Dr. K. O’Donnell
Assocation for Glycogen Storage Disease,
The diagnosis of a rare disease, especially one like infantile Pompe’s, is a difficult time not only for the family but also for the doctors concerned. To be told that your child has a rare and incurable condition and will certainly die within a short time is a devastating and isolating experience for any parent. And, of course, people become doctors to help others, not to deliver such news. And in the case of something like Pompe’s disease, the doctor may not have the information necessary to answer the family’s questions. In such a situation no one is empowered to do anything.
When our son Calum was diagnosed, the doctors weren’t able to tell us very much about Pompe’s disease but they were able to do one important thing. They had, in their files, a leaflet for an organisation called the Association for Glycogen Storage Disease UK (AGSD). That small single act made an incredible difference to us, since it allowed us to make contact with other parents who had been through the same experience. It is difficult to put into words the difference that this made. It did not change the course of the disease but it made the situation easier to bear; it was empowering.
Provision of information
If contacting other families was the only advantage of patient groups then that would, in my view, be enough to justify their details being kept and passed to families by medical professionals. However patient groups have another important role to play, in the provision of information.
An understanding of the disease is in itself empowering. Patient organisations can do this by providing information in a form that is understandable by the non-specialist. The AGSD produces ‘Pompe’s disease - a guide for families’ which attempts to do this. As well as explaining the background behind the disease it also describes some of the research into treatments for Pompe’s disease. Indeed, one of the main motivations in producing this pamphlet was to spread the word about the extraordinary work carried out at Erasmus University in Rotterdam by a team of researchers including Ans van der Ploeg and Arnold Reuser. This late 80s work on Enzyme Replacement Therapy was the first hope of a treatment for Pompe’s disease and just being aware that it was going on made a difference to many families, even though they had already lost a child.
The AGSD also produces a regular update of Pompe’s research and news world-wide, the ‘Pompe’s Bulletin’.
The Internet is an increasingly important aspect of the work of patient groups. For example, the ‘Pompe’s disease - a guide for families’ pamphlet mentioned above has had about 200 paper copies distributed over the last 5 years. Every month, around 900 copies are downloaded from the AGSD Pompe’s disease website (www.pompe.org.uk). The website is accessed not only by patients but also medical and scientific professionals and students. This is an example of how information can now be made easily available to anyone with Internet access.
Of course, it is essential that the information provided is of good quality. It is essential for patient groups to maintain good relations with medical and scientific professionals and to have an advisory board which checks such publications for inaccuracies, prior to distribution.
Another aspect of the Internet is that it allows for easier communication between people. GSDNet, an electronic mailing list, has around 260 members from over 20 different countries, all discussing various aspects of glycogen storage disease and supporting each other. (To join, send the message ‘subscribe gsdnet Your Name’ to the address firstname.lastname@example.org).
The Internet is therefore playing a key role in allowing patient organisations to empower patients and families by helping them to understand Pompe’s disease, informing them of advances and helping to find support.