Bente's
Story

During the first ultrasound it was immediately seen that I had a single umbilical artery, but this would not cause any problems. The pregnancy went very well, at 35 weeks Bente was still in a breech position. The gynecologist advised to schedule a version (turning the baby) so that I could give birth in a normal way. During the version we found out that Bente's heart rate did not change as soon as we started pushing to turn, we tried this twice but without result. Since then, I had to come every day for a CTG, sometimes twice a day. On the ninth day I found Bente less active and received little to no response. The gynecologist had made an appointment with the entire team: 'if anything changes, we will come and get her immediately'. That same afternoon we became the proud parents of Bente. That day Bente was also doing well, she had audible stridor and could not finish her bottle, but she was given a nasogastric tube for this the same evening. I was told if it stayed like this she could come to my room, unfortunately this did not happen. The next morning the pediatrician came with the news that Bente was not doing well and that she was receiving oxygen and flow. They also saw that her eyes were different and that her physical movements were also not normal. She was very stiff and made stiff movements. This day was very intensive and scary, the doctors could not say whether it would turn out well or not. Luckily, Bente became stronger every day and after almost 3 weeks we were allowed to go home! During those 3 weeks in hospital there were many examinations: brain ultrasound, ultrasound of her whole body, MRI, ENT scan, brain activity, speech therapist and physiotherapy. They did everything they could to find out what was wrong with Bente. A geneticist also came the first week and took blood from Bente and from us, they checked everything and the first tests were all good. Eventually they went deeper and the WES test revealed tubb3 from de novo after 7 weeks. Bente is now 7 months old and we now know what her symptoms are: Hypotonia, CFEOM, poor facial expression, paralysis of the vocal cords, partial absence of the brain beam. Another MRI will follow for this. While crying, her saturation drops, but this is getting better and the stridor is almost no longer present. We now have a speech therapist and physiotherapist at home. Bente gets all her nutrition through the NG tube but we are working on getting a PEG tube. We are working with the speech therapist on nutrition, we have been working on small snacks of fruit and vegetables for a few weeks now and this is going great! She is behind in development, but she shows many good things. She sometimes rolls on her stomach and likes to play with her toys. And taking a bath is her favorite, she kicks out so much water that it's like a swimming pool outside her bath! Bente is a cheerful and sweet baby, she laughs a lot and seeks contact with us and her big sister, she already babbles away but also makes herself heard if she disagrees with something! We are so proud of her that she is getting stronger. What the future brings us remains a surprise, but we are going for it!