Experience stories


The 30-week ultrasound for our third child revealed a growth delay and additional checks showed that the blood flow in the umbilical cord was not optimal. This in turn gave rise to many additional checks. Our Milou came into the world at the end of December 2015. A little girl with lots of black hair on her body and a typical facial expression when she cried. Without realising what was causing this, we were happy that she was finally here and that she was "doing well".

...and that she "did well".

Now, almost a year later, we can happily still say that we are happy that she is here and that she is "doing well"!

Immediately after the birth, nobody gave a definite answer as to what they saw in Milou. The paediatrician on duty was familiar with CdLS and expressed her suspicion when we returned two days after Milou's birth to check the heart murmur. In the meantime, we had read about CdLS online by searching for Milou's external features and had already added up 1+1 ourselves. In that first period a heart echo was made easily and fortunately it looked fine. In the months that followed genetic research was started: Milou appears to have a mutation in the NIPBL gene. In daily life, Milou is a contented girl. For the first month, she drank from a bottle because she was always having trouble with breast milk and regularly spit up in large gulps. She did receive pumped milk, however, and after a month and some new attempts, she drank from the breast herself! As soon as this was more in line with her needs, she started to spit up less, but the supply dwindled to such an extent that we decided to switch to artificial milk. She continued to grow at her own pace and apparently did not need much. But after a while, it seemed that something was bothering her. We saw her occasionally stretching (over), with no apparent reason, tears in her eyes and at times she would often swallow or blow bubbles. The clinical geneticist advised us to have antacids prescribed and because Milou was drinking less and less at the time, we agreed. It had an effect, Milou was drinking more again. The discussion about antacids did not escape us either, but hardly eating or drinking seemed to us to be more harmful. If there is any other advice or experience, we would like to hear from you!

As a preventive measure, an ultrasound of Milou's bladder and kidneys was made. In terms of constitution and flow, everything looked good, but she did have a bladder infection. The antibiotics she was prescribed made more "broken" than we would have liked. Despite probiotics, her intestines were completely upset and her bottom appeared to be covered in fire blisters. She has never cried as much as during those weeks. When the cure was finally finished, she developed a fever. Our little one, who had just started to make herself heard and could already turn on one side on her stomach, suddenly did nothing since the cure and only slept. Needless to say, we were delighted when after a few weeks Milou could finally laugh again on a regular basis!

Our 'ukkepuk', who just started to make herself heard and could already turn on one side on her stomach, suddenly did nothing since the treatment and only slept.

In the meantime, an ENT doctor has taken a look, apart from narrow auditory ducts, there are no peculiarities. The eye doctor is also satisfied for the time being, although we will return in January for a more accurate measurement of the strength. Milou's hearing is difficult to test because of the fluid measured in her ears. It is possible that her hearing is insufficient to be able to develop speech at all, for example, but we cannot say with the current data.

Because eating can be problematic we have been in contact with a speech therapist since about 7 months. She has extensive experience with pre-logopaedics in relation to feeding and we quickly reaped the first benefits. Milou and we have benefited from tips such as: give her something to chew on (we gave her a silicone baby toothbrush), let her come to the food herself instead of bringing a spoon to her mouth, let her "eat" from a cup instead of a spoon, offer different tastes and structures. In the meantime Milou is enthusiastically "gulping down" all kinds of vegetable and fruit snacks and we dare to say that it is going really well. The antacids we have tried to reduce once, this seemed to go quite well but after about two weeks her will to drink / eat deteriorated and we started again with the antacids.

3 beautiful happy childrenApart from an interesting medical file, Milou is of course also just a baby/toddler. She can get angry when she thinks we are slow with her food or when she suddenly sees a back instead of a face. When she hears her big brother Stijn she starts looking for him and as soon as she sees him she usually gets a grin. Stijn is a sweet dedicated brother who likes to entertain his little sister and make her laugh, lovely to see. Now that Milou is a little bigger she also seems to have more fun with her sister Anne who often responds a little more enthusiastically than Stijn. Milou has been quite strong in her body from birth and can turn on her stomach on both sides (the first thing she tries when you put her down) and also rolls more often, accidentally or not, back to her back. She also seems to be moving around a bit and seems to find her "backwards". She smiles at acquaintances and at social events and can really laugh when she is having fun. She often makes happy sounds, even though they are not real sounds.

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Marloes Nijkamp - Sand
Marloes Nijkamp - Sand

We want to thank Marloes for sharing this story.

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Last modified by Gerritjan Koekkoek on 2021/11/11 11:43
Created by Gerritjan Koekkoek on 2021/11/11 09:43



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