What's the worst part about being thirteen

Children with trisomy 13 and 18 : Declared dead

Your daughter is too small, ”said the doctors when Renesmee was born on April 23, 2013. After that, hardly a day goes by without bad news. “The cerebellum should be bigger,” they explain to the mother, Jenny Schläfer. It controls many movements and is important for balance, perception, pain or hunger. “The girl has a heart defect.” The position of her fingers indicates a serious genetic disorder, a trisomy 18. Two weeks later, a karyogram, a pictorial representation of all chromosomes, brings certainty.

The diagnosis comes as a shock to the 33-year-old from Rhineland-Palatinate. Your husband suppresses the truth, he doesn't want to talk about it. It is Schläfer's seventh child. Only one, her sixth, had a bowel malformation at birth. That could be corrected in one operation. Since then, everyone has been fine.

Renesmee, on the other hand, cannot breathe or swallow. In the intensive care unit of the West Palatinate Clinic in Kaiserslautern, the nurses connect the little girl to probes and cables. Again and again the mother hears: “The child is dying. They won't get that home. ”Nobody encourages her.

In trisomy 18, one chromosome in the genome is not double, but triple. The disease occurs in 1 in 6500 births. The cause is an accident: During the egg cell's meiosis, chromosome 18 is not separated as usual. If it is later fertilized by a normal sperm cell, this chromosome is now present in triplicate. The error is passed on with every further cell division (free trisomy). The older the mother is, the more often this happens.

Sometimes part of the third chromosome attaches to another (translocation trisomy). And sometimes the mistake only happens after the egg has been fertilized. Then some cells have a normal set of chromosomes, others a trisomy (mosaic trisomy). Chromosome 13 can also be affected. Much better known and more common is the tripling of chromosome 21, Down syndrome. But in contrast to trisomy 21, doctors and nurses do not give children with trisomies 13 and 18 a chance.

Only those who know all the facts can make an informed decision

The numbers speak a different language. Although the children survive on average just 2.5 to 14.5 days, most of them never see the light of day. But one in twelve children born alive with trisomy 18 or 13 will live to be more than a year old. “You have to tell your parents that,” demands Anna Springett from Queen Mary University of London. This is the only way you can make an informed decision. In 2013, Springett published the largest study to date on the subject in the American Journal of Medical Genetics. They included 326 children with trisomy 18 and 142 with trisomy 13.

Nansi Boghossian of the US National Health Institutes in Bethesda confirms this: "Some are alive, they will be 12, 13, 18 years old." The American trisomy 18 specialist John Carey of the University of Utah knows fifteen children with trisomy 18 over ten Years. Fourteen are girls.

There could be more. Because almost all doctors currently advise against life-prolonging measures in the case of trisomy 18 or 13 based on the textbook prognosis. Many parents follow this recommendation. "You decide against medical help so as not to interfere with your fate," says Bernt Schulze from the Center for Prenatal Medicine and Human Genetics in Hanover. "The children usually fall asleep after a few hours or days."

Jenny Schläfer doesn't want to let nature take its course. She fights against the death that beset Renesmee all the time. Her daughter has been wired in the intensive care unit for seven months. Sleeper can hardly stand the sight and wants to get the little one home as soon as possible. That is why she advocates that her child get a nasogastric tube and a tracheotomy so that they can breathe and be fed without equipment. “The doctors were vehemently against this operation,” she recalls. “You tried to talk us out of it to the end. You would do that with a healthy child. But Renesmee shouldn't be tormented unnecessarily. "

The mother found more and more survivors on Facebook

Trisomy 18 specialist Carey knows these arguments. Medical help is denied in the case of supposedly fatal diseases. If the parents insist that everything should be done for their child, lifetimes skyrocket. He demands that the parents, and not the doctors, should make a decision after having been thoroughly informed. He considers the "unnecessary agony" to be a protective claim: "Children with trisomy 18 suffer no more or less than others."

Renesmee lives and lives, she is now over a year old. Sleeper founds a Facebook group for trisomy 18 children and comes across dozens of survivors. Through contact with other parents, Schläfer remarks: "Every child is different." They are all just small, they develop with a delay. Quite a few chuckle and laugh spontaneously, but do not react to a smile or a speech. Some learn to sit up. Very few people can walk and speak. One has no diaphragm, another just a kidney. The disabilities are most severe with a free trisomy, because then every cell produces superfluous proteins that can mess everything up - as with Renesmee.

The girl has a malformed jaw and facial bones. Therefore, she cannot breathe through her nose on her own and can hardly swallow. The heart defect, which up to 90 percent of trisomy 18 children have, soon grows out in Schläfer's daughter. While other children often have kidney abnormalities, their organs function normally. A doctor checks this every week.

