Not down at all! - Do we have to count chromosomes?

Due to my job as a special education teacher, I probably know an above-average number of people with Down's syndrome, a genetic defect called trisomy 21, which is generally associated with physical and cognitive developmental delays. Children and adolescents, meanwhile also many adults at my age and significantly older, because the life expectancy of people who are often born with a heart defect has - thanks to modern medicine - been considerably extended within the last 40 years.
How many people with Down's syndrome do you know personally or have you seen them "live"? No chance? No problem, this is "normal", because - "thanks" to modern medicine - there are fewer and fewer people affected by trisomy 21. Whereas 25 years ago we had at least one "quota downie" at our school with about 150 pupils in each class, today we count exactly three children with this disability with approximately the same number of pupils.
No, trisomy 21 is not curable. In Germany about 9 out of 10 fetuses are aborted after prenatal diagnosis of the genetic defect.

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Trisomy 21, the syndrome first comprehensively described by the British physician John Langdon Down in 1866, which was previously referred to as "mongolism" due to the often slanting eyes without a clear crease of the eyelid, is a gene mutation of the 21st chromosome. This chromosome is depicted in three places instead of twice in the human genotype "regular".
Since about 50 years the gene anomaly described has been detectable before birth by amniotic fluid examination, which is associated with the risk of miscarriage. This examination, in which amniotic fluid is removed from the uterus of the expectant mother with a cannula through the abdominal wall, has been standard in Germany since 1975 for so-called high-risk pregnancies. For about ten years now, Down's syndrome can also be diagnosed via a complication-free blood test. In Germany, pregnant women have had to bear the costs of about 150 € for this themselves.

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On 19 September of this year, the German Bundestag (parliament) decided that the statutory health insurance funds would assume the costs for the non-invasive blood test from 2020, due to the high quality of the tests, following the design of an explicitly open-ended consultation brochure.
With the entry into the Bundestag the discussion about prenatal diagnostics, which has been conducted for decades on ethical, moral, religious, medical, social, educational and also economic level, is again in full swing. In short, the proponents welcome an extended freedom of choice for expectant parents; opponents now fear even stronger selection, since the prenatal diagnosis of a disability in most cases goes hand in hand with euthanasia. Yes, that's how a preventive abortion is called worldwide, only in Germany is it difficult to use this term for known historical reasons.

The discussion is very extensive, the arguments of proponents and opponents of prenatal diagnostics are usually easy to understand. Of course, living with a child with a disability can be very fulfilling, but at the same time it holds many unexpected challenges. This is why it is so difficult to provide value-neutral consultation, to which all instances that can professionally support an expectant mother in her decision are obliged. To become personal here, I claim that one of the reasons, if not the only one, why I am grateful for never having become pregnant despite a strong desire to have children, is to never have been put before the decision of an abortion after prenatal diagnosis.

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The early, quite serious decision for or against a child with a disability lies solely with the pregnant woman. Therefore, the decision to include the blood tests in the catalogue of health insurance benefits is the only correct one. The medical-technical achievements of the last decades cannot be reversed, the possibilities of a prenatal diagnosis exist. In my opinion, it would be unfair to provide a risk-free examination only to women who can afford it, because that would also be selection - if not life and death.

With the now decided assumption of costs, the debate about diagnosing disabilities before birth is far from over. And as long as a disability is still regarded as a flaw in our society, it will never be over - despite any inclusion efforts by the EU!

Finally, I would like to release you with a good-tempered music video of the British club "Wouldn't Change a Thing" to the title Shine by Take That from the in my opinion not really easy to digest topic.

Originally conceived as a Father's Day project, the idea of designing the video "Dads Don't Count Chromosomes" grew into a professional production, since the fathers, who "only" wanted to show that they loved their children with Down syndrome, who radiated so much joy in life, as much as their mothers, could acquire Paramount Pictures to support them.

We knew we’d never be able to match the mums’ ability to tug on the heart strings of the world so we went for some good-humoured competition instead! Dads who have children with additional needs are extremely under-represented and under-supported in this world and play a huge part in advocating for our children. We wanted to take the opportunity to shout from the rooftops how much our children are loved and welcome in our lives and how, just like the mums, we wouldn’t change a thing.

^{Jamie McCallum, Project Manager}

If you like, you can now take a look at who the dads entered the competition with. To the supporting music of Christina Perri (A Thousand Years) "50 Mums | 50 Kids | 1 Extra Chromosome" by the mums seems a bit more pathetic, but is also (even more) successful as a pioneer with over 6 million YouTube clicks.

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The gestures used in both videos come from the communication and language promotion approach MAKATON®, a possibility of supported communication. In contrast to international sign languages for the deaf, which also have grammar, the MAKATON® approach emphasizes only a defined core vocabulary through sign language. This facilitates language acquisition for children with limited cognitive abilities. Words, which are nothing else but abstract phonetic signs, are concretized by recurring gestures, thus understood and internalized more easily.
In the support centre, where I work, the use of these gestures is part of the school program - pupils and teachers are more or less consistently endeavored to integrate the communication possibility, which is supported by agreed hand signals, into the daily lessons.

German original posting translated with www.DeepL.com/Translator.

Pictures and videos with many thanks from Down's Syndrome Association, Besser gesund Leben, Menneskeverd and DSA of Greater Charlotte as well as #wouldntchangeathing on YouTube.

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2019-10-22

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