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I am a 41 year old male and was diagnosed in 1990 as having Acid Maltase Deficiency (also known as Pompe disease).

Pompe disease is caused by a complete or partial deficiency of the lysosomal enzyme, alpha-glucosidase. This enzyme is necessary to break down glycogen and to convert it into glucose. Without this enzyme, glycogen, a thick sticky substance, accumulates in the lysosomes (sacs within the muscle cells) and leads to severe muscle degradation. It predominately affects the heart, skeletal, and respiratory muscles of the patient. Pompe disease is one of a family of 49 rare genetic disorders known as Lysosomal Storage Diseases. It affects an estimated 5,000 to 10,000 people in the developed world.

At the end of October my wife and I ventured to Heidelberg, Germany for the second International Pompe Conference. The following is a brief report on the conference with a summary of some of the presentations.

The conference was a huge success. Listening and speaking to medical experts was amazing. I learnt so much in just a few days.

Meeting with other patients however, was as equally, if not more, amazing. One of my biggest apprehensions about going to the conference (apart from how the 20 odd hour flight was going to affect me) was to meet up with other sufferers.

Being only one of two people in New Zealand with Pompe Disease is a lonely prospect but meeting up with a room full of people at varying stages of the disease was quite a nerve racking concept. My fears were however totally unfounded. Yes, I did meet up with patients worse off than I am (a glimpse of the future?) but before long the disability was forgotten and friendships were formed. So much was learnt and e-mails are now flying around the world sharing thoughts, fears and general conversation about the different countries we all live in and the things we do.

The organisation of the conference was supreme. The venue – Heidelberg in Autumn was perhaps the most amazing place I have ever seen. It is a university city that is looked down upon by a huge castle situated at the edge of the Black Forest. The architecture is just unbelievable – like something out of Hans Christian Anderson’s fairytales. Many, many thanks to the IPA for their hard work, and to John and Lysosomal Diseases New Zealand for their support.

Laurie Hill

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