SMA Type 2 – Looking after your child who has had a recent diagnosis
SMA Type 2 – Looking after your child who has had a recent diagnosis
Who this is for
This guide is for parents and carers whose child has had a recent diagnosis of Spinal Muscular Atrophy (SMA) Type 2.
In this guide
These pages tell you more about some of the practical side of caring for a child who has SMA Type 2. They combine information about the healthcare your child may need, along with tips and suggestions that have worked for other families. They are designed to be used alongside medical advice which should always come from your child’s medical team. As there is great variation in how children are individually impacted by SMA and, if they are receiving drug treatment, how they respond and develop, you may find that only some of the information is relevant for your child. The guide particularly focuses on care for a child who is able to sit but unable to stand or walk independently.
Since late 2016, the gradual worldwide introduction of drug treatments for children, young people and adults who have SMA Type 2 has seen positive outcomes for many.
In the UK, the NHS funds the two currently possible treatments for children, young people and adults who have SMA Type 2. Your child’s medical team will talk you through what is known about each one, the benefits and any risks, and with you decide on the one that is the best option for your child.
You can also read our website pages which tell you how these treatments work, the clinical trials there have been and who may be eligible for an assessment for access to the treatments – this varies slightly across the devolved nations:
Another treatment you may have heard about is Zolgensma™ (onasemnogene abeparvovec). Due to the way it works, is administered and the clinical trial evidence to date, this is currently only funded by the NHS for eligible groups of children who have SMA Type 1 and for some eligible pre-symptomatic children. You can read more about this treatment and why this is, on these pages of our website.
Whether or not your child receives a drug treatment, your child’s medical team will talk with you about every aspect of care your child will need.
Your child should receive care and support from a multidisciplinary healthcare team. The number of people in this team can feel a bit overwhelming, but they all have an important role to play. You may have contact with specialists in:
- neuromuscular conditions
- hospital or community
- occupational therapy
- breathing (respiratory) care
- speech and language therapy
- general practice and community health care
The aim of everyone involved in your child’s care is that your child will stay healthy and enjoy a good quality of life. Different members of the team will meet you regularly, both to measure and monitor changes in your child’s health and development and to offer advice and interventions at the right time. They will consider your home and family circumstances as well as your child’s medical and physical needs.
You should be given time to ask questions at every appointment with your child’s team and then jointly, with the team, decide what support and care is best for your child.
It is recommended that anyone with SMA should have the same vaccinations given to any child in the UK. The only extra vaccinations are the pneumococcal vaccine (over the age of two this should be the vaccine with wider coverage known as ‘23 valent’) and annual flu vaccination.
Children with SMA who can sit but who have difficulties standing, need specialist support for their posture and mobility. Your child should have a specialist neuromuscular physiotherapist (physio) familiar with the impact of SMA Type 2, to support them and design a personal exercise routine for your child, which may include exercises to help to:
- encourage good posture
- encourage active movement
- maintain and strengthen muscles
- maintain and further develop their range of motion
- reduce any discomfort
- stretch any tight muscles
- relieve any joints that are tight
If, due to difficulties with movement, your child experiences any pain from any tight joints (contractures), regular gentle stretching, as advised by their physio, can help to reduce this. If your child does have any pain, it’s important to talk to their clinician and physio.
Your child’s physiotherapy programme should also include active exercises. The programme may be carried out by the family or an assistant at school/ nursery once they have been trained by the physio.
Regular moderate exercise will help with your child’s fitness and energy levels. Activities like swimming and horse riding can be adapted to suit your child and are a fun way to exercise. As fatigue is also common in SMA, your child should not be pushed too hard; their specialist physio will be able to advise.
Your occupational therapist (OT) will advise you what sort of seating will give your child the best, most comfortable support so that it’s easier for them to play with toys, eat independently and join in at home and at school.
Your physio or OT will provide any equipment needed to support your child’s standing and positioning. Some children may be assessed as needing splints (sometimes called orthoses) for support. These would be made to measure specifically for your child by an orthotist, who would explain how to use them and how they can help.
