Alex Johnson: “If there is only one guide you ever read about Duchenne it should be this. It will allow you to arm yourself with all the information you need to make sure you get the best care for your child. You don’t have to read it all in one go. Take your time, read a section at a time. Highlight points and make notes of anything you don’t understand or concerns you that your child isn’t getting access to. Reach out to your doctor, care advisor or us to discuss the guide and get any additional information you need.”

Emily Crossley: “Unfortunately the care standards of boys with DMD can vary quite substantially. That’s why it’s important to read these new guidelines, which will give you the information you need to fight for the best care for your child at your medical Centre. The information is based on what clinicians and physiotherapists have known and developed over the years. Some advice, for instance on cardiac care, may not necessarily be known by the cardiac team looking after your son, so it’s important to have the right information so that you can ask the questions when you go to your clinic appointments. “

ROBYN PETE: “Research and technology have come on so much since the last publication and it really shows, but as always, Primary care is so vital. I think having this guide will enable medical teams, patients and parents to now have the questions they need to help navigate the best care, for now and moving forward.

Generally, it’s great to see how much more specific and documented information on Duchenne there is in comparison with such a short time ago. I recognise how much of the new information is gleaned from adults living with Duchenne, which pleases me. I particularly enjoyed the emphasis on the need for improved education and encouragement for a more fulfilling quality of life for adults living with Duchenne.

I chose to focus on the adults with Duchenne because I spent a day at the assisted technology conference with DMD pathfinders and was blown away at their determination and enthusiasm for life – it has to be nurtured from the start.”

JANET HOSKIN: “The new Family Guide for the DMD Standards of Care is incredibly useful to enable young people with DMD to get the lives they want. Take it to every meeting in school and with the Local Authority so that everyone is aware of the complexity of DMD. Everybody involved in your child’s life needs to understand the level of support needed for him to reach his aspirations. All Education Health and Care Plans and Support Plans should refer to these Guidelines and adhere to the recommendations for assessment and care. All teachers, health professionals and social workers need to have a copy because most people won’t have heard of this rare and complex condition.”  

Transition:

‘It’s great to see a section on Transition in the new DMD Family Guidelines. Young people with DMD are overwhelmingly living into adulthood and we need to make sure they have plans for the future that will ensure they can lead happy and fulfilled lives.’  

Psycho-social:

‘As the Family Guide says, early intervention for learning and behaviour is so important. Our young people are at high risk of dyslexia, ADHD and ASD and working with them early on can make a huge difference. Supporting emotional and mental health is also incredibly important.’

‘The family guide to DMD is a much needed document in our struggle for the very best care and support for everyone who lives with DMD. Everyone should have the opportunity to live positive and meaningful lives as adults, and poor care and support through childhood can make this difficult.’ 

‘As the Family Guide says, children with DMD cope best if their family can be open about their condition. It’s important to work out support strategies to deal with the emotional toll this can have on our lives. Support from mental health specialists for all the family should be available so that families and young people can develop the skills to become emotionally resilient.’

Endocrine:

‘It’s good to see Endocrine included in the Standards of Care. Currently, one of the only treatments available to boys with DMD is steroids, but these can seriously impact on bone health, growth and puberty. Regular monitoring and input from an endocrinology team can help to address these issues.’ 

Emergency:

‘Great to see advice about Emergency treatment in the new Family Guide. Going to A and E can be very stressful as there is so much to remember to tell the doctors. This will be incredibly useful to take with us in future!’

 

LISA KUHWALD: “One of the hardest things about having a child with Duchenne is having to navigate the disease and his care myself. Yes of course we have some wonderful professionals to help, it’s important to take all their advice, but, as a parent, I want to be proactive, learn as much as I can about his condition, ask the right questions at his appointments, at the correct point in his progression, whilst ensuring everything is in place at school – the responsibility is often overwhelming!

The new standards of care document aims to help with this. It is a great guide to refer too and acts as a ‘checklist’ to ensure we are getting the best care we can and advises on how to implement practical measures at home. It is a good place to find the best practices of how to care for Duchenne patients who require care and support from different settings and health professionals. Better standards of care will hopefully slow this disease down and the guidelines advise on the day to day input we can have to make the maximum difference.

I recently attended a meeting on the new standards of care. My son, now 7, has recently started to struggle and some really important information for me was the orthopaedic and surgical management section. I was able to learn about the extreme importance of physiotherapy and very pleased that this information is reflected in the updated guidelines as it’s so important that patients and practitioners are aware of it’s relevance in Duchenne.

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 di Marco, Scottish physiotherapist, 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 need to do a combination of stretches and using orthotics, it is best to do these when the muscles are warm, after a bath or when using a hot tub. Stretching improves circulation to the muscles, moves joints through the entire range of motion and decreases tightness. All hopefully leading to longer ambulation. You can access Marins videos here: http://www.smn.scot.nhs.uk/patients-and-families/education/

It has been shown that interventions do affect the natural history of DMD, and as new therapies come along, the guidelines will reflect this. With high standards of care, we can hope to extend life expectancy and have many more special times with our family.”