Since the turn of this year, serious and debilitating spinal muscular atrophy (SMA) has been one of a number of diseases tested in the heel prick screening check of newborns. After the first two weeks, the new screening check has already found two children with the disease.
"This is a huge breakthrough for treatment of muscular atrophy, and an entirely new situation for children, parents and us at the hospital," said Peter Born, a consultant at the Department of Paediatrics and Adolescent Medicine, who examines and diagnoses children with muscular atrophy.
Previously, the disease had not been diagnosed in children until they had symptoms; for example because they could no longer raise their head or were not eating or not learning to walk. Children usually developed the first symptoms of the most severe forms of the disease when they were a few months old. Treatment of the disease has been available since 2017, but the muscle loss could often not be restored adequately and the majority of the children continued to need extensive support and a wheelchair.
It now seems that this situation is coming to an end.
“The screening works, and it will mean that many children will not become ill at all, because they receive the correct treatment before the disease develops. These children would otherwise not have been found until they had developed symptoms or had been through a long diagnostic evaluation. Even with rapid treatment, these children have suffered serious symptoms such as respiratory and eating problems as well as frequent admissions,” says Peter Born, who with others has been working intensively to get the screening implemented.
Rasmus is a miracle
Around seven to eight children are born with SMA in Denmark every year. One of the first children to be found with the new screening method was Rasmus, who was almost seven weeks old at the time. As his mother, Angelica, says, he is in the pink!
“It’s fantastic that they can do all this here. I’m from Sweden, and this type of screening isn’t available yet, so I’m really happy that I had Rasmus in Denmark and could get the screening. Being able to lead a completely normal life, even though you’ve got this disease, is just incredible,” says Angelica.
Angelica and her husband Martin had decided to follow the physician’s recommendation to give Rasmus treatment as soon as he was two months old.
“Rasmus will have to take medicine every day for the rest of his life, but according to the physicians it has a delicious strawberry taste, so that shouldn’t be a problem,” says Angelica.
Optimistic about the future
Even though the diagnosis was a shock, Angelica is confident about the treatment and the prognosis.
“Of course it’s terrifying to hear that your child has such a serious illness, and we must think very hard about the situation, but I have faith in the hospital and what they say. Peter and his colleagues have been very positive, and we’re trying to keep focus on what they say, and if everything goes well, Rasmus will have a completely normal life and the disease will never develop. It’s a miracle. We went from feeling distraught because Rasmus has this disease, to feeling very optimistic about the future,” says Angelica.
Angelica says that Rasmus’ older sister was immediately offered an examination for SMA too, because there was a 25 percent risk that she also had the disease because both parents carried the genetic defect. Fortunately, 2½-year-old Annie does not have the disease, but the parents are very grateful to have been offered the examination.
New situation for professionals
Being able to give a positive message to parents after a serious diagnosis is completely new for physicians and nurses, says Peter Born.
“Previously, parents were extremely worried when we spoke to them, because we didn’t see the children until they were already seriously ill and had lost much of their function. Now we can talk to the parents while they are getting to know a healthy newborn baby who looks just like any other baby. And even though they’re shaken by the diagnosis, it’s nice to be able to say that, if everything goes well, and the treatment works, the child will develop as normal,” says Peter Born.
He explains that children with a disposition for the most severe form of the disease will probably only develop mild symptoms, while children likely to have milder forms of the disease will probably develop entirely normally.
Targeted genetic treatment
The disease is due to an inherited gene defect which prevents patients from forming enough of the specific protein that is necessary for effective motor-neurons in the spinal cord. This weakens the patient’s muscles. There are three different genetic treatments to increase the amount of the deficient protein.
Today, children with SMA are monitored at Rigshospitalet or at Aarhus University Hospital, and a collaboration has been set up with Odense University Hospital. The children are seen about every other month.
“We have no idea exactly how the process will be organised in the future, and what the standard treatment will be in 18 years’ time, but it will be exciting to see and to be part of,” says Peter Born.
Facts about screening for spinal muscular atrophy (SMA)
- SMA is the 19th disease children are screened for in Denmark through the heel prick test.
- The sample is sent to Statens Serum Institut (SSI), who contact the hospital one or two days after the test if the result is positive and the child has SMA.
- The physician at the hospital will then contact the family immediately and tell them that signs of SMA have been found in the blood sample, and that the child must be tested further to make an accurate diagnosis.
- After about two days, Rigshospitalet will receive the results of the second test and can make a diagnosis. The parents are then called in for a meeting to discuss the diagnosis and treatment options. If there are any siblings in the family, they may also be offered a test for the same disease, if relevant.