Children with SMA who are able to sit and are as young as 14 months can often manage to steer a ‘Wizzybug’ or ‘Bugzi’. Using one of these ‘first wheelchairs’, with their fun practical design, means they can explore and join in with other children and members of the family. Later, depending on their motor development, they may need to use a lightweight manual wheelchair or a small, powered wheelchair which will make a big difference to joining in at nursery or school and when going out. These are all important and positive ways to encourage your child’s independence. Your child’s physio and OT will be able to advise you what will work best for your family.
To make sleeping more comfortable, your OT may suggest your child has a sleep system. This uses wedges and rolls (usually made of foam or fibre) to support their back, arms and legs in a straighter, more comfortable position while they’re sleeping. They can also give you advice about any other adaptations and equipment that will help with your child’s everyday home and school activities, such as writing, playing, washing, dressing and eating.
As your child gets older, your team will keep an eye on what impact their SMA and muscle weakness is having on how straight they can sit. Even with drug treatment, SMA can weaken the muscles which support the spine, and, without this support, the spine can be pulled by gravity and curve. When the spine starts to curve sideways into a ‘C’ or ‘S’ shape it’s called a scoliosis. When the spine bends forwards it’s called, a ‘kyphosis’. Your child will be monitored and if there are signs that this is happening, they may be provided with a spinal brace.
It is widely agreed that spinal bracing may delay progress, but not prevent scoliosis developing. Your child’s team will monitor your child carefully, based on their individual needs and situation. If your specialist physio assesses that your child needs an individually fitted spinal brace (or jacket), they will refer your child to the orthotics department where this will be custom-made. Your physio will explain when, and how often, your child should wear their brace.
If your child’s spine is curving beyond a certain point, they should be referred to a spinal consultant for monitoring of their spinal posture. If needed, surgery may be suggested and will be discussed fully with you.
Why breathing (respiratory) difficulties are common for children and adults with SMA Type 2
When we breathe in (inspiration), certain muscles act as bellows to expand our lungs and enable oxygen to be pulled in. The diaphragm – which is attached to the base of the breastbone (sternum), the lower parts of the rib cage, and the spine – contracts. This increases the length and diameter of the chest cavity and expands the lungs. The muscles between the ribs (intercostal muscles) help move the rib cage to also assist in breathing. SMA causes these intercostal muscles to be weakened, which can result in a ‘bell shaped’ chest and poor inspiration. This results in reduced lung volume. SMA doesn’t impact so much on the diaphragm itself.
When we breathe out (expiration), we get rid of waste gas (including carbon dioxide) from the lungs. This doesn’t need particularly strong muscles as it is a passive movement. However, to cough, you need strong muscles to be able to clear secretions.
Weak breathing muscles are common for children, young people and adults who have SMA Type 2. This can result in breathing problems, particularly when asleep (sometimes called sleep disordered breathing) which is a leading cause of health problems.
If children do have problems, it’s often due to having a weak cough and only being able to take in smaller breaths. Every child is affected differently, but the main problems caused by weak breathing muscles are that:
- It makes it difficult to cough and therefore clear mucous (secretions) from the lungs.
- The lungs can’t get rid of enough of the waste gas produced by breathing – which includes carbon dioxide. This is known as ‘hypoventilation’.
- It may make it difficult to take in enough oxygen while asleep.
Support from a respiratory specialist
If your child has breathing problems, their clinical team will include a specialist respiratory consultant and respiratory physio. The team understands the possible impact of SMA and will get to know how it’s affecting your child, so will be able to discuss the different appropriate options with you. You can also talk to them about any worries you have about managing your child’s breathing and what to do in an emergency.
Regular respiratory checks
Though breathing problems occur less often than for children who are unable to sit, the 2017 Standards of Care (SoC) still recommend that children should have a physical examination at least once every six months. At this appointment, children should have their breathing checked. If they can understand how, they will use a machine called a spirometer and the strength of their cough will also be measured.
