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

Photo of woman looking out of a window, Photo by Danielle MacInnes on Unsplash

30 March 2020

Mental Health and the Coronavirus

An impaired immune system is often experienced by mito patients, and so coronavirus poses is a very serious risk.  Many patients and their families have already been self-isolating for some time. But the coronavirus doesn’t just threaten our physical health, self-isolation and stress have the potential to damage our mental health as well.

Your mental health is as important as your physical health

The coronavirus is causing patients and their families concern. What are the implications of catching COVID-19? How can I avoid it? Will I be able to get prescriptions fulfilled? What to do if other symptoms require medical assistance? What is the risk of going to hospital? How will I get groceries? How will I pay my rent/mortgage if my job is compromised? All of these worries, coupled with self-isolation itself can lead to feelings of anxiety, stress and depression, to name just a few.

Virtual support

IMP has a closed Facebook support group, many of our members have their own support groups, and there are others that focus on specific types of mito. Sometimes, sharing fears and talking to others who understand, can really help.

Some of our members offer a telephone and/or email helpline, visit their websites to find out more. IMP also offers support via email (This email address is being protected from spambots. You need JavaScript enabled to view it.). 

Dealing with Stress*

  • Talk to someone – access a Facebook support group, pick up the phone, or chat to a friend via video.
  • Keep moving – even limited exercise can make a difference. There are lots of online exercise classes from gentle yoga and stretching, to Zumba dance classes, PE for kids and more strenuous work outs. Search on Facebook or You Tube for something that interests you. Walking up and down stairs, jogging on the spot, or doing weights using tins of beans are all activities that don’t require any equipment and can be tailored to your level of fitness.
  • Challenge unhelpful thoughts, the way we think can impact the way we feel – watch a short video created by the British National Health System (NHS).
  • Find something positive – everyday think about three things that you are grateful for, ie the sun is shining, I am doing everything I can to stay safe from COVID-19, I am spending time with my child/parent/spouse.
  • Create a healthy sleeping pattern – everyone’s sleep needs are different and stress can negatively impact on good sleep. Keep a pad of paper by your bed and write down your worries - putting them on paper can relieve your mind and make it easier to sleep.
  • Limit the amount of time you spend watching/listening to the news. The situation is changing rapidly around the world, and with 24 hour news channels and social media, it is easy to focus on the worse case situations.
  • Make time to do something you enjoy:
    • Read a book – some online book stores have made their books and audiobooks free during the pandemic
    • Draw, paint or get crafty
    • Meditate – there are lots of free online mediation sessions
    • Try creative writing – there is a story in all of us
    • Do a puzzle
    • Learn a new language – google online language courses
    • Learn about history, art or different cultures via museums’ websites 

 

Mental Health Support 

Many mental health organisations are offering advice and support related to Coronavirus, some examples are listed below, google ‘coronavirus and mental health’ to find out what support is available in your country: 

The National Health Service in the UK: Every Mind Matters

Mental Health Europe

Centres for Disease Control and Prevention, USA

 

During the coronavirus pandemic, it is important that as a community, we come together to support each other – together we are stronger.

 

 

*Based on information from Every Mind Matters

 

 

 

Image of pill

16 March 2020

List of Medicines to be Used with Caution in Primary Mitochondrial Disease

IMP is aware that the recently published updated List of Medicines to be Used with Caution in Primary Mitochondrial Disease has caused some confusion within the mitochondrial disease patient community. 

Elja van der Veer, Chair of IMP, stated, “We are grateful for the feedback we have received from patients around the world directly and via our member organisations. We updated the List to ensure that the latest insights and new clinical and scientific evidence was considered. There are some drugs that previously had a blanket restriction on them. This has resulted in some patients not gaining access to them, when in fact they would have a positive impact on their health. The evidence that was reviewed by the experts demonstrated that although some drugs cause an adverse reaction in some patients, they can be beneficial to others and should not be labelled harmful to all patients with primary mitochondrial disease. We recommend that patients speak to their treating specialist who will be able to advise them on their individual case.”

