Processing a new diagnosis
A diagnosis of DM can be a huge shock for yourself, parents, siblings, extended family members and friends. It is normal to feel an overwhelming mix of grief, confusion, anxiety, loneliness and helplessness as your life, and 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 number of 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. Visit our page on Psychology for more information.
- A counsellor is a trained professional who can help you talk about and work through problems. Visit our page on Counselling for more information.
- A social worker can provide information and support to people experiencing a range of issues including family problems, anxiety, depression, crisis and trauma. Visit our page on Social Work for more information.
- A genetic counsellor can help you understand how DM 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. Visit our page on Genetic Counselling for more information.
- Your state or territory neuromuscular organisation can provide support, advice and information about living with DM. Visit our page on state and territory neuromuscular organisations for more information.
- 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. Visit our page on Wellbeing for more information.
- Other people and families living with DM have also experienced the emotional rollercoaster that comes with a diagnosis of DM and are able to understand exactly how you’re feeling. You are not alone. Connect with other people and families living with DM in The Loop Community on our Forum.
How to talk to your child and others about a new diagnosis
Having a conversation with a loved one about a diagnosis of DM 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 their loved ones and themselves.
But avoiding the topic is not helpful. People may have noticed differences and changes that have occurred and/or heard the condition being discussed.
So it is crucial that you have a role in your loved one learning about their/your 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. If you are the person with DM it will provide you with support and someone to talk to. 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 they may have heard or read
- Show them that you have faith in their ability to handle difficult conversations.
There is no right time to start this conversation. Research suggests the earlier you talk to your loved ones about your/their condition, 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’ts:
- Do be positive but also realistic.
- Do reassure them that no one has done anything wrong and this is not their fault.
- Do tell them they/you will do many wonderful things in their/your life – they/you 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.
If you are having difficulty starting the conversation, try asking a couple of questions such as ‘How are you feeling today?’ or ‘Do you know why you/they are having difficulty with your/their muscles?’
Remember, it’s okay to be upset during the conversation but try to avoid breaking down as this will only cause greater distress. And if speaking with a child, remember children are resilient and they generally handle information of this nature far better than adults.
Understanding DM and how it’s diagnosed
Myotonic Dystrophy (DM), sometimes called Steinert’s Disease, is the most common form of adult muscular dystrophy (a group of diseases that cause your muscles to become progressively weaker). A key feature of DM is myotonia, difficulty relaxing a tightened muscle. DM also causes muscle weakness and a number of symptoms that affect other parts of the body.
The symptoms of DM may appear at any age, from birth to late adulthood and affects both males and females. There are 2 different types - DM1 or type 1 and the rarer DM2 or type 2. Both are genetic conditions but affect different genes.
Some babies are born with a severe form of the condition called congenital myotonic dystrophy.
What causes DM?
DM is caused by a specific change or fault (also called a mutation) in a gene (the parts of our cells that tell our cells what to do). The two forms of DM are caused by two different genes:
- DM1 (type1): a gene on chromosome 19 called DMPK
- DM2 (type2): a gene on chromosome 3 called ZNF9.
Although different genes are affected, both types of DM cause problems with messages being sent to the muscles, resulting in muscle weakness.
What are the types of DM?
DM1 is the most common form and occurs in about 1 in 8000 people worldwide. There are 3 categories of DM1:
- Congenital – a severe, early childhood form of DM1. Congenital means ‘from birth’ and symptoms are usually present at birth or shortly after. Most babies born with congenital DM will have a mother with DM type 1, although the mother’s symptoms may be so mild she may not be aware of it.
- Childhood onset – typically presents before the age of 10. It is characterised by symptoms such as problems with learning, concentration and motivation, more than physical symptoms. Muscle weakness will usually develop to varying degrees as the child matures.
- Adult onset - the most common form of DM. Weakness begins in the muscles of the face, neck, fingers and ankles. The weakness is slowly progressive and will eventually include other muscles.
DM2 is generally a less common, milder form of the condition. Onset is usually between the ages of 30 to 60 years and it rarely begins in childhood. DM2 usually begins in the proximal muscles (those closest to the centre of the body) particularly around the hips. However, it often does include some finger weakness.
It is difficult to know exactly how many people are affected by DM2 as the symptoms are often very mild and many people do not seek treatment.
How is DM diagnosed?
Obtaining a diagnosis of DM can unfortunately take some time. Many doctors may be unfamiliar with the condition as it a rare disease and may focus on more common causes for your symptoms (eg. testing your eyes if you have problems with your vision).
