This week’s blog was written by our Projects Officer, Sophie.
On the 10th November, Sophie attended the Action Duchenne Annual International Conference in Leicestershire
In this blog she shares her highlights and what she got up to throughout the day.
The 10th of November marked a day I had been anticipating for a while.
Waking up at the crack of dawn to catch a train to a place I’d not heard of before – Hinckley –to attend a conference on a disease I was not particularly familiar with – Duchenne Muscular Dystrophy – was a somewhat apprehensive experience.
However, bleary-eyed and buzzing with excitement (or was it the coffee?), I walked into the Leonardo Hotel.
Entering the room, I was immediately greeted with a hubbub. This became a familiar friend throughout the day, with even the moments immediately before and after each talk monopolised by the sound of connections being formed and strengthened.
This truly was truly a multi-stakeholder event. You never quite knew who you’d be sat next to, meaning each delegate was thrown in with pharmaceutical representatives, charity workers, parents, carers, academics, healthcare professionals, as well as people living with Duchenne.
Despite the potential challenges of catering to such a broad audience, the Action Duchenne team managed with ease, with three streams to choose from: Duchenne Science 101, the Duchenne Journey and Living with Duchenne.
Representing an umbrella organisation, and personally interested in both the patient perspective and the science, I felt completely spoilt for choice and had to fight the FOMO of being unable to be at every session!
Between each slot were scheduled generous 20-minute breaks which were inevitably, but happily, charged with Q&As. These led us down fascinating tangents, but they did mean I didn’t get to sample the purportedly ‘excellent’ pastries. I soon became richer in insight, if not in butter!
After a wonderfully warm welcome from the CEO and the Head of Trustees, the first talk I attended was Duchenne 101, focusing on genetics and carriers.
As an X-linked condition, I was surprised to learn that girls can also be affected by DMD through genetic mechanisms such as X chromosome inactivation.
Additionally, new research on DMD carriers shows that they have a higher predisposition to cardiac issues, muscle weakness, and cognitive impairment. These women are calling for more understanding of this issue and regular physical checkups and counselling, especially as X-inactivation ratios, and therefore symptoms, can change with age.
This impact on women, a group not typically associated with DMD, makes me wonder whether other diseases, rare and common, have similar related pathologies and patterns which are just not acknowledged yet.
This may well be leaving individuals to deal with each manifestation in isolation, rather than as a syndrome, causing warning signs of potentially serious effects misunderstood.
Moving rooms, ‘Neurodiversity in Duchenne’ focused on the lesser-known symptoms of DMD that can be even more difficult to manage for families and carers.
The missing dystrophin which causes the muscular dystrophy in the body also affects the GABA (inhibitory) neurons in the brain. As a result, 75% of people with DMD have one or more behavioural, learning, emotional, or developmental issues and 65% have two or more.
With school teaching being 80% language-based, these children are on average 2 years behind their peers. Yet, currently, they don’t automatically get extra support from schools without an additional diagnosis.
One of the main debates of the day was why Duchenne patients have to go through the long, and sometimes disappointing process of getting diagnosed with dyslexia, ADHD, or autism when they are already genetically predisposed to these conditions.
Inherently linked was the next talk on mental health and wellbeing.
The main take-home for me was the role those around rare disease patients can play in helping them experience success, even in the smallest ways.
I learned that success is vital for boosting self-confidence and self-esteem, things often knocked by many factors such as being behind at school, unable to partake in ‘normal’ childhood activities and the stigma and prejudice against disabled individuals.
The Q&A here brought up the important yet taboo conversation about sexual wellbeing and the fact other countries do it better. This is surely another of many areas where we as a society are not helping the rare disease community as much as we could be.
What followed was an excellent buffet lunch, a chance to speak to exhibitors and explore the venue. Time flew and it was soon time for the afternoon sessions.
First was a review of the current Duchenne trials, including an interesting study exploring Immersive Virtual Reality (IVR) to help children engage better in physiotherapy!
This was followed by an ‘Ask the clinicians anything!’ session, which, like the other Q&As of the day, was a real leveller, mainly focusing on the patient and carer voice.
A variety of topics were covered, from the fact treatment approval seems quicker in the US, the issue of raising awareness of non-muscular symptoms, negating and weighing up the potential effects of long-term steroids, and UK clinical trial involvement for international patients.
With two Beacon conferences coming up in the next five months, it was great to witness a masterclass in running an international event.
The organisation and timings were superb, with nothing feeling rushed or hassled, and the networking that peppered the whole day was top-notch. Personally, I gained a real sense of pride in being able to offer support to people representing all areas of the DMD space.
I feel privileged to have been able to attend this conference in person, to learn more about the community and the day-to-day reality of living with Duchenne.
There is certainly lots more work to be done, but I’m sure this event proved invaluable to many delegates, allowing them to feel seen, supported and better understood.
Thank you to Action Duchenne for hosting such a wonderful event!
Thank you, Sophie for sharing a roundup of the conference with us.
We hope you enjoyed reading!
