Pompe Disease

Getting diagnosed with pompe is often a long process, many with Pompe wait over 7 years to get a correct diagnosis and some have had a wrong diagnosis for over 30 years.

Being diagnosed should be easy, and it is, once the consultant decides to test for Pompe.

There are two tests:

The first is a free test offered by Sanoffi Genzyme and this looks for Pompe markers in the blood. It takes a few minutes and is a simple blood spot test. It can be taken at the doctors surgery by either the doctor or a nurse. The card is sent off and to a London hospital and the result is sent back to the doctor. This test isn’t 100% accurate but usually gives a good indicator as to whether Pompe should be tested for via the genetic testing route.

The second is a genetic test. This is the definitive test and once taken will give a clear answer as to whether the person has Pompe or one of the other glycogen storage diseases.This is a blood test that is taken at the hospital at the consultants request. Due to the cost of genetic testing it is expensive and not generally done unless they have a good reason to believe that the person has Pompe. Anyone having this test will also be offered genetic counselling and then have to decide whether, if positive, other family members should be informed and offered the genetic test.