Diagnosis

Diagnosis
Understanding Duchenne
What can I do now?
Talking with Children
Sources of Reliable and Trustworthy Information
Useful Resources

DIAGNOSIS

The first few days, weeks, and months after a diagnosis of Duchenne can be overwhelming and distressing as you try to understand and absorb this diagnosis and learn everything you can. We hope we can offer some comfort in the knowledge that we are here to share your journey. You are not alone.

No one will ever forget the day of diagnosis. Everything in your world changes forever, and yet so much will stay the same. Families find themselves grieving for things that are not yet lost, grieving for the futures they thought their child had, you may feel like you have no control. Grief can be all consuming and exhausting.

When your child or children are diagnosed with Duchenne, it affects not only the immediate family – parents and siblings, but also grandparents, extended family members and friends. Coping with other people’s distress as well as your own, can be extremely difficult. Everybody copes with difficult situations differently, it is important to recognise and accept this in partners, siblings, and other family members. There is no right or wrong way to feel now.

There is HOPE and Save Our Sons Duchenne Foundation is here to provide the ‘steppingstones’ to ensure that you have informed choices and access to information and resources throughout your family’s journey.

Understanding Duchenne

Understanding your child’s condition is empowering. It can help both you and your child to feel more in control of the condition and the impact on your child’s life and on your family.

It will also help you to be a good advocate for your child in accessing the best possible medical care.

What can I do now?

Every boy (and rare girl) with Duchenne is an individual and we cannot tell you exactly how their journey will be. Some may not crawl, walk, or talk as quickly as other children the same age. But many with Duchenne will reach these milestones at the same time as their peers.

Living with Duchenne requires active participation from health care providers, parents, siblings, extended family, and schools to ensure that each child thrives. We do know that the best available care at present is a combination of services and therapies. Some of the important information and services you should be aware of after diagnosis are listed below in alphabetical order:

Anesthetist

Should your child need a general anesthetic for surgery at any time, it is important to let the anesthetist know in advance that your child has Duchenne so that precautions can be taken.

Centrelink

You may be eligible for a Carers Allowance (an income supplement for carers who provide additional daily care and attention for someone with a disability or medical condition) or Carers Payment (an income support payment for people who personally provide constant care in the home of someone with a severe disability)

There are also additional payments available for children over 16.

Conferences

Save Our Sons Duchenne Foundation holds national conferences, allowing parents to network with each other, researchers, therapists and other health professionals. This is the chance for you to get find out the latest in the Duchenne field. To stay updated with Save Our Sons news and updates, join our newslettersign up .

Counselling

Although Save Our Sons Duchenne Foundation does not provide a counselling service, we recommend that you contact your state based Carers Australia for help and support.

Contact the National Carers Counselling Program on 1800 242 636 and Mensline Australia on 1300 78 99 78.

Diet & Supplements

It is important to work with your doctor and/or a dietitian to ensure children with Duchenne are getting all of the nutrients they require and to keep their weight within a healthy range, especially if they start on steroids. Vitamin D and calcium supplements are also recommended while taking steroids. Research is ongoing to find out if any other supplements are helpful for Duchenne. Some evidence exists supporting supplementation with ‘creatine monohydrate’, but the reported improvement in strength was quite small and there have been no long-term studies to assess safety. If you do decide to try any new supplement, we recommend talking to your doctor first to ensure there are no safety concerns and to work out the correct dose. It is also important to buy supplements from reputable suppliers, there are a lot of substandard products available especially through the internet.

Disability Parking Permits

These differ from state to state. Do a web search for Disability Parking Programs in your state to see the eligibility criteria. It is advisable to apply for these permits as it will assist in reducing fatigue in your young child.

Genetic Counselling

The purpose of genetic counselling is to help you understand how Duchenne or Becker can be passed on through families. It will help you to make informed choices about future pregnancies.

Neurologist

Specialist in Duchenne or Becker and will monitor your child’s strength and general physical well-being, manage treatments, keep you up to date with advances in research, and will coordinate care from other specialists and services.

Neuromuscular Clinics

In most states there are specialist clinics for those with Duchenne or Becker that bring together different doctors and specialists to review your child at one appointment. The clinics are run by a neuromuscular nurse, who will be your regular point of contact. Clinic nurses have a wealth of knowledge and are happy to answer any questions and will be a great support to you and your family. Save Our Sons Duchenne Foundation are funding Duchenne Clinical Nurse specialists in 5 hospitals across Australia.

Occupational Therapist

Equipment is available to improve your child’s comfort, mobility, and independence. Consulting with an occupational therapist will ensure that the equipment is right for your child’s needs.

