National Association of Patients with Mitochondrial Diseases Logo

Bulgarian Association Joins IMP

IMP extends a warm welcome to its newest member, the Bulgarian “National Association of Patients with Mitochondrial Diseases”.  The organisation is the only group to support people affected by mito in the country.

It was founded in December 2019 by seven parents who have children affected by mito, or who have sadly lost children to this devastating disease.

The association’s primary goal is to have mito included on the list of rare diseases in Bulgaria. The small team of dedicated volunteers who run the association are working closely with doctors who will provide the medical evidence needed to support their campaign. The association is a member of the Bulgarian National Alliance of People with Rare Diseases. 

Map of Europe

Its additional goals are to:

  • Find and support mitochondrial patients in Bulgaria.
  • Enhance knowledge about mito among health professionals and society in general.
  • Create educational and informational campaigns about mito and the problems faced by patients, individually or in collaboration with other organisations.
  • Improve patient access to: diagnostic services, clinical trials, treatments and therapies (including orphan drugs).
  • Create a register of mito patients in Bulgaria.
  • Collaborate with authorities to facilitate social integration and rehabilitation of mito patients.

 

For more information about this exciting new mito association please contact Mr Lyubomir Malamov – Chairman at This email address is being protected from spambots. You need JavaScript enabled to view it. or visit the Facebook page.

 

 

  Visit our Members Page to find out more about the organisations that are collaborating

in support of people affected by mito!

 

 

Word Mitochondrial Disease Week logo

World Mitochondrial Disease Week 2020

World Mitochondrial Disease Week raises awareness of mitochondrial disease (mito) on a global scale through educational, fundraising and advocacy activities.

Word Mitochondrial Disease Week logo

Visit the website to find out more.

Activities include the awareness raising campaign: Light Up for Mito, mass participation walking and running events, and Stay in Bed Day. Educational events are held for medical professionals and patients around the world. 

Facebook provides a vital platform to raise awareness and share news of events and activities taking place. 

IMP coordinates World Mitochondrial Disease Week with assistance from the Mito Foundation in conjunction with its members.   

 

LHON Awareness Day logo

 

 

 

 

 

19 September

We are delighted to launch the first ‘LHON Awareness Day’. 

It is hoped to raise awareness of Leber Hereditary Optic Neuropathy (LHON), a type of mitochondrial disease.

We encourage the global LHON community to raise awareness in their local community and to join the inaugural ‘LHON: One Condition, Many Stories’ event. 

Find out more.

 

 

  Working together we can focus the world’s attention on mito!

However you raise awareness, thank you!

 

Throughout the coronavirus (COVID-19) pandemic, the safety and well-being of all remains everybody's top concern.  While we cannot be together in person this year for Mitochondrial Medicine 2020, the UMDF continues their mission of education, support and research - virtually - and invites you to Power Surge 2020. The UMDF (United Mitochondrial Disease Foundation) is a member of IMP. You are welcome to share this information.

Please save the dates below and join our friends from the UMDF as they bring together the mitochondrial medicine community for this special virtual event. 

Friday, June 26 - Clinical trials and a comprehensive update on the latest in mitochondrial medicine. (CME will be available)

SCIENTIFIC/CLINICAL REGISTRATION

Saturday, June 27 - Patient/Family educational sessions designed to navigate these difficult times with an opportunity to ask questions and engage in conversation through live polling and chat. 

PATIENT/FAMILY REGISTRATION

See the agenda for Power Surge here We hope you will join.  Registration for all sessions is free.  

Make sure to visit the UMDF Power Surge 2020 webpage for updates.

 

 

 

 

May 2020

Mitochondrial disease will be in the national spotlight this summer as Coronation Street, one of the UK's most watched TV soap operas, features a storyline about a child with the condition. 

The storyline will run across multiple episodes of the popular ITV soap throughout the summer, in what is being seen as a momentous step in raising awareness about mitochondrial diseases and the impact they have on families. 

The Lily Foundation was approached by the show's research team last year to advise on the script and ensure it reflects the experiences of real families affected by mitochondrial diseases. The script was reviewed by Lily staff and Prof Bobby McFarland from the Wellcome Centre for Mitochondrial Research, who is on the charity's Medical Board. Families supported by the charity were also consulted. 

The storyline involves the characters Leanne Battersby (Jane Danson) and Steve McDonald (Simon Gregson), and their three-year-old son Oliver (Emmanuel and Jeremiah Cheetham) who starts suffering with debilitating seizures. Oliver's seizures are at first put down to a febrile convulsion, but when he suffers another seizure he’s rushed to hospital for tests, where doctors start to fear it could be something more serious. As they await a diagnosis Leanne and Steve try to stay strong for Oliver, but a further seizure leads to talk of a possible mitochondrial disease. 

In coming months Leanne and Steve will be forced to come to terms with the devastating diagnosis, which leaves Oliver with a life-limiting illness for which there is currently no cure.

