«Moderately helpless»: Our everyday life with Maél and trisomy 21

For the third time this morning, I asked Maél to put on his shoes and get ready for school. His school bus stops in front of our house every day at 7.45 a.m. on the dot. Maél attends the third class at the curative education school in a neighbouring village.

Finally, he sits down on the chair by the cloakroom and picks up a shoe. When he's finished, I realise that the left shoe is on the right foot - and vice versa. When I ask him if he did this specially, Maél gives me a mischievous smile.

A few minutes later we hurry outside - I've put his shoes on properly in the meantime - and the bus is parked with the engine running. I help Maél get in and fasten his seatbelt. We kiss through the window. Maél is beaming. He will return home either at lunchtime or later in the afternoon.

«All happiness,» my son sometimes says to me and presses a big, wet kiss on my cheek. An indescribable feeling. For me, there is so much gratitude, love and also confirmation in this sentence and gesture that we parents are doing a lot of things right with our «special» child.

That darn 47th chromosome

The fact that our older son has 47 chromosomes instead of 46 affects his appearance as well as his mental and physical development. He resembles other boys with Down syndrome more than he resembles his six-year-old brother Elias or us parents.

Its head circumference is smaller, its nose flat. The typical eyelid crease around the eyes gives it a slightly Asian flavour. His muscles are less strong than those of normal children. This so-called muscular hypotonia is also the reason why Maél only learnt to walk when he was almost three years old.

Our son has good gross motor skills: He loves playgrounds with climbing frames, rope courses, slides and swings. As a four-year-old, he learnt to ride a micro scooter. He later discovered the balance bike and has been travelling on his bike for about a year and a half - albeit still with training wheels. This enables us as a family to go on short trips in the neighbourhood.

In terms of fine motor skills, Maél's developmental delay is significantly greater compared to children without trisomy 21: holding a pen correctly or cutting with scissors are things that Maél finds difficult and avoids as much as possible. Instead, he uses the tablet with its games and apps with ease.

A turbulent start for everyone

After a problem-free pregnancy, Maél was born on 1 April 2009 at 1 pm. He had to be delivered by emergency caesarean section because his heartbeat had dropped. After I had welcomed my baby, a paediatrician stood nervously next to me: Maél had turned a little blue and needed to be examined more closely.

The diagnosis of trisomy 21 hit us like a bolt of lightning. I reacted with despair, my husband with anger.

Nobody mentioned the diagnosis of trisomy 21 yet, but then I was told that Maél had to be transferred to the neonatal unit of a larger hospital. It took over 24 hours before I was also taken to the same hospital. Finally, my husband and I were standing next to the incubator. Naked, with a feeding tube, oxygen tube and a neonatal rash, our baby looked pretty battered. Maél had to be hospitalised for a long time due to adjustment disorders.

The diagnosis of trisomy 21 hit us like a bolt of lightning. While I reacted with sadness and despair, my husband became angry. I had dealt with the issue of Down's syndrome during the pregnancy. But the first trimester test, which showed a risk of 1:1600, gave no reason for further prenatal investigations. The nuchal fold also appeared unremarkable in the ultrasound. And now, in one fell swoop, I had become the mother of a baby with trisomy 21. That was right.

In the months that followed, I often asked myself whether it would have been better if we had known during the pregnancy. A question that is very difficult to answer. And it soon ceased to play a role for us - Maél had arrived and we gradually came to terms with the situation.

The news that we had become parents of a disabled child triggered numerous questions in us. Will we be able to cope with caring for and looking after our child? How will a child with Down's syndrome develop? How will the friends and acquaintances who had been looking forward to our baby with us react? The carousel of thoughts went round and round. I couldn't sleep, was tearful and thin-skinned.

The first few months at home with Maél were characterised by the fact that he drank very badly. When he was three months old, I was allowed to do physiotherapy with him. When he was six months old, we started early remedial education: a remedial teacher visited us at home every week to develop Maél's skills.

The early education lasted until the child started kindergarten. Starting the therapies gave us parents the feeling that we could finally do something for our child. Gradually, however, we noticed that Maél was crying more and more. He now completely refused to drink.

Great luck with health - and yet a regular at the clinic

As we sat in our paediatrician's treatment room with our packed bag, she registered us at the hospital - where Maél had to be admitted as an emergency and fed via a feeding tube. His oesophagus was completely inflamed and he had developed reflux disease. Maél still takes gastric acid blockers every day.

Otherwise, we are very lucky that Maél is organically healthy. Children with trisomy 21 often suffer from heart defects or malformations in the intestinal tract. In the first four years of his life, Maél was nevertheless a constant guest at the paediatric clinic. He sometimes suffered from severe respiratory infections, required oxygen and had to be artificially fed. His traumatic experience with reflux meant that he refused to eat whenever he had an infection.

As a small child, Maél could not express hunger, pain or tiredness, it was a constant guessing game for us.

In addition to the many hospital stays, the first few years until he started kindergarten were determined by his therapy plan. In addition to early education and physiotherapy, speech therapy was added twice a week from around the age of three. Maél received tympanostomy tubes in his eardrums for the first time at 14 months. This improved ventilation in his ears and helped him to hear better. At the age of two, he started wearing glasses, which fortunately doesn't bother him. Problems with eyes and ears are common in children with Down's syndrome.