If your child has poor sleep quality, headaches, or daytime sleepiness these may be symptoms of night-time breathing difficulties, in which case you would expect them to have an overnight sleep study. Sleep studies should be routine to pick up possible hypoventilation before any symptoms appear. If this is done in the hospital, small sensors are attached to your child’s face, head, arm and chest and they are monitored overnight. Since the covid-19 pandemic, more studies are done at home, though hospital versus home practice varies across the UK. If the sleep study is done at your home, your child will have a small clip on a finger, which will record information. In-hospital sleep studies are more thorough, as home studies are only able to monitor oxygen and (sometimes) carbon dioxide.
Possible options for managing breathing
If your child does have a weak cough, it’s difficult for them to clear mucous and other secretions from their lungs and it makes them more vulnerable to chest infections. There are a number of options to help manage this, which you can discuss with your child’s respiratory specialist and clinical team. Not all of them will be appropriate for your child.
Options that may be discussed include:
- Chest physiotherapy to keep your child comfortable and help clear secretions from their chest. How often children need this varies. You will be advised how often is best for your child and you may be trained and supported to do chest physiotherapy yourself.
If your child needs any equipment, you will be given training and support to use it.
- Cough assist is the name often given to a mechanical insufflator – exsufflator machine. This helps to clear secretions from your child’s lungs. Your medical team will discuss if it would be helpful for your child. It may be possible for older children to be shown how to manage to use this themselves.
Our 2021 video about Cough Assist for Younger Children may be helpful:
- A suction machine to help remove your child’s excess secretions. If this is needed, your physio or another member of the team would talk to you about why and when you should use it.
- Non-invasive ventilation (NIV), a machine with a mask to provide gentle pressure to enhance breathing and expand the chest with each breath. This can help your child get rid of carbon dioxide and take in more oxygen, making breathing easier. The mask is individually fitted for your child by a respiratory specialist. When your child’s breathing triggers the ventilator, it delivers a supported breath in. As they start to breathe out, the machine cycles into exhalation, allowing them to breathe out normally. There are a number of different products available; BiPAP is one example.
Every child is different and the timing to start NIV is based on individual assessment. Your child’s respiratory specialist will talk with you about if and when your child would benefit from starting to use NIV.
Our 2021 video about Non-Invasive Ventilation for Younger Children may be helpful:
- Medication may be prescribed by your child’s team to break down secretions (mucolytics).
- Antibiotics may need to be prescribed quickly for your child if they are at risk of, or to treat, a chest infection. Your child’s team may talk to you about whether or not they recommend antibiotics are taken regularly as a way of trying to prevent chest infections (prophylactic use).
All children can be more susceptible to the effects of poor air quality, for example cigarette smoke. Children who are exposed to second-hand smoke are more likely to contract a serious respiratory infection that requires hospitalisation. Children with SMA who have respiratory challenges are especially vulnerable.
Good nutrition is vital for the wellbeing of any child who has SMA.
Due to their muscle weakness, your child may have difficulties with chewing food and find eating tiring. If they can’t swallow safely, there will be a risk they might inhale (aspirate) food which can cause choking and chest infections. Your child might need an assessment by a Speech and Language Therapist (SALT).
Eating difficulties can mean children don’t get enough food and may become underweight. However, some children can become overweight because their muscle weakness makes it difficult to exercise. Extra weight can increase the stress on muscles, bones and joints, making positioning, physical activity and breathing even more difficult.
You may find that mealtimes take longer if your child is having difficulties chewing and swallowing food. You will be able to discuss any concerns with your clinical team at your child’s regular clinic checks. To help them gain a clearer picture, you will be asked if your child has been bringing back up what they’ve swallowed (gastroesophageal reflux), had difficulties passing their bowel motions (constipation), or been sick (vomiting).
If your child has choking or coughing episodes when feeding or eating this may be a sign that they are inhaling their food (aspirating) and should be investigated. It’s not always obvious if someone is aspirating as it can be silent. If your child has frequent colds or respiratory infections this may be a sign of silent aspiration.
Guidance for Diet
A dietician should work out what diet your child needs. SMA-specific growth charts aren’t available yet, so their advice may be based on standard growth charts for children, but your dietician will also take account of other individual measurements for your child. Your child’s diet will be adjusted if they are underweight or overweight so that they’re getting the right calories, protein, fat and carbohydrates. It will also take into account the need for the right amount of fluids and nutrients – especially calcium and Vitamin D which are needed for bone health.
