Processing a new diagnosis
A diagnosis of CM 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 CM.
- 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 CM have also experienced the emotional rollercoaster that comes with a diagnosis of CM and are able to understand exactly how you’re feeling. You are not alone. Connect with other people and families living with CM in The Loop Community.
How to talk to your child and others about a new diagnosis
Having a conversation with a loved one about a diagnosis of CM 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 people may not want to have this conversation, mostly centred on wanting to protect and not upset their loved ones and themselves.
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 CM 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 CM 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 CM and how it’s diagnosed
What causes CM?
CM is caused by a change (also called a mutation) in a gene (the parts of the cells that tell the cells what to do). The faulty genes cause muscles to be built incorrectly or not work properly, leading to the symptoms of CM. Different types of CM can be caused by a fault in just one gene or in multiple genes. Mutations in the same gene can cause a range of changes in the muscles.
What are the types of CM?
There are many different types of CM which are grouped into different subtypes. Subtypes are named in 2 ways:
- by the abnormal or damaged areas of the muscle cells that can be seen under a microscope, such as cores, nemaline rods or central nuclei
- by the specific genetic mutation that causes the condition
Common CM subtypes are:
- Nemaline myopathy
- Central core myopathy
- Multi mini-core myopathy
- Centronuclear myopathy
- Congenital fibre-type disproportion myopathy
How is CM diagnosed?
CM 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.
The child needs to be assessed by a Paediatric Neurologist (a doctor specialising in muscle conditions in children) who will then decide to do some or all of the following tests to to try to make a diagnosis, including:
- 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 Australian Genomics Health Alliance 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 of the muscles to look at the pattern of muscle damage for clues to the type of congenital myopathy.
- Muscle biopsy can be used to narrow down the type of congenital myopathy. 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 congenital myopathy.
The genetics of CM
The genetics of CM is very complex, with some of the subtypes able to be passed down from parents to their children by more than one method. Inheritance pattern can either be:
- Autosomal recessive – 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 CM.
- Autosomal dominant – this means only one copy of the faulty gene, inherited from either parent, is enough to cause the condition. The condition is so dominant it overrides the normal functioning copy from the other parent. On average, half the children from a parent with the faulty gene will inherit the condition.
- X-linked – Males are born with an X chromosome and a Y chromosome. Females are born with two X chromosomes. When the faulty gene occurs on the X chromosome and is passed on to an offspring:
- male offspring (sons) will develop the condition, as they only have one X chromosome
- female offspring (daughters) will not usually inherit the condition as they have two X chromosomes. The normal copy of the gene will compensate for the faulty copy. These females will then be carriers and may pass the condition on to their children.
If your child has been diagnosed with CM, 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 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 breathing muscles and can shorten lifespan due to breathing complications that develops over time. Generally, speaking unless there is severe respiratory (breathing) failure during infancy, most children with CM will live into adulthood.