The pediatrician called during the swimming lesson: ‘Marie (9) has the rare Rett syndrome’

Judith (41), married to Matthijs (42), mother of Isabelle, Marie and Jules.

“The pediatrician called when I was at our oldest daughter Isabelle’s swimming lesson. As I walked away from the other parents, she said right away, “It’s what I suspected, Marie has Rett syndrome.” Whatever else she said passed me by. I got emotional, but also felt relieved. Now we finally knew why she isn’t as easy as the rest. Many months had passed. Rett is a rare neurodevelopmental disorder in the nervous system that primarily affects the brainstem, causing development to stop.

“That’s when I realized she was going to take a different path in her life.”

We were allowed to come to the pediatrician’s office the next morning, so that she could explain everything about this disorder to us. I immediately called Matthijs. Until then he had hoped that there would be something milder with our girl. I also called my parents, which felt like bad news. Pretty crazy, because Marie is Marie and I love her just as much as we love our other two children. Marie is the middle one, she was three years old then. It was then that I realized that she was going to take a different path in her life. But I didn’t really have time to do that. I was standing there with our son Jules, who was still a baby, and Isabelle in her bathing suit, she was five.

Need more time

Marie was a perfectly healthy, calm baby. Before we suspected something was wrong with her, I thought she just needed a little more time to develop. I did notice that she did this at a different pace than her sister, but she did well on certain tests at the health clinic, such as stacking blocks. That’s why no alarm bells went off there.

My father-in-law was a general practitioner at the time and at a certain point he noticed that Marie has sagging feet. For this we went to a pediatric physiotherapist. When Marie started walking just before her second birthday, we thought her speech would follow. But that didn’t happen. My father-in-law also had no idea what was going on, but was quite firm in his advice: look into this further.

Rett syndrome

We didn’t get much further in our own regional hospital, we were soon referred to the Radboud Hospital in Nijmegen for genetic research. At that time, Matthijs and I were not so concerned. We are both quite sober, went along with the investigations and would see what came out. It didn’t define our lives.

“I didn’t recognize Marie in the violent images.”

When we sat down with the pediatrician to discuss the results of the genetic test, Marie was with us. And while the doctor said that nothing had come of that examination, she noticed that Marie was constantly fidgeting with her hands. Apparently that’s typically something Rett kids do. The doctor therefore suggested that more in-depth genetic testing be done on Marie and both of us. At home we searched YouTube for videos of children with Rett syndrome. We were shocked. I didn’t recognize Marie in the intense images of handicapped girls.

clarity

In the seven months that we had to wait for that second result, I somehow paid more attention to her. Marie did walk, did not speak and fiddled with her hands all day long. She never actually played. She immediately threw toys into a corner and at times she could be very absent. We wanted nothing more than clarity about what was going on, but we also didn’t want to label her. On the other hand, I know that with the name of a condition you can get things done faster in care land.

The day after the phone call in the pool, we sat across from the doctor without Marie. That is a sweet, warm but above all honest woman who calmly explained everything to us. Typical of Rett, a disease that mainly affects girls, is that a child develops normally for the first few months and can then lose more and more functions. It is not hereditary, something has gone wrong in the predisposition, there is no medicine for it.

On the advice of the doctor, we went with Marie to the Rett expertise center in Maastricht. One of the best specialists in this field looked at her there. He said: ‘Include her as much as possible in your normal family life’ and called her ‘a good Rettje’. On paper, she should have been worse off by now.

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Stand still for a while

Marie forces us to literally pause in life every now and then. She does not walk far and not long. If I’m in a hurry, I can put her in a big buggy. Mom says them almost daily and Dad about once a month. She also babbles like a baby does. I can hear from her sounds whether she is excited and happy or angry. Very primitive, but I do understand her.

She grinds her teeth, which is also typical of Rett. She is not toilet trained, I can now change while standing. Although she sometimes keeps her legs tense. A little tickling always helps. Sometimes she stops breathing. This is due to the dysfunction of the brain stem. Then you see her thinking: how is that breathing again? And then she picks it up again.

Few words needed

She is in special education in a class with three children. There she learned to control a speech computer with her eyes. She can now make sentences of two words. A personal counselor takes care of her two afternoons a week and I have my hands free for Isabelle and Jules.

“Other children sometimes come and ask me why Marie doesn’t say anything, they think that’s crazy.”

Marie likes experiences, being outdoors, feeling the wind, sun and water. I don’t lose sight of her for a second, wherever I am. If she gets to a trampoline playground and is thirsty, she can walk over to any table and drink from someone’s glass. We have a tandem so she can pedal along, which is good to keep the muscles flexible. She likes to be on such a big air trampoline, surrounded by other children. They sometimes come and ask me why Marie doesn’t say anything, they think that’s crazy.

Recently a little boy sat down next to her and asked: ‘What is your name?’ Marie can’t say that, she answered him with a kiss on his cheek. Such a pure moment. He was happy with it. Sometimes few words are needed.

Different from other kids

I was recently in the Efteling with Isabelle and Marie. That was a relaxed day; with a special card we got priority at all attractions. But actually it took Marie just a little too long. She started to whimper, which makes people look at us and then Isabelle thinks we’re embarrassed. I get that, it’s like Marie becomes an attraction in an amusement park. As we got closer to the exit, Marie calmed down. Then she knows we’re going home.

“It’s a living loss: always accepting that she’s different from other children.”

It doesn’t frustrate me that Marie has Rett syndrome. Sometimes I feel bad for her. I call it living loss: always accepting that she is different from other children. What is normal for her brother and sister will never be an option for Marie. But Marie doesn’t know what she’s missing and falls asleep with a smile every night.”

This article appears in Kek Mama 13-2021.

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