Every month, across the UK, parents are hearing the devastating words from doctors that their baby is extremely unlikely to survive to see their 2nd birthday. That they will helplessly be forced to watch as their baby grows weaker before their eyes, losing their ability to move their legs; their arms; to lift their head; to swallow, eat and drink; and eventually to control the muscles that allow them to breathe. The reason for these devastating conversations is because these babies are some of the 100 children every year in the UK that are diagnosed with Spinal Muscular Atrophy. In people with SMA, the brain tells the body to move and the muscles make this happen, but the messenger cells that take these instructions from the brain to the muscles become damaged and the message doesn’t get delivered. The severest and unfortunately most common (accounting for 50-60%) of those diagnosed with SMA are put into a “type 1” category. Children with type 1 SMA will develop symptoms of the condition within months of birth, they will never achieve the ability to sit without support, or crawl, or walk and will lose all motor skills they do have over time.

As a part the conversations had at diagnosis in most of the UK, doctors explain to parents that no treatment can be offered for SMA. But this same devastating addition is not the case for many other parents across the world. In the USA, Canada, France, Italy, Poland and many other countries doctors are now able to say to type 1 parents that they can offer their children a treatment called nusinersen, the first ever treatment for SMA, a “miracle drug” which has been shown through clinical trials to potentially both halt and reverse the decline seen within the condition. The potential of this drug for a type 1 baby diagnosed with SMA is quite literally lifesaving!

When it comes to treatment with nusinersen, time is of the essence. SMA is responsible for the deaths of more infants than any other genetic condition and with the declining course of the condition the quicker that treatment can be received the better the improvements that may be seen. Even in the most severe of cases, babies who have been treated early enough, who have lost almost all ability to move and would never achieve the ability to sit support, have gained the ability to sit, stand and even take supported steps. Due to these kinds of astonishing results and the need to expedite the delivery of nusinersen to those with the severest end of the condition, the pharmaceutical company that have developed the drug – Biogen – ended their clinical trials early and allowed access to it whilst the administration of the lengthy approval process is underway. This process is called an expanded access programme or EAP, which is essentially compassionate use. During EAP the drug is free of charge being funded by Biogen and can be administered to all who fall into the type 1 severity of SMA.

So what options are there for parents of children receiving this cruel diagnosis within the UK? One group of parents and SMA adults have joined together to form a group called TreatSMA. The aim of TreatSMA is to gain access to nusinersen for as many children as quickly as possible and the group have been highlighting to parents their options which are as follows: If you’re lucky enough, you may live in one of the few areas in the UK which will treat your child through EAP, but sadly this is currently approximately 10 children and even areas that have set up EAP are not treating all the eligible patients that they have due to lack of funding allocation for the administration of the drug, despite the lifesaving drug currently being free for the NHS to use! Due to this lack of administration funding, hospital staff are currently forced into the horrendous situation of having to pick which children, desperate for a life saving opportunity, they will treat and which will have to wait longer if they get the luxury of the time to wait. Over 100 eligible children are currently being prevented from accessing treatment in the UK. Another option is to travel to one of the centres in Europe that are taking international patients in their own expanded access programmes, but again this is not an option for all parents, children with SMA are medically fragile, they need to be strong enough to travel and for this reason centres in Europe are not able to recruit some of our UK SMA children that are most desperately in need of help. Seeking treatment in Europe is also expensive and the SMA family will have to find the funds to pay the administration costs themselves. The only other option is to join the efforts of TreatSMA and fight for all type 1 children to have equal right to access this treatment here in the UK in their local hospital. The lumbar puncture procedure to administer the drug is a common paediatric procedure and many health professionals are trying desperately with parents to help gain this access that they know is so vital. Children with SMA are usually extremely intelligent and sociable children, that given the chance grow into adults lead successful and fulfilled lives. These children deserve the chance to live. What we ask for is for NHS funding to be given now to set up the centres needed to administer this drug to all type 1 children before any more lives are lost that could have been saved.