Since late 2016, the gradual worldwide introduction of drug treatments for children, young people and adults who have SMA Type 3 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 3. 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:

• Spinraza™ (nusinersen)
• Evrysdi™ (risdiplam)

There is another treatment for SMA, Zolgensma™ (onasemnogene abeparvovec), but 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 should receive care and support from members of a multidisciplinary healthcare team, who all have an important role to play. Over time, you may have contact with specialists in:

• neuromuscular conditions
• hospital or community
• paediatrics
• physiotherapy
• occupational therapy
• orthopaedics
• dietetics
• general practice and community healthcare

The aim of everyone involved in your child’s care is that your child will stay healthy and enjoy good quality of life. Your team may refer to the 2017 International Standards of Care for SMA (SoC) which are all about best care for children with SMA. Since publication, however, the new drug treatments have brought change and many unknowns. Clinicians nationally and internationally also constantly review and discuss best care and management practice. This does mean that some recommendations are now changing. Though the SoC remain a useful reference point for a family, your child’s care and the management of their condition will be very individualised, based on assessment of your child by their clinical team and a full discussion of this with you. You can find the online Family Guide to the SoC here.

Different members of the team will meet you regularly both to measure any change in your child’s health 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 a child who has SMA should have the same vaccinations as 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.

Your child’s physiotherapist is likely to suggest an individualised exercise programme so that your child can work on their strength, endurance, flexibility and balance. It will include exercises to maintain the flexibility of their joints – especially ankles and knees. Your child may be given supportive splints to help with this. The programme will be built around any physical challenges they are having and what activities they would like to be able to do.

If your child is having difficulty with walking and keeping up or is too old or too big for a buggy, a lightweight wheelchair may be helpful and improve independence. You can discuss what options there might be with your physiotherapist (physio) or occupational therapist (OT).

The vast majority of people who have SMA Type 3 have no breathing problems; though a small percentage have been seen to have a slight reduction in breathing ability.

If your child does have chest infections, your team will want to check the strength of their cough and whether they have any symptoms that suggest difficulties with breathing at night. Symptoms for this are things like: poor sleep quality, headaches, and daytime sleepiness. If they’re showing these signs, they may need regular breathing tests. Unless you or your child are concerned, they won’t need any proactive management for breathing problems.

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 serious respiratory infections.

Good nutrition is vital for the wellbeing of any child who has SMA. If your child is having difficulties with eating or with weight (either gaining too much weight or being underweight) discuss this with your child’s team. They may support you to access dietary advice from a professional, usually a dietician or nutritionist.

A dietician would 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 may be adjusted so that they’re getting the right calories, protein, fat and carbohydrates. It would also include the need for the right amount of fibre and fluids (to help with any possible constipation) and nutrients – especially calcium and Vitamin D which are needed for bone health.

A diagnosis of SMA Type 3 and the future uncertainty it brings can have a very big impact on families.

It’s important that you and your child have emotional support and plenty of time to talk and ask questions. This can be with members of your child’s medical team, your local GP, health visitor, social worker, psychologist or a counsellor.

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 & Outreach Team, and the other people and organisations listed at the end of this page.

Families living in the UK may be eligible for a number of financial benefits to help towards the cost of providing any extra care their child may need. This does depend on your individual circumstances. For further information, see the Living With SMA area of our website.

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 area of our website.

Research into SMA continues with other potential treatments in clinical trials. You can read more about these in this website section.

The International Standards of Care for Spinal Muscular Atrophy (2017) and the guide for families can be read / downloaded from here.

SMA UK

Phone: 01789 267 520
Email: office@smauk.org.uk
Website: www.smauk.org.uk

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.

Our Information Team has worked with clinical experts to produce an information sheet for families if their child needs to attend A&E where staff may never have come across SMA before. You can download this from our website to have it ready on your phone.

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.

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
Website: www.musculardystrophyuk.org

Provide information, support and grants towards specialist equipment for people affected by a range of neuromuscular conditions.

Contact for Families with Disabled Children

Phone: 0808 808 3555
Website: www.contact.org.uk

Contact provide information and support to families who have a child with a disability, including information on benefits and grants.