World Rare Disease Day 2016: A community for progress

World Rare Disease Day 2016: A community for progress

HCU Network Australia was proud to jointly convene the international patient and expert meeting for homocystinuria and methylation defects in Prague on World Rare Disease Day 2016.

The meeting was the first international event for individuals with these disorders. The meeting was opened by Professor Henk Blom (Freiburg, Germany), Professor Viktor Kozich (Prague, Czech Republic), Tara Morrison (Director, HCU Network Australia) and Marike Groenendijk (EHOD, project manager).

The meeting aimed to provide a platform for exchange of patient experiences and needs and for the provision of specialised information. There were 45 attendees including patients and their representatives, caregivers, clinicians, dieticians and researchers from 15 countries. As an inaugural event, the meeting exceeded expectations and the feedback from attendees reflected the high quality of invited speakers.

The achievements of the meeting included not only benefits for the families and individuals with these disorders but also the health professionals that attended.

The programme, covered an overview of the disorders, the EHOD consortium, CBS clinical guidelines, newborn screening, research understanding, unmet patient needs, a Q & A and novel patient organisation development. One attendee from the UK also shared her experience of her sons delayed diagnosis in a moving speech during the panel discussion.

Aside from the knowledge gained by those in attendance, the meeting provided the opportunity to meet others affected by the same diagnosis. For many families, this was their first time meeting another family affected by the same disorder. This benefit was echoed by many attendees and responses about what attendees most enjoyed included:

“meeting other families and being part of a group”
and
“meeting others from all over the world in the same boat as us”

A secondary goal of the event was to establish novel patient groups in countries where non exist and in turn the development of a global association of these organisations. We look forward to working with key persons internationally to see this goal come to fruition.

Attendees also had the opportunity to enjoy dinner on the evening of World Rare Disease day with other attendees from both the meeting and the Recordati Rare Disease Foundation professional training course for homocystinuria and methylation defects.

In order to increase the impact of the meeting we look forward to releasing patient testimonials, a clinician Q & A on unmeet needs and a highlights video in due course.

Warmest thanks go to our sponsor, the Recordati Rare Disease Foundation, who made the event possible and to our event partner EHOD. Special thanks also go to Nutricia for providing some low protein food samples for attendees to take home.

Finally, we are exceptionally grateful to all the attendees, most of whom travelled internationally and gave their personal time to participate in the sessions. It was encouraging to see the dedication and commitment of health professionals to improve the quality of life for individuals affected by homocystinuria. As a patient community, we are certainly better for it.

Tara Morrison, Director & Chair, HCU Network Australia

Prague 290216 2