Processing a new diagnosis
A diagnosis of CMD can be a huge shock for parents, siblings, extended family members and friends. It is normal to feel an overwhelming mix of grief, confusion, anxiety, loneliness and helplessness as your family’s life has been forever changed. Everyone will have different ways of getting through this time but it’s important to know that help and support are available for you, your child and your family. Hear advice on processing your diagnosis from a community member with shared experience.
Getting help processing a new diagnosis
There are many ways you can seek support as you process a new diagnosis:
- A psychologist is a university-qualified health professional who can help you talk about your thoughts and feelings to understand and cope with the challenges you and your family are facing.
- A counsellor is a trained professional who can help you talk about and work through problems.
- A social worker can provide information and support to people experiencing a range of issues including family problems, anxiety, depression, crisis and trauma.
- A genetic counsellor can help you understand how CMD is inherited and whether there are any implications for other members of your family. Your specialist will be able to advise whether a genetic counsellor is required.
- Your state or territory neuromuscular organisation can provide support, advice and information about living with CMD.
- Your GP can talk to you about a mental health plan and how you can use this to help you access the support and services you need.
- Other people and families living with CMD have also experienced the emotional rollercoaster that comes with a diagnosis of CMD and are able to understand exactly how you’re feeling. You are not alone. Connect with other people and families living with CMD in The Loop Community.
How to talk to your child and others about a new diagnosis
Having a conversation with your child or a loved one about a diagnosis of CMD is not easy. In fact it will probably be one of the hardest talks you will have. But, like all difficult conversations, it is important and necessary.
There are many reasons why parents may not want to have this conversation, mostly centred on wanting to protect and their loved ones.
But avoiding the topic is not helpful. Children are often aware of the differences between themselves and their siblings and/or peers and may hear their condition being discussed. At some point your child with CMD will have questions and it’s important you answer these as honestly as possible, reassuring them that they have done nothing wrong.
So it’s crucial that you have a role in your loved one learning about a CMD diagnosis. This will enable you to support them as they process the information and to be on hand to answer any questions they may have. Together you can learn about the journey ahead.
It will also allow you to:
- provide answers to questions in an age-appropriate way
- correct any misinformation your child has heard or read
- show your child that you have faith in their ability to handle difficult conversations.
Ultimately, these conversations are an important step in providing your child with the tools to succeed, navigate their world and develop independence and self-advocacy skills.
There is no right time to start this conversation. Research suggests the earlier you do so, the more natural the conversation will become. The important part is to pick a time and commit to it.
Some important do’s and don’t
- Do be positive but also realistic
- Do reassure them that they have done nothing wrong and this is not their fault
- Do tell them they will do many wonderful things in their lives – they may just do them differently
- Do tell the truth. Answer all their questions.
- Do consider your language. Try to avoid negative or emotive words, such as ‘suffering from a condition’.
- Do use daily living examples that they can relate to.
- Don’t avoid answering questions and don’t shut the conversation down.
Remember, it is okay to be upset during the conversation but try to avoid breaking down as this will only cause your child greater distress. Children are resilient and they generally handle information of this nature far better than adults.
Understanding CMD and how it’s diagnosed
What causes CMD
CMD is caused by changes (also called mutations) in genes (the parts of the cells that tell the cells what to do). The faulty genes affect the production and function of proteins, the building blocks of muscles. Proteins are important for muscles to work, heal and repair. The proteins affected by CMD are either missing, produced in large amounts, not made properly or don’t work correctly, leading to muscle weakness and damage.
Different forms of CMD are grouped together depending on which protein within the muscle is impacted. In some CMDs the affected proteins, such as collagen and laminin, provide structural support for the muscles. Other types of CMD are caused by problems with a protein called alpha-dystroglycan. This protein normally combines with a sugar molecule to form an important link between the muscle cells and their surroundings. In CMD, the protein and sugar molecules aren’t able to combine, meaning the protein can’t perform its linking role properly.
Only about 25% of CMDs have an identified genetic cause.
What are the types of CMD?
There are at least 33 different types of CMD. They are grouped together depending on which protein within the muscle is impacted.
