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I wanted to thank all of you who did all of this colossal wonderful work and all the efforts you are putting in for our cause. I think you are really amazing – all of you – who are working so hard to give us hope.”
(Feedback from one of our affected family members attending the 2018 Conference).
The Conference, chaired by Professor Francesco Muntoni, was presented in both German and English. Scientific presentations included:
“Overview of progress made, and lessons learnt in experimental therapies for other neuromuscular diseases”
“Genes, and the genetic background of centronuclear myopathy”
“An update on the ASPIRO gene therapy programme for x-linked myotubular myopathy”
Dr Suyash Prasad provided an overview of progress made in gene therapy development for myotubular myopathy, together with some frequently asked questions. Click here to see Audentes Therapeutics’ presentation (PDF).
Important: This presentation was made on 14th July 2018. See Audentes website for the most recent data releases
“RYR1 and TTN – the challenge of giant genes implicated in centronuclear myopathy”
“Cross therapy approaches for myotubular and centronuclear myopathies”
“Drug Repurposing for myotubular myopathy”
“Study design and burden on families in clinical trials for ultra rare diseases”
The workshops covered genetics and respiratory care, with many family questions being covered in these helpful presentations.
“Fundraising – a brainstorm”
This session was an open forum for ideas, suggestions and recommendations for fundraising.
Presentations from ZNM Zusammen Stark! and Myotubular Trust
“Inheritance patterns, recurrence risks and reproductive choices in centronuclear myopathies”
“Update on respiratory care: what’s new and what works”
“Respiratory management – your questions answered”
“Tracheostomies – dispelling the myths: putting the person first”
“Support in times of bereavement”
A group support session was available for our families who had sadly lost a child or relative. Carolyn Turner was able to signpost families to other services, and families were able to share experiences.
“An update on the pre-clinical work on Dynamin 2 downregulation for myotubular and centronuclear myopathies”
Dr Chris Freitag spoke about obtaining the broadest label possible for X Linked CNM patients and Autosomal Dominant CNM patients in the shortest time, while simultaneously minimising safety risk to patients. Click here to see the presentation (PDF).
“Supporting parents and carers with the needs and experiences of sibling children”
Carolyn Turner provided our families with helpful, practical advise and support tailored to their questions on a one-to-one basis.
“Independent living and holiday advice”
Shaun and Zak shared their personal inspirational and helpful insights into living independently as adults – from exercise to arranging their care. Lots of laughter and joy was in the room. They were kindly joined by Sean, another adult, who also provided his experiences of going to university to study. The Cariazo family also kindly provided some tips around holidaying here (PDF).
“Blended food – supporting parents and patients who choose a blended diet for gastrostomy tube feeding”
Suzanne Brown’s presentation was based on supporting parents and individuals who choose a blended diet for gastrostomy tube feeding – carefully covering the research, benefits, challenges and risks. Click here to see the presentation (PDF).
“Independent / Impartial Wheelchair & Special Seating Assessment and Advice”
Colin Plumb provided a rough guide to wheelchair services in the NHS together with some important information on postural management over a 24 hour period. Click here to see the presentation (PDF).
“Goals beyond grass – an introduction to power chair football”
Brian Dix talked about his role as CEO of a European Powerchair Football organisation, and a demonstration with the children at the conference which was enjoyed by all. Click here to download more information (PDF).
Plenty of activities were available to our VIP younger delegates to include toys, fun and games, face painting, balloons and magic, wildlife and animal encounter, cooking, arts and crafts, wheelchair football, karaoke and open mic, music, books, film, games, Playstation, African drumming and more!
The Children’s Workshop was managed by Alison Dyke, an experienced and qualified Nursery Owner and Manager, who is also RGA Nurse trained. Alison was accompanied by a great team of experienced carers including Rhianon, Sue, Sophie, Annie, Sam and Amanda.
Thank you to all those sponsors, grant making Trusts and Foundations, and equipment manufacturers who have helped finance this conference.
Breas provide innovative solutions that enable people with chronic respiratory conditions to live life to the fullest.
Our thanks also to Cynthia Dickinson Charitable Trust and IGY Foundation