This week we submitted our comments to the NHS consultation on newborn screening for spinal muscular atrophy. We were shocked to learn that NHS argues against introducing this procedure, and we strongly objected to their views.

Universal newborn screening would allow parents to learn about the disease early and get prepared. It would allow the professionals to introduce best proactive care very early in the disease course. Finally, it would allow doctors to initiate pharmaceutical treatment or offer participation in clinical trials of new, upcoming medications, and thus possibly prevent the disease symptoms from ever appearing.

This would all be possible before the child’s neurones and muscles underwent irreversible deterioration.

In its official review, NHS argued that SMA epidemilogy is uncertain, that the genetic tests do not detect 100% of cases, and that “there is no approved treatment for SMA”. They concluded that universal screening for SMA should not be introduced in the UK.

We have challenged this view. In our response, which will is to be published on the NHS consultation website soon, we stressed that SMA population numbers are fairly well know; that the existing genetic testing methods are highly specific and reliable; and that a pharmacological treatment of SMA does exist and is effective.

We do not yet know how much impact we will make, but we will not stop in our efforts.