Types of CMD include:
- Collagen VI related myopathy – these conditions are caused by changes in one or more of the collagen VI genes. The faulty genes result in very little or no collagen produced, or the production of abnormal collagen proteins. Without collagen the structure of the muscle cell weakens. Subtypes include:
- Laminin α2 related dystrophy – is the result of a genetic mutation of the laminin apha-2 gene that makes a protein called merosin. Merosin is important for maintaining muscle cell structure. Without merosin the muscle cell weakens.
- Merosin-deficient CMD - Cure CMD has more information about merosin-deficient CMD on
- Dystroglycanopathies – also known as alpha-dystroglycan related dystrophy. The genes involved in this form of CMD affect a protein called alpha-dystroglycan. This protein is important in helping connect the cell to the structures outside and around the cell. Subtypes of this group of conditions include:
- Fukuymama CMD
- Walker-Warburg Syndrome
- Muscle-eye-brain disease
- Cure CMD has more information about these types of CMD.
- SEPN1 related myopathy – also known as rigid spine muscular dystrophy or multi-minicore disease. The protein affected in these types of CMD is called selenoproteinN1. Cure CMD have more information about this group of conditions.
How is CMD diagnosed?
CMD might be suspected when doctors notice a baby is “floppy” at birth or when parents or healthcare workers notice that the infant is not meeting normal developmental milestones, such as lifting their head during tummy time, rolling or sitting.
CMD can be difficult to diagnose and a series of tests are often used to try to make a diagnosis, including:
- A blood test to measure the levels of creatine kinase(CK) in the blood. CK often leaks from damaged muscle cells into the blood. High levels of CK in the blood can suggest a muscle problem but does not confirm CMD.
- Genetic testing looking for changes in one of the genes that cause congenital muscular dystrophy. This is usually done by sending a neuromuscular panel, which looks at a number of genes causing muscle disorders. Further information about genetic testing can be found on the Healthdirect website.
- Electromyography (EMG), a test that involves inserting tiny needles into a muscle to record its electrical activity. An EMG can show if there is any abnormal electrical activity in the muscles or the nerves that control them. Children with an elevated CK level do not usually require an EMG.
- MRI scans of the brain can show changes that can be seen in the brain with congenital muscular dystrophy or help to rule out other conditions that cause similar symptoms.
- A muscle biopsy is used to narrow down the type of CMD. A doctor removes a tiny piece of muscle for examination under a microscope to see if there are abnormalities of the muscle fibres. It is minor surgery. Specific muscle proteins can also be studied under the microscope to try to identify the cause of CMD. This test is being done less frequently with improved genetic testing.
The genetics of CMD
Most forms of CMD are inherited in an autosomal recessive pattern. This means both parents must be carriers of the faulty gene and both must pass on this gene to their child. If both parents are carriers, the likelihood of a child inheriting the condition is 25 percent, or one in four pregnancies. Carriers do not show signs and symptoms of the condition. Often a family has no idea that some members are carriers until a child is born with CMD.
LMNA-related CMD, Bethlem myopathy and sometimes Ullrich CMD are inherited in a different way, called an autosomal dominant pattern. This means only one copy of the faulty gene, inherited from either parent, is enough to cause the disorder. On average, half the children from a parent with the faulty gene will inherit the condition.
If your child has been diagnosed with CMD, your family will usually be referred for genetic counselling. Genetic counsellors are medical professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand CMD and what causes it, how it is inherited, and what a diagnosis means for your child's health and development, and for your family. A genetic counsellor can also explain family planning options to reduce the risk of passing on the condition to future children. Visit our page on Genetic Counselling for more information.
Living with CMD usually means life, and the future, looks different from what you had planned. However children and adults with CMD can lead fulfilling, rewarding lives just like everyone else. School, friendships, sports and recreation, arts, university, work and travel are all possible when you have CMD. The long-term outlook for people living with CMD varies and can be difficult to predict. It depends on which genes and proteins are involved but can even vary between people with exactly the same condition. Most forms of CMD are slowly progressive or may not change at all over time. Some types of CMD affect the heart or breathing muscles and can shorten lifespan due to breathing complications and heart muscle weakness that develops over time.