Improving newborn screening
By participating in BabyDetect:
- You allow your child to benefit from a more extensive screening, free of charge
- You take part in the progress made against rare diseases
Improving newborn screening!
For more information:
- Scan the QR code.
- Speak to your gynaecologist, paediatrician or midwife.
A research project that examines expanding newborn screening with more than 120 rare, serious, and treatable infantile diseases.
This test can identify more than 120 genetic diseases. This allows doctors to treat these diseases early, often before the first symptoms appear.
For any newborn after the consent of their parents.
At the maternity, 2 days after birth.
As part of the official newborn screening program, a few drops of blood are collected from the baby to screen for 19 serious diseases. This is called the heel-prick (or Guthrie) test. With BabyDetect, we collect a few more drops to screen for more than 120 extra diseases.
If we don’t get back to you, none of the diseases we screen for have been detected. In this case, “no news is good news”. If an anomalous result is detected, a specialist will contact you as soon as possible.
This test will NOT cause any harm or additional discomfort to your baby.
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.
“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.”
They told me “Emma has spinal muscular atrophy”. Emma was just one month old. I thought “why, what have I done?” The world was falling apart. The sentence I said to the professor “Save my little girl“. And he answered me: “We will fight together“. That I will never forget. We started the treatment on 10 August 2018, and today, when Emma sits next to me on the sofa and falls down and then stands up again, I cry with joy, not with sadness.
“There is a medication, there is hope, we need to talk about it soon!”