Five years ago, Terhi Rapeli was expecting a second child. An ultrasound in early pregnancy showed signs of swelling in the fetus' neck. Rapeli went for further tests, and a few days later received a call from the hospital. She knew immediately that a phone call from the hospital meant sobering news. If all is well expectant mothers are notified by mail. The nurse regretfully informed her that her baby would be born with Down syndrome.
“It was an emotional upheaval. My first thought was that I would never be able to do this, that I am not in any way prepared to be mother to a mentally handicapped child”, Rapeli says.
Down syndrome or Trisomy 21 is the most common cause of mental disability, where the 21st chromosomal pair has a third, extra chromosomal copy. In Finland approximately 3,000 people have Down syndrome. It is not inherited but is caused by a fertilisation disorder, the risk of which increases in women over 35 and men over the age of 45.
According to THL, the Institute of Health and Welfare, the number of Down syndrome pregnancies has risen in parity with the rising childbearing age of mothers since the 1990s. In 2011, 170 Down pregnancies were detected in Finland. The post-1993 average is 154.
“The increase can be explained entirely by the fact that women give birth older,” says THL Research Professor Mika Gissler. “If it’s standardised according to maternal age, then incidences are at the same level as 20 years ago.”
Worst risks known; best scenario difficult to predict
Rapeli received information about the risks of the syndrome and about raising a Down syndrome child from a doctor specialised in genetics. The risks are serious, five percent die in the fetal stage and another five percent fail to make it through the first year of life. Heart defects and other structural disorders in internal organs are prevalent and the risk of leukemia is also great.
Rapeli felt somewhat hopeless with the myriad risks documented starkly on a sheet of paper before her. However, the papers also stated that – despite the risks – a person with Down syndrome can live a good life.
According to Gissler the health care system is obligated to inform parents of the worst risks. However, while some physical defects may be visible from scans, the severity of intellectual disability or other quality of life issues is impossible to know.
Parents are presented with knowledge of what problems could arise, but no knowledge of what problems actually will shape their child’s life, and expected to make a decision to terminate or continue the pregnancy based on that.
Decision is more than medical
Raapeli decided to keep her child. She stresses that medical knowledge of the risks was important, but said that other aspects need to be considered. She found it useful to meet families with a Down-syndrome child and to have contact with social workers close to such issues.
“Even if we made the decision to continue the pregnancy, I feel that there is no single solution to the situation, but that people's life situations vary,” she says. However, she encourages expectant parents who have been warned that they have a Down syndrome pregnancy to make the decision based on knowledge, not fear.
THL’s statistics clearly show that abortions due to Down syndrome pregnancies have crept up, but there hasn’t been a major change, says Gissler.
In Nordic countries, Denmark terminated the most Down syndrome pregnancies – 77 percent, while in Norway the genetic disorder leads to only 40 percent of Trisomy 21 pregnancies being terminated. In Finland and Sweden the figures are comparable – slightly more than half of Down pregnancies are brought to an end. Gissler estimates that differences between countries are due to attitudes towards abortion, rather than those related to mental disability.
In Finland every expectant mother has access to voluntary prenatal screening, but no one can be forced to undertake such tests.
Roni the "easiest" child of three
Terhi Rapeli’s son Roni is now 4 years old. He goes to a normal daycare where he has a special assistant who helps him with activities like music and kicking a ball.
“Roni is the middle of three children, and actually the easiest,” says Raapeli. “Number one and number three are willful types, while Roni is cheerful and sunny and loves everyone.”
Roni already speaks sentences and clothes and feeds himself. His disorder does present a burden in terms of rehabilitation and paperwork, but his mother has found that assistance in these regards has been forthcoming and happily given.
In the future, Roni will study at a special institution, and as an adult he can seek work in practical vocations.
Raapeli’s hopes for Roni are no different from those of most parents.
“He probably won’t become a surgeon, but neither will many others” she says. “For example, his mother isn’t likely to achieve that professional either! I hope that he finds a life partner with whom he can share his adulthood and old age.”