngest is receiving hydrotherapy and physiotherapy once a week and is getting stronger every day. He still finds stairs challenging but he gives everything a go. He can run, jump and skip. Our oldest still has no symptoms.
“Both my husband and I are positive people”
Yes, we have our days when we think why?! Life can be very unfair sometimes but what keeps us going is the “happy” life we are giving our boys and the endless love we all have for each other. No one can ever take that away from us.
I try to not think too much about the future just live for now. Surrounding ourselves with supportive people has helped us, together we are strong.