Newsletter - Summer 2019
 
Newsletter - Summer 2019
 
 

Summer newsletter

In this final EURO-NMD newsletter before our traditional summer break we are delighted be able to send you a newsletter that has a very strong patient focus.

In this special newsletter you will find out about the Network's Patient Advisory Board, and their all-pervasive role throughout the Network. There are interviews with two of the board's members, an article on new-born screening and an update from their recent meeting in Paris.

We hope you find this newsletter engaging and informative and we would like to take this opportunity to thank everyone from the Patient Advisory Board who was involved in providing the content. 

 
 
 
 
 

Patient representation in the EURO-NMD network

Patient organizations play an active and integral role in the EURO-NMD European Reference Network. Their participation in the Network is two-fold:

a. Membership in the Patient Advisory Board

The Patient Advisory Board aims to ensure true and equitable representation of the patient voice in the ERN. It strives to create a bridge between EURO-NMD and the rare neuromuscular patient community so as to ensure that the needs of patients are included in the strategic and operational delivery of the ERN, and to ultimately improve access to high quality diagnosis, care and treatment.

The Patient Advisory Board coordinates the participation of patient representatives in the Network through regular conference calls, face-to-face meetings, and participation to Executive Committee and Network Board meetings (i.e. meetings of the governance structure).

Since 2017, the Patient Advisory Board is chaired by François Lamy (AFM-Téléthon). It has recently welcomed three new members: Dimitrios Athanasiou (MDA Hellas), David Stephenson (Muscular Dystrophy UK), and Massimo Marra (CIDP Italia) and is now comprised of 10 members from 8 countries: Belgium, France, Greece, Hungary, Italy, the Netherlands, Spain, and the United Kingdom.

b. Participation to Specialist Groups
Overall, close to 30 patient representatives are involved in EURO-NMD, taking part in one or several specialist working groups, namely: working groups on ethics, education, research, genetics, muscle diseases, peripheral nerve diseases, neuromuscular junction defects, mitochondrial diseases, motor neuron diseases, neuromuscular imaging, neurophysiology, and neuropathology. Leticia Sanjose Esporrin and Michela Onali are the most recent additions to the patient representative group.

Find out more regarding patient participation or contact us to get involved.

 
 
 
 
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Voices of Patients

Two members of the Patient Advisory Board told us more about their roles in EURO-NMD and their expectations of our Network. Here is what they have to say...

 
 

  F.Lamy

François Lamy, President of the Patient Advisory Board, AFM-Téléthon.

a. Tell us a little bit about yourself
“I am the father of an 11 year-old boy with Duchenne Muscular Dystrophy. I have been elected as a member of the Board of Directors of the AFM-Téléthon since 2012, and currently serve as its Vice-President in charge of research. I also serve on the Board of Directors of the Center for the Study of Stem Cells (I-Stem CECS) and YposKesi (AFM-Telethon co-funded Biotech acting in Gene and Cell Therapy).“

b. What is your role in EURO-NMD?
“My role, as all Patient Advisory Board members, is to coordinate the action of patient representatives within the Network and ensure that patients’ voice and point of view are taken into account in its activities. As patients, it is also our task to make proposals to the network of health care providers to improve patient care in Europe.”

c. What are your expectations of the Network?
“EURO-NMD is a wonderful tool to disseminate best practices of care throughout the continent. It has a key role to play in the context of inequalities of access to drugs and care between European countries. European legislation and position on this matter goes in the right direction (cross border care, cross European project funding, etc....) but its implementation lays on the joint effort of clinicians and patients. The value of the ERN comes from our dedication to reach that goal. “

 
 