Orthotist

An orthotist specialises in making splints (or orthosis) that are commonly called AFO’s (ankle-foot orthoses). These are made to measure for your child and are usually worn at night.

Patient Assisted Travel Schemes

Are an important element of providing equitable access to essential health services for people in rural and remote Australia.

Physiotherapist

Will monitor how your child’s muscles are working and provide you with a stretching program and instructions for doing stretches at home. Stretches are important to keep your child mobile, healthy and comfortable.

Registry

We encourage you to join Australian Neuromuscular Disease Registry. This online registry gathers all relevant clinical information about individuals with Duchenne and Becker in Australia. This information is stored in a secure database and the data used to improve access to clinical trials and emerging treatments, as well as improve care standards in Australia. Australian Neuromuscular Disease Registry is also an information hub for families who register – they gain access to the latest clinical trial news and information on research specifically applicable to them. For more information and to register visit:

https://www.saveoursons.org.au/australian-neuromuscular-disease-registry/

Scooters (Mobility Scooters)

Are fun and help a child keep up with their friends, whilst reducing muscle fatigue. They can conserve the child’s energy for the more important moments or tasks. For example; the scooter could be used to get to the library to save energy for walking around to choose a book. Please consult with your Occupational Therapist and Physiotherapist when you are considering a scooter for your child.

Speech Therapist

Speech and language therapy are usually recommended for younger children who may have suspected delays in speech and/or language development. Some children do have specific cognitive and language difficulties associated with Duchenne and Becker.

Steroids

Steroids are currently the only medication proven to slow the progression of Duchenne and Becker, but they can cause a long list of worrying side effects, which makes the decision of if and when to start them a tough one. It is important that you discuss any concerns you have with your doctor before making the decision to start steroid therapy. Read more about steroids here. (this should link to the following page:

https://www.saveoursons.org.au/steroids-endocrine-issues/

Swim Scooters

Are a recreational device which provides an activity for the children that is both enjoyable and therapeutic, helping a child with Duchenne or Becker to keep up with their siblings and friends in the pool. Using swim scooters, children with Duchenne or Becker achieve active and stretching exercises in the pool, with the added benefit of improving or maintaining respiratory function. A child with Duchenne or Becker does fatigue more easily than their peers, it is important to be extra observant when they are in the pool.

Teachers

A large part of your child’s life is spent in the school environment. Our “Teachers Resource Pack” is available to assist parents, teachers, and education assistants to better understand Duchenne and in the school environment, to assist in planning and providing a quality education for your child. Contact info@saveoursons.org.au to order a hard copy today.

Trampolines

Trampolines should be avoided. They can cause considerable stress on the muscles; they can also lead to severe fatigue and pain and can quickly damage the muscles. Trampolining although fun needs to be discouraged for a child with Duchenne or Becker.

Talking with Children

Most parents worry about what to say to their newly diagnosed child and siblings. This is a difficult area to offer advice on. What you do say will depend on your child’s/children’s age and level of understanding. Some people like to use the full term – Duchenne muscular dystrophy or Becker muscular dystrophy whilst others simply refer to it as Duchenne or Becker. What is important is to try to make sure that what you say is truthful and makes sense to your child.

You may choose to say something like “The doctors have told us that your muscles are weak which will make it hard for you to do some things. There are lots of people around the world working hard to find ways to make this better. There isn’t any medicine that will fix it now, but there are a few things we can do that will help (i.e. steroids, stretching).” Try to keep focus on the here and now – what it all means in the short term. Avoid looking too far ahead into the future. Keeping it simple and honest, without being scary, is a good start. You can then build on this information slowly as they start to ask questions.

Be open and approachable. It is important that children feel that it is okay to ask you questions about Duchenne or Becker – sometimes you may not know the answers – and that’s okay, you can always find the answers and talk about it later on. There is no right or wrong way to approach these discussions. You know your children best – do what feels right for you and your family.

SOURCES OF RELIABLE AND TRUSTWORTHY INFORMATION

While the internet can be a source of good information, it can also be a source of inaccurate and misleading information and false hope. Rely on your Neurologist for expert and professional advice.

Save Our Sons Duchenne Foundation has a wealth of information on its website and there are also many other patient organisations around the world providing useful and up-to-date information such as:

Parent Project Muscular Dystrophy (USA)

https://www.parentprojectmd.org/

TREAT NMD (Europe/International)

https://treat-nmd.org/

Muscular Dystrophy UK (UK)

https://www.musculardystrophyuk.org/

Muscular Dystrophy Association (USA)

https://www.mda.org/

World Duchenne Organisation

https://www.worldduchenne.org/