– Finally !, exclaims Professor Terje Rootwelt. Together with colleagues at the children and adolescent clinic at OUS, he has for a long time pushed for the muscle disease Spinal muscular atrophy, SMA, will be part of the newborn screening here in Norway. And now Minister of Health Bent Høie can reveal that it will be from 1 September. This makes Norway the first country in Europe to screen all newborns for SMA.
– It means a lot. We have a treatment that we know has a good effect and detecting it early is crucial to get the good effect for the children in question and the family, says Høie who this week presented a strategy for rare diseases.
A few hours after birth, all newborns in Norway are offered a blood sample, a few drops of blood that can tell if the child has a serious congenital disease.
On 1 September, the machines at OUS are programmed to also identify the SMA gene. The treatment can then start immediately.
Started treatment 11 weeks old
Four-year-old Olivia and her parents know how important it is to get started with prompt treatment. When Olivia was only a few weeks old, her parents discovered symptoms of SMA. In a short time she was allowed to start treatment with the medicine Spinraza. The parents believe this has been crucial.
– Olivia has been able to reach milestones that others before us have only been able to dream of, says mother Christina Pettersen.
– GOOD NEWS: The parents of four-year-old Olivia Fredheim have fought for SMA to become part of the newborn screening. From left: Minister of Health Bent Høie, mother Christina Pettersen, Olivia Fredheim and father Helge Fredheim. Photo: Bjørn Roger Brevik / TV 2
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She has been very involved in the fight for SMA to become part of the newborn screening. She found out who was working on this and sent emails every three months to hear how things were going.
– The person in question has been as eager as us and I am very happy that we have made it happen, she says.
At the same time, she says that it is a bit painful because she knows that her daughter’s situation could have been different if SMA had already been part of the newborn screening when she was born.
– Bitter
– It is bitter to know that if you had started the treatment before the symptoms struck, you might have approached a more normal course. Maybe she could go and do other things, says her mother.
But she rejoices on behalf of all who come after them.
– It means a lot to me to be able to contribute so that others with rare diagnoses can have a better future.
– SATISFIED: The head of the clinic at the Children and Adolescents’ Clinic at OUS, Professor Terje Rootwelt, is very pleased that SMA will be part of the newborn screening from 1 September. Photo: Bjørn Roger Brevik / TV 2
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The disease SMA is due to a lack of a gene that provides a survival protein to nerve cells and if you lack this protein, the nerve cells die and you become paralyzed.
– SMA has so far been the most common hereditary cause of premature death in children in Norway, approx. seven children annually. All studies indicate that the earlier you start the treatment, the better it goes, says Terje Rootwelt. He is pleased that there is now a strategy for rare diagnoses.
Will save lives
– We have between 5000-8000 rare diagnoses and here in Norway we screen (from 1 September editor’s note) for 26 of these. Having a comprehensive plan is very important. These conditions require a broad approach.
Rootwelt is fully aware of how important it is that SMA is now included in the newborn screening.
– Will it save lives?
– Yes, there is no doubt about that.
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