Read how the Pompe Support Network marked International Pompe Day 2023.
Saturday 15th April 2023 marked International Pompe Day and Pompe Support Network celebrated the day with an excellent turnout from the Pompe community at our Pompe Spring Meeting, held at the NeuroMusclar Centre in Winsford, Cheshire. The International Pompe Day theme of “Every Move Counts” was reflected in many of the discussions.
Pompe Support Network Chair, Allan Muir, hosted the meeting and opened with an insight in to the ongoing work that PSN are doing with the Pompe community. Allan spoke about the array of activities including the WORLD symposium in Orlando (which PSN attended in February this year), Pompe & Circumstance, This is Rare, PSN's podcast series, along with the This Little Thing I Do book, Pompe Travel information cards and the Tutti Toot trumpet amongst other rehabilitation innovations.
Following Allan was Professor Mark Roberts, Consultant neurologist at the Salford Royal Hospital, who very kindly agreed to attend at Winsford to speak to the Pompe community. Mark began by giving a fascinating overview of Pompe Disease and its origins by Dutch physician, Johannes C. Pompe. Mark opened for questions throughout his 90+ minute talk, encouraging questions of any topic to be asked of him to ensure the desired information was being shared with the community. A host of topics were discussed especially the new enzyme treatments; Nexviadyme by Sanofi and Pombility by Amicus Therapeutics. Mark discussed his support of Newborn Screening, and the need for genetic testing to patients who are looking to start a family, and, when asked, elaborated on PGD (Preimplantation genetic diagnosis), where an embryo is fertilised and analysed in a lab to determine if Pompe (or other rare conditions) are apparent before implanting the embryo.
Mark was asked to discuss the current developments on Gene therapies and also his thoughts on nutrition studies, which Mark believes the Dr Slonim programme of high protein diet has great results alongside a regular exercise regime had great merit. Mark stressed that more can be done with nutrition. Enzyme treatments are important, but they should be run alongside positive nutrition, exercise, and Vitamin D.
Mark thanked the community for their questions and said the questions really helped him know and understand what the community want.
After tours of the NeuroMusclar Centre by Sara Lalieu and regular client at the centre, Andrea Duckworth, we were then given a presentation of the Mollii Suit by Pompe Support Network Trustee, Kevin Annesley. Kevin is halfway through a 3-month trial period of the Mollii Suit and shared his experiences with us all. Kevin’s first experience with the suit was very positive, where he felt improved strength for 4-days following the use of the suit, especially helping his muscles when rising from a chair and driving. Since then, Kevin has experienced a few issues with the suit which include back spasms and a possible frozen shoulder, so he is now awaiting further discussions with the manufacturer to discuss how to go forward. The NMC physiotherapist at the meeting felt it sounded like overuse of Kevin’s muscles and suggested that he reduce the level of stimulation to the muscles or reduces the frequency of wearing the suit, or both, instead opting to slowly build up and allow the muscles to gently adapt. We will post the full update from Kevin in due course.
A Virtual Reality demonstration by PSN Communications Manager, Alex Jones, followed a pre-recorded presentation from VR Healthy Managing Director, Katie Hoolahan, who explained how VR experiences can help keep us moving and to improve the physical and mental health of people living with health conditions such as Pompe Disease. The demonstration was thwarted a little by poor wifi signal, but it was discussed that we will look to host Virtual Reality demonstration days if there is enough interest within the Pompe community.
Finally, considering the international theme to the meeting, the group discussed ways of helping people travelling overseas with translations of useful words and phrases. It was agreed to create a template for a small number of cards to be created in English, and for national Pompe groups around the world to be asked to provide translations and also useful emergency information.
It was a wonderful day, not only with all the information being shared but to see the community come together and chat, something which has been lost over the past few years. We have such a friendly community with fantastic people, and we received so many comments from the attendees who revelled in the chance to meet each other face-to-face and feel the warmth of the community.
We would like to thank the NeuroMusclar Centre and all their staff for making us feel so welcome, Professor Mark Roberts, Kevin Annesley and to everyone who attended the day and made it such a success.