In late-onset Pompe disease, unlike the infantile-onset form, there is a low level of GAA enzyme. It can be diagnosed from age one but is also known to present much later in life.
A highly specialised team for a rare condition
It is likely that individuals will be referred to a specialist Neurologist or Metabolic Consultant for further tests.
As understanding of this complex condition has grown, so have medical services. In the UK we are lucky to have specialists gathered together in teams. This means they are able to work together and share knowledge of rare conditions. For some people this means they will have to travel quite a distance in order to see their team.
The teams cover either all the Lysosomal Storage diseases or they cover a range of rare metabolic diseases. Late-onset Pompe disease falls in to more than one category, so there is overlap. This can sometimes be confusing for patients.
There are five such highly specialist medical treatment centres in the UK so you might wish to consider which suits your needs best and ask to be referred there.
A range of tests
Blood tests are often done to check levels of Creatine Kinase (CK) and these may be raised in people with late-onset Pompe disease. Raised Alanine Transaminase (ALT) levels might also be found and with the range of symptoms already described could indicate that a test for late-onset Pompe disease is worth doing.
A simple and free Dry Blood Spot test is done to check for late-onset Pompe disease. This test kit is easily available to order for all GP surgeries.
If a blood test gives a positive result, then a full set of genetic tests will be completed. Genetic screening results can take many months.
During this period of waiting it is important to continue to seek help to alleviate painful symptoms.
If you have suspected Pompe disease as well as breathing difficulties or weakened diaphragm, then speak to your medical team about carrying a temporary medical alert card because if you have a fall or accident and are taken to hospital the emergency medical staff should know you might have Pompe disease.
If you need to have surgery involving full anaesthetic then again, medical teams should be aware you are being tested for this condition.
Podcast on late-onset Pompe diagnosis story
Dr Paul McIntosh, Duke University.
This 24 minute podcast is an interview with Dr Paul McIntosh. He is a medical doctor who has late-onset Pompe disease. His symptoms started in college with back pain and led to a diagnosis of Pompe. Now he is at Duke University where he is both a patient and a researcher into this condition. Dr Macintosh presented at our 2019 Annual Conference.
Looking out for misdiagnosis
There are many examples of people being misdiagnosed, primarily with conditions including; Limb Girdle Muscular Dystrophy, Chronic Fatigue Syndrome and Myasthenia Gravis, amongst others.
Some of our members have told us that they were labelled as malingering through the many years they were seeking a diagnosis.
Many people, after diagnosis, report that they had always known something was wrong because they could not run, walk easily, take part in sports and felt ‘different’.
If you are currently in this position and are seeking advice on how to proceed toward getting tested, please contact us.