It’s still a fleeting impression, but shouldn't there be more children with Down syndrome? The prevalence of genetic mutations should be increasing, as more and more women are becoming pregnant at a later age. But are fewer handicapped children being born today?
Nowadays there are tests that can be performed while the fetus is still in the womb to determine whether it has any genetic mutations, such as too many chromosomes. New blood tests can now be performed in the third month of pregnancy, earlier than before. The results can provide a degree of certainty over some disabilities.
But the tests inevitably lead to the question of whether to keep the child or to terminate the pregnancy, a question only parents can answer.
1 — "We Killed Our Son"
by Sven Stockrahm
There are three days in the year in particular in which I am reminded of Luca. One is the day we found out. Then there is his birthday and, finally, the day of his funeral. But he’s actually always with us. He would have started school this year.
No one told Lisa Erdinger* what it's like to kill your own son. Six years have passed since she ended Luca's life, but the lost child still dominates her thoughts today. It was a late termination, taking place at the beginning of the sixth month of pregnancy, shortly before Luca would have been able to breathe on his own. He was born in a delivery room in the labor and delivery ward, where there are photos of newborns on the walls, next to colorful dabs of paint stamped with the tiny hands and feet of boys and girls. It's a place where hundreds of children a year come into the world crying. Luca was no longer able to cry.
Allowing her son to die was their biggest mistake, says Lisa. But perhaps allowing him to live would have been wrong, too.
Wednesday, May 21, 2008. "It's a boy, and he has trisomy 21. Do you know what that is?" Lisa Erdinger was home alone when her gynecologist called. They were on a first name basis, but she had not expected her doctor to mention the test again, given that it had been performed two weeks earlier. But it had taken the lab longer than expected to analyze the results. Yes, she said, she knew what trisomy 21 was – Down syndrome.
"Think about what you want to do," the doctor said, "and come to the office on Monday." After hanging up the phone, Lisa thought about what it all meant. She had never even considered having an abortion. She had thought that the amniocentesis was merely a precaution. She was already 35 when her first son, Lars, was born, and she had also had an amniocentesis done at the time. Her pregnancy was considered risky given her age. Today she would have had to receive more in-depth information and consultation, as required under the Genetic Diagnostics Act in effect since 2010. At the time, however, her gynecologist had hardly told her anything about it. She was given a brochure describing the possible results. But she didn’t read the brochure very carefully. And now this. She had never expected an outcome like this, especially after everything was fine on the last ultrasound images of Luca.
Their one-and-a-half-year-old son Lars was with his daycare provider and her husband Richard was at the office when she tried to reach him. But he didn't answer the phone. Lisa called her mother instead. "Oh shit," she said, "when will you have it taken care of?" Suddenly Luca was no longer what he was supposed to become: a child. He was an "it." A defect.
Perhaps the doctor was wrong, she thought, and maybe Luca could be born a healthy baby. After all, diagnoses are sometimes wrong.
Lisa and Richard spent the weekend in front of the computer, Googling for answers to questions they had never wanted to ask. What exactly does Down syndrome mean? How would it change their lives? What if Luca needed life-long assistance? What happens to us as a couple? How would their son Lars deal with it? No one knows how severe a case of trisomy 21 will be. People with Down syndrome can be severely disabled, both mentally and physically, and some are born with severely damaged organs, including heart defects. Others are physically healthy and of average intelligence.
The Erdingers felt helpless. Right and wrong were suddenly no longer categories.
Can we even handle this, they wondered?
Luca was much more lively than his brother throughout the pregnancy, and Lisa felt him kicking early on. She and her husband had never imagined that their child could be disabled. Did they want a disabled child? They spent hours debating the pros and cons, and no one offered any support. No one in the family said to them: "We can do this together." Even Richard's parents said: "This sort of thing doesn’t have to happen nowadays."
Is that what you expect of me, Lisa asked? That I get an abortion?
She began to feel growing pressure. The information she found on the Internet about late-term abortions made her feel sick. She was at the end of the fifth month, in her 20th week of pregnancy. It was no longer possible to have an operation, under anesthesia, that would simply have ended with Luca's disappearance. Instead, she would have to give birth to him, just like his brother Lars. Hormones, administered as suppositories, would trigger early labor, and Luca would be born in a delivery room.
