Advocacy around the world! The Duchenne Caregivers Masterclass
Lisa Kuhwald attended the Duchenne Caregivers’ Masterclass in Madrid on behalf of Duchenne UK as part of her volunteer role as our Advocacy Support Officer.
I was given the wonderful opportunity to attend the Duchenne Caregivers’ Masterclass in Madrid on behalf of Duchenne UK.
It was an honour to meet with patients and parents of children with Duchenne and Becker from all around the world. The people there represented patient organisations from 16 countries, covering Europe, Russia and the Middle East. This was the first meeting of its kind to examine how organisations can shape the landscape and become better advocates. It was very humbling to see the range of different struggles experienced by people across the world, and it was a valuable experience to learn about what other advocates are doing and to discuss and share best practices.
In a room full of advocates, there was, understandably a lot of underlying heartbreak. And that heartbreak is devastating. But I looked around to see that heartbreak being turned into something else: strength and determination to make a difference, and I found that so energising and inspiring !
There were a number of different presentations including one on the the pathophysiology, genetics and therapeutic approaches to treat Duchenne from Prof. Annemieke Aartsma-Rus.
Pat Furlong, the founder of Parent Project MD (PPMD) told the moving story of her 30 years of involvement in the Duchenne world, and how research is changing the Duchenne landscape. Whilst, Fillipo Bucello, Parent Project, Italy, discussed the role of patient advocacy groups.
So what did I take from this meeting?
That we are all fighting the same fight - to give our children with Duchenne a better life. Everyone wants access to treatments, better standards of care, to slow this disease down, to learn about the disease and the day to day input we can have to make the maximum difference.
It was clear that everyone has the same struggles and many wake in the night googling research and new treatments. There is an unbelievably supportive community around the world and by working together and sharing best practice, we will achieve our goal much more quickly.
Some really important information for me, and something which enabled me to implement practical measures at home and provided me with a ‘checklist’, were the new standards of care guidelines, explained by Nathalie Goemens, from the University Hospital Leuven, Belgium. These guidelines are a great source of information, and a good place to find the best practices of how to care for Duchenne patients. We need to ensure that these are widely adopted throughout the UK and internationally.
It has been shown that interventions do affect the natural history of DMD, and as new therapies come along, the guidelines will reflect this. The guidelines are a great ‘go to’ place to ensure all needs are being met for your son at every different stage of Duchenne. With high standards of care, we can hope to extend life expectancy and have many more special times with our family.
Standards of care:
The full document can be found:New 2018 DMD Guide for Families - UK Version here.
There are 3 new topics included in the 2018 guidelines:
- Primary care and emergency management
- Endocrine management
- Transitions of care across patient’s lifespan.
The aims of these new guidelines are:
- To address the needs of patients with prolonged survival, many patients are living longer and therefore it’s important to amend the guidelines accordingly.
- Provide guidance on advances in assessments and interventions.
- Consider the implications of emerging genetics and molecular therapies for DMD.
Duchenne patients should be seen by a multidisciplinary team, with the neuromuscular specialist as the lead clinician. Areas also need to cover endocrine, rehabilitation, cardiac, bone health, orthopaedic, psychosocial, transitions, respiratory, gastro intestinal and nutrition. All of these departments will be involved in the patient’s care at different stages.
Summary of changes since the last guidelines:
- Recommendations to manage steroid side effect
- Respiratory criteria for when to initiate cough assist been adjusted.
- Cardiac MRI rather than an echo from age 6/7 years… as cardiomyopathy is not always detected on an echo. Something I hadn’t realised and will ask about at our next appointment.
- ACE inhibitors to be started prophylactically before age 10 years…. Please see Sejals blog?
- Add in Beta Blockers too, recommended for those with cardiac dysfunction.
- Behavioural and emotional difficulties recognised.
- Specific recommendations to manage:
Depression, anxiety, OCD, Anger, emotional dysregulation, ADHD
It’s still not clear:
- When the optimal time to start steroids is: results from the FORDMD trial should hopefully add more information to this debate.
- There is no consensus on the use of growth hormone.
I also attended a practical class ran by physiotherapist, Marina di Marco from Scotland.
You can access Marina’s videos here: http://www.smn.scot.nhs.uk/patients-and-families/education/
A big learning curve for me here was the importance of doing hand stretches from an early age. This is something I hadn’t done before, and I hadn’t been recommended to do by any physio that my son has seen. Marina recommended to add these to his daily stretching routine. Stretching fingers can help with everyday simple tasks, e.g., playing on a games console or driving a powered wheelchair.
Marina talked about the importance of a combination of doing stretches and using orthotics, it is best to do these when the muscles are warm, after a bath or when using a hot tub.
Excessive muscle exercise is not good, e.g. fast changes, changing direction or trampolining.
Doing sub maximal activity is good, e.g. Swimming and cycling, the muscles aren’t working at their hardest, its low intensity exercise and still important to have rests.
When boys overdo exercise, they are at a risk of releasing myoglobin, you can see this is happening if your child has dark (coca cola coloured) urine. My son experienced this for the first time last week, a scary time, after a day/evening in the sunshine with his friends. He was recommended to drink lots of fluid and rest.
Marina recommended that a combination of activities is best to ensure all muscle groups are used. Playing is great for this, but save energy for fun, e.g. go to the park in the wheelchair and then play. When doing exercise look for symmetry. We need to check 90-degree posture, standing frame and beds for posture.
We also discussed sleep problems: This is something my friends and I have all been discussing recently, for all children. Getting my boys off screens close to bedtime is a big challenge. The urge to let them have 10 more minutes, whilst I can get on with something is else is always so tempting. With Duchenne boys, the need to then sleep in at the weekend is often more difficult due to steroid use, so they don’t get the extra rest they may need.
Something that resonated with me, was this: no sleep – irritable – emotional – depressed - fatigued.
What we should aim for is: Sun, rest, exercise, diet, self-confidence, friends.
I really relished learning more about the background of Duchenne, the advocacy strategies around the world and meeting many more patient advocates. I realised that we need to campaign to ensure patients get fast access to new treatments: this is fundamental, there’s no point funding research and clinical trials if we cannot gain access to new drugs fast enough.
My overall lesson from the meeting was: Don’t wait until someone does something, do it now!
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