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Jonte, 4 and a half years old
testimony of his mother Mareike

Our second child, Jonte, was born in September 2017 by scheduled Caesarean section and we are congratulated on all sides for our healthy son. Yet after a few weeks there is this unpleasant and frightening feeling that Jonte is special, different in some way, and – I had a hard time accepting this idea at the time – maybe handicapped.


Jonte doesn't really look at us, doesn't react to our voices, doesn't move much and seems very soft overall. When at four months he still has no head control, we start physiotherapy and introduce him to various doctors.


I'm scared, because I realize that I have no control over Jonte's health. I don't know what it means to us if he is truly disabled. What I miss is Jonte interacting with me and smiling at me. It's hard to get in touch with him. Then I see the little hand around my thumb. I see confident falling asleep after breastfeeding in my arms. I can calm him down when he cries. We find songs that we both like and then every once in a while he smiles directly at us. The uncertainty remains, the relationship and contact with my son is growing.


At nine months, Jonte then had a seizure. First brief tonic seizures, then grand mal, generalized tonic-clonic seizure lasting several minutes - Jonte can no longer react and his lips turn blue. The convulsion can only be interrupted with emergency medicine. In the hospital, he suffers from new convulsions. An MRI and a lumbar puncture are carried out, without result. His EEG, on the other hand, is pathological. We begin treatment with the antiepileptic Levetiraceptam. The seizures stop.


A follow-up EGG four weeks later revealed that Jonte had developed epilepsy. Our neurologist explains to us that in the event of developmental delay and epilepsy, it is necessary to start from the principle that there is a handicap. I don't want to hear his words and I prefer to cover my ears. Instead, I hug Jonte and cry silently.


The diagnosis of epilepsy scares me very much. And yet, it makes me little by little take a step closer to acceptance. Before, it was important to me that Jonte catches up with his developmental delay, that he becomes as "normal" as possible. Now, I think the most important thing is that he can be the child he is. Because once you've encountered the specter of epilepsy, you reassess the situation.


We are very lucky, because the medication that Jonte is taking seems to be effective: his EEG has not shown any abnormalities for three years. As we observe a few isolated days for signs of possible seizures, he is still taking levetiraceptam every day. He tolerates it well and has no side effects.


When Jonte is 12 months old, we are advised to do a genetic analysis as a trio (the child and the two parents). After a long wait, we receive an unexpected result with a diagnosis: a de Novo, missense, change in the MYT1L gene which has not yet been described in the specialized literature. There are 13 other people known to be affected worldwide. Jonte was 18 months old at that time. In the short term, I'm horrified by what I see as an injustice and the finality of the diagnosis, but then I'm relieved. I haven't done anything wrong or overlooked - there's a reason why Jonte isn't developing normally.


Since the diagnosis, we have stopped comparing our son to other children or relying on official milestones.


Jonte is cognitively very affected. Despite this, we celebrate many developmental milestones, big and small: he's bunny hopping, he can sit up, he's crawling up stairs. He cannot stand or walk freely. For some time he has been pulling himself up and can take a few steps with great support. We firmly believe that he will learn to walk. At the age of three and a half, he received a wheelchair. He can drive it on his own and show us where he wants to go (preferably watch the commuter trains or go to the ice cream shop).


He has a very poor understanding of language and cannot speak. He says "Mom" to my delight, but he doesn't always refer to me. He can nevertheless say clearly whether he likes something or not. We work with assisted communication (initiation to communication, pictograms and photos) and gestures. In the meantime, he chooses the cereal he wants to eat or the song his big sister should sing to him. However, it is up to us to recognize all his needs and he is very dependent on us and other trusted people.


Jonte is able to wave, wave, kiss, hug and clap. He loves all his family and shows this love; he loves music, water, his keyboard, his "Hörbert" and the washing machine. And especially the vacuum cleaner.


In terms of feelings, he is sometimes very impulsive and his mood is very fluctuating. We observe more and more so-called defiance behaviors, for example, he bites his hand or bangs his head against the ground in the event of great stress or frustration. So far, fortunately, we usually get him out of this state quickly by talking to him softly, distracting him, or preparing him for the situation.


Since Jonte was two years old, he has been going to a regular kindergarten and does most of his therapy there: twice a week physiotherapy, once a week speech therapy and once a week pedagogy. -therapy. In the meantime, he has integrated very well into his group and he obviously likes it.


As aids, he has lower leg braces, the "Mio" children's wheelchair, a "Todd" standing trainer and a "Madita fun" for sitting.


Jonte's body mass index (BMI) is correct. He's a relatively tall kid, but he's not officially overweight. He loves to eat, but stops, he definitely has a feeling of satiety.


Jonte has slept well and happily since birth. Certainly, he does not sleep alone, but with us in bed. On the other hand, he sleeps all night without waking up. Jonte currently has level of care 3 and an 80 percent degree of disability.


My husband never doubted our ability to cope as a family. We take care of Jonte together, on an equal footing, and we got to know each other again from a completely different angle.


It is with pride that I observe my daughter who makes Jonte laugh to be close to him. Who confidently pushes his wheelchair and tries every way to find out how he feels. Who scolds him, because he should not receive favors "just because he is handicapped". But who then reminds me with empathy, in my moments of fatigue and impatience, that Jonte cannot do better.


It is with pride that I look at Jonte, who must try so much harder than the others. Who perceives our world with his senses in a way very different from mine and yet does very well in most situations. Who teaches us a lot about life. Who can rejoice in so many little things in life. It is now easy for me to say that Jonte is a child with severe multiple disabilities. He is so much more and he makes love easy for us.


Of course, we also worry about everything that lies ahead. Often, worries are drowned in our tumultuous daily life and our love. But they still catch me from time to time. Overall we are doing very well. If someone had told me then what it was like now, I would have worried less.


When his three-and-a-half-year-old sister asks us if she or we, his parents, are also disabled and we say no, she asks us why – why is Jonte disabled? We are looking for an appropriate answer: is it an unfortunate coincidence, just bad luck? I remember Jonte's physiotherapist always saying that Jonte had chosen us as family. Actually, I don't believe in fate, but I like to think that's exactly what happened.

April 2022

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