21st September 2011
Patient focus at the TREAT-NMD International Conference, Geneva

The experience of patients and families with neuromuscular diseases forms a core part of the programme of the TREAT-NMD Conference in Geneva.

Patient Forum

The opening session will be a patient forum faciliated by Pat Furlong (PPMD), where a panel comprised of patients and their families will discuss a range of issues including:

  • participation in/access to clinical trials
  • the level of care they receive
  • independence and access to services
  • access to potentially expensive treatments
  • the transition from walking to the loss of ambulation
  • their hopes for the future

The model of the forum is adapted from the US program "Project DOCC" - Delivery of Chronic Care - which uses the experience of family caregivers and adult patients to enhance health care practice.

Session 7: Life Quality vs Quality of Life

Chaired by Pauline McCormack (Newcastle University) and Thomas Sejersen (Karolinska Institute), this will begin with a Q&A session, and include three keynote presentations:

  • Tom Shakespeare (World Health Organisation) on the social aspects of quality of life with disability
  • Gail Geller on perceptions and interpretations of "hope" in families living with Duchenne muscular dystrophy
  • Pat Moeschen on living with muscular dystrophy

The full conference programme is available to download. Remember to register now to guarantee your place.

41st EAMDA Conference & TREAT-NMD training course report
back to top    

41st EAMDA Annual General Meeting and TREAT-NMD training course: "Best practice implementation in the management of patients with NMDs"

From the 8th -11th September in Prague, the Czech Republic Association of Muscular Dystrophy hosted the 41st Annual General Meeting of the EAMDA and, in conjunction with it, a TREAT-NMD Training Course on “Best practice implementation in the management of patients with NMDs”.

The one-day course was organised by the ENMC in cooperation with Thomas Sejersen (Karolinska University, Stockholm) and Stanislav Vohanka (Neurology Department, Brno University). It was attended by 23 neurologists mainly from the Czech Republic.

During the morning session, it focused on the TREAT-NMD activities to disseminate the most updated concepts on standards of care, particularly in the paediatric population affected by Duchenne muscular dystrophy and SMA. Other lectures targeted the management of respiratory issues and prevention of cardiological problems. Attention was also given to the physiopathological mechanisms of dysphagia and how to counteract malnutrition.

The afternoon session addressed how to follow up muscle function in the paediatric population, both from the rehabilitation perspective of maintaining or regaining function and wellness in children’s daily lives and from the medical point of view of employing suitable outcome measures in clinical trials or of monitoring children during routine hospital visits. The discussion highlighted areas where major gaps are evident in respiratory care (which in some places still lacks necessary equipment and trained personnel), prevention of cardiological dysfunction and implementation of good clinical practice in rehabilitation and use of proper orthopedic devices.

The course was also a good opportunity to talk about the CARE-NMD initiative. The Czech Republic is a partner in the project and Petr Vondracek, the Czech coordinator, illustrated the activities being implemented in the country.
Proceedings of the course were distributed to all participants, together with the standard of care guidelines for DMD and SMA (available Czech) and other information on TREAT-NMD. A questionnaire to evaluate this training course and to gain further insight into current training needs was distributed to participants with 78% returned. In general, the topics addressed by the course were considered of high relevance and the presentations were much appreciated. Interest in further training was reported by the attendees, almost all indicating the following aspects as major areas of interest:

  • diagnosis and analysis for muscle biopsies;
  • neuromuscular and pharmacological management;
  • information about and involvement in clinical trials.

The course encouraged a multidisciplinary approach and served to increase collaboration between specialists, such as pulmonologists, cardiologists and rehabilitators, with the aim of improving the care provided to NMD patients. Many specialists indicated that the information gained will contribute towards changing their practice. Moreover, personally attending the course provided the opportunity to discuss their activities and promote further interaction as well as strengthening international collaborations.

Organizing a one-day TREAT-NMD course in conjunction with the EAMDA annual conference has become a tradition in the last few years, and several speakers attending the course were invited, as ever, to discuss their current views on the standards of care and prevention of disease complications with the neuromuscular community.

The medical part of the EAMDA conference was devoted to new approaches and research results at the European level. The lectures showed how care of people with neuromuscular diseases is managed in other countries and underlined the importance of multidisciplinary care in this field. The necessity and the role of specialized neuromuscular centers where people with disabilities can receive adequate care were also emphasized. Local doctors have come to the conclusion they need to review some of their existing practices and approaches.

The second part of the conference was dedicated to social aspects presented by various neuromuscular patient associations from different countries. From the proposed topics, the following  presentations were selected:

  • Home sweet home: an associative experience of independent living;
  • Social aspects of disability;
  • Living with Muscular Dystrophy;
  • PC voice control;
  • Legal framework for status of persons with neuromuscular disorders in Serbia;
  • Restorative rehabilitation of people with NMD in Izola, Slovenia.