Due to weakness of the muscles of the bowels it’s common for children to become constipated. This can lead to discomfort and a fullness in the stomach that reduces the movement of the diaphragm which in turn restricts breathing and coughing. A fibre-rich diet may be recommended along with extra fluids. Your child may also be given medications to help.
It’s very important generally that your child has plenty of fluids, especially if they’re unwell. You will be advised about correct amounts and how often. Your clinical team will be keen for your child to restart food during an illness, as soon as it’s safe to do so.
Making Eating Easier
If your child has had difficulties, your team will talk to you about the best positions for eating and drinking. They may also suggest which foods to avoid that are more difficult to chew and swallow.
Pureed food or a semi-solid diet can help with chewing difficulties and can reduce the length of mealtimes. Thicker liquids such as milkshakes might help avoid aspiration.
Children who struggle to feed themselves can dislike not being able to be in control and having to depend on others. Long mealtimes due to eating difficulties can also put pressure on other family members and activities. Your physio and OT will be able to suggest positioning and seating options and orthotic devices if your child needs help to eat more independently. Mobile arm supports are helpful for some children, so may be recommended by your child’s OT or physio.
If Eating Is More Difficult
If your child is unable to swallow safely and/or not gaining enough weight, your team may suggest additional ways (such as the examples mentioned below) for them to take in enough food safely. You should be given time to discuss this and ask questions about the reasons for any suggestions so that you understand the possible benefits and risks for your child.
Additional short-term options may include nutritional liquid food through a:
- Nasogastric (NG) tube – a thin flexible feeding tube passed through the nose into the stomach
- Nasojejunal (NJ) tube – through the nose into the middle part of the small intestine (the jejunum)
A longer-term option could be a:
- Gastrostomy (PEG) tube – placed in the stomach via a surgical procedure and also called a PEG – percutaneous endoscopic gastrostomy. Children who have a PEG tube to help them gain weight are usually encouraged to eat some food by mouth.
Looking After Teeth
Because of their muscle weakness it may be difficult for your child to open their mouth wide. This can cause problems with eating and with teeth cleaning and dental care. Regular dental check-ups are important, and your team can suggest ways to manage difficulties and help prevent complications.
Your child’s team should work with you to develop an emergency health plan (EHP). This records the treatment you wish your child to receive if there is an emergency or if their health deteriorates.
Although they can be difficult, these discussions are important and should be had before a child may be unwell. The team will discuss possible respiratory problems and the different ways that these can be managed.
The plan can be reviewed at any time, and you can change your mind about what intervention the EHP records that there should be.
With your permission this plan can be shared with professionals supporting your child, including ambulance services, so that everyone is aware of your wishes. You should have your own copy of your child’s EHP so that you can give it to hospital services if you’re away from your home area.
Families living in the UK may be eligible for a number of financial benefits to help towards the cost of providing the extra care their child may need. This does depend on your individual circumstances. For further information, see our Financial Support & Benefits page.
There are also a number of charities that may assist you with the cost of general household goods, specialist equipment and holidays or days out. Please contact SMA UK for more information or see the Living With SMA section of our website.
Your child may be able to use a standard car seat; ask your child’s physio or OT for their advice. If it is too upright for them, or if they’re uncomfortable in their car seat, talk to your physio or OT about any suitable alternatives that provide recline options and enough support. A small neck support and additional head support may also be useful.
Your physio or OT may refer you to a Regional Driving Assessment Centre (RDAC) which will work closely with a child’s therapist to offer advice on car seats. You can find details of this service and where the centres are on the RDAC website.
Some children may need equipment when they travel and / or some may need a carer beside them to monitor how they are. Your physio, OT and respiratory team are the people to talk to about how to meet your child’s individual needs. If travel is challenging for you and your child, ask your clinical team if it’s possible to organise access to hospital transport to get to and from appointments.
If, over time, you find you need a wheelchair accessible vehicle (WAV), this can potentially be leased through the Motability Scheme if a child is over 3 years old and receives the enhanced (higher) rate mobility component of Disability Living Allowance (DLA). If your child is under 3 years, has complex needs and meets eligibility criteria, the Family Fund Mobility Support scheme aims to give access to a lease car tailored to a child and family’s individual mobility requirements. Some parents purchase their own vehicle. Others secure their child and wheelchair in an accessible taxi.
