Processing a new diagnosis
A diagnosis of SMA 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 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 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. 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 SMA 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 SMA. Visit our page on our 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 SMA have also experienced the emotional rollercoaster that comes with a diagnosis of SMA and are able to understand exactly how you’re feeling. You are not alone. Connect with other people and families living with SMA in The Loop Community on our Forum.
Understanding SMA and How it’s Diagnosed
About SMA
Spinal Muscular Atrophy (SMA) is a neuromuscular condition that can affect infants, children and adults. It affects nerve cells called motor neurons that are found in the spinal cord and send messages from your brain to your muscles. In SMA the motor neurons do not work properly, meaning your muscles don’t receive the messages from your brain. This causes muscles to gradually become weak and waste away over time (atrophy). It is a genetic condition, meaning it is inherited through genes from your parents, and affects both males and females.
SMA affects muscles throughout the body, including muscles that control movement of your arms and legs, the muscles for feeding and swallowing, and the muscles involved in breathing and coughing. In recent years there have been promising treatments developing for SMA.
How to talk to your child or others about a new diagnosis
Having a conversation with a loved one about a diagnosis of SMA, 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 SMA 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 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, just ask 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 do.
What causes SMA?
The most common form of SMA is caused by a change (also called a mutation) in a gene (the parts of a cell that tell the cell what to do). The gene involved in SMA is called survival motor neuron 1 (SMN1 gene). This gene usually produces a protein called survival of motor neuron (SMN). This protein is needed to maintain healthy functional motor neurons (nerve cells in the spinal cord that send signals to muscles throughout the body and control their movement). The genetic mutation in SMA means the entire gene is missing or some of the code of the gene is changed, making it inactive. If enough SMN protein is not made, motor neurons start to break down and can’t send messages to the muscles to make them move. Over time, the muscles become weaker and smaller due to inactivity.
The reason that some people are affected much more severely by the SMN1 gene change than others is mainly due to the presence of another gene called SMN2.
Both SMN1 and SMN2 are located on chromosome 5. SMN2 also produces a small amount of SMN protein and can help compensate for the faulty SMN1 gene. People can have multiple copies of this SMN2 gene. Having more than three copies of the SMN2 genes can result in enough SMN protein being produced, reducing the severity of the disease. As a general rule:
- People with the most severe type of SMA (type 1) have one or two copies of SMN2
- Most people with SMA type 2 have three copies of SMN2
- People with least severe types of SMA (types 3 and 4) have four or more copies of SMN2.
There are other forms of SMA that are caused by mutations in in different genes. These other types of SMA vary greatly in their symptoms and severity.
What are the types of SMA?
There are several types of SMA, each with differences in age of onset, symptoms, and how quickly it progresses:
SMA linked to the SMN1 gene
There are 4 types of SMA that all result from mutations to the SMN1 gene, causing a deficiency of the SMN protein:
- Type 1 SMA – This is the most severe form of SMA, with symptoms present at birth or before the age of 6 months. Babies with this type of SMA never learn to sit independently and often have difficulty swallowing and sucking.
- Type 2 SMA – Symptoms of this type of SMA present between 6 and 18 months, before the child can stand or walk. These infants typically gain the ability to sit but not to stand.
- Type 3 SMA – Symptoms appear after the age of 18 months into the teenage years. Most children with this type of SMA can walk but may develop problems with balance and walking as they get older.
- Type 4 SMA – This type of SMA causes symptoms in adulthood adults, usually after the age of 30.
SMA not linked to the SMN1 gene
Other forms of SMA caused by genes other than SMN1 include:
- SMA with respiratory distress (SMARD) - In this severe form of SMA, infants have respiratory distress (breathing difficulties) in addition to muscle weakness.
- Distal SMA - This form of SMA affects the hand and feet muscles, with varying symptoms and severity depending on the gene involved.
How is SMA diagnosed?
If SMA is suspected a doctor will perform a physical examination and gather information about symptoms. A blood test (genetic testing) will check for the presence or absence of the SMN1 gene to help diagnosis. The person will need to be assessed by a Neurologist (a doctor specialising in muscle conditions). If genetic testing confirms the diagnosis then treatment options can be discussed. Further information about genetic testing can be found on the Healthdirect website.
The genetics of SMA
Everybody has two copies of the SMN1 gene – one inherited from each parent. People with SMA most commonly have a change or mutation in both copies of the SMN1 gene that they have inherited. This is what is called an 'autosomal recessive' inheritance.
The parents of a person with SMA each carry one copy of the faulty SMN1 gene and are known as ‘carriers’. They 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 SMA.
To have a child affected by SMA, both parents must pass on a faulty SMN1 gene to their child. If both parents are carriers, the likelihood of a child inheriting the condition is 25 per cent, or one in four pregnancies. In Australia about one in every 35 people is a carrier of the faulty gene that causes SMA.
It is possible to have a test to see if you are a carrier of SMA. If you are a carrier you won’t have any signs or symptoms of SMA. However if your partner is also a carrier there is a 1 in 4 chance that you could have a child with SMA.
In rare cases, SMA can be inherited from a faulty gene from just one parent.
Genetic counselling
If you or your child have been diagnosed with SMA, or if it runs in your family, it may be helpful to speak to a genetic counsellor.
Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand SMA and what causes it, how it is inherited, and what a diagnosis means for your child's health and development, and for your family. Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.
If SMA runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family – to find out your risk of passing the condition on to your child, or to arrange for prenatal tests.
Visit our page on Genetic Counselling for more information.
Long-term outlook
Due to medical and scientific advances, quality of life is improving for people with SMA and life expectancy is increasing.
Living with SMA usually means life, and the future, looks different from what you had planned. However many children and adults with SMA can lead fulfilling, rewarding lives just like everyone else. School, friendships, sports and recreation, arts, university, work, having a family and travel are all possible for many people with SMA although some may need significant medical support.
For more information about living with SMA, overcoming some of the day-to-day challenges and where to get the right support, visit:
