Living with Rett syndrome: Alja’s daughter is unable to express herself physically

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“Nova was about a year old when we found out that she was developing a little more slowly than her sisters had done,” says Alja. “She didn’t walk, she didn’t crawl, didn’t get up, didn’t babble … she was relaxed and content, but slow.”

Brain damage

At a certain point the backlog in the development of Nova becomes so striking that Alja and her husband go to a pediatrician with their daughter. “There we found out that something was seriously wrong,” says Alja.

A medical mill follows. After all kinds of tests, the doctor comes to the conclusion that there is brain damage. Later the term cerebral palsy is associated with this, a collective name for cerebral palsy. When after a while the pediatrician expresses her doubts about the diagnosis, Alja and her husband have a DNA test carried out on her advice. Nova is almost four years old when she receives her final diagnosis: she has Rett syndrome.

What is Rett syndrome?

Rett syndrome is a rare neurodevelopmental disorder, which in most cases is caused by a spontaneous mutation in a particular gene.

In girls it occurs in about 1 in 12,000 births and is much rarer in boys. In the Netherlands, 250 girls are known with the syndrome.

When a child with the syndrome is six to eighteen months old, a period of stagnation and deterioration in development follows, with loss of motor skills such as speech, walking and meaningful hand use. More symptoms, such as epilepsy, can be found on the site of the Dutch Rett Syndrome Association.

Source: Dutch Rett Syndrome Association

Not mentally limited

The syndrome causes a considerable physical disadvantage in Nova, now eight years old. “She can stand up by your hands or sit on her own for a short time, walks in a walking cart, but she can’t keep it up for long.” Nothing goes independently with Nova, although the girl is developing. “But those are really very small steps”, says Alja.

Nova cannot talk either, but Alja emphasizes that her daughter is not mentally disabled. “That has long been thought about this syndrome. But they cannot express it physically, while it is there. Cognitive,” Alja explains.

Speech computers are a solution for this. “There are girls who suddenly learned to communicate after years when they got a speech computer. So that perspective is there. Nova also has a speech computer, but that is something you have to train for a long time.”

Cheerful child

Alja describes her daughter as a happy and content child. “She likes it very quickly when you give her attention. She is good at making contact with her eyes and shows what she likes. She really likes contact with people. You can see that it makes her happy.”

But Nova also needs intensive care at any time of the day. Alja stopped working a few years ago because it could no longer be combined. “She goes to a daycare center a few days a week, but so much has to be arranged in the background. Contact with therapists, for example, and we have to go to the hospital regularly for check-ups or for her stomach tube.”

Impact on family

This has a major impact on the whole family. “If I don’t do it because I’m sick, my husband has to do it because there is no alternative. It’s just tough.” Her other daughters are used to it because they grow up with it, but it also impacts them. “You notice that things just go a lot easier with other families. We always have to think.”

Sometimes Nova goes to a host family for a day so that Alja can do something with her other daughters. “They also worry and get along with your concerns, and if Nova needs attention, you can’t always pay attention to the others,” she says.

Alja tells her story because she thinks it is important that people become more aware of the impact of Rett syndrome on an entire family. For that reason, the association has also renamed October Rett awareness month. “There is a lot of misunderstanding from people who have no idea why it is so complicated, or why you sometimes cannot attend a birthday. Also for professionals, a little more awareness would sometimes be good”, says Alja.





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