SMA causes progressive muscle weakness and loss of movement, affecting the ability to walk, breathe and swallow. Around 70 young people are diagnosed with it every year in the UK. Over the last few years, a treatment has been developed called Spinraza that effectively slows down the prognosis, but of course this can only be given if families are aware that their children have it. As muscle weakness occurs from birth, it is important that children are given the treatment as early as possible. 

The case for Duchenne Muscular Dystrophy

A similar condition close to my heart is that of Duchenne Muscular Dystrophy (DMD), caused by a fault on the dystrophin gene and affecting predominantly boys. DMD means that young people lose the ability to walk on average around 13 years, use ventilation by their teens and early twenties, and until recently were not expected to live into adulthood. About 150 boys are diagnosed with this condition (more than times that for SMA) every year in the UK, and yet newborn screening is not offered. 

Unlike SMA, there is no accepted effective treatment available for everyone, although the recent use of Givinostat, which is now being offered to younger people with DMD who are still walking or standing, has been shown to slow down the impact of their muscle wasting. After a two-year campaign led by the charity Duchenne UK, Givinostat has just been given NICE approval for in May this year and can be accessed by all young people over the age of 6 who meet the inclusion criteria. 

For many families with young people with DMD, however, it is currently too late. On average, young people with DMD lose the ability to walk by the age of 13 years, and therefore these young people will not be able to benefit from this treatment. 

Why universal screening matters

Of course, being able to access treatments that slow down the progression of these devastating conditions is important, and the work that has been done by both scientists and campaigners in both SMA and DMD is hugely welcomed by families and communities. However, this should not be the only factor in these decisions to introduce newborn screening. Many families will be unaware that their child has a genetic condition, especially a condition like DMD where in around 25% of cases, the genetic mutation may not be hereditary and may begin with the mother which is called ‘genetic mosaicism’. Parents may never even have heard of the condition DMD, let alone look for symptoms or signs of it, as it is a rare condition.

Through my research I have met many families that are affected by DMD, who have visited their GP multiple times in their child’s first few years, like Jesy Nelson, only to be told they are fussing and that there is nothing wrong. Some families may go on to have subsequent male children and then when their older child begins to show symptoms, they discover that their second and even their third child is affected. I am not suggesting that the life of a person with DMD or any rare condition is less valuable than a child who is not affected, but our society is built around the ‘typical child’, and necessary support can often only arrive after multiple battles with a range of services. 

In DMD, this can range from doctors, social workers, wheelchair services, housing, health boards, occupational therapists to name a few! Families are still forced to undergo humiliating DSA and PIP assessments, fight for support for their children’s Education health and Care plans when their young people are never going to ‘get better’. And while we become reluctant experts in these areas we are continuously made to feel that we are somehow ‘gaming the system’. Many families are exhausted, not so much from their disabled children, but from the services they are forced to fight in order to get the support their children need and deserve.

Moving toward a system that thrives

As the academic and activist Sara Ryan has said, mothers of disabled children begin as ‘worriers’ and end up as ‘warriors’. So, all power to Jesy Nelson and newborn screening, this is a major step forward, and I hope it has paved the way for other rare conditions. However, alongside this we need to see access to support made easier for children and their families so that all young people including those with debilitating rare conditions have the opportunity to thrive in life.