The need for cooperation among countries and the exchange and dissemination of their experiences was highlighted in both events. The training course and the professional part of the EAMDA conference were organized with major assistance and support of TREAT-NMD and the ENMC. The role of the EAMDA must also be underlined, which helps individual countries to organize this event each year, thus supporting the promotion of discussion on neuromuscular disease issues.

More details on the conference will soon be published on the EAMDA website.

"Both events were of a very high professional level and helped to promote the issues of people with neuromuscular diseases in the Czech Republic and beyond. The repercussions of the conference locally are very good. The training course was very useful. But we can’t rest even now. Still a lot of work to do!" Dona Jandová Zalmanová

We would like to express our gratitude to Glaxo Smith Kline which generously contributed by sponsorship of the training course and also the participation of some of the speakers in the EAMDA conference.

General considerations on training and dissemination activities in the CEE countries

These training activities coordinated by the ENMC contribute to building up relationships with the NMD community in a large part of Europe (and neighbouring extra-European countries) that still struggles to guarantee NMD patients and their families information on their condition and high standards of care.

A lot of information has been collected that contributes to the building up of a picture of the training needs and interests in the CEE. In particular:

  • Input has been gathered from participants in order to better tailor the training on offer;
  • Topics of interest for future training courses have been collected;
  • Countries and specialists interested in co-organising training courses have been identified;
  • The TREAT-NMD network has been expanded and its outcomes disseminated;
  • Increased insight was gained into the existence of registries and the availability and state of implementation of standards of care in different countries;
  • New collaborators will be identified and directed towards the partner responsible for a specific activity (i.e. for registries, standard of care, clinical sites).

The organisation of local training in the last few years has been a collaborative project developed with a network of specialists that made their expertise available to their colleagues in the CEE countries and a network of Patients Organisations that identified the topics of major interest and directly collaborated in the organisation of the events. We would like to express our special thanks to all of them and to Katelijne Senden and Maryze Schoneveld van der Linde, the TREAT-NMD fellows for the ENMC who contributed to this project with professionality and dedication.

Harmonisation and strengthening of interactions between patient associations and clinical academic centres and specialists is a continuous process that should be further fostered both at the national and international levels in the future.

Anna Ambrosini - Fondazione Telethon, Italy and ENMC Chair of the Executive Committee
Dona Jandová Zalmanová - Association of Muscular Dystrophy in the Czech Republic

Czech conference on multidisciplinary care for SMA and other NMDs
back to top    

On 16th-18th September, the Faculty of Health and Social Studies in České Budějovice, Czech Republic, hosted a conference dedicated to the multidisciplinary approach to caring for children with neuromuscular diseases and in particular spinal muscular atrophy. The aim of the conference was to present the latest research findings and new approaches to multidisciplinary care.

The conference was organised by the Kolping Family Smečno, a civic association and member of TREAT-NMD that provides social services and support to families of children with SMA. Additional expert input was provided by the Faculty of Health and Social Studies in České Budějovice and the Paediatric Neurology Department of the 2nd Medical Faculty of Motol University Hospital in Prague. Dr Miluše Havlová was responsible for expert supervision of the conference, which also received sponsorship from the Sirius Foundation.

190 experts attended from various fields involved in the care for patients with neuromuscular diseases, including medical specialists, nurses, physiotherapists, ergotherapists, speech therapists, specialist learning support workers, and social workers.

Twenty-five families with children suffering from neuromuscular disease also attended the conference, enabling the parents to discuss their experiences and views of complex care.

A special guest at the conference was  Prof. Dr. Louise Simard  of Manitoba University in Canada, who pointed out the importance of screening for neuromuscular disease in newborns.

The accompanying programme included a social evening in the Arpida children’s  centre, a fund-raising performance of Pinocchio, and a photographic exhibition. Direct care for children with neuromuscular diseases was provided for the duration of the presentations by assistants, and the children were treated to a psycho-relaxing and therapeutic programme (Health Clown, PC niche, music therapy, logotherapy, canistherapy, creative workshops, etc.).

The conference programme as well as further information about projects supporting children with spinal muscular atrophy can be found at http://www.dumrodin.cz.

Young scientists encouraged to attend 8th International Myotonic Dystrophy Consortium meeting
back to top    

The 8th international Myotonic Dystrophy Consortium Meeting (IDMC-8) will take place in Clearwater Beach, Florida, between 30th November and 3rd December.

Graduate students, postdoctoral fellows and medical fellows (classified on the IDMC-8 website as Young Scientists) are particularly encouraged to attend: based on current fundraising efforts, the organising committee hope to reimburse a significant proportion of travel and accommodation costs for Young Scientists, and multiple prizes will also be awarded for best oral and poster presentations.

The IDMC is an informal group of clinicians and research scientists with a common interest in understanding the molecular basis of myotonic dystrophy (DM), and generating effective treatment strategies. The IDMC-8 meeting provides a forum for scientific presentations and discussions, as well as promoting interaction between clinicians, scientists, patients and their families.

Upcoming meetings
Past newsletters
TREAT-NMD conference 2011
21st September 2011
TREAT-NMD newsletter - 21st September 2011