Twins fight for life against Spinal Muscular Atrophy Type 1

PLEASE REMEMBER TO TICK THE GIFT AID BOX IF YOU DONATE THANK YOU

We are continuing our fundraising for Rafferty and Sidney via the charity Tree of Hope. As a registered charity, Tree of Hope are able to help us raise more money for Raffy and Siddy as Gift Aid can be claimed on each donation, maximising the fundraising total. Tree of Hope will manage Raffy and Siddy's fund and pay invoices directly, and therefore donors can be rest assured that all money raised is being spent directly on the needs listed below. 

Hi Everyone,

We are Raffy and Siddy, identical twin boys from Essex. 

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 unable to crawl, stand or walk and unable to make any transitional movements independently such as going from lying to sitting. Due to our weak muscles we have the onset of scoliosis. We are also respiratory compromised as we cannot cough and require machines at night to do this for us. SMA1 affects every muscle in the body, but cognitively we are not affected and are the most mischievous and cheeky duo!

We are raising money so we can reach our full potential and lead a life that is as independent as possible. Physiotherapy is key to give us independence. It improves our muscle strength so we can move more freely and hopefully one day, we will be able to make key transitional moves by ourself. Hydro greatly improves our respiratory system and means we are at less risk of serious complications and hospitalisation over the winter months.

Our parents have provided a breakdown of how your donation will be used:

• Private orthotics. We urgently need a more advanced, supportive back brace that is not provided by the NHS to stop our scoliosis progressing. The cost of this is £2500 each and will need reviewing every 6 months.
• Private physio at 1 session per week - £8,320 (£80 per child per hour)
• Private hydro at 1 session per week - £7,280 (£70 per child per hour)
• House adaptions. Our bedroom is upstairs which is ok while we are little and our parents can carry us but soon we will be too big. We require an extension to our current home to accommodate a bedroom with space to manoeuvre our wheelchairs and a wet room to give us independence. This will cost in the region of £80k.
• Private intensive with Swim Lab - £3000 each week (£1500 per child)
• Private 3 week intensive with the renowned Napa centre - £4500 each
• Deposit for a vehicle adapted to accommodate 2 wheelchairs - £10k
• Equipment to meet our needs e.g wheelchairs, gait trainers. Our next wheelchair will cost £2500 each

DiagnosisMummy 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 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 SMA1?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 which we have 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's 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.

We are extremely fortunate to be under Great Ormond Street Hospital who have given us Gene Therapy using a new drug called Zolgensma which means our diagnosis is no longer terminal, but given how new the drug is the prognosis is not known. Zolgensma is not a cure but it does target the genetic root cause of SMA by giving us an artificial copy of the gene we are missing. Any motor neurone 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 we will be in wheelchairs users 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.

With intensive physiotherapy through our childhood, we are determined to lead an independent life and master new skills such as standing independently and being able to make unassisted transfers from our wheelchairs to a seat or a bed.

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 goal of an independent life. 

Please help us have the best chance at meeting new milestones. 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.

Data on this new drug is limited, but children are achieving things such as rolling, sitting and standing which is unheard of in SMA1 but it requires intensive physio to fire up our muscles. Zolgensma has given us a second chance and we need to take every opportunity so that we can excel. 

If you are not in a position to donate then please share this page far and wide and help us reach as many people as we can so we can reach our goal. Share our page and spread the word - we are warriors and we will keep fighting.

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

Please remember to tick the GIFT AID box when donating - thank you.

Thank you for all your support. 

The Whyman Family

7.5% of all donations to Tree of Hope in relation to this appeal will be allocated to the general charitable purposes of Tree of Hope to cover our core operating costs.If we raise insufficient funds, or surplus funds, then the funds will be used, if appropriate, to fund support for our child’s needs in accordance with Tree of Hope’s charitable objects.  If in those circumstances we are unable to use all or part of the funds for the benefit of our child in accordance with Tree of Hope’s charitable objectives, then any funds that cannot be used will be transferred to be used for the general charitable purposes of Tree of Hope.