The tests that your doctor may use to assist with the diagnosis of DM include:
- Physical examination – this may show a pattern of muscle wasting and weakness, as well as the presence of myotonia.
- Genetic blood test – this is the most precise test for dm. This type of blood test looks for the specific genetic changes that cause DM1 or DM2. Further information about genetic testing can be found on the Healthdirect website.
- Electromyogram (EMG) – this test involves inserting small needles into the muscles to measure their electrical activity. An EMG will detect the presence of myotonia in a high portion of people with DM.
People with DM1 can have quite a distinctive appearance due to weakness of their facial muscles and may be an early indicator that a person has DM. The facial muscle weakness can lead to people appearing to have a long and expressionless face.
The genetics of DM
DM is inherited in an autosomal dominant pattern. This means it takes only one DM gene inherited from either parent to cause the condition in their child. On average, half the children from a parent with the DM gene will have the condition.
There are very few cases of DM occurring spontaneously, meaning it is usually inherited from a parent with the condition.
Both males and females are equally likely to have the condition.
A molecule known as RNA (ribonucleic acid) is the key to causing DM1.
To understand DM1, we need to know how our cells work to make proteins (our body’s building blocks):
- In the core of the cell is the nucleus. The nucleus contains our genes, which are made up of lengths of DNA (deoxyribonucleic acid).
- When a cell needs to make a certain protein, it ‘switches on’ the corresponding gene, or the portion of DNA that is responsible for that protein.
- An exact copy of that portion of DNA is made, called RNA. RNA acts as a messenger, travelling out of the nucleus and instructing the rest of the cell to make the protein.
In DM1, the DMPK gene is abnormally long. This is caused by extra repeats of the DNA building blocks (cytosine, thymine and guanin, also abbreviated as CTG) in the DMPK gene. A normal DMPK gene has fewer than 35 repeats of CTG. In DM1, there can be hundreds or even thousands of CTG repeats in the DMPK gene. When this gene is ‘switched on’, the extra CTG repeats are also copied into RNA. The abnormally long RNA is now an unusual hairpin shape and get stuck in the nucleus. It then hooks onto certain proteins inside the nucleus, trapping them in clumps. The proteins held in these clumps are then unable to perform their normal functions.
Generally, the more CTG repeats within the DMPK gene a person has, the younger they are when symptoms are noticed and the more severe the condition will be.
The number of CTG repeats in the faulty gene tend to increase in each generation of a family. This leads to increasing severity of the condition in each generation.
Type 2 is caused by extra pieces of repeated DNA in the ZNF9 gene (also known as the CNBP gene). A four letter DNA code (CCTG) is repeated many hundreds of times, rather than less than 30 times in healthy people. This mutation leads to faulty RNA being produced and getting stuck in the cell, meaning the cells do not function properly.
Unlike DM1 the repeats in the faulty gene do not increase with each generation of the condition.
DM1 and DM2 are hereditary conditions that become increasingly severe in each generation. Therefore, relatives of people with DM can have genetic testing using a blood test to find out if they are at risk of developing the condition and/or passing it on to their children. This testing should be undertaken with genetic counselling to ensure a full understanding of a diagnosis. Genetic counselling is best commenced before testing to ensure people understand the impact of this decision, particularly if the test is positive. In some situations, such as obtaining travel and health insurance, you will be required to disclose this information.
Genetic testing of healthy young children is not recommended.
The course of DM varies widely between people who have the condition and even within families with the same condition. For the most part, muscles weakness and wasting progresses slowly. The majority of people with DM will maintain their ability to walk independently into late adulthood.
Generally, the older a person is when they first notice symptoms, the slower the condition progresses and usually causes less serious symptoms.
The condition tends to be more severe and have an earlier age of onset with each generation in a family. So, a grandparent might experience their first mild symptom at the age of 60, while their children may notice symptoms at 30 – 40 years of age, and grandchildren may be born with congenital DM.
Some babies born with congenital myotonic dystrophy may ‘outgrow’ some of the effects of the condition during childhood and their symptoms can improve. However all children with congenital DM will develop the adult form of DM when they reach adolescence or adulthood.
While no treatment exists that slows the progression of DM, management of its symptoms can greatly improve quality of life. See the Symptoms section below for more information.
For more information about living with DM, overcoming some of the day-to-day challenges and where to get the right support, visit: