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Jenny Noble was supported by LDNZ to attend this special scientific workshop set up with the help of the US Office of Rare Disorders, and followed by a family conference of families affected by the nine Glycoprotein storage diseases. Here is her report:

Paul and I had the pleasure of attending the 1^st International Glycoprotein Conference in Washington hosted by ISMRD and The National Institute of Neurological Disorders and Strokes.

Late last year ML 2 and 3 were included in ISMRD’s group of disorders. After years of being an orphan disease that got little to no input at MPS conferences we saw this as an opportunity to increase the need for research for Mucolipidosis.

Families were also invited to attend the scientific conference being run over the 1-2 of April. It was very exciting hearing the Professionals actually talking about our group of disorders.

For ML we were hearing things that had never been discussed at any of the MPS conferences before , such as Gene Mutations. We always knew there were three types of ML mutations A,B,C but to actually hear researchers stating that they were doing some research in this area was truly amazing, as several months prior to this conference we had agreed to send blood and tissue cells to a researcher in Israel who is also working in on Gene Mutations in ML.

Part way through day one we started meeting ML families from America and Canada and our scientific conference for that day turned into an ML information and sharing time.

What struck Paul and I was how desperate these parents were for information about all aspects of Mucolipidosis. We found ourselves giving, of our 17 years of experience to these families, and Oh what a joy meeting all their children, whom I have to say all look alike.

The family conference was truly amazing the simplicity of the presentations was wonderful. We had never seen this done in any of the conferences we had been to before. We began to really understand what the error in the enzyme activity was for ML. Once we had this understanding It allowed us to consider just what else Pamidronate is really doing in our children. It gave us the confidence to approach researchers with our ideas.

I think the most outstanding aspect of this conference was finally getting Prof. Hopwood to agree to grow Fibroblast tissue from Hayden in Pamidronate to see if Pamidronate is acting as a Pathway to the Lysosome. We considered this to be a huge break through for ML families around the world.

I would like to thank LDNZ for their financial support in getting us to Washington. We have been able to strengthen our International contacts with researchers and Drs. We have broken the isolation of living with ML ,lasting friendships have been made with the ML parents we met while in Washington. My contact list of ML families has now grown to 38 contacts with knowledge of many more families in remote places in the world.

Through my work for LDNZ I have joined John as a Board member for ISMRD and will continue to build our networks and contacts on an International basis. I truly believe that through ISMRD we will start to see some real research on these super orphan diseases.

Once again our heartfelt thanks to LDNZ for the support it has been able to provide in the cost of travelling to this very special conference.

Jenny Noble
Trustee/Secretary
Lysosomal Diseases New Zealand