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January 3rd, 2020

New Year’s Message from MDI CEO Elaine McDonnell


Dear All

2019 proved to be a busy, exciting and challenging one for Muscular Dystrophy Ireland with many achievements. We have had some changes in staff throughout the year and would like to express thanks to staff who have moved from the organisation and welcome the new people on board.

One of the greatest milestones was the decision of the HSE to approve two treatments for MD – Translarna for a type of Duchenne and Spinraza for the treatment of SMA. This happened as a result of campaigning by members and their families supported by MDI. There is yet more work to be done as Spinraza has only been approved for use in people under the age of 18, and there have been challenges around the delivery of treatment to this group. IPPOSI, the Irish Platform for Patient Organisations, Science and Industry, produced a Charter for Patient Involvement in February of this year which should prove invaluable to any member interested in trying to get access to new treatments or drugs.

We are currently revamping the website. This is still a work in progress as it will take time to update the information provided so we will keep you informed. We are developing a new database next year which will streamline the services we undertake, improve our communications, and enable us to provide valuable reports and statistics to stakeholders. We will be in contact with you about this shortly.

We look back on a number of activities organised by MDI staff in 2019. These included coffee mornings, youth groups engaging in activities such as, a day in Mondello, virtual reality party, confidence building workshop, a sibling day and summer respite camps. At the request of members, we also ran a seated yoga course in head office. In addition to other activities, we implemented the STRIVE (Strategies to Realise Innovation, Vision and Empowerment) programme last year which aims to encourage and support independent living through personal development. 30 young people took part in this initiative. The programme began with a confidence-building element and, from this, individual and group projects evolved, based on the needs and wishes of participants. We hope to take the concept of STRIVE and further introduce it in our programme of services.

In order for MDI to provide the best possible supports and services to our members, we need to be confident that all of our work is underpinned by best practice in service delivery and governance. During the year, we have done a lot of work in relation to the organisation. We have completed a draft of the Constitution (formerly called the Memo and Articles) and this is in the process of being agreed. In addition, the Board and Management have taken part in workshops to assist in compliance with the Charities Regulator.

Producing a Strategic Plan for MDI was a huge piece of work for the organisation during the past year and thanks again to those members, staff and Board who took part in the information gathering part of the process. The Strategic Plan 2020 – 2022 is being printed at the moment and we look forward to sharing it with you shortly. The next step in the process is to put the plan into action. The first step of putting the strategic plan into action involves reviewing all the services we currently provide to ensure they are in line with the direction and commitments in the plan and, crucially, MDI needs to be confident that services to members are fit for purpose. The work we carry out to serve members, therefore, needs to be supported by a robust framework of policy and procedures, followed by training of all staff, so that we can stand over our commitments to you, our members. This clearly takes time to put in place to ensure quality and consistency of service.

As you are aware, the process of planning camps begins in January each year. This does not allow sufficient time to have all processes in place and accordingly the summer camps service will not go ahead during 2020. Members have requested more opportunities for social engagement and more peer-led activities and we are already exploring options in relation to this. We will keep you informed as we look forward together to a new year.

Best wishes for 2020,

Elaine McDonnell
CEO – Muscular Dystrophy Ireland

MDI Joint Funding Scheme HRCI & the HRB

November 28th, 2019

MDI Joint Funding Scheme with Health Research Charities Ireland and the Health Research Board

MDI is excited to have recently announced a call for research proposals under the Health Research Charities Ireland and the Health Research Board Joint Funding Scheme. We have encouraged proposals for all types of research, including basic, clinical, psychosocial and health services research. Proposals relating to any of the neuromuscular conditions covered by MDI are eligible to apply. The initial application deadline was in November 2019. The shortlisting process is rigorous, involving MDI’s Research Committee and also international peer review. Once the shortlisting is completed, MDI will then submit up to three proposals to the Health Research Board in early April 2020 for its consideration. If we are successful, the selected project(s) will be funded jointly by MDI and the Health Research Board, beginning November 2020. The award will be for maximum total of €150,000 over three years.

Muscular Dystrophy Ireland is committed to supporting researchers and clinicians to carry out the best quality research into neuromuscular conditions.  We aim to:

  • Gain a greater understanding of neuromuscular conditions in order to develop potential treatments and ensure a route for clinical trials
  • Support more studies into ultra-rare conditions
  • Facilitate quality of life research.

Our research priorities are to:

  • Optimise the potential of genetics in order to enhance our understanding of why people with the same condition are affected differently and, also, so that more people receive a confirmed genetic diagnosis, which will help us to better understand the conditions.
  • Understand disease mechanisms
  • Support treatment development
  • Improve quality of life.

We hope to be announcing good news about our research applications later in the 2020.

To view the original call for research proposals and downloadable resources click here.

Further information is available by contacting Maeve Healy, MDI Information Officer on mdiinfo@mdi.ie or on our website www.mdi.ie.

Research Call 2019-2020

October 24th, 2019


Muscular Dystrophy Ireland (MDI) is pleased to announce a call for research proposals under the Health Research Charities Ireland (HRCI) and Health Research Board (HRB) Joint Research Fund. Projects funded under this call will begin in November 2020.


