Lotte Jorwerda

During one of the hospital admissions, there was a note in Lotte's folder that a nurse had noticed that Lotte's ears were planted low, that she had a broad nose and that she thought her eyes looked odd. This was the reason for us as Lotte's parents to have Lotte examined. If there is something wrong, we want to know, we thought. It was quite a quest. We started in Groningen, later to Amsterdam and also to Nijmegen. When we went to SEIN in Zwolle for an epilepsy check-up, they offered us to have their clinical geneticist from Utrecht take a look at Lotte and we accepted. In February last year, we went to Zwolle to have an interview with the clinical geneticist. After that, blood was taken from Lotte and us and the doctor started to examine her. At the end of February this year, we received a phone call from Utrecht, saying that they wanted to make an appointment with us for the results. A week later we visited her in Zwolle and we were told that Lotte has the Cornelia de Lange syndrome (hdac 8). Lotte was born on 02-01-2001. She had a low birth weight, no sucking reflex and her cries were barely audible. It soon became known that Lotte had a choane atresia (closed nose). At the age of eighteen months, this was surgically opened and Lotte was hospitalised several times for this.

After that, an unknown world opened up for us. We have studied the syndrome and have found out that there is indeed a lot of recognition. We have come into contact with the CdLS association and hope in this way to hear from other parents, especially at the family meeting.

We are Eddie and Petra Jorwerda. Lotte has a sister Ylonka (7 years). And Lotte has a little brother Bart-Jakob. They are now trying to find out whether he also had the Cornelia de Lange syndrome. We think so ourselves. Bart-Jakob was born and died on 19-02-2003 and actually he had the same symptoms as Lotte but worse.