Help Rupert & Oscar raise funds & awareness of SMA

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Rupert and his good friend Oscar, who also has SMA type 1, are fundraising together. In July their parents are taking on the challenge of walking 100 miles along South Downs Way to help raise funds for SMA charities. 
Oscar and Rupert have both been on medical trials for treatments for SMA. 6 years ago, Oscar was on the medical trial for Spinraza - the first ever approved drug for treating SMA. Today, Rupert is on a medical trial assessing the effectiveness and safety of Spinraza after Zolgensma gene therapy. Taking part in these trials helps medical professionals make the right decision about which treatments to use, and ultimately saves lives of future SMA children.

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At just 8 weeks old, our gorgeous boy Rupert was diagnosed with SMA Type 1B (Spinal Muscular Atrophy). SMA is a genetic neuromuscular condition that causes muscle weakness and wasting due to the loss of motor neurons.  It is a degenerative disease which if left untreated is fatal. Before 2017, without intervention for breathing difficulties, most children with SMA Type 1 were expected to live for less than two years.  About 1 in 10,000 children are born with SMA (in the UK approximately 45 children are born with SMA Type 1 each year).  There has been amazing advances in treatments for the condition in the past few years, but very few people know about the disease. We are on a mission to change that. 

Our son Rupert was born in March 2021. For the first few weeks of his life, he was moving lots - he could break free from a swaddle in seconds and he loved kicking in the bath. He had silent reflux from an early age, which clearly gave him a lot of discomfort; he would cry a lot and wouldn't feed well. Looking back, trying to find a cure for his reflux delayed us getting his other symptoms looked at. At just 6 weeks old we realised something wasn't right. Rupert became floppy and lethargic. When other babies were beginning to lift their heads and explore tummy time, Rupert would just face plant the floor and cry. He was unable to move his legs, his arms were becoming weaker every day, and he stopped moving his head.

 

We asked our GP to be referred to a specialist, but were told to give him more time.  We sought help from different doctors who all told us that his reflux was causing the issues; that he was 'colicky'.  Many doctors are not aware of the disease, which delays diagnosis. Every day is crucial, especially in Type 1 babies, where motor neurons die every minute.  Refusing to accept that reflux was the cause, we saw a neurologist who assessed Rupert, and that was the first time either of us had ever heard of the condition SMA. That evening we took Rupert to A&E and with the help of a paediatric consultant, Rupert's bloods were sent to Great Ormond Street Hospital to test for SMA, and a few days later our worst fears became reality.  At the time of diagnosis, doctors predicted Rupert had a life expectancy of just 7 months.  

 

After blood tests and checks, in June 2021, at 11 weeks old, Rupert was given a lifeline by the NHS. He became the second baby in London to be treated with Zolgensma, a gene therapy that replaces the defunct SMN1 gene.  Zolgensma uses harmless, genetically engineered viruses to deliver functioning SMN1 genes, in order to increase SMN protein levels. Once the virus is introduced into a person, it is able to travel around the body and get to a variety of different cells to help restore some of the SMN protein that is missing in SMA. These viruses cannot produce copies of themselves and are therefore unable to be passed from person to person, and does not change a babies DNA.  Simply put, Rupert will always have SMA. 

We were lucky that, despite losing much of his mobility, he maintained his competent swallow, so he could continue bottle feeding (he had a NG feeding tube during treatment to maintain his weight). We are incredibly lucky that Rupert does not need to use non-invasive ventilation for breathing, or require a NG feeding tube.  

 

 

Fast forward 7 months, Rupert is doing really well. Since Zolgensma, Rupert has started to move his neck, arms and legs, but it is slow progress. He gets tired very quickly.

 

Following his treatment with Zolgensma, Rupert was accepted onto a 2 year trial for dual treatment of SMA in Italy, where he is receiving Spinraza, a lumbar puncture treatment which targets the backup gene, SMN2.  Whilst in Italy, Rupert has physio sessions at Sapre, a physiotherapy centre which seeks to educate the parents and carers of SMA children in physio, massage, sleep and cognitive development.  The experts at Sapre have truly changed the way we as Rupert's parents look after him, and because of their advice and support our little boy is thriving - his muscles are more supple which in turn has increased his range of movement, he eats better,  he sleeps better and he is building muscle safely, supported by bespoke orthotics. 

We are eternally grateful to the NHS for treating Rupert, and thankful to SMA UK, Great Ormond Street hospital and Sapre in Italy, and all of the SMA community for their continued support. Rupert's diagnosis turned our world upside down.  It has been horrific and heartbreaking watching our baby be poked and prodded in 7 different hospitals, but despite all the trauma, Rupert has managed to smile every day, and brings us and so many unparalleled love and joy. He is and will continue to fight his condition every day, and will undoubtedly be faced with challenges for the rest of his life.  But by raising funds and awareness, we hope we can make his life, and so many like Rupert, better, through more research, support and treatments.

 

We are raising funds for SMA charities, who are on a mission to improve access to the best care, services and drug treatments for SMA, and provide support and advice for families affected by the disease. 

 

We really appreciate you taking the time to read through Rupert's story and to try and understand what his condition involves and why we are fundraising for these incredible charities. All money raised will go to SMA charities. 

 

You can follow Rupert's journey on Instagram - @rallyroundrupert 

 

Thank you so much xx