Twins fight against incurable muscle disease

Jenna Whyman is organizing this fundraiser.

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Hi Everyone,

We are Raffy and Siddy, identical twin boys from the UK.

One day after our 1st birthday we were diagnosed with Spinal Muscular Atrophy type 1 (SMA 1), a rare progressive neuromuscular genetic disease that, if left untreated is fatal before 2 years old.

We are trying to raise money to receive the best physiotherapy, specialist equipment and to help our parents with the financial burden of SMA 1.

Mummy and Daddy noticed that we were not meeting typical milestones like holding our heads, rolling and sitting unaided. We also had a constant rattly chest that we couldn't clear.

Our Diagnosis

Our Mummy took us to the doctors, hospital and contacted the health visiting team but each visit ended with the same outcome - being told that we would catch up, we were lazy because we are twins and Mummy even got told that she was just being neurotic.

We were given lots of antibiotic courses to clear our chest but none of them worked as our chesty rattle was due to respiratory weakness and our lungs were deteriorating - a common symptom of SMA 1. After being knocked back by medical professionals for 10 months, Mummy finally got a GP to take her seriously who referred us to the paediatric consultant at the local hospital, only to be told there was a 6 month waiting list.

Luckily for us, Mummy fought hard for an earlier appointment otherwise we may not have been here to tell our story given that SMA 1 is fatal before 2 years old. At that appointment we had genetic testing, and our parents were delivered the devastating results a few weeks later.

What is SMA 1?

Most people are born with two genes which produce a protein called Survival Motor Neuron 1 (SMN1) & Survival Motor Neuron 2 (SMN2). These proteins allow the muscles to move. The human body is supposed to have 2 copies of SMN1 which is the main source for producing this protein.

Unbeknown to Mummy and Daddy, they only have 1 copy of the SMN1 gene, and we inherited the absent copy from both of them so we were born without any copies of SMN1. Without SMN protein to control muscle functions the motor neurone cells die causing muscle function to become so weak and robs children of being able to move, eat and breathe, and the severest form (type 1) is fatal before 2 years of age.

It's like a living nightmare for our Mummy and Daddy. As a parent they never thought this would be their child...or children in our case. Every morning they wake up hoping it was just a bad dream, but it's their reality. They put on a brave face and a big smile each day for us and our big sister Marnie, and somehow they just keep going to make sure we have a happy home full of laughter and fun.

Life Saving Treatment

We have been extremely fortunate that the NHS have provided us with Gene Therapy using a (fairly) new drug called Zolgensma. Zolgensma targets the genetic root cause of SMA by replacing the function of the missing SMN1 gene with a new, working copy.

Any cells that have already died can't be replaced but going forward any remaining cells should survive, function and be maintained. As it is a new drug, and we are the first generation of children to receive this treatment there is no data past 6 years of age, but those that have received this drug are alive and doing well. Mobility issues are still present and it is likely we will be in wheelchairs for life. But there have been many gains and some children have even hit new milestones. Historically, this is something that never happens with SMA 1 as it is a progressive disease.

Our Mummy and Daddy are beyond grateful to the multidisciplinary team panel at the NHS who decided we were worth saving. Zolgensma has given us a second chance. However, Zolgensma without physio therapy was described to us like a 'gun without bullets'.

We will require a lifetime of extensive physiotherapy, hydrotherapy, specialist equipment and home adaptions to help us become independent and lead the best quality of life, which the NHS just don't have the funding for.

So our Mummy and Daddy have helped us set up this page. The cost of raising one child with a disability can have a great financial impact, so 2 is going to be very hard for our parents. We would be so incredibly grateful for all your support, even the smallest amount will help contribute towards our specialist equipment and therapy needs to give us the best quality of life.

How will your donation be used?

Physiotherapy and hydrotherapy - the average cost for a private physiotherapist is £70 each child each session. That's £7280 a year if we attend just one session a week each. If we add on hydrotherapy once a week, that's a further £600 a month.
Specialist equipment not funded by the NHS - we will need lots of additional equipment to help us flourish. For example a supportive floor seat will cost £500+, a physio bench costs £320, an innowalk to strengthen our legs is £15K.
House adaptions, such as ramps and widening doors so we can move around freely and a ground floor extension so we can have a downstairs bedroom and wet room, which will be a necessity as we get bigger and to heavy for our parents to carry upstairs.
Further treatment - there are 2 further treatment options that work alongside Zolgensma which have seen amazing gains from children with SMA 1. One particular drug, Risdiplam has proven studies that show its effectiveness when used with Zolgensma. Unlike Zolgensma which gives a new copy of the absent SMN1, Risdiplam targets the SMN2 enabling it to work harder and provide more protein. The only reason dual treatment is not offered in the UK is because of the cost. Risdiplam is expensive at approx £10k each per month for life (and costs increase as weight increases!) but Mummy and Daddy like to think miracles can happen as we deserve the same chance as other children that do have access to dual treatment.

Please help us have the best chance at meeting new milestones after we have our Gene Therapy treatment. We are extremely clever, brave and determined little guys and we know with the right help and access to regular therapy we can achieve what historically was never possible for a baby with Spinal Muscular Atrophy type 1. Zolgensma has given us a second chance and we need to take every opportunity that we can to excel with this new drug.

Please share this page and help us reach as many people as we can so we can reach our goal.

Mummy is documenting our journey and milestones on Instagram - @warriortwins_sma

Please go and follow our page, share it, share our gofundme page and spread the word - we are warriors and we will keep on fighting together.