Spinal Muscular Atrophy Support UK

TOTAL RAISED: £13,670

Steph Roberts, 37, from Warwickshire explains how Spinal Muscular Atrophy Support UK makes a difference to her family

When Steph Robertss son, Henry, was five months old, she realised he wasnt reaching the same developmental milestones as her friendschildren of the same age. He wasnt attempting to crawl and couldnt hold his head up during tummy time. Being a first-time parent you dont really have a benchmark of whats normal, but my husband, Richard, and I started to become concerned something wasnt right.

Steph took Henry, now three, to see her GP, who wasnt worried about the delayed development. He said Henry would soon catch up and basically told us it was ‘lazy-boy-itis’,”she remembers.

However, by the time Henry was eight months old, his weakness was becoming more apparent. We took him on holiday and couldnt even get him to sit up because he was so weak. We came home and went straight to the GP, asking for Henry to be referred to a specialistfor investigations.”

Henry was referred to a paediatric neurologist at Birmingham Childrens Hospital, who gave him a physical examination, took some blood and ordered a genetic screen which revealed he had Type 2 spinal muscular atrophy (SMA) – the second-most severe form of the condition.

We knew nothing about it but were told it is a life-limiting genetic condition that causes progressive muscle weakness and loss of movement. The doctor explained he would need to be in a wheelchair and have extensive care for the rest of his life. We were devastated and couldnt make sense of what we were being told. Our heads were full of questions but we couldn’t ask anything because we were completely dumbfounded.

Thankfully, the couple were given a leaflet by the hospital about Spinal Muscular Atrophy Support UK. I got in touch with them about a week after Henrys diagnosis,Steph recalls. They have an outreach service and one of their outreach support workers, Maggie, came to see us at home, listened to all our questions and shared some tips and information about what other parents had found useful and how they had overcome some of the challenges we were facing. It was a lifeline to have someone listen to us during such a difficult time, especially as she had seen it all many times and understood exactly what we were going through.

We also used their website constantly. It is very comprehensive and explains things in a way that is easy to understand, so we were able to print information off to give to our friends and family.

The NHS system can be a complex web of trying to find the right person to speak to, but SMA Support were really helpful with pointing us in the right direction and helping us access all the information and support we needed.

As there is currently no cure or treatment for SMA, Stephs focus is on keeping Henry moving and in good health. We work on just moving his limbs to keep them as mobile as possible. We do physiotherapy exercises every day and he goes swimming every week. We try to ensure he has good support when seated so that he doesnt slump, which can lead to scoliosis of the spine. He also needs turning every three hours throughout the night so his body doesnt fatigue from lying in one position.

One of our biggest concerns is for his respiratory health. When he has a chest infection he has such a weak cough that he cant clear it, meaning there is the potential for pneumonia or collapsed lungs.

As Henry has an extreme weakness in his legs, he has been given a Wizzybug wheelchair, which is specially designed for children under five. Children need to feel independent, and the Wizzybugs are amazing. We have a skittle alley in the garden and Henry loves being able to drive up to it and throw the ball down, and he will move around the house and get into some amazingly tight spots. He has adapted so well and is a very happy, smiley little boy.

In April this year, Steph attended an education weekend organised by SMA Support UK, where families affected by SMA were joined by experts and healthcare professionals. It was great to meet other families who understand what were going through, as there are experiences you have when your child has additional needs that others may not have or understand, and that can be quite isolating.

It was also brilliant to get information about new research into treatments and cures and about standards of care that is really empowering as parents. Research moves so quickly and the charities often know about things before the local doctors do.

The charity has also supported Steph in the familys appointments with health professionals. We have a joint professionals meeting once a quarter, where all the professionals involved in Henrys ongoing care come together, and Maggie will come along as a support for me. Sometimes you have awkward questions to ask for instance if you have heard another child in a different county has accessed something weve been told Henry can’t – and Maggie will raise these issues and act as the advocate for Henry.

The charity offers a real mixture of emotional and practical support, which has been invaluable to us. When things go wrong theyre there to support us emotionally, and theyre also on hand with helpful practical tips and advice. Its a place to be able to share the journey, and learn how we can better care for Henry. I don’t know what we would have done without them.

Spinal Muscular Atrophy Support UK the facts

Spinal muscular atrophy (SMA) is a rare, genetically inherited neuromuscular condition which causes progressive muscular weakness and loss of movement due to muscle wasting.

SMA Support UK is an established charity. It is an advocate for better services and access to new treatments so that people affected by SMA are empowered and enabled to live full lives.

The charity provides an outreach service for those with SMA and their families and organises social events where people can share their experiences and where children and young people with SMA can meet and have fun. 

For more information please visit smasupportuk.org.uk.

The Candis Big Give

Spinal Muscular Atrophy Support UK will use the money raised to provide free practical and emotional support to children with spinal muscular atrophy and their families through an outreach service, social events, a Volunteer Peer Support network and the provision of information on current research and treatments.

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