When Arthur was 3 weeks old, we received a phone call from the clinic where he was born to tell us about an abnormality in the Guthrie test. We went to the hospital the next day. We were both in shock. They examined him, they said he had no symptoms, but what we knew at that time was that it was fatal and that he had 2-3 years to live. We then met very quickly a doctor specialising in the disease. He was very reactive, he told us “we do not have a second to lose, we have to act now“. It was the professor’s responsiveness that made all the difference. We were very lucky… Everything was explained to us, it was a race against time… Arthur is followed up regularly to check his development and the possible side effects of the treatment.

Since the treatment, he is developing normally, like a baby of his age. We try to help him develop like a healthy child, without over-stimulating him. There are a lot of medical appointments, but apart from that, we live each moment to the full.

If Arthur had been born elsewhere, we would have had to wait for symptoms to be diagnosed. But with this disease, even if the child recovers a little with treatment, it is impossible to go back completely. But treating him beforehand, like Arthur, he can develop normally.

Screening has completely changed his life, he has hope of a normal life. Arthur is proof that it is possible to live a normal life with this disease, provided it is detected at birth.