Family Program

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The family program was broken up into workshops which allowed families to attend parts of the Scientific program that related to their particular disorder.

Report from the Mucolipidosis Workshop

The theme for this workshop was about how to manage the various symptoms of ML and although the topics were not new for families who have been around for a while they are very relevant as technologies improve and better ways are found to manage this complex condition.  This workshop was presented in an informal manner allowing families time to ask questions and personally speak to some of the professionals.

  • The Mucolipidosis workshop began with Dr Leroy from Belgium giving an overview of Mcuolipidosis. He talked at length about how ML II and ML III are the same disorder--------   We then heard from Dr Michael Kelly who talked about the spinal issues in ML.  One of his comments was that there is very little information in the literature and that it would be useful to get some of the surgeries and techniques used written up and published. This was a hugely important statement and now gives ISMRD a way forward in trying to get the clinical guidelines for ML written up and published.
  • Richard Morbey from New Zealand gave an interesting presentation on upper limb issues.
  • Dr Michael White from St. Louis gave a presentation on possible new treatments for Bone disease in Mucolipidosis and is keen to follow up on the work already done by Tim Cundy and David Sillence on the use of Pamidronate.
  • Nick Pietris gave a wonderful presentation on Cardiac issues in ML looking at what to look out for and how best to treat some of the symptoms.
  • There were presentations on Schooling issues and Obsessive Compulsive Disorder (OCD) this topic saw many parents get fully involved in this topic as many ML children display OCD in different ways and can be very challenging for parents.
  •  Andre Andrews, Sergio Cardenas, Zachie Hagget, Aoibhe o'connor  who all have ML II/III

Report from the Alpha Mannosidosis, Fucosidosis, Sialidosis, AGU workshop

  • The workshop on the morning of Day 2 of the conference included very informative and interesting talks on neurological symptoms of our diseases, a summary of knowledge of Fucosidosis, experiences with cell transplants, new developments in therapies, and discussion of education issues. A notable theme in the discussions was the advances not only in understanding and managing many symptoms of the diseases, but also the great momentum that is occurring in development of therapies. There are many different therapeutic options being explored, with many of them now in or very close to clinical trial phase. The workshop was run with a nice intimate feel to it, enabling families to ask questions and talk to the presenters in a nice and relaxed atmosphere, away from the more formal setting of the main scientific presentations. This added to the good feelings derived from the positive discussions about emerging therapies, which was a major theme of the whole conference too.

Tyler Haunault, Dr d'Azzo,  Amanda Gurtner (Tyler and Amanda have Sialidosis)