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Your GP or local hospital consultant can refer your child to a specialist neuromuscular centre:

This user-friendly guide summarises the key recommendations for care of those who have 5q SMA (Types 1, 2, 3 and 4) as outlined in two scientific articles. These were completed in November 2017 by a committee of international healthcare and patient experts.

It was agreed that the key to the most appropriate intervention and care depended on the person’s ‘functional ability’:

  • whether they could sit, stand or walk
  • whether their breathing was affected by their SMA
  • what other daily living activities they could manage.

Since publication, however, new drug treatments have brought rapid change and many unknowns. Clinicians nationally and internationally also constantly review and discuss best care and management practice. This does mean that some recommendations may now be changing. Though the SoC remain a useful reference point for you and your family, care and management will be very individualised based on your clinical team’s assessment and a full discussion of this with you and your family.

For the complete UK Guide pdf version, please click here.

Some translations are available – see the bottom of this page.

See here for more information.

SMA can affect the muscles involved in breathing. How much – and what effect this has day-to-day is very individual. This section talks about what’s covered in the International Standards of Care (SoC): Chapter 6, Breathing (Respiratory and Pulmonary Care).

Since publication, new drug treatments have brought rapid change and many unknowns. Clinicians nationally and internationally also constantly review and discuss best care and management practice. This does mean that some recommendations about respiratory care may now be changing. Though the SoC remain a useful reference point, your care and the management of your SMA will be very individualised based on an assessment by your respiratory team and a full discussion with you and your family.


How and why SMA can impact on breathing

The muscle weakness caused by SMA can affect the muscles for breathing. Breathing (or respiratory) problems may be common for teenagers who are ‘non-sitters’ (usually diagnosed with SMA Type 1) and teenagers who are ‘sitters’, but they’re rare for teenagers who are ‘walkers’.

So, what happens and why?

When we breathe in our inspiratory muscles act as bellows to expand our lungs, so that oxygen can be pulled in. The most important inspiratory muscle is the diaphragm – a dome-shaped muscle below the lungs. SMA causes the inspiratory muscles to be weakened and results in a decreased lung volume.

Breathing out the waste gas (carbon dioxide) from the lungs is known as expiration. This doesn’t need particularly strong muscles, but coughing does.

If you do have problems, it’s often due to having a weak cough and only being able to take in smaller breaths. Everyone’s affected differently, but the main problems caused by weak breathing muscles are that:

  • It makes it difficult for you to cough and therefore clear mucous (secretions) from your lungs.
  • Your lungs can’t get rid of enough of the waste gas produced by breathing – which includes carbon dioxide. When the levels of carbon dioxide in your blood are increased, this is known as ‘hypoventilation’.
  • It may make it difficult for you to take in enough oxygen while you’re asleep.

Who needs regular checks on their breathing and what do these involve?

The International Standards of Care for SMA (SoC) recommend that children and teenagers who are ‘sitters’ or ‘non-sitters’ should have a physical examination to check their breathing at least once every six months. So, if that includes you, you should be having these already and will know that at these appointments you use a machine called a spirometer to measure the strength of your cough.

If you’re not sleeping well at night and/ or have headaches, or if you’re sleepy during the day, this could mean you’re having difficulties breathing at night-time, in which case you should have an overnight sleep study. This may be at home with a small clip on your finger (to measure and record levels of oxygen in your blood) or in hospital with small sensors attached to your face, head, arm and chest which monitor you overnight, usually along with a blood test. You may already have had a sleep study – but if things have changed, you may want to talk to a member of your team about whether it might be helpful for you to have another.

All these tests help the doctors, you and your parents decide on the best options for managing your day-to-day breathing.

If you already attend appointments regularly with a respiratory specialist, you hopefully know about this and feel comfortable asking them questions about anything you don’t understand or anything you’re worried about. If you don’t have a respiratory specialist but you’re worried about your breathing, talk to your parents or another member of your healthcare team to discuss if it would be a good idea for you to be referred to a respiratory specialist.


What can help with managing breathing?

There are different ways to help manage breathing problems, depending on what your team assess is right for you.

If you have a weak cough, you’ll know how difficult it is for you to clear mucous and other secretions from your lungs and that it makes you more vulnerable to chest infections. Your parents and doctors and you will work out together what the best ways are for you to manage this. Even if your breathing is usually fine, you may struggle to deal with chest infections compared to other teenagers you know – and you may need additional ways to help you get over them.

Options that you may already use or that your team may discuss with you include:

  • Chest physiotherapy to keep you comfortable and help clear secretions from your chest. Your parents and anyone else who helps care for you would be likely to be trained to do this and you’ll all have been advised how often is best for you.
  • Cough assist is the name often given to a mechanical insufflator – exsufflator machine. This helps to clear secretions from your lungs. If it’s something that would help you, you may be taught how to use it yourself – and your parents and anyone else who helps care for you would also be trained how and when to use it too.