It would be very unlikely that his body, just big enough to fit into Lisa’s hand, could withstand the pressures of birth. Even if Luca were still breathing after delivery, his chances of survival would be poor. His lungs, one of the last organs to develop, would probably be too weak to function properly. Luca's body would restrict all functions, and his heart would beat slower and slower until it finally stopped.
There was little time left. If Luca were to die, it would have to happen soon. Many doctors refuse to perform abortions after the 20th week of pregnancy. Besides, premature babies can almost survive outside the mother's body at that point. Other doctors advise killing the unborn child inside the womb beginning in the 22nd week, before it can even slide into the hands of obstetricians, still breathing. Otherwise they could face the dilemma of having to care for the child after delivery. If the parents consent, the unborn child is euthanized with an injection to the heart, before contractions begin. After reading the information, Lisa felt more reluctant than ever.
Give Luca a lethal injection? Never, she thought. I would rather jump off the nearest bridge before I let that happen. Absolutely not – I can't do this, she thought.
Monday, May 26, 2008. The gynecologist was stunned that the Erdingers didn't know what to do. Another amniocentesis? Unnecessary, she said, because the results are already clear. Lisa and Richard couldn’t decide whether to keep Luca or end his life. Lisa wanted to know if Luca's body was healthy. The doctor referred her to a clinic.
Tuesday, May 27, 2008. Ultrasound. Luca's heart was beating strongly, and there was no sign that anything was wrong. The stomach and intestines also looked normal. But his nuchal fold was relatively thick, a sign of Down syndrome. If the diagnosis had not been made already, the doctors would have ordered an amniocentesis to test Luca's genetic material for trisomy 21.
"We can do it," they thought, "if it's only Down. But it wasn't quite that easy. Is this a burden we can impose on Lars? What if Luca does need assistance, lifelong assistance? We can’t do it, they thought. Or can we?"
Wednesday, May 28, 2008. A week had passed since Lisa received the call from her gynecologist. What should they do? The Erdingers had made no headway. There were only a few days left to – well, to do what? The chief physician at another hospital took the time to explain to them why the diagnosis was unambiguous. They had an appointment for a pregnancy conflict consultation at pro familia, a family assistance organization. Doctors are required to make all women who want to have an abortion aware of the option of consultation.
Once again, the Erdingers listed the pros and cons. The counselor was sympathetic, but she couldn't give the Erdingers an answer to the question of what to do. Lisa and Richard went to the youth welfare office to find out if they would be eligible for support services if they did decide to keep Luca and then became overwhelmed. Could a foster family be the last resort? There are already too many children today who need new homes, the counselor said. Yet another day had come to an end, and the Erdingers still didn’t know what to do.
No one was helping them. And who could help them? A doctor who tells you what to do? It's our life, they said. What happens if we choose one of the options? There were no answers to these questions.
Thursday, May 29, 2008. Lisa and Richard were sitting with Marcel's parents in their garden, drinking coffee and eating cake. Lars's daycare provider had set up the meeting. She hadn’t known prior to giving birth that her son had Down syndrome, Marcel's mother said. It was only discovered after he was born. The Erdingers wanted to know what everyday life was like with a child who has Down syndrome. There are good days and bad days, said Marcel's mother, but what family doesn’t have its ups and downs? She was still talking when her son came home from school and hurried out into the garden to play. He was a happy boy with no physical disability.
That could be Luca.
Marcel's mother told them she didn't know what she would do in their situation, and that only they could make that decision. It was time to go, and they were still clueless. "Let us know what you decide to do," said Marcel's mother. But how could they ever get to that decision, they thought?
Friday, May 30, 2008. The Erdingers were exhausted. They had spent days crying, shouting and getting little sleep, as they weighed their options. Lisa felt abandoned. Richard tried to console her but failed. After all, his wife was the one carrying their son in her belly. Perhaps the sensible choice was not to have Luca. Why make their lives so difficult and risk an uncertain future? Lisa was anxious and distraught. Should she do what their friends and families expected them to do? It was time to make a decision. She couldn’t endure it any longer.
