My gut feeling was right: little Noé had a rare condition...

January 25, 2018, our girl was born

But in the days that followed, I quickly developed a feeling that something was off. I saw something, something I couldn't quite put my finger on.

Noé came into the world. She was small (very small), at least that's what I thought compared to her brother. 2560 grams and 46 centimeters with a gestation of 37+5. She struggled, and needed some time to recover. After that, she was placed on my chest. I remember that moment so well. I looked at her and was startled. Not because I saw something wrong with her, but I had a feeling. A feeling I couldn't place. "It must be the hormones," I thought.

It was a very different birthing experience than the one with our son

Noah had a lot of trouble and was weak. I could pick up our little boy whenever I wanted, but Noah was different. She lay in her crib with extra blankets and double hats, and we only took her out for feeding because of the difficulty she had maintaining her temperature. In the following days, she became increasingly lethargic, drank poorly, slept more and more, and became increasingly jaundiced. By day 4, they came to take blood samples, and as we suspected, Noah had a high bilirubin level. I had to get out of my postnatal bed and start packing. I cried so much, but this was just the beginning. Once we arrived at the hospital, she was quickly placed in an incubator, a feeding tube was inserted, and the lamp above the incubator was attached. After two days, the lamp was removed, and after four days, she was out of the incubator. The feeding tube was removed on the last day. After seven days in the hospital, we were allowed to go home. We were so happy, for a little while, because soon things were not going well again.

At home, we've been fretting for literally two weeks

Every meal came out with rays. She couldn't keep it in. So she didn't gain weight either. I went to the consultation clinic during the walk-in hours to weigh her and Noé had lost weight. "You must go back to the hospital," they said. That same day, Noé was readmitted. This time for six days. They had taken an X-ray and saw that there was stool stuck. This would explain why she kept throwing up everything. "Okay," I thought, "I can understand that. Could this be it?" She received help with her bowel movements and the following days went a bit better, so also a reason not to have to stay longer. Happy, of course, because can we now continue to enjoy our pink cloud?

The months that followed were still heavy and intense

Noah still had trouble drinking and often choked. We also had special nutrition and something for her intestines, but it all remained very difficult. At six months, we went back to the consultation bureau. A heart murmur was heard, but we already knew it had been there from the start. It had also been heard those two times in the hospital. They sent us to a pediatrician who specialized in cardiology, and it turned out: Noah had a congenital heart defect, an ASD, which was a hole between her atria. We were referred to the Sophia hospital. There, an ultrasound was done and indeed it was confirmed again that she has an ASD. Something they wanted to keep under control. We had to come back in six months.

The months that followed, everything continued to be difficult

We kept wondering what was going on. Physiotherapy was called in, as well as speech therapy and a dietitian. The physiotherapist came to our house every other week, such a nice lady. She gave good tips and thought along with us. She made extensive reports for the pediatrician, the consultation bureau, and the like. Based on that, we were referred to neurology. We had a 2-day admission. An MRI scan was made of her little head (this because her head remained very small), the ophthalmologist wanted to see her and blood and urine were taken for tests. The result of the MRI scan was good. There was nothing wrong, nothing to see. Based on the evaluation of two different doctors who reviewed Noé's photos, they suspected KBG Syndrome. She was tested for it, but it wasn't that either. We entered the extensive DNA research. “Do you want this?”, they asked. “Yes, we have nothing to lose and would like everything to be ruled out.”

By now, six months had passed and we had to visit cardiology again

It was observed that Noé's right ventricle had become larger compared to six months ago. Based on that and her developmental delays, it was decided that Noé would undergo open-heart surgery. It was a shock, but something we had anticipated. I mean: if it helps her to develop further, then it must be done. This happened on May 20, 2019. Everything went well. But seeing your little one lying there, you would give anything to take their place. Afterwards, we had to wait months for the results, because those results don't come instantly. The child health clinic asked what we thought of her eyes. 'Yes, we have mentioned this to the pediatrician before, but he didn't suspect anything.' 'She's cross-eyed,' said the child health clinic. 'Yes, that's correct, we see that often with her. We have frequently expressed our concerns about it. We always thought she had a very strange look in her eyes. Over time, it became more and more visible.' As if sometimes she was zoning out and looking through you with a lifeless gaze. We were seen by ophthalmology. Noé turned out to have a +12 prescription for her eyes. 'What did they say? Are we understanding this correctly?' Once again, you hope for something. 'Could this be it?' I wondered. I had pinned all my hopes on her eye condition, but still, there was a feeling inside me that I couldn't quite place. I remained fearful of what was yet to come, but I suppressed this feeling. By convincing myself, I eventually became absolutely certain that it was her eyes that gave her a peculiar look and also caused her developmental delays.

Until the moment of truth on October 17, 2019

A day that abruptly changed our lives. We were sitting in the waiting room, waiting to be called. Everything was still racing through my mind. "There's nothing wrong, Kim, really!" But still, a feeling that I had carried with me all this time, but always pushed away, started to surface. It came back up. The moment the doctor crossed her hands, I knew it wasn't good. Suddenly I saw paperwork lying around. I gasped for air. I felt suffocated. And then the first words: "We have a diagnosis."

After 20 months, we finally received a diagnosis. Our girl has the rare Kleefstra syndrome. It's a syndrome that is not well-known and was only discovered in 2006. One that comes with many questions and uncertainties for the future.

KIM