Newcastle Patient Information Day 2019

On the 6th April 2019, the Wellcome Centre for Mitochondrial Research (WCMR) and Newcastle Clinical Team hosted their 12th Annual Patient Information Day. This saw over 120 patients and families come together from around the UK to hear the latest in mitochondrial disease at Newcastle’s largest patient meeting to date. The event was attended by members of the multidisciplinary team within the WCMR, including consultants, nurses, physiotherapists, speech and language therapists, research associates, genetic technologists and PhD students, and was supported by the The Lily Foundation, the UK’s leading mitochondrial disease charity.

The introduction to the Patient Information Day was given by Prof Sir Doug Turnbull, who provided an overview of the NHS Highly Specialised Service for Mitochondrial Disease and the clinical service in Newcastle. He highlighted how the clinic has grown over the years, with the Newcastle Team now caring for over 900 mitochondrial patients across the UK. Prof Turnbull went on to talk about the close relationship the WCMR have with The Lily Foundation, and the importance of working together to improve the lives of those affected by mitochondrial disease. He also mentioned Euromit 2020, the largest international conference on mitochondrial disease that will be held in Newcastle next year. This will see mitochondrial experts from around the world gather for the scientific meeting, with clinical training, Early Career Researcher sessions and a patient meeting running in conjunction.

Prof Turnbull’s final announcement was that after 35 years of caring for patients with mitochondrial disease, he would be taking a step back from the clinic and passing the reigns to Prof Bobby McFarland. After taking to the stage, Prof McFarland talked about some of the amazing achievements and accolades given to Prof Turnbull over the years. This includes his knighthood back in 2016 and recently announced Fellowship to the Royal Society, which reflects a career dedicated to helping those living with mitochondrial disease.

This was followed by several talks given by members of the clinical team. Prof McFarland talked about recent advances in mitochondrial disease, including the use of mitochondrial donation as a reproductive option that will allow some mothers with mitochondrial disease to have a baby genetically related to the mother. Prof McFarland stressed the importance of long term follow up of any babies born by the novel IVF treatment, which will be part of a research study led by Prof McFarland and the team. He also outlined the care pathway that has been developed by the Newcastle Team with valuable patient input.

Dr Grainne Gorman and Dr Jane Newman talked about treatments and trials for mitochondrial disease, highlighting the progress that is being made in the field of mitochondrial medicine across the world. This included details of a clinical trial called AIMM (Acipimox in Mitochondrial Myopathy) that will take place in the WCMR after Dr Gorman secured £1.2million in funding from the Medical Research Council. The trial is due to start recruiting patients soon.

The next speaker was Dr Rhys Thomas, who recently joined the Newcastle Mitochondrial Clinical Team and is as an Honorary Consultant in Epilepsy, who talked about the use of cannabinoids in mitochondrial disease. His talk aptly named ‘Cannabinoids – joint hopes and high aspirations’, discussed the current lack of convincing evidence to support the use of this type of chemical in the treatment of mitochondrial disease.

The next session covered the day to day management of symptoms often associated with mitochondrial disease. This included a talk by Dr Andy Schaefer on muscle weakness, fatigue and diabetes control in mitochondrial disease. Alison Davison, our Speech and Language Therapist, followed with a talk about swallowing and provided advice for patients who experience problems when eating. Nurse Consultant Catherine Feeney finished the session with a talk on her favourite subject – the bowels!  This can be a serious problem for patients with mitochondrial disease and Catherine provided advice for those who suffer with gut problems. She also talked about problems with the bladder, which is important given that a recent clinical study performed by Catherine and the team revealed that bladder dysfunction is common in mitochondrial patients.

The final session saw Rosemary Bell talk about benefits advice for patients with mitochondrial disease. This is something Rosemary has worked on for many years, over which time she has secured more than £2million in benefit payments for mitochondrial patients. This is due to her vast experience of the ever-changing benefits system but also her understanding of mitochondrial disease and how it affects people. Dr Julie Murphy, our Public Engagement Manager in the WCMR, then gave an overview of patient engagement initiatives that have taken place in the WCMR with cross-faculty collaborators. These ranged from art collaborations with the National Trust and Fine Art Department at Newcastle University, to an international MYTO design event with Open Lab that saw mitochondrial patients from UK and Europe develop ideas to transform the lives of those living with mitochondrial disease. The final talk was given by Dr Lyndsey Butterworth from The Lily Foundation who talked about their recently launched adult support service. Dr Butterworth emphasised the importance of listening to those affected by mitochondrial disease and encouraged patients and families to have their say on the services offered by the charity.

A drinks reception hosted by The Lily Foundation then took place, which provided a chance for patients and families to meet with members of the Lily Team and find out more about the charity and how they support patients and families.  There was also an opportunity to learn about some of the research performed within the WCMR.  This involved our researchers setting up ‘Researcher Tables’, with fun and interactive activities to engage patients with their area of research. This is always popular at our patient meeting and this year was no exception! There were a variety of activities, including ‘Jenga’ which was used to explain how many individual building blocks are needed to make up the energy chain within mitochondria, and the effect that removing one or more of these building blocks can have on the energy chain. Patients could also become ‘Lab Detectives’ and find out more about the journey of a diagnostic sample in the laboratory or have a go at ‘rainbow pipetting’ using some of the equipment routinely used by researchers in the lab. There was also an opportunity to learn more about fruit flies and how they can be used as a model of mitochondrial disease.

Dr Rhoda Stefanatos, a Henry Wellcome Postdoctoral Fellow in the WCMR, gave up her time to support the event and ran a very popular researcher table explaining how she uses fruit flies in her research. Dr Stefanatos said, “Having the opportunity to engage with patients and their families was a real privilege. I really enjoyed demonstrating how we use microscopes to work with the flies on a daily basis in the lab and everyone was willing to give it a go”.

The day was rounded off with an evening meal, which offered the perfect opportunity for patients and families to relax, share stories and get to know each other in a less formal setting.  The social aspect of the meeting is such an important part of the day given that our patients come from all over the UK and can often feel quite isolated. Our hope is that this will encourage peer to peer support and most importantly, lead to long lasting friendships.

Overall, the Newcastle Patient Information Day was very well received, with one patient saying, “Such a brilliant day. Every person who played a part in making this day a success is wonderful. So informative, and so great to be united in a common cause. Lovely people, hosting, presenting, and attending. I can’t wait to become a regular at these events!”

Another patient said, “An informative, useful, engaging day meeting everyone and learning so much. Thoroughly enjoyable so thanks to everyone who organised, presented and attended. My sister and I got a lot out of the day”.

We would like to thank all the patients and families who attended the Patient Information Day, and all members of the WCMR and Newcastle Clinical Team who took part and helped with the organisation. A special mention goes to Dr Julie Murphy and Nurse Consultant Catherine Feeney for the organisation of the event, and Jane Brown who managed registration and was responsible for the smooth running of the day.