Richard began calling hospitals, where abortions are performed in Germany.
"No, we are only accepting emergency cases today."
"No, we only have an emergency staff, and we don't do late-term abortions."
He kept trying.
"Is your wife hemorrhaging? If not, we have an appointment available on Monday."
"Listen, my wife will hemorrhage if she jumps from the balcony."
There was a pause.
"Okay, you can come early tomorrow.
Saturday, May 31, 2008. Luca was visible in the grainy black-and-white video. There was nothing to indicate that he was unwell. Lisa Erdinger gazed at the monitor while the doctor scanned her stomach with the ultrasound device.
"What on earth are we doing here?" she thought to herself.
Luca was kicking and his heart was beating. Then he did somersaults and played with the umbilical cord. They were the last images of Luca. Lisa felt overwhelmed. She didn't know what was happening to her. There was simply too much pressure.
"Turn it off!" she ordered.
The screen went black. The examination is a requirement, the doctor said apologetically. She had stayed late just to perform the abortion, and she had explained everything to them. "Once we insert the suppository, there is no going back," she said. The contractions would begin within the next few hours, she explained. It was time to decide. Life or death. "Should we terminate the pregnancy?" Lisa and Richard Erdinger looked at each other. Could this be the way out of a desperate situation, one in which they were unwilling and unable to do anything at all? "Yes," said Richard.
The night nurse entered the room where Lisa was waiting to give birth. She couldn't understand what Lisa was doing, she said, adding that she had a disabled child of her own. "I can't give you the kind of attention I should."
At least the night nurse was honest. But what have we done, they said to each other?
It was late in the evening, and the mother and her son were together for the last time. Richard had gone home to look after Lars. Lisa's parents were taking care of their grandson. Lisa placed her hand on the left side of her abdomen. She felt Luca pushing back. There was a kick, but then nothing. Never again.
Sunday, June 1, 2008. Lisa's water broke at about 5 a.m. The night nurse called the delivery room, but it was occupied, so Lisa had to wait a few more hours while undergoing painful contractions. She felt the last, powerful contraction while still in her hospital room. In the delivery room, the midwife delivered Luca at 8:30 a.m. There was silence.
"Is he dead?" she asked.
The midwife nodded. He was a 240-gram (8.5-ounce) person, 22 centimeters (8.7 inches) long, with feet smaller than the diameter of a two-euro coin. His fingers were as thin as matchsticks. Lisa was taken from the delivery room to an operating room for the curettage. The anesthesiologist looked at her and said: "You have my sincere condolences." They were words that no one else would utter to Lisa Erdinger after that.
During the surgery, her husband Richard returned to the hospital room with Luca. He was now alone with the dead body of his son. Luca was lying in a small basket, wrapped in a piece of rainbow-colored silky material. "He looks like me: his hair, his face, his legs, knees and hands." Richard wept, begged for forgiveness, shouted in despair and stared out the window and back at the tiny face. When Lisa returned from the operating room, the world had become a different place for them.
"We killed him. It was Luca, not a child with Down syndrome, but our son that we killed," the parents believed.
They refused to allow Luca to simply be disposed of. In some hospitals, premature babies like him are incinerated, like organs that have been removed, tissue or amputated limbs. In 2008, children weighing less than 500 grams at birth were not considered persons yet. From a legal perspective, they never existed. They were newborns that had never seen the light of the world before leaving it again. But that would change with a new law enacted in May 2013.
Lisa knew it was wrong to kill Luca. She had lost control. What had happened to her? She immersed herself in preparations for the funeral. She was making decisions again. She bought a coffin for her tiny, dead son, a little basket, hardly any bigger than a breadbox, made by a small company in the Netherlands.
Friday, June 13, 2008. Luca was buried next to Lisa's grandparents. In the last few days, she had gone to great lengths to make it possible. The church had agreed to perform the funeral, and an undertaker had prepared the dead fetus. The grandparents came to the funeral, and so did Lisa's brother. Richard's brother chose not to come, saying that he hadn't known Luca. Lisa and Richard wrote a few words to read at the funeral.
