For family and friends
This information is for you to share with family and friends to help explain SMA. Parents of children with SMA have provided suggestions for your family and friends on how they can support you through these early moments of diagnosis.
What is going on?
Someone you care about has just been told that their baby has, or is very likely to have, spinal muscular atrophy (SMA). This news is usually unexpected and can be frightening.
SMA is a genetic condition that affects the nerves that help muscles move. Many babies who screen positive for SMA look completely well at first. In Australia and New Zealand, newborn screening and new treatments mean that SMA can often be treated before symptoms appear.
What This Does – and Does Not – Mean
• SMA is serious, but there are now treatments that were not available in the past.
• Information you find online may be old, or may describe children who did not receive early treatment.
• No one caused SMA by anything they did or did not do during pregnancy or birth. It is nobody’s fault.
How families and friends can be supportive
• Listen first. Parents may need to talk, or they may need quiet. Follow their lead.
• Ask what they need: help with childcare for siblings, meals, transport to appointments, or company.
• Respect their choices about treatment and about who they tell, and when.
Things to Avoid
• Avoid sending links from random internet searches, especially if they are frightening or out of date.
• Avoid saying “I know how you feel” unless you have been through something very similar – instead try, “I can’t imagine how hard this is, but I’m here for you.”
• Avoid making promises such as “everything will be fine” or, on the other extreme, focusing only on worst-case scenarios.
• Try not to ask for detailed explanations when parents are exhausted; you can offer to read the information they share with you instead.
Knowing they are not alone helps parents. Being present, willing to listen and your practical help can make a real difference.
Genetics and carrier screening for your family
SMA is usually inherited. Parents of a child with SMA are often “carriers”, which means they each carry one copy of the SMA gene change without having symptoms themselves.
Relatives may also be carriers without knowing it. In Australia, carrier screening for conditions like SMA is increasingly available. If you are a close relative and are thinking about having children in the future, you may wish to talk to your GP or a genetic counsellor about whether carrier screening is right for you.
A frequently asked question from parents is “Why now, we had all the tests during pregnancy?”
During pregnancy a number of tests are carried out routinely, e.g. nuchal translucency, NIPT (non invasive prenatal test). These test for some important inherited conditions, like Down Syndrome or other chromosomal differences, but not all genes (e.g. SMA).
Reproductive carrier screening is available (before or in early pregnancy) to find out if you are at risk of having a baby with SMA. This involves testing both parents and based on results, their risk can be high or low. For couples with a high risk of having a baby with SMA, this information can help them make reproductive decisions based on their preferences. Not everyone has carrier screening for SMA and rarely, people with a low risk can be carriers. These are additional reasons why it is important to screen newborns for SMA.