SMA in reality: why we need early recognition and diagnosisKnowledge
Achieving early recognition and diagnosis are core aims of the new paediatric SMA pathway, because the earlier a baby or child has SMA detected, the earlier they can receive the treatment necessary to halt their muscle deterioration. For babies diagnosed with SMA type 1, even speeding diagnosis by a few days could make a difference to their health outcomes.
This urgency to recognise, refer, diagnose and treat infants with SMA relies on an increased awareness of SMA, the signs to look for in babies and children, and the knowledge that the treatment available can transform that child's life - and the life of their family.
Figure 1: 'Diagnosis' overview page taken from the paediatric SMA pathway from red flags through to immediate referrals post -diagnosis
Early recognition: every day counts
We talk about the 'red flags' to look for in babies with SMA in 'professional awareness', and the animation (below) provides three different scenarios where fictitious babies present with SMA in different ways.
The healthcare professionals most likely to interact with a baby with SMA are either primary or community care professionals like GPs and health visitors, or those in the neonatal intensive care unit or pediatric wards if a baby is admitted with respiratory problems or a chest infection.
Portia talks about her early routine appointments for Ezra and considers why Ezra's own 'red flags' were not picked up on sooner. Sharing her thoughts that GPs and health visitors often take their cues from the mother - which she is clear is usually a positive thing - it can nevertheless cause a problem.
'Your baby becomes the 'norm' to you, don't they? There were a few things [that might have been warning signs]. I had always had quite a fierce let-down reflex feeding my other three, meaning they often choked a bit on my milk initially, so when Ezra did it, I thought that was normal.
Then there was his breathing. I didn't notice that he only breathed with his tummy, not his chest or diaphragm, until he was lying next to another baby. The mother asked me why he was breathing oddly.'
Whilst parents are often the first to notice things that are 'wrong', it is important that healthcare professionals bear in mind both that SMA red flags are unlikely to be on a parent's radar, and that parents often do see their child as 'normal for them'. Ezra wasn't as wriggly as Portia's other children, nor as vocal in crying. 'I thought he was just a really 'good', placid baby', Portia adds.
Any incidence of muscle floppiness and weakness needs to immediately trigger consideration of SMA type 1, and chest infections or feeding difficulties need to prompt a check for floppiness or muscle weakness in turn.
When Ezra caught a cold at five weeks old, he was hospitalised, and spent several days on a CPAP machine. 'He started losing abilities after that - he lost his grasp, arm movement, head control.'
The health visitors Portia saw afterwards assumed Ezra's subsequent weakness was a result of his illness and that he needed time to regain his strength. He even passed his newborn physical examination (NIPE) with the GP, who also put his reduced abilities down to his recent hospital stay.
Whilst illness in an infant may well cause tiredness and take time to recover from, any possible concern for SMA must trigger a referral to specialist care - every day counts from that moment, and every day saved means that child will retain more function.
'Giving a good diagnosis'
We know that a good diagnosis can make a huge difference to someone's onward journey with that condition, with some people even experiencing post-traumatic stress as a result of their diagnoses. Whilst the diagnosis of SMA may not impact the baby itself, the parents or carers of that child, and their wider family, will all be impacted greatly, both by the diagnosis and the changes to the life that follows it.
Figure 2: The diagnosis overview from first signs detected to the point of diagnosis
A good diagnosis for SMA means that the family feels they understand the condition and are equipped to manage it well. Giving a 'good diagnosis' is a difficult thing to do, in any area of specialism. We know that often people are unable to hear fully, or take in the details being shared with them - which is why clear communication in various forms is vital.
Understanding the bigger picture
At the point of diagnosis, people receiving this information are often anxious or fearful, and may have had several days or weeks of concerning or stressful experiences beforehand.
With an SMA diagnosis, we need to consider that often the parents or carers may have only recently experienced the challenges of pregnancy and birth, the difficulties of sleep deprivation that come with a young infant, and the emotional rollercoaster which becoming a new parent, or caring for a new baby alongside their siblings entails.
The need to protect one's baby and keep them safe from harm is also being challenged, as is the fact that this diagnosis not only impacts their baby, but will change their entire lives - and the lives of any other children in their family.
There is no one tried-and-tested way to deliver a diagnosis of SMA to a family, but bearing in mind this broader picture may help greatly in sharing information empathetically, with patience and understanding, as far as possible.
In the bid to ensure that parents are equipped with the information and physical abilities they need to ensure their baby's safety, there may be a tendency to overlook the emotional impact of that diagnosis. Portia's description of how she felt at that moment of diagnosis, even four years later, sheds a great deal of light on the emotional and mental impact of the diagnosis.
'They started talking about SMA. There was no formal, 'He has…'. They just immediately began showing us how to do respiratory physiotherapy, how to use a suction machine. I couldn't process any of it. I couldn't bring myself to do it. It was all medical words. No-one said, 'This is how your life will change'.'
An important element of the SMA diagnosis is the treatment available. Until recent years, there was very little support to be offered other than palliative care, but for many infants and children, access to specialist medication can offer families hope for their child's future.
(Access to specialist medication will be looked at in more depth in the next piece in this series, released on 25th May.)
Supporting emotional needs
The final aspect of a 'good diagnosis' is the immediate follow-up, which includes discussions about medical and therapeutic treatment and management, and practical support such as a care package, equipment needs and adaptations.
It also includes emotional and mental support, which in the case of SMA may include referrals for parents, carers, or other family members to counselling or talking therapies. It may even require signposting people back to their GP for broader personal or family support for emotional or mental health needs, depending on the circumstances.
Figure 3: The diagnosis overview immediately after diagnosis itself
Portia talks about the impact of Ezra's diagnosis on the whole family. She mentioned the changes to the house, the equipment and processes, the changes to routine, giving up her job as a primary school teacher, sharing the family home with care workers to help support Ezra - all which take time to adjust to and accept.
Photograph: Ezra's ground floor bedroom at home: 'No-one tells you, 'this is how your life will change'.'
The moments that had the biggest emotional impact on Portia were those where her ability to mother Ezra were taken away. These were when she could no longer breastfeed him, and the first time she had a carer in the house to look after Ezra overnight. 'Having someone else look after your child instead of you… I felt like I'd failed. I had to keep thinking, 'I do need this help'.'
For Portia, breastfeeding her children was an important part of her mothering role, and she practiced extended breastfeeding with all three of her other children. She was breastfeeding Ezra too, by expressing her milk. After two doses of Nusinersen, Ezra had choked on a puree and it was decided that he needed to be fitted for a PEG feeding tube.
'I went from breastfeeding to nil by mouth instantly. I never imagined stopping feeding that way. My milk dried up and I beat myself up about it. No-one thought to ask how I felt about it.'
Portia's experience and memories help show how the non-medical implications of SMA care, treatment and management can have a big impact on family members, and reinforce why referral to counselling or other forms of emotional support are such an essential part of giving a good diagnosis.