Martyn Sibley who has SMA chats to Professor Anita Simonds (Honorary Consultant in Respiratory & Sleep Medicine) and Dr Michelle Chatwin (Consultant Physiotherapist) from Royal Brompton & Harefield NHS Foundation Trust about the basics of cough assist and what it’s like to use.


Recorded: November 2020

 

  • suction machine helps remove any excess secretions. If you need this, your physio or another member of your healthcare team would talk to you about why and when you should use it and give your parents and anyone who cares for you training.
  • Non-invasive ventilation (NIV), is a machine with a mask providing gentle pressure to breathe against, which helps to keep your lungs inflated longer. This can help you get rid of carbon dioxide and to take in more oxygen, making breathing easier. The mask is individually fitted for you by a respiratory specialist. When your breathing triggers the ventilator, it delivers a supported breath in. As you start to breathe out, the machine cycles into exhalation, allowing you to breathe out normally. BiPAP is one example of an NIV machine.
  • Medication (called mucolytics) can be used to break down secretions, but they’re not recommended for long term use.
  • Antibiotics aren’t recommended by the SoC as a way of trying to prevent chest infections (prophylactic use) but the medical team will have a ‘low warning’ threshold for when you should start them.

SMA affects each person differently and its impact varies greatly. This section takes a look at the International Standards of Care (SoC): Chapter 5, Nutrition Growth and Bone Health
 
Since publication, new drug treatments have brought rapid change and many unknowns. Clinicians nationally and internationally also constantly review and discuss best care and management practice. This does mean that some recommendations about eating and diet may now be changing. Though the SoC remain a useful reference point, your care and the management of your SMA will be very individualised based on an assessment by your clinical team and a full discussion with you and your family.


The Impact SMA Can Have On Your Ability To Eat And Process Food

SMA can cause weakness in swallowing muscles and affect how easily food moves through the digestive system. Eating difficulties can either mean someone doesn’t get enough food and becomes underweight or, because their muscle weakness makes it difficult to exercise, they can become overweight. Extra weight can increase the stress on muscles, bones and joints, making physical activity and breathing even more difficult.

These difficulties are more common for people who are non-sitters or sitters but not so common for walkers. They don’t all happen to everyone – as always with SMA, everyone is different .

Due to weak muscles caused by their SMA, some people have problems with reflux (which can feel like an uncomfortable burning sensation in their chest or throat); some people can be sick after eating; some people can have difficulty going for a poo (become constipated). Constipation can lead to feeling uncomfortable and a fullness in the stomach that reduces the movement of the diaphragm (the dome-shaped muscle that’s below the lungs and is important for breathing in) which in turn can make it more difficult to breathe and cough. Some people may also have problems with their ability to break down foods to produce energy (their metabolism). They may have high or low blood sugar and / or problems with breaking down fat.

If you’re a ‘sitter’ or ‘non sitter’ you may have difficulty swallowing safely. If you do, this can feel frightening and may mean you’re at risk of ‘breathing in’ food or drink (aspiration) which can make you choke and possibly cause a chest infection.


What can be done to help?

Regular appointments with a dietician

If you’re a ‘sitter’ or a ‘non-sitter’, you should be seeing a dietitian regularly to have your growth, weight and diet checked, so that you can discuss and follow advice to keep you healthy.

If you’re a ‘walker’, you only need to see a dietitian if you’re having weight-related issues, for example if you’re putting on a lot of weight, or not putting on enough weight. A dietitian can explain and work out with you a healthy and comfortable weight for you, and advise on and support you with how to reach and maintain this.

Making eating easier

If you’ve had difficulties, your medical team will have talked to you about the best positions for eating and drinking. They may also have suggested foods to avoid because they’re more difficult to chew and swallow and / or puréed food or a semi-solid diet to help with chewing difficulties and reduce the length of mealtimes. Eating can be hard work and take a lot of energy. When drinking, it might be recommended you have thicker liquids, such as milkshakes, to help you avoid aspiration.

Some people have found the following equipment helpful:

  • Valved straws which reduce the effort of drinking by keeping the liquid at the top of the straw
  • Elbow supports: The Neater mobile arm supports enables people to use their own movements to feed themselves. Other companies make similar aids.

A swallow test and other way of taking in food

If you’ve experienced difficulties with swallowing, you’ll have had a swallow test (called a video fluoroscopic swallow study). As well as advice about how food should be prepared for you, you may have had one of these two temporary ways of having food through your nose:

  • nasogastric (NG) tube which then goes into your stomach, or
  • nasojejunal (NJ) tube which goes through the small intestine.

