Information Films

We were delighted that many leading experts could join us at our 2017 Lily Family Weekend, to share their knowledge and provide current information on various aspects of Mitochondrial Disease.

The Lily Information Sessions included a series of Mitochondrial Disease Lectures divided into 4 categories that covered an overview of Mitochondrial Disease, practical advice, current treatment strategies and research updates. Full slides can be accessed separately by clicking on the pink pdf link above each video. 

We would like to extend a huge thank you to the Wells family and Interaction Film, who kindly recorded and edited our 2017 information sessions.

Overview of Mitochondrial Disease

Dr Andy Schaefer began the lecture session by discussing some of the key concepts around mitochondria and Mitochondrial Disease. His talk contains a lot of useful information around what mitochondria do and importantly, what happens when they go wrong. The take home message of his talk is that Mitochondrial Disease is a huge umbrella term for literally hundreds of different diseases, meaning that everybody can be affected differently. He finishes his talk by saying that although there is currently no cure for Mitochondrial Disease, progress in medical research means that the future is bright. lily_2017_dr_andrew_schaefer_-_overview_of_mitochondrial_disease_2iYEjco.pdf

Practical Advice

Dr Jane Newman began the Practical Advice lectures by discussing the benefits of physiotherapy in patients with Mitochondrial Disease, with a focus on posture, walking/balance and exercise. She highlights that exercise doesn’t have to mean grueling sessions in a gym but can be incorporated into daily life, with activities such as walking the dog or climbing the stairs. For those who may find this difficult, she talks about the importance of standing with or without support, which can be good for many things including your muscles and bones. She stresses that everyone with Mitochondrial Disease is different and so it is important to check with your medical team before starting any kind of physical activity. Her take home message is just to move, without worrying about how much or how little. lily_2017_dr_jane_newman_-_physiotherapy_and_exercise.pdf

Nurse Specialist Catherine Feeney continued the Practical Advice session by discussing nutrition and hydration in patients with Mitochondrial Disease. Her talk covers what foods provide the best ‘fuel’ for mitochondria and includes hints and tips for keeping energy levels up, such as eating little and often. She goes on to describe the ‘low residue diet’, which is a low fiber diet recommended for some Mitochondrial Disease patients who suffer with gut problems. This diet would not be suitable for everyone and so it is important to discuss this with your clinician or dietitian. lily_2017_sister_catherine_feeney_-nutrition__hydration.pdf

Robyn Aldridge from the charity Matthews Friend’s followed with a talk about the ‘ketogenic diet’ that could help in the management of conditions such as Mitochondrial Disease. She describes what the ketogenic diet is, with some examples of ketogenic meals, and goes on to explain how it works and what it involves. She highlights that the ketogenic diet is a medical treatment that is prescribed and fine-tuned around an individual’s needs and is something that should not be undertaken alone. It requires a team approach, which can include support from ‘keto diet assistants’ such as her mum Val who also works with the charity. lily_2017_robyn_aldridge_-_ketogenic_diet_intro.pdf

Dr Victoria Nesbitt closed the session by discussing practical advice for children with Mitochondrial Disease. Her talk includes information on what medications should be avoided, and the use of certain medications that are currently being debated, followed by the importance of immunisations, advice during times of illness and what you should do if your child needs an operation. She talks about the use of personal information sheets that can be taken to any GP or hospital if your child becomes unwell when away from home, as well as the benefit of contacting your local paediatrician to negotiate direct access to your hospital. Dr Nesbitt goes on to talk about advanced care planning, coping with Mitochondrial Disease and supporting siblings, and provides some fantastic resources to help with this at the end of her talk. lily_2017_dr_victoria_nesbitt_-_practical_advice.pdf

Current Treatment Strategies

The next session was covered by Dr Rob Pitceathley who talked about treatment strategies for Mitochondrial Disease, including some exciting new approaches that are currently at the research stage but may be available in the future. He emphasises that although there is no cure for Mitochondrial Disease, there is still a huge amount that can be done to help patients now. This can include taking certain vitamins and food supplements, such as Coenzyme Q10, which is the only treatment to be routinely prescribed and can help some patients with fatigue. He stresses the importance of health surveillance and regular monitoring, and describes some of the early signs of illness that patients or parents should be aware of. He also mentions the Rare Mitochondrial Disorders Service website as a fantastic resource for patients and professionals. lily_2017_dr_robert_pitceathly_-_current_treatment_strategies.pd

Research Updates

Dr Yi Shiau Ng began the Research Update session by discussing the process that all new drugs must go through before they can be offered to patients. Amazingly, it can take up to 12 years from the point of discovering a potential drug to get it to clinical trial and finally to market. He discusses the importance of preclinical research, which involves testing new drugs in the lab using cultured cells and animal models of disease. This is followed by clinical trials, which are made up of 4 different phases that involve healthy volunteers and then small numbers of patients. Dr Ng explains the benefits of orphan drug status and drug re purposing, and finishes by highlighting the importance of patient registries, including the MitoCohort. lily_2017_dr_yi_shiau_ng_-_treatment_discovery.pdf

Prof Bobby McFarland closed the lecture session with an update on what drugs are currently being trialled in patients with Mitochondrial Disease.  He mentions that most of these trials are taking place in the US, possibly because the regulation there makes them easier to set up, but that there are clinical trials taking place in the UK. He discusses the different modes of action that drugs may have to tackle the problems associated with Mitochondrial Disease and goes on to describe several drugs that are currently being trialled. He finishes by highlighting the importance of the MitoCohort and having a group of patients who are clinical trial ready. lily_2017_dr_mcfarland_-_clinical_trials_update.pdf

Lectures from our 2015 Lily Family Weekend.