Photo Madelon Kroneman  

Madelon Kroneman, Member of the Patient Advisory Board, Spierziekten Nederland

a. Tell us a little bit about yourself


“In 1996 I experienced the first symptoms of a muscular dystrophy. I was diagnosed with an unknown type that was quite similar to limb-girdle dystrophy. My neurologist kept on searching for the right diagnosis and in 2010 I was diagnosed with myofibrilar myopathy with a mutation in the desmin gene. Nowadays I am a full time wheelchair user and on non-invasive ventilation support in the night. I became active at the Dutch neuromuscular association in 1999, where I was the chair of the diagnosis group for muscular dystrophies and distal myopathies from 2002 to 2017. I am still active in this group as the editor of our newsletter and I follow the scientific developments for our group. I am also member of the user board of a fundraising organization that funds scientific research into neuromuscular diseases. The user board evaluates whether applications are in the interest of patients. In daily life, I am working as senior researcher at the Netherlands Institute of Health Services Research, where I am a specialist in international comparative research. Both types of experience made that I was interested in the work of the Patient Advisory Board. I am married and I have two wonderful daughters, aged 21 and 24.”

b. What is your role in EURO-NMD?

“As a member of the patient advisory board (PAB), I try to give a voice to patients in the Euro-NMD network, together with my fellow PAB members. I think it is important that patients can make clear what their expectations, wishes and hopes are for the network. I am especially interested in ethical issues. I hope to contribute to the establishment of a knowledge base that can help patients making informed choices concerning their diagnosis, treatment or in reproductive issues. Furthermore, I am especially interested in patient registries. I try to advocate for good access of patients to these databases and that patients remain the sole owner of their personal data. Data sharing is important, but should be done with consent of the patient only. Patients should be able to withdraw their data at any point in time and for no matter what reason. Patients also should be able to change their data when not correct in an easy manner.

c. What are your expectations of the Network?

“I have a lot of expectations for the network. I hope the network will contribute to faster diagnosing new patients with very rare diseases. Bundling the knowledge and knowing which expertise can be find in which centre will help in these matters. Also, I hope that treatment will improve by combining the knowledge on our rare diseases. A good example of this is the development of guidelines for the treatment of the diseases in our network. Through a uniform registration system of patients, insight in the number of patients, where they live will and how their disease progresses be gained. This will be very helpful when new treatments or new medicines are developed that have to be tested and hopefully implemented as care as usual. It is important that all patients all over Europe can benefit from these developments. Finally, I hope that patients that do not have fellow patients in their own country may use the network to contact other patients with the same disease in other countries to share experiences.”

 
 
 
 
 

Patient Advisory Board launches survey on new-born screening

The spectacular growth of methods of genetic screening and the arrival of the first drugs modifying the natural history of diseases raise questions related to the screening of neuromuscular diseases. The situation being very uneven in Europe, the EURO-NMD Patient Advisory Board has launched a qualitative study to take stock of the current state of play regarding screening around pregnancy and birth in European countries and of patients’ views on this matter.

Replies to this study will be anonymized, analyzed and used within the framework of the Patient Advisory Board activities. It is hoped that a second survey can be shared with HCPs and national institutions responsible for pre- and neonatal screening at a later stage.

 
 
 
 
 

Update from Patient Representatives meeting - July 19th 2019 Paris

  EURO-NMD Patient Advisory Board 2019

The Patient Advisory Board held a successful meeting with patient representatives on July 19th on the margins of the EURO-NMD 2019 Semi-annual Board Members meeting, which took place at the Institute of Myology in Paris.

Patient representatives reflected on their participation in the European Reference Network, and on ways to enhance cooperation with HCPs and increase patient participation to Specialist Groups and Advisory Boards in the future. Patient representatives who travelled to Paris were also able to network and exchange views and ideas with clinicians and practitioners who attended the Semi-annual Board Members meeting. Additionally, the work carried out by the Patient Advisory Board was presented during a plenary session of the Board meeting.

 
 
 
 
 
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Save the date for our 3rd annual meeting!

Don't forget to save the date for the 3rd EURO-NMD annual meeting.

6-8 November 2019 - Ferrara, Italy

 
 
 
 
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Summer break!!

It's that time of year again when we take our summer break. We won't be sending you an August newsletter as we hope so many of you will be taking the opportunity to take a break in the coming weeks.

We will return in September in the meantime any significant announcements will be made via our Twitter account @euro_nmd during this time. 

We sincerely hope you all have a lovely relaxing summer whatever your plans are.