The Blue Badge scheme is run by local authorities. This entitles people with severe mobility problems to parking concessions. Although the minimum age for Blue Badge applications is 3 years, in certain circumstances it’s possible to apply for children under 3 years old with medical conditions which require them to be accompanied by bulky equipment, or if they need to remain near their vehicle in order to access treatment. To find out more about these special circumstances and how to apply for a Blue Badge visit the GOV.UK website.
If your child can’t use a car seat for medical reasons, you can contact your GP for a certificate which will explain why – this is a ‘certificate of exemption from compulsory seatbelt wearing’. You will need to carry this document at all times in your car. For more information on this, visit: Seatbelts: the law on the GOV.UK website.
Though you may feel some relief that you now have a diagnosis, you may well also be feeling shock, disbelief, confusion, anger and sadness. You may find it difficult to take everything or anything in.
Everyone’s different but it’s important that you and your family have access to emotional support and plenty of time to talk and ask questions. This can be with members of your child’s clinical team, your local GP, health visitor, social worker, psychologist or a counsellor. Family and friends, spiritual leaders, support groups, or online communities can also be helpful to talk to.
In some areas, your child and family may be able to have support from your local children’s hospice services. They may offer short breaks at your home or at the hospice. Some local authorities also have residential short breaks provision for children with disabilities. Ask your GP, community nurse, health visitor or social worker for more information.
Over time, so that your child can participate fully in activities, you may need further information and support on mobility, education, equipment and sources of funding. You can find out more by talking to your child’s healthcare team, SMA UK’s Support and Outreach Team, and the other people and organisations listed in the ‘Support and Resources’ tab below.
The International Standards of Care for Spinal Muscular Atrophy (2017) and the guide for families can be read / downloaded from here.
Phone: 01789 267 520
We provide a free Support & Outreach service for families by email, phone, text, zoom and occasional home-visiting. Our experienced team offer personalised support and information and are available to answer questions and talk things through. Though we don’t give medical advice, we can discuss with you the support you and your family can access.
If you’re wondering about an aspect of life with SMA, we hope the Living With SMA area of our website will be a helpful starting point, giving you useful information and ideas. It builds on knowledge and advice from the SMA Community and SMA UK’s Support Team, and covers a whole host of topics, including: health and wellbeing, equipment, homes, nursery and school, transport, leisure, holidays, financial, and emotional and social support.
You may also find some of our podcasts and webinars interesting – there are always more in the pipeline – and there may be events on offer. Find out more on these pages. You can keep up to date about events, new research developments and much more by signing up for our monthly E-news.
Any family affected by SMA, living in the UK, can request a free copy of the following book:
- Smasheroo – written by the mother of a child who has SMA, with illustrations by Mary Hall, this uplifting story highlights that everyone is different and everyone is special in their own way.
You will find more information about the possible drug treatments here:
This website section tells you about other research and treatment developments.
The SMA Community – Online Groups
Online groups and social media provide opportunities to connect with other families and potentially hear about others’ experiences and get tips about things like toys, clothing and some equipment. Every child is different and medical advice must always come from your child’s clinical team.
You can find some ways to connect with others here.
Muscular Dystrophy UK
Phone: 0800 652 6352
MDUK provide information, support, advocacy services and grants towards specialist equipment for people affected by a range of neuromuscular conditions.
Contact for Families with Disabled Children
Phone: 0808 808 3555
Contact provide information and support to families who have a child with a disability, including information on benefits and grants.
Phone: ‘Together for Short Lives’ on 0808 8088 100
Located throughout the UK, these offer a wide range of services and support to children and families; some also offer short breaks. What support is possible does though vary across the country. Details are available from the Together for Short Lives website.
Links last checked: August 2023
The information provided in this guide, on our website, and through links to other websites, is designed to complement not be a substitute for clinical and professional care and advice.
For more detail about how we produce our information, please see these pages.
If you have any feedback about this information, please do let us know at: email@example.com