Pompe Disease

Is Pompe a rare condition or a condition that is rarely diagnosed? Look at the data below and make up your own mind.

Currently only 1 person in every 434,000 is diagnosed with Pompe. Does this make it rare or rarely diagnosed?

The experts have estimated the probability of a person as having Pompe of 1 person in 40,000 (1:40,000) has Pompe but this is not shown in diagnosis rates. This raises the question as to why so few people are diagnosed?

What does this mean in terms of real numbers of people in the UK?

There are only around 180 people diagnosed with Pompe in the UK. That is 1 in 333,333 (1:333,333)

If 1 in 40,000 is correct there are 1,672 people with Pompe in the UK.

This means that there are over 1,500 people living with this devastating condition and receiving the wrong treatment and care which could be making their condition worse or could be fatal.

This is where it gets interesting. In the US some states are currently testing every new born baby for Pompe alongside other conditions, they are using the heel prick test. The results have been very surprising. They are showing Pompe rates of 1 person in 9,000 (1:9,000) and 1 in 13,000 (1:13,000).

This means that if it follows the same in the UK, and there’s no reason not to believe it will, then the cases of Pompe are far greater than previously expected.

Using these rates there could be over 5,000 people with Pompe that are either undiagnosed or misdiagnosed and receiving the wrong treatment

Currently Pompe is rare as many medical professionals are unaware of the condition, its symptoms, treatments and the way it impacts on the whole body of the person with it.