“The first month was perfectly fine, with no symptoms that could lead us to say there was a problem… The second month we had some questions, but it was at three months that we finally went to see a neuropediatrician to talk about hypotonia. We got the diagnosis two weeks later: spinal muscular atrophy, a disease we did not know about.

Even though Jules has had treatment and it works, we still live with a kind of guilt for not having been able to react earlier and realise in time that there was a problem. We have understood and we see that the treatment works very well if it is taken before the symptoms. We try to emphasise that screening at birth is something that should be put in place so children with this disease can have a normal life. Today we say that, if hadn’t been for those 3 months, Jules would live like a normal child and later like a normal adult. Because of 3 months, a whole life is turned upside down. With complications, for him, for us, for those around us…

When a child is born, we do not imagine it can disappear after a few months. It is not something you have in mind and screening at birth can help identify this type of serious illness and provide rapid treatment, and not leave families with this doubt that settles in as the weeks go by and the child develops differently from what you would expect, and finally this guilt that will remain for life.”