Most parents choose to have the pregnancy terminated

How long this life can last, nobody knows. Birth weight, gender, the extent of the organ malformations, but also whether a child is artificially fed or not, whether it grows up at home or in a clinic, determine what its chances are. The heavier the baby at birth, the better. Girls are more likely to survive than boys. The less the heart and kidneys are attacked, the cheaper it is for the delicate body. There is no reliable forecast. The capers of the statistics astonish trisomy 18 experts again and again. One thing is certain: the children are very severely disabled.

A characteristic finger position is often noticeable in the prenatal ultrasound images. The index finger is over the middle finger and the little finger is over the ring finger. The arch of the foot is flat and the heel protrudes - experts describe this as rocker-base feet. "The parents are then almost always told that trisomy 18 is fatal for the unborn baby," says Boghossian, who specializes in congenital genetic defects. This is confirmed by a survey of 332 parents of the Canadian obstetrician Annie Janvier from the University of Montreal. 87 percent of the parents of children with trisomy 13 or 18 were told that the malformation was “incompatible with life”.

It is no different in Germany, says Schulze, who has been working in prenatal diagnostics as a human geneticist for decades. “The parents then know that their child will die anyway. This is difficult to cope with at first. Then it becomes easier because the decision is, so to speak, taken out of their hands. ”Most of them terminate the pregnancy, he reports. There are no official statistics on this.

Advising pregnant women is a balancing act

Half of more than a thousand obstetricians from England, New Zealand and Australia also classify trisomy 18 as fatal. 95 percent indicate the possibility of termination, writes the obstetrician Dominic Wilkinson of the University of Adelaide in the "Journal Prenatal Diagnosis".

A number of malformations fundamentally change the life of parents, siblings and the affected child. "But very few are immediately fatal, for example if a child has no kidneys at all," says Andreas Hagen, who specializes in high-resolution ultrasound diagnostics in a Berlin prenatal center. For example, with an “open back”, most children have a normal life expectancy but sit in a wheelchair. People with Down syndrome can live full lives too, not least because cardiac surgery has made tremendous advances. A few decades ago it was believed that children would die before starting school. Today they are given comprehensive help when the mother carries the child to term.

Advising pregnant women is a balancing act. “Very difficult,” says Hagen. “You know that you have to tell this woman the truth in anticipation. Then many tears flow. You're sorry about that yourself. ”Of course, you have to explain the range of possibilities to your parents. But at the moment of diagnosis, they are often not able to process what they have heard. “They sit in front of you, rigid and aghast, and you can tell that they just want to get out. Some of them are really angry with you. ”Hagen then invites you to another interview and makes contact with self-help groups and specialized doctors for you. And he recommends psychosocial counseling, to which they are legally entitled, in order to make an acceptable decision.

A child as a case for liability insurance

Schulze gives another reason why he prefers to give the parents no hope: "There is a risk that the health insurances will interpret this as a treatment error if the disabled child is alive and they will get the money from our liability insurance." The insurance company argues then, the doctor would not have given sufficient information about the consequences of such a trisomy. Therefore, the parents would not have aborted the sick baby.

The result is that the premiums for liability insurance for gynecologists, obstetricians and prenatal diagnosticians are constantly increasing. For example, the R + V insurance company terminated the contract for a medical care center because it classifies prenatal diagnostics as particularly risky. Other German insurers are demanding seven times the previous premium, writes the "Deutsche Ärzteblatt". Hagen adds that some of his colleagues can no longer find any insurance. The new patient rights law really encourages parents to sue doctors with the help of their health insurance in order to finance the high costs of maintaining the disabled child. Schulze puts it drastically: “Every hereditary child who is not born is one less possible liability case. That worries us and takes away the freedom of neutral advice. "

Jenny Sleeper never had to think about aborting. Her doctors found the heartbeat and growth of the fetus noticeable before the birth. There was never any mention of a severe malformation or a trisomy. "Even if I had known beforehand, I would never have had an abortion," she says today. Although everyday life is not easy.

The maintenance is more difficult than expected

At over one year old, Renesmee lies in her crib like a six-month-old baby. She can't lift her head. Sometimes she suddenly laughs, then her face is still again. She can swallow two or three spoons of porridge, but most of it feeds her sleeper through the nasogastric tube. She lies awake half the night next to her youngest. “It's so hard to know what's best for you. She can't show it, ”says the mother. She is always worried that her daughter will die. And they exist, the days when they struggle with their situation. Renesmee had a high fever at Easter. Again she had to go to the hospital. Nevertheless, Sleeper is happy about every day with the little one.

She is not alone with these mixed feelings. In Janvier's surveys, half of the more than 300 parents said that caring for them was more difficult than expected. But almost all - 97 percent - say of themselves that they are happy and grateful for the sick child. However, these respondents probably made a conscious decision to have their baby.

Jenny Schläfer is angry with the doctors. At the same time, she is in a similar dichotomy. When she writes to pregnant women in the Facebook group that boys usually die quickly, the women concerned break off contact: “No mother wants to hear that her child will only pant three times.” Sleeper no longer says what she knows. She doesn't want to deliver sad news.

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