"…You already had a name and a place to live. … Your arrival demands that we say goodbye. … It feels as if there were no end to the night."
Parting with Luca meant parting with the ability to feel lighthearted. Lisa changed. She was overcome with guilt. She had made the wrong decision, she thought, and so had Richard. Why didn't he fight for Luca? Did she do it? Lisa became consumed with everyday life, and she became withdrawn, doing only what was necessary. Her first son, Lars, suffered as a result. She would take him to his daycare provider in the morning and pick him up in the evening, but she stopped playing with him. His second birthday in September, a happy event, was sheer torture for Lisa.
How can I be happy for Lars, she asked? His brother will never celebrate his birthday, and he'll never be able to laugh.
For the next two years, life seemed to pass her by. Lisa felt as if she was standing outside her own body, and everything seemed dull and pointless. Her husband Richard tried to hold the family together. He went to work, ran the household and took care of Lars. Lisa stopped answering the phone when her parents called. Once, when her father came to visit, she shouted at him and threw him out of the house. She was overcome with rage and despair. She went to a health spa, hoping it would help her process her grief, but it didn't do any good. Lisa waited months to be admitted to a therapy program. She stopped seeing her friends. No one seemed to understand what she was going through.
No one wanted to hear about Luca. "They told me I should start acting normally again," she said.
"They wanted to know what my problem is. After all, it was what I wanted!" Friends would then tell her, "You can still have another child." To Lisa, it felt as if they were talking about a broken teacup in a set, a teacup that could be replaced.
The Erdingers tried to have another child. They tried artificial insemination three times, and they also registered as foster parents, but then they gave up. In the end, Lisa managed to come to terms with herself. She was in therapy but discontinued the sessions after a short time. She said that she had learned to let herself grieve but not to allow her grief to control her life. She went back to work in 2010.
The feelings of guilt remained. Both parents now have a tattoo of stars and the name Luca. Lisa has visited her son's grave three or four times in the six years since his death. His gravestone is shaped like a heart.
June 1, 2008 ✝
"I can't go there," says Lisa. "I can't do it. When I stand there, it reminds me of what I did. It was final. It created a wound in my life, one that's been glued shut but will never heal. I try to accept it, but I will never forgive myself."
Today Lisa and Richard say that they have two sons, but that one of them didn’t make it.
*Names changed by the editors
2 — Tests Pregnant Women Can Have Done
A situation like the one the Erdingers experienced is not the rule. The family had to make their decision under significant time pressure, because their unborn son's trisomy 21 was discovered late in the pregnancy. Late-term abortions are rare.
New blood tests that can detect Down syndrome early in pregnancy, and with a high degree of certainty, give parents more time to reach a decision. In contrast to amniocentesis, which carries a risk of causing miscarriage, these tests do not pose a danger to the mother or child.
All of these tests are voluntary. Genetic analysis is not a necessary medical procedure, and no one is required to have such testing done on a child before birth. The decision whether to have these tests done is entirely up to the parents.
The following graphic shows how PraenaTest, a test available in Germany, and similar blood analyses work.
This blood test is part of prenatal diagnostics to examine the fetus for possible disabilities.
Doctors regularly measure heart rate and monitor fetus development and the health of the mother. The aim is to detect problems early on and reduce complications in pregnancy and during delivery.
The following graphic provides an overview of the times at which specific tests are possible, what is covered by health insurance and which additional tests pregnant women can have done at their own expense in Germany.
Beata Kowalska* chose not to have her unborn child screened with all the methods of modern medicine. Standard examinations showed nothing unusual, and she decided not to have any additional prenatal testing. She is happy about her choice today.
3 — Benjamin Has Down Syndrome
by Alina Schadwinkel
"Doctors can be horrible," says Beata Kowalska, recalling the days after the birth of her son Benjamin. He was a planned child. He had just been born when the doctors informed her he has Down syndrome. "All I could think was: What's he missing? He has feet and he has hands." Her husband agreed. "Don’t worry about it," he said. "The boy looks healthy. And he's sweet!"
