Rasmus was born with the rare muscle disease SMA

In December, they began screening all Danish children for spinal muscular atrophy, SMA. Now they are starting to do the same thing to Swedish children.

Angelica Wedin’s son Rasmus was born in Denmark in December 2022, and was the first baby where the disease was found after screening.

– The day before New Year’s Eve they called and said they had found something in his blood sample. That’s when the world collapsed. They had no idea what it was about, says Angelica.

Rasmus was only a few days old when the chief doctor called and gave the news.

– The day before New Year’s Eve, a senior doctor from the hospital called and said that they had found something in his blood test, which is a muscle wasting disease. There the world collapsed. You had no idea what it was about.

When the news came, Angelica could hardly believe it was true.

– It is difficult to put into words. He is born and is a great little boy and it was thought that there were no problems. All of a sudden you get a message that in a parent’s world is the worst nightmare.

Can have serious consequences

SMA is a rare disease. One in 10,000 children born gets it. Since 2017, there is treatment for the disease. Thomas Sejersen, professor and chief physician at Karolinska Institutet, is happy that children are now being screened in Sweden.

– It is an incredibly long-awaited decision to introduce. This is added as an additional test to the newborn screening test that has been done for many decades.

SMA is not just an uncommon disease. It can also lead to serious consequences.

– The most severe form, which is also the most common, is really serious. It leads to death within two years of age without treatment, says Thomas Sejersen.

Sejersen describes the screening as absolutely decisive.

– Today we have had treatment for several years. That in itself is decisive. The next step to make this even more effective is to get in early. As early as possible. Then the screening is absolutely crucial, because then you get it before you get symptoms.

Feeling good today

Today, Rasmus is eight months old and doing well considering the conditions.

– Rasmus is doing well. A super happy, active and strong baby. The only thing that reminds is in the mornings, when we have to give him the medicine. But if it’s just that, we should be very lucky.

For Rasmus, the treatments continue.

– They will follow him throughout his life. It won’t go away. We cannot take the disease away from him. But with that research there is hope that he will have a normal life, says Angelica.