International Pompe Association

Ms. M. Schoneveld van der Linde
Dutch Association Neuromuscular Diseases
The Netherlands

Initiative

Action, co-operation, empowerment and initiative are keywords in this paper. In the second half of the eighties, a group of people within the VSN concerned with Pompe’s disease, wondered about the state of the art in scientific research. One of them discussed with staff members of the VSN about the importance of scientific research. After these discussions, meetings were held with scientists. These resulted in a good co-operation between scientists and the VSN.

Co-operation

Research continued during the years and in 1993 Dr. Reuser and Dr. van der Ploeg needed the help of the biopharmaceutical industry to produce alpha-glucosidase in large quantities. In 1996, Pharming made public their production in the milk of genetically modified rabbits. From this moment onward the VSN became actively involved as well. A co-operation between scientists, industry and patient organisations had begun. Also patient organisations world-wide started to collaborate intensively. Their goal was to supply information to as many patients as possible and to let patients be reached easily as soon as the medicine would work. Time is an important factor in a progressive disease.

Society plays a role in the process too. Animal welfare organisations, public opinion, media and politics are constantly present. For us it is important to know how to deal with their presence and therefore we need good communication between all parties involved.

Uncertainty

In the meantime, patients have to face uncertainty towards their future. What will happen if the medicine works? What will happen if the medicine only stops the deterioration process?

What willhappen if the medicine does not work? All these different perspectives make the period of clinical trials a very uncertain one. Patients and their families are waiting for news and that is not always easy, because the time that is needed to do the research is also the time that our bodies are deteriorating.

Empowerment

During this waiting period however we have to think ahead and discuss what will happen when the trials have finalised. Every result of the clinical trials will have great impact on everyone involved. With a positive result one must adjust to a physically more capable body. But is everyone able to do this? Life will become so different with a more capable body than the life one was used to. A negative outcome of the trials will mean that we have to face the deterioration process again.

We must be prepared for new developments in the future. Therefore several things need to be done, like: informing Pompe patients, trying to make the medicine affordable for all patients, trying to inform the public about the advantages of biotechnology and showing other patients that it is possible to start or accelerate the process of finding treatment. Let’s empower ourselves to reach the goals we have to fulfil.

Future implications

  • Informing Pompe patients about the developments. 
  • Showing other patients the possibility to start or to accelerate the process of finding treatment. 
  • Informing the public about the advantages of biotechnology. 
  • Striving for affordability of the medicine. 
  • Staying alert towards developments in society.