A blood test confirmed the diagnosis. The parents were told that they would have a lot to deal with in the future. The boy would probably grow more slowly than normal, his heart could be damaged and he would never develop intellectually the way other children do. He might even require lifelong care. But Kowalska was overjoyed by the birth of her son. "I wasn't really listening to what they were saying," she says.
Today Benjamin is five, plays soccer, dances, sings and goes to a daycare center that specializes in including disabled children. In recent years, Kowalska has never had the feeling that her son is disabled. "He cries and wets his pants, just like other children," she says. Sometimes people ask her if she wants another child, a "real" child. "I don’t understand that," she says. Kowalska has adjusted her life for Benjamin, without asking questions.
A Day in the Life of the Kowalskas
6:00 a.m. Time to get up. While her son is still sleeping, Kowalska showers, gets dressed and makes breakfast. At some point Benjamin wakes up, walks into the kitchen barefoot and asks for some hot chocolate. He also wants to listen to music, he says.
"He's full of energy in the morning," says the mother. Sometimes Benjamin insists on being fed, even though he knows how to eat with a knife and fork. "Children just know how to wrap you around their little fingers," says Kowalska, laughing. While she cleans up and gathers her son's things, Benjamin plays with two cars on his play mat. Kowalska puts out a different toy every day, which makes him happy. "Then he can focus on one thing," she explains.
7:30 a.m. Time to get dressed. Benjamin's mother pulls his sweater over his head and arms. The boy twists and turns, unable to get his hands through the sleeves on his own, whimpering because he wants to keep playing.
Then Kowalska puts a new diaper on her son. Is it a problem when a five-year-old isn't toilet trained? "Oh, not really," she says. They already tried going without diapers, but it didn't work. Because Benjamin feels sad when something goes wrong, they decided to keep using diapers.
They have to get an early start. Benjamin has occupational therapy and speech therapy on Fridays, in the morning, when children have the greatest ability to concentrate.
8:30 a.m. Benjamin doesn't want to leave the apartment. In the summer, his mother entices him with the balance bicycle, but it's too cold today. Kowalska places the boy in the stroller and tells him that he's about to see Patrick. Benjamin is happy. Suddenly he's in a hurry to get to the daycare center.
Patrick is Benjamin's occupational therapist, and the weekly hour of therapy is part of the daycare center's program. Benjamin likes Patrick, who works with him on everyday activities, like getting dressed, doing crafts and playing. The therapist makes sure that the five-year-old concentrates on everything he does.
"It works better when I'm not there," says his mother. While her son is in daycare, she manages the household and attends to her care-dependent father. "It’s just what I do," she says. Her husband travels a lot for work and is rarely home.
Under his therapist's watchful eyes, Benjamin stacks toy blocks and tries to put together Lego pieces. Fine motor skills are not his forte.
10:30 a.m. Speech therapy. Benjamin is beaming as he runs toward the speech therapist and hugs her. He feels good in her presence and is eager to learn from her.
The speech therapist has been working with Benjamin at the daycare center for the last six months. His vocabulary is growing, but slowly. "Occasionally I catch myself thinking: Nothing new is happening," says his mother. But then she tries to be more patient and tells herself that her son is trying. And he's a great dancer. Actually, she says, her son surprises her every day – in positive ways.
Kowalska is grateful for the ability to use the daycare center and its services, which are covered by the German public health insurance system. Three years ago, the family moved to an apartment with a small garden, next to a playground and close to the daycare center. They wanted Benjamin to be able to go outside and see friends whenever he wanted to, without his mother constantly having to look after him.
1:30 p.m. It's lunchtime at the daycare center, but Benjamin doesn't want to eat. It takes some convincing before he finally sits down at the table, but then he stays there as briefly as possible. With breadcrumbs on his face, he runs back outside to play with the other children.
The children think it's normal that some of their friends are slower and can only say a few words. Is Benjamin sick? Benjamin has Down syndrome, they say, that's all.
3:00 p.m. Time to pick up Benjamin. With a runny nose and dirty rain pants, he throws his arms around his mother's neck. Then he takes her hand, pulls her toward the door and says: "Come, Mama!"