The List was compiled by 16 independent international experts in mitochondrial medicine, including clinicians, pharmacologists and scientists, who reviewed scientific data regarding 50 drugs/drug groups. The experts used a rigorous process combining a scientific method, evidence-based research and the latest peer-reviewed literature to reach a consensus on all the drugs on the original list, ensuring they were able to accurately identify drugs which had the potential to cause mitochondrial toxicity as opposed to those which had been previously listed based on patient case reports which could not be linked directly to their mitochondrial disease.

No pharmaceutical companies were involved at any stage (during the process or from a financial perspective).

It is crucial to remember that people can respond differently to drugs and side effects can occur in anyone and are not necessarily related to primary mitochondrial disease. 

The List has been produced as a guideline for patients, carers and non-specialist doctors. Patients should seek advice from their medical specialist, who will consider their personal medical history. 

 

Frequently Asked Questions

Why are some drugs that have previously been deemed ‘unsafe’, now reclassified as ‘safe’?

The most up-to-date evidence-based data indicates that some drugs, previously thought to be ‘unsafe’, actually benefit some patients. It is vital that these drugs are not dismissed or withheld from patients who need them.

Patients should seek guidance from their medical specialist, who will take their individual case into account before prescribing any drug. All drugs included in the List should be used with caution. 

Should I use a drug that has been categorised safe, if I have had an adverse reaction in the past?

Patients who have an adverse reaction to a medicine are advised to consult their clinician, even if the medicine has been categorised 'safe' for them on the list.

Can one drug have a different effect on people with the same type of mitochondrial disease?

Yes! Every patient reacts differently to medication – seek advice that is relevant to you and do not rely on anecdotal evidence, even if it's from other patients with the same disorder.

Should my medical specialist follow this List?

The List has been produced as a guideline for patients, carers and non-specialist doctors. Patients should seek advice from their medical specialist, who will consider their personal medical history before prescribing any drugs.

Were pharmaceutical companies involved in the new List? 

No pharmaceutical companies were involved at any stage (during the process or from a financial perspective).

Who were the experts that updated the List?

The following clinicians, pharmacologists and scientists from six different countries produced the list. They are experts in mitochondrial medicine and represent many of the world’s leading clinical and research institutes.

Maaike C. De Vries, Shamima Rahman, Laurence Bindoff, Michelangelo Mancuso, Gráinne S. Gorman, David A. Brown, Mitchell E. Allen, Amel Karaa, Nandaki Keshavan, Costanza Lamperti, Robert McFarland, Yi Shiau Ng, Mar O'Callaghan, Robert D. S. Pitceathly, Frans G. M. Russel, Kristin N. Varhaug and Tom J. J. Schirris.

See reference article for more background on the experts.

 

Access List of Medicines to be Used with Caution in Primary Mitochondrial Disease

Washing hands

13 March 2020

Coronavirus and mitochondrial disease

A message from the Chair of IMP...

To our global mito community,

We know that the rapidly changing coronavirus pandemic is deeply concerning for the mito community around the world. It can be hard to keep up with continually changing guidelines of the public health authorities. But one thing we know is that COVID-19 is a threat to everyone, and affects the daily life of everybody. 

Many of our mito warriors go through more in one day, than most people can imagine in a lifetime, and each and every day their families support them with love and kindness. Coronavirus is another challenge to face, another hurdle to overcome, and by coming together we can help each other through to the other side.

As a community, together, we can face this new challenge. We will share experiences, tips, advice and perhaps most importantly, hope.

Please take care of yourself and each other. Keep well, together we are strong!

Elja van der Veer
Chair/President of IMP

 

Advice for people affected by mito.

A number of our members have produced guidelines regarding coronavirus. These guidelines are being regularly updated, so please check their websites and social media feeds regularly to ensure you have the latest advice. 

We recommend following your local government advice and speaking with your medical practitioner if you experience any of the symptoms of COVID-19.

 

Read advice from:

Mitocon

Muscular Dystrophy UK

Spierziekten Nederland

The Lily Foundation

United Mitochondrial Disease Foundation

 

Coronavirus Infographic

Infographic: European Centre for Disease Prevention and Control

 

© 2020 Int. Mito Patients