The emotional storyline will highlight the plight of hundreds of families in the UK, and many more around the world whose lives have been devastated by mitochondrial diseases.  Coronation Street is the world's longest running soap opera, regularly drawing over 5 million viewers, and numbers have increased since the coronavirus lockdown. 

We wanted to do justice to the stories of the many thousands of families who have to deal with diagnoses similar to Oliver’s, be it a mitochondrial disorder or another life-limiting condition."Commenting on her role as Leanne, actor Jane Danson said: 

“We’ve worked closely with Liz Curtis at The Lily Foundation. It was harrowing hearing the story of what happened to her daughter Lily but also really amazing to hear how people come through this, how they support each other and learn to live again. It’s almost too much to comprehend but I came away from the meeting bowled over by her bravery and how amazing she is as a human being. She shared with me how she felt emotionally, how she got through her days, how people rallied around her. I’ve also read a lot of literature about how families cope around their children’s diagnosis with life limiting illnesses, looking at the human elements to their stories amidst all the medical speak and hoping I can get it right. It is quite overwhelming, I’ve been so lucky to have so many stories with Leanne over the last 20 odd years but this one feels different, this one could really break her and it feels like it’s the one where I’ve got the most responsibility to get it right.”  

 Liz Curtis, CEO and co-founder of The Lily Foundation said:

“All of us at The Lily Foundation are excited to be working with Coronation Street on a storyline about a child with a mitochondrial disorder, and grateful to the show for highlighting an issue that affects hundreds of families in the UK. For everyone who has worked hard for years to raise awareness about mitochondrial diseases, in particular for families living with a diagnosis and those who have lost a child, having their story told on one of the nation's most popular soap operas is truly momentous news. There is currently no cure for mitochondrial diseases, so those diagnosed face an uncertain future. We have been impressed with how sensitively the show's researchers and script writers have handled this, listening to those who have been affected by the disease and the doctors who support them. We see this as a very positive step in our ongoing fight to raise awareness about mitochondrial diseases, support affected families and fund research to find a cure.”

Of his decision to tackle this difficult storyline, the show's producer Iain MacLeod said: 

“This is a story about a family coming to terms with the most difficult news anyone can face and the ways in which this strengthens and shatters relationships in unpredictable ways. Above all, we wanted to do justice to the stories of the many thousands of families who have to deal with diagnoses similar to Oliver’s, be it a mitochondrial disorder or another life-limiting condition. It is something that, as a society, we find difficult to talk about but which is all too common. The taboo around these illnesses can mean awareness is low, which means funding for research is low. Aside from telling a brilliant, moving and emotionally complex story, we really hope to draw attention to this subject to change this situation for the better.”

 

 

This article specifically aims at neuromuscular disorders (myopathies) but is of value to all patient communities.

In the field of neuromuscular disorders, engaging patients has since long been recognised as key issue. For patients and patient organisations, it is the time to discuss how and when they want to be engaged in research and health care and how patients want this co-creation process to further develop.
An effective example of the involvement of patient organisations in the neuromuscular research field is the European Neuromuscular Centre (ENMC) itself. The ENMC was co-founded by a group of neuromuscular patient organisations and clinicians to encourage and facilitate communication and collaboration in the field of neuromuscular research. Since then, a structural collaboration began between the ENMC Research Committee, consisting of researchers and clinicians working in the field, and the Executive Committee, consisting of patient organisation representatives. Moreover, ENMC encourages active participation of patients in each of its workshops.

A special workshop hosted by ENMC in Milan to celebrate its 25th anniversary aimed at discussing the level of patient participation in a set of domains considered relevant for the neuromuscular community with key stakeholders. The following topics were chosen for discussion:
1. psycho-social support of families going through the processes of screening and diagnosis
2. transition from child, to adolescent to adult patient
3. healthcare-related research that has major impact on daily life
4. registries and biobanks
5. clinical trial design
6. regulatory and consenting processes

[The concept of shared decision making was used throughout the workshop’s discussions to characterise the partnership-based identification of the wishes and needs of all stakeholders involved. Although the theory and enactment of shared decision making in healthcare are well-described in the literature, comparatively less attention has been devoted to contextualizing questions related to if, when, and how to include patients in decisions within medical research. At the meeting, the “ladder of participation” tool served as a model to evaluate the actual and the desired level of patients’ involvement in all topics addressed (Ambrosini et al, 2019; Lochmüller et al, 2019). Accordingly, patient’s role starts from providing “information” and advice (“consultation”), which are important steps towards the collection of patients’ knowledge and engagement if accompanied by an active listening of their voice by the other stakeholders. Higher levels of engagement are represented by the levels of “collaboration” (partnership in a project) and “control” (initiative of a project).

For the complete article go to ENMC White Paper: The position of neuromuscular patients in shared decision making. 2020

© 2021 Int. Mito Patients