Reflections on the 1st International Conference on Glycoprotein Storage Diseases

To Go or Not to Go..to Wait or to Do?
by Anne Grégoriadès
Beta-Mannosidosis Parent

For the first time, I thought to myself, we will talk about these diseases and only these diseases! In my mind, I felt really happy to be attending the 1st International Scientific Conference on Glycoproteinoses Diseases. As the mother of a boy, now 19 and diagnosed with Beta-Mannosidosis at 3 years old, I had hopes that this event would bring me new information about his disorder. If not that, at least I felt it could create something dynamic among the global scientific and medical community who would be represented there. I firmly believe that this is what happened! We, my son Paul and I, arrived in Washington from Paris (with a stop in New York) on the afternoon of Wednesday, March 20th, enthusiastic to revisit a country we had visited four years previously. This time, however, I came not as a tourist, but with a much more specific objective: to meet other families affected by these very, very rare diseases for which there is not yet any medical treatment.

It was comforting to know that I would be with others who felt isolated as I by the effects of a disease which, as with Beta-Mannosidosis in my country, is too rare to be of interest to most. Now we would have the opportunity to meet with the best scientific specialists about them and to feel, at last, that we do not have to be so alone with our fate.

Nevertheless, when I arrived in Washington I really did not know what would transpire. On the morning of Thursday April 1st, Paul and I arrived at the conference hotel in Rockville with my sister-in-law who lives in nearby Bethesda, Maryland. There we met Sandy Miller, who was fantastic with all the children in attendance: she was the one who managed the children program, and I want to send her a great "thank you" for her kindness and her competence! It must have been difficult to find suitable activities for such different children or young adults (different by age, country, languages, physical or mental capacities, evolution of the diseases, etc.), yet she found new, engaging activities for each day of the conference! I remember Paul's joy when he met Anselme, a caregiver whose origin is Cameroon and who spoke French with him on Friday. I understood that Sandy had asked him specially to come for Paul’s sake.

I also recall my excitement meeting Dr Margaret Jones, from the University of Michigan, and probably the foremost expert on Beta-Mannosidosis, on the 1st day . Dr. Jones told me how very long she had studied my son's disease, for which I have great admiration. When I returned to France, I analyzed her contributions more closely, by reading, asking, answering with French and American families or associations, and I understood how important her work was to the current understanding of the processes of this disease.

This conference allowed me, and I suppose others too, to get a wide and precise view of the Glycoprotein Diseases, because it focused only on these, and for the first time they were not "drowned" in discussions of more prevalent ones like MPS. Even if it was very hard for me and other “non-anglicists,” like Valentin Sovetchenkov from Latvia, to understand what was explained during the two days of the Scientific Workshop, I was helped greatly by the PowerPoint slides that enhanced each presentation. I should emphasize that, though not presented in my native tongue, I was able to learn much about biochemistry, research and medical strategies by "listening and listening, reading and reading!" It was like taking a "bain de langage" ("language bath") which forces you to learn in a way, then finally makes you understand.

Saturday was the day that families were presented the results of the Scientific Conference in a more understandable format. It began in the morning with a "lesson" on genetics and how the lysosome works, or does not work: this was wonderful because it was so didactic and so well presented! Dr. Kelley Moremen, who spoke about the mechanics of a Lysosomal Disease, presented the material with such attention, speaking slowly in order that everybody could understand, that so many of the specific words I heard during the two previous days now made sense for me! Nevertheless, I think that it surely was a CHALLENGE for the speakers assembled to teach genetics and biochemistry to us, most of whom had no medical education and some speaking a foreign language! Despite this, by the end of the day Saturday, even though the afternoon topics about therapeutic prospects were of particular interest to the families, I began to get really tired, a result of the time-lag between Europe and America and a head cold I had been fighting for two weeks…

On Sunday morning I arrived late to the meeting, whose subject was ISMRD: the organization, its orientation, goals, etc. The families gathered around the huge table were exchanging ideas about how to raise the funding needed to support medical research projects, such as Enzyme Replacement Therapy and Substrate Deprivation Therapy, that were highlighted by the conference. Many came up with suggestions and I proposed something similar to France's "Telethon," that supports fund-raising for a variety of causes.

Upon our return to France, I made contact with VML, Vaincre les Maladies Lysosomales, the French organization that advocates for all the French families with a lysosomal disease, and participated in the annual family meeting for the first time. There I met just one patient with Alpha-Mannosidosis; none of the others were affected by one of the Glycoproteinoses. I listened to the presentations and understood the critical importance of research on such diseases as Fabry, Hunter, Gaucher, Niemann-Pick, Hurler, Cystinosis, Pompe, and few others. Yet, once again, I felt that we were alone and that reinforced in me the feeling that it is very important that ISMRD be global in order to be strong. But also I want to say that each person, in their own country (or in a larger context, such as Europe), can have an impact by trying to ask their native organizations not to forget them!

At the end of the VML conference, we made an appointment for early July 2004 to meet with a clinical specialist in diseases of metabolism at a hospital in Lyon. I clearly understood the message that had been given to the families by the clinicians at the Rockville Conference: these diseases are progressive storage diseases and families should expect a worsening of the disease with age. One conclusion I have reached is certain: if WE do not do anything, nobody will do it instead of us!! So "merci" to Paul, Deborah and Taryn Murphy, Sandy Miller, and thank you to all the members of the Board of ISMRD who are doing just that! Thank you, also, to John Forman, who we met for the first time in Paris June 2002 and who, with his competence and his "fervor", made us understand the importance of such involvement on a worldwide level.

Paul Grégoriadès