The MPS Society are holding an expert meeting for professionals only that focuses on the ‘rare of the rare’ conditions that we support. These are LAL D, MLD, AGU, Fucosidosis, ML I, ML II, GM I, MSD, Winchester, MPS VII, MPS XI and Geleo Physic Dysplasia. The aim is to bring experts together to discuss the area of ultra-rare diseases, consolidate the data and information available into a paper and to develop knowledge and understanding which we hope will go some way to improve the support available to these patients. This is a scoping meeting for the next steps for future work in this field.

Morning Session (Chair Tom Kenny)

9.00–9.15am  Registration

9.15–9.30am  Introductions (Tom Kenny)

9.30–10.00am  Patient/family perspective; the journey through a ‘rare of the rare’ disease (Tailor family)

10.00–10.30am  Overview of literature & Care and support questionnaire results (Eva Raebel, RDRP)

10.30–10.45am  Break

10.45–11.15am  Delivering the diagnosis (Alison Wilson)

11.15–11.45pm  Genetics: unexpected cases through multi panel tests and whole exome/genome sequencing (Fiona Stewart)

11.45–12.15pm  The changing approach in the lab; the post-genomic era (Simon Heales)

12.15–1.00pm  Lunch

Afternoon Session

1.00pm–3.00pm  Break-out discussions

For the afternoon session we have four break-out discussions, with the intention to map out the next steps in improving/developing services.

• Delivering diagnosis: Exploring what is important in delivering diagnosis, challenges and best practice (Fiona Stewart with Alison Wilson)
• Best practice protocols: Exploring how to facilitate access to the best possible clinical care and research (Uma Ramaswami)
• Clinical guidelines: Exploring the outcomes from the patient questionnaire and the next steps toward clinical guidelines (James Davison)
• Natural history: A discussion to consolidate existing knowledge and data. How to capture and validate new information through patient reported outcomes and new technologies (Tom Kenny)

3.00pm–3.15pm  Break

3.15pm–4.15pm  Group discussion

4.15pm  Close