He has just uttered two words that make logical sense together. Kowalska feels proud for a moment, the way she always does when her son achieves something, especially something that doctors said "might never be possible." Perhaps they've had too many tests and seen too many doctors. Benjamin is afraid of doctors by now. A recent visit to the dentist only succeeded under anesthesia.
4:00 p.m. They're home again. Benjamin runs into the kitchen, reaches for the ingredients for pasta with pesto sauce and hands them to his mother: "Eat!"
For weeks, Benjamin hasn't wanted to eat anything but pasta with pesto sauce. He is unable to say why it tastes so good to him. "But is that important?" his mother asks. He is stubborn and has a strong personality, she says, but he's also polite. He always says "bye" when he leaves a room. It makes his mother laugh every time.
5:00 p.m. The doorbell rings. Benjamin's best friend Elian* is at the door. Benjamin pulls him into the house without saying a word.
Her son prefers playing with older children, says Kowalska, maybe because they can show him a lot. He is smaller than children his own age, and his muscles are weaker. But he doesn't have a heart defect, which is common in children with trisomy 21. "So I don’t have to worry when he runs and romps around."
7:00 p.m. Bedtime. Benjamin would play all night if he could. Elian is still there and helps out while Benjamin takes a bath and brushes his teeth.
"He listens to him, and then he does everything he's supposed to do," says Kowalska. As soon as she has convinced his best friend to go home, she reads to her son. Sometimes it’s a foldout book for three-year-olds and sometimes a fairy tale for children aged eight and above. He has a favorite cookbook he likes to look at. "Grandpa," he says, pointing at the man on the cover. His mother explains that the man is a TV talk show host and celebrity chef. "Grandpa!" Benjamin says with conviction, throwing his body into the pillows.
8:30 p.m. Benjamin is sleeping. Finally, his mother has some time for herself.
Did she imagine her life differently? Would she like to go back to work? No, says Kowalska. She had already planned working only half days as a mother. "After all," she says, "I want to see my child and be part of his life."
*Name changed by the editors
4 — Who is Allowed to Live?
Prenatal diagnostics can be an opportunity or a burden for parents-to-be. It gives them a chance to gauge how much responsibility they think they can handle. But it can also overwhelm parents.
There are no reliable statistics on how many pregnant women currently decide to terminate their pregnancies when they receive a Down syndrome diagnosis before birth. There are, of course, figures on the number of abortions performed in Germany, but the reasons for termination are not recorded. There is also little information on the size of the Down syndrome population in Germany today.
It is clear, however, that people with Down syndrome now have a better chance of living a long and fulfilling life than in the past. There are many grant and assistance programs in Germany. Good medical care and the availability of early treatment for organ damage and heart defects have more than quadrupled life expectancy for people with Down syndrome in the last 50 years.
If genetic screening in the womb becomes routine, what will be the consequences?
Will people with Down syndrome become more socially marginalized in the future, because the availability of modern diagnostic procedures will prompt people to ask: Is this is even necessary today? Will there be fewer people with these anomalies in their genes?
Authors: Dagny Lüdemann, Alina Schadwinkel, Sven Stockrahm
Editorial coordination: Dagny Lüdemann, Fabian Mohr
Infographics: Lisa Charlotte Rost, Ela Strickert, Alina Schadwinkel, Paul Blickle
Video: Fabian Mohr, Janine Stengel
Photographs: Janine Stengel
Editor: Meike Dülffer
Translation: Christopher Sultan (English), Anne Leichtfuß (Easy Language)
Proofreader: Cäcilia Hille
Dr. Anja Fünfstück, gynecologist in private practice in Berlin
Prof. Wolfram Henn, Human geneticist at the University of the Saarland and member of the Central Ethics Committee of the German Medical Association
Dr. Wera Hofmann, biochemist and medical and scientific director at LifeCodexx
Dr. Thomas Mandel, specialist in pediatrics and adolescent medicine, and director of the Social Pediatric Center in Berlin-Neukölln
Prof. Urban Wiesing, medical ethicist at the University of Tübingen
This project was made possible by a grant from the Robert Bosch Foundation and the Reporters' Forum, as part of the Future of Science Journalism master class.