Opening Date: 24 October 2019

Closing date for pre-application form: 18 November 2019 (Expired)

Closing date for full applications (if shortlisted): 17 January 2020

Duration of Funding: 12 to 36 months

Level of funding: Up to €50,000 per year



Global Registry for COL6-related dystrophies

September 12th, 2019

The Global Registry for COL6-related dystrophies is a research database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these conditions.  The registry team is based at Newcastle University, UK.  The registry aims to; improve clinical trial readiness, encourage and facilitate further research into the COL6 related dystrophies, provide researchers with data to support their research and assist doctors and other health professionals by providing them with up-to-date information on managing COL6-related dystrophies, to help them deliver better standards of care for their patients.   For more information on how to participate please visit www.collagen6.org or contact the curator at collagen6registry@ncl.ac.uk

Study of Adult Neuromuscular Conditions in Ireland

January 21st, 2019






A Population-Based Epidemiologic Study of Adult Neuromuscular Conditions in the Republic of Ireland

There have been no previous studies in the Republic of Ireland looking at how many adult patients there are with different diseases of the muscles and nerves. We call these conditions ‘neuromuscular conditions’. This study is underway at Cork University Hospital and Beaumont Hospital, Dublin under direction of Dr. Aisling Ryan, Consultant Neurologist, CUH and Prof. Orla Hardiman, Consultant Neurologist, Beaumont Hospital. We are enrolling adult patients with neuromuscular conditions throughout the Republic of Ireland.


In this study we would like to find out exactly how many patients there are with different adult neuromuscular conditions in the Republic of Ireland. This will help us to form lists of patients and find out how common these conditions are, and to generate registers of specific conditions. These registers will be a useful way of ensuring that patients can be kept informed about the latest information that might be relevant to their disease including the latest treatment options. Sometimes there are clinical trials of potential new drugs, and registries will facilitate the inclusion of Irish patients with neuromuscular conditions.


  • To obtain the prevalence data about the number of people with adult neuromuscular conditions in the Republic of Ireland
  • To generate specific registries for certain neuromuscular conditions
  • To generate specific care programmes for patients with adult neuromuscular conditions


Click here to find out more information about the study and enrolling procedure from the Patient’s Information Leaflet sample.Those who are interested to participate in the study or have further questions please do not hesitate to contact Dr Stela Lefter, Neuromuscular Research Fellow, mobile: 086 0245886 or via email: stela.lefter@hse.ie

New Chief Executive Officer

December 20th, 2018

Elaine McDonnell, CEO, MDI

Elaine McDonnell, CEO, MDI

Dear Members and Friends of MDI,

We are pleased to inform you that, following a rigorous, fair and transparent recruitment process for the post of Chief Executive Officer of MDI, Ms Elaine McDonnell, current Interim CEO has been appointed to the full role, effective from 4th February 2019.

Elaine is extremely well known amongst our membership. As a parent of a young adult with muscular dystrophy, she is very aware of many of the challenges that living with muscular dystrophy may bring. Elaine and her family were among many energetic members from the Midlands region who over the years, helped to raise much needed funds and create essential awareness of the condition of muscular dystrophy. Elaine has been involved with Muscular Dystrophy Ireland for nearly 20 years and throughout this time she has served on various committees and sub-committees at both local and national level. She served on the National Executive from 2007 to 2017 fulfilling different roles including National Treasurer, Vice-Chairperson and Chairperson of MDI. Since February of this year, Elaine has worked tirelessly in the role of Interim CEO to bring stability to our organisation.

Building on the foundations laid from the beginning of 2018, with Elaine’s new appointment, Muscular Dystrophy Ireland will continue its work as a member led organisation that listens to the voice of our members and strives to meet the needs of every Individual who needs our support. This will be further supported by the rolling out of our new strategic plan, and we look forward to working with Elaine, our staff, and our members in completing and then implementing this plan over the coming years.

After the significant challenges of the last 3 years since the untimely loss of Joe T Mooney, it is very much time for MDI to begin building upon his legacy and refocus on our values and mission. This is a really important time for our organisation and I hope you will all join me in congratulating Elaine on her new appointment and continue to support and engage with MDI as we strive to develop our organisation for the benefit of all of our members.

Finally, on behalf of everyone in MDI, may I take this opportunity to wish you, your families and friends a peaceful Christmas and a happy New Year.

Yours sincerely,

John Rooche
?Muscular Dystrophy Ireland

Cavan, Monaghan, Louth Head Office - Dublin, Kildare, Wicklow Cork and Kerry Carlow, Kilkenny, Waterford, Wexford and Tipperary South Clare, Limerick and Tipperary North Laois, Longford, Offaly & Westmeath Galway, Mayo & Roscommon Donegal, Sligo, Leitrim

1. Muscular Dystrophies

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Manifesting carrier of Duchenne
  • Congenital muscular dystrophy - General
  • • MDC1A (merosin-deficient congenital muscular dystrophy)
  • • Rigid spine syndrome (RSS)
  • • Ullrich congenital muscular dystrophies
  • • Bethlem myopathy
  • Emery-Dreifuss muscular dystrophy

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core Myopathy
  • Minicore (Multicore) myopathy
  • Myotubular or Centronuclear myopathy
  • Nemaline myopathy

4. Mitochondrial Myopathies

  • Mitochondrial Myopathies

5. Metabolic Disorders

  • Metabolic disorders (general)
  • McArdle’s Disease
  • Pompe’s Disease

6. Periodic Paralyses

  • Periodic Paralyses

7. Autoimmune Myositides

  • Polymyositis, Dermatomyositis and Sarcoid myopathy
  • Juvenile dermatomyositis
  • Inclusion body myositis

8. Spinal Muscular Atrophies

  • Severe (Type I)
  • Intermediate (Type II)
  • Mild (Type III)
  • Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

  • (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

  • Congenital myasthenic syndromes
  • Myasthenia Gravis

11. Friedreich’s Ataxia

  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle types of muscular dystrophy (LGMD) - General
  • • LGMD 1B (also known as Laminopathy)
  • • LGMD 1C (also known as Caveolinopathy)
  • • LGMD 2A (also known as Calpainopathy)
  • • LGMD 2B (also known as Dysferlinopathy)
  • • LGMD 2I
  • Ocular myopathies including ocularopharangeal muscular dystrophy

12. Other (Please Specify)

13. Unspecified