A longer-term option that’s recommended, and you may already have, is a gastrostomy tube or PEG endoscopy. This is when a tube is surgically put through the skin and into the stomach.

These additional ways of having food are especially important if you have difficulty putting on weight. If you have one of these tubes but can still swallow safely, it’s still good to have some food by mouth.

Diet and medication to help with constipation

Your medical team may suggest more fluid and fibre in your diet. Medication can also help.

Diet to help with bone health

Another thing that can be an issue for people who are ‘non-sitters’ and ‘sitters’ is not being able to use bones and muscles as much as someone who can walk.  This makes you more at risk of bone fractures due to what’s called osteoporosis (when bones are weaker and more likely to break). To help prevent this, it’s really important you have enough calcium and vitamin D3 in your diet. If you aren’t sure if you’re getting enough, talk to your parents or medical team. You may get to see a dietician who can give advice.

If it’s possible for you and agreed by your physio, standing has several benefits for health (see section on Posture, Movement & Exercise above).


Conversations with Healthcare Professionals: In 2023, Maxwell (a young adult who has SMA Type 2) spoke to Dr Graeme O’Connor (Research Lead for Dietetics at GOSH) about diet and nutrition in SMA:

SMA Europe: In 2022, SMA Europe ran workshops on nutrition in the spotlight of SMA care. You can watch the videos on their YouTube channel.

See here for more information.

What’s possible for me?

The best way to find out is to talk to your medical team and parents about any possible options for you so that you can make any decisions together. The two treatments potentially available for young people are nusinersen (Spinraza™) and risdiplam (Evrysdi™). You may find the information in our summary guide Drug Treatments for Children in England useful, no matter where you live.

What experiences have others had?

You might wonder what other people have chosen and what made them make that decision; what was having that treatment like; what difference did it make?

There are many people posting on Facebook, Instagram blogs and vlogs about their experiences. All of this can be very useful and interesting, but you’ll be very aware that what happens with one person’s SMA isn’t the same as for the next person. It’s probably also fair to say that if your experience hasn’t been a good one you might not be posting about it. So, whatever you do see – talk to your medical team and parents about it and ask all the questions you want. It has to be the right decision for you.

Your views and how you feel about any treatment and plans to manage your SMA are really important. Everyone will want to know what you think. You may already join in with any discussions your parents / guardians have with your GP and medical team about your care. How often you do this and who with will depend on what’s happening with your SMA. For example, if you’re having difficulties with breathing and swallowing you would expect there to be more meetings and discussions.

Anyone with SMA should have an Emergency Healthcare Plan (EHP) – a written plan of action that any medical team can follow if the person becomes unwell. For you, it’s important, for example, that school knows about your plan. You quite probably already have one and may have been involved in making it but it’s something that has to be reviewed and updated regularly. So, if you haven’t been very involved so far you may want to be next time it’s being discussed.

It’s best for your parents, you and your specialists to agree your plan while you’re well. What’s in the plan will depend on the impact your SMA has on you. As a general guide your discussions and plan should cover information about:

  • Your parents’ / guardians’ contact details – all their phone and mobile numbers
  • What the warning signs would be that would mean you should be taken to hospital
  • Who in your medical team should be contacted in case of an emergency
  • If your breathing could be difficult to manage in an emergency, what different ways you can be helped – so that you understand them and feel OK about them.
  • If you have any difficulties moving your neck and jaw, what these are so that any medical team helping you in an emergency knows what positions may be difficult for you
  • What day to day care you have – any equipment and medications you use to keep well and how and when these are used
  • What food and fluids you have, how you have them and how often you should have them during any illness
  • When and which antibiotics are OK for you

If your SMA is hard to manage, your parents/guardians may have already talked to your local emergency medical services about your needs and what equipment you use at home. Your GP may have helped set this up.

If you do have a health emergency, you should be taken to the closest hospital. Wherever possible, the equipment you use at home should be used – even if this is in an ambulance that’s well equipped.

Sometimes you may need to go to Accident and Emergency (A&E) Services at a local hospital. Frequently clinical staff there will not have come across SMA. Our Information Team has worked with clinical experts to produce an information sheet for you / your parents to give to the A&E team. It provides information that will assist them with their assessment of your needs. You /your parents can download this and have it ready on your phone or bookmark it – see this page.

The information sheet draws on the 2017 International Standards of Care for SMA which were written before disease-modifying treatments became widely available, and brings the emergency care information children, young people and their families need up to date.

If your SMA is hard to manage, you may end up being transferred to your specialist hospital where they’re better able to look after you.

Asking other people who have SMA how they’ve managed the things that are getting you down can be really helpful.
The Adults’ Network is an online community for people with SMA and is one option you might consider.

Find out more in this section.