Maél was difficult to read or understand as a small child. He couldn't express hunger, pain or tiredness, it was a constant puzzle for us. At the age of two, he still didn't speak a word. But we had the impression that he understood well what we said to him.

Underestimated intelligence

Our remedial teachers told us about the sign language collection «When I can't find the words» for cognitively impaired people by the Swiss remedial teacher Anita Portmann. The gestures for eating, sleeping, playing, going outside and all the farm animals were the first terms we taught Maél at the age of two and a half. At first, he still found it difficult to perform the movements with his hands. But he was finally able to communicate!

In the second year of kindergarten, Maél learnt to speak in two- and three-word sentences with the help of pictograms. Today, he expresses himself without any aids. Children with Down's syndrome often have an overlong tongue and a narrow mouth. Both are not exactly conducive to pronunciation, and this is exacerbated by slack mouth muscles. Maél's vocabulary is many times greater than he is able to express himself verbally. His intelligence is therefore often underestimated.

Maél needs support in many areas of his everyday life. Disability insurance categorises him as «moderately helpless» and has been paying helplessness allowance since he was two years old. A person is deemed to be helpless «if they permanently require the assistance of third parties or personal supervision for everyday activities due to health impairment». The amount of the benefit depends on the degree of assistance and is categorised as low, medium and high.

Everyday life with Maél requires us parents, but also all other carers, to be constantly present. Maél is not yet able to go to the toilet, take a shower or get fully - and properly - dressed or undressed within a reasonable period of time.

Maél has a habit of running away. He therefore wears a badge with his name and telephone number on it.

He must always be kept an eye on, especially in play areas or other public places. Unfortunately, he often behaves aggressively towards other children. Because he still refuses to eat solid food, we have to puree all his meals or prepare them especially for him. It took years before he was ready to spoon up his own porridge or muesli.

And Maél has a habit of escaping. If we're lucky, on foot; if we're unlucky, by bike or scooter. He recently managed to turn the key in the front door lock for the first time. He now wears a silver chain on his wrist with a badge engraved with his name and our telephone numbers.

The school has become his second home

From the very beginning, I took Maél to the family centre in our home town. He had contact with other «normal» children there up to three times a week. For me as a mum, who was constantly plagued by despair and fears about the future, the centre was also a good opportunity to socialise.

Before starting school, we weighed up the pros and cons of integration into a mainstream school and special schooling. For us, the focus was always on our son. In the end, we enrolled him at the special needs school. We have never regretted our decision; the school has become his second home.

Long-standing acquaintances withdraw

When we informed those around us about our child's disability after Maél's birth, the reactions were varied. Many simply didn't know how to react to such news. For example, whether they should congratulate us (yes, they should). Some long-standing acquaintances withdrew. Even today, the most frequently asked question is: «Did you know beforehand?»

When we are out and about with Maél, the reactions are almost exclusively positive. Children in particular respond well to him. Adults, on the other hand, can be quite annoying. By staring and whispering. Fortunately, this rarely happens. Or maybe I don't even notice it like that any more. To put it somewhat casually, trisomy 21 has the advantage that you can see the affected person's handicap at first glance.

When our second son Elias was born on 20 April 2011, our happiness was perfect. Of course, the question of what would happen if our second child was also born with a handicap was raised early on. However, as Maél does not have a hereditary chromosomal abnormality, the risk of having another baby with trisomy 21 was not increased.

At first, Maél was quite jealous of the new family member. He often maltreated his little brother and pulled out tufts of his hair. But like so many things, this phase also passed. The brothers gradually got used to each other. Elias soon learnt to defend himself. He quickly overtook his older brother in terms of development and was already speaking in full sentences at the age of one and a half. The two of them found ways to communicate with each other, to play and have fun. They are a particularly good team when they want to annoy us parents together.

No two children are the same

Elias likes to hang out with his mates. We have an open house, the children can come and play with us whenever we are there and have time. Most of them realise that Elias' brother is special. Elias is good at explaining this.

When a child in a playground once said that Maél was «funny», Elias replied: «Dä Maél isch eiflich de Maél.» He was about four years old at the time. The only thing that bothers him is when he thinks we parents look after his brother too much. But we make sure that our youngest doesn't miss out. Whenever possible, we have a separate programme.

What does Maél's future look like?

As a mother, it was and is important for me to know that children with trisomy 21 are even less comparable to each other than so-called normal children: the heterogeneity of people with trisomy 21 is enormous. Some learn to speak almost normally as a child, others do not find their way to spoken language for the rest of their lives. Some develop a high degree of independence, others need lifelong support.

How does it come out with our son? As Maél, who is basically a well-adjusted child, has increasingly frequent phases of very challenging behaviour, we are currently having him assessed by a child psychiatrist. But when I'm with Maél, I'm able to put these and other problems to one side and enjoy the moment with him - he gives us parents a lot in return.

We do not set ourselves unattainable goals. But that doesn't mean that we don't expect anything from him. We are happy about every step forward, no matter how small. When Maél can pronounce a new word. When he finally puts his shoes on properly. Maél is making his way, simply in his own way and at his own pace.

«All good luck,» says Maél. And once again brushes aside all my doubts and worries.