Empowering patients in the fight against mito - News - The Lily Foundation
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Empowering patients in the fight against mito


10 April 2019

As healthcare providers increasingly turn to patients and their families for expert input, we look at The Lily Foundation's role in promoting patient advocacy.

A group of people with their hands on top of each other

Ever since The Lily Foundation was founded in 2007, one of its primary goals has been to listen to people affected by mitochondrial disease and give them a say in the services and support available to them. Patient advocacy is important in all areas of healthcare, but particularly so in the complex field of mitochondrial medicine, where symptoms often vary from person to person, depending on the type of mito disease. Mitochondrial specialists acknowledge this, often saying that their patients are the real experts and that they know more about their disease than their doctors. The Lily Foundation prides itself on giving patients and their families a platform to have their voices heard.

By listening to patients and their families, we have helped ensure that the services provided by our charity and partner organisations (including the NHS) are appropriate, effective and ethical. Patients have helped inform our policy making at every turn, from the support services we provide to new diagnostic techniques and research into potential treatments. As a result, the patient voice' has never been louder in the field of mitochondrial medicine. Many doctors, clinical specialists, researchers, drug companies and healthcare providers all now include patient advocacy groups in their policy-making.

After years of campaigning, we're starting to see drug companies and healthcare organisations taking a more proactive approach to involving mito patients in their decision making"The noise has even been heard at national government level. In 2015, patients and families represented by The Lily Foundation successfully lobbied for a change in UK law to allow mitochondrial donation, an IVF technique that makes it possible for women with some types of mitochondrial disease to have healthy babies. The first patient licence for the procedure was granted in January 2018, making the UK the first country in the world to make the technique legally available to patients. Australia now looks set to adopt a similar change in legislation, and the hope is that other countries will follow. This is an example of patient power at its most effective.

"After years of campaigning, we're starting to see drug companies and healthcare organisations taking a more proactive approach to involving mito patients in their decision making," says Alison Maguire, Head of Research and Finance at The Lily Foundation.

"Instead of us having to fight to make our voices heard, researchers and policy makers are now coming to us to request access to patient cohorts for their studies. There's still a lot of work to be done to get to where we want to be, but we're delighted to see things moving in a positive direction."

In recent years, increased public awareness and improved diagnostic testing have resulted in more adults being diagnosed with mito. In response, the Lily Foundation launched a dedicated adult support group in July last year, which now has over 200 members. Feedback collected from patient information days, surveys and online forums has already been used to inform the charity's policy and aims, as well as those of national and international bodies involved in the fight against mitochondrial disease and other genetic conditions. This information is then used to help direct research, design clinical trials, develop potential treatments and create clinical care guidelines.

Here are some of the recent projects The Lily Foundation has been involved in where patient power has played an important role:

Developing guidelines on reproductive options for people with mito

The Lily Foundation recently took part in a European Neuromuscular Centre (ENMC) workshop on reproductive options for families with maternally inherited mitochondrial disease. Part-funded by The Lily Foundation and organised by leading mito specialists Prof Jo Poulton (Oxford) and Prof Bobby McFarland (Newcastle), the workshop reviewed the latest advances in the understanding of how mitochondrial disease is inherited, and discussed ways to improve guidelines for counselling patients on these issues. Some 'Lily families' attended the workshop to share their experiences, and patient groups were consulted to provide personal viewpoints and case studies that will inform the new guidelines.

Providing more reproductive choice for people with mito

Working with Genetic Alliance UK, The Lily Foundation invites patients and families to share their  experiences with the Human Fertilisation and Embryology Authority (HFEA), so that the regulatory body can approve the use of certain reproductive options that may help others affected by mitochondrial disease. These reproductive options aim to prevent or reduce the risk of faulty mitochondria being passed on to the next generation, providing more reproductive choice for those affected by mito and are considering starting a family.

A group of mitochondrial disease patients sat on chairs in a circle talking to each other
Lily Patient Information Days give people affected by mito a chance to have their voices heard

Setting priorities for new research

The Lily Foundation is part of a multi-party steering group set up to identify key questions that patients, carers and healthcare professionals would most like to see answered through research. Working in partnership with other charities including the LHON Society, Muscular Dystrophy UK and Genetic Alliance UK, we have designed a questionnaire that allows patients and other stakeholders to have their say. The aim of the so-called ‘Priority Settings Partnership’ is to identify the top ten research priorities that will help set the agenda for mitochondrial disease research both in the UK and worldwide.

New drug development

The Lily Foundation supports PREFER, an international project that aims to explore patient’s health priorities and seek views on potential treatments for mitochondrial disease. The project looks at what patients or carers think about different treatments, and the balance between possible risks or benefits that the treatment may offer. The end result will be recommendations to support development of guidelines for industry, regulatory authorities and HTA bodies, and will help pharma companies design more patient-centric treatments and trials in the future. Lily has participated in the project by helping in the organisation and running of patient focus groups in partnership with MDUK and Newcastle University (home to the Wellcome Centre for Mitochondrial Research). The next step will involve inviting patients to take part via an online survey which will be available later this year.

Developing guidelines for the management of MELAS syndrome

The Lily Foundation recently took part in a consensus meeting to develop guidelines for the diagnosis and management of stroke-like episodes often seen in MELAS syndrome. The charity invited patients and carers to share their experiences of living with MELAS, and then presented these as case studies at the beginning of the meeting. The presentation was well received, with the experts saying it highlighted the need for a consensus paper and set the tone for the duration of the workshop. The plan is to publish the care guidelines so they can be accessed by doctors but importantly, a patient-friendly version will also be made available to patients and carers on the Lily website.

Want to get your voice heard?

The Lily Foundation is committed to empowering patients and their families to improve the lives of people affected by mitochondrial disease. Opportunities for involvement include Lily Foundation events, patient information days, online support groups, surveys and participation in research projects. For more information visit the NHS Rare Mitochondrial Disorders Service website or email [email protected].

Need someone to talk to?

We provide a free counselling service for patients affected by mitochondrial disease in conjunction with Rareminds. Find out more.