Karyotype: 46XX del 3p (14.1-14.2)
DOB: October 22, 2005
Contact: Bianca

During my pregnancy my obstetrician noticed that the growth of Maud was too slow. Because of that I received many ultrasounds. This was no problem for me because I loved the see my baby grow .At the end of my pregnancy they noticed that I had very little amniotic fluid. At 40 weeks I was brought in to the hospital because the amniotic fluid was gone so they needed to start my labour.

We became the parents of a lovely daughter. Maud was very little and underweight. Because of this she had to spend a few days in an incubator. We took her home after three days. We were not aware that there was something going on with our little angel.

When Maud was about 4 months old I noticed that she was left handed. In the Netherlands our childern are being checked by a nurse a few times a year till they reach the age of 2. I told the nurse that it was funny that you already could see that she was left handed. She didn’t find it funny! Children at that age had to use both hands equally. (What did we know, it was our first child) At that point she started physiotherapy. Her therapist was more concerned that she didn’t turn to her belly. We still didn’t see the problem. AREN’T ALL CHILDERN DIFFERENT?!! For a long time we were blind but when her cousin and nephew, who are a few months younger, started walking, we opened our eyes. They could walk and Maud had just learned how to sit on her own. Because of all the questions we had, we made an appointment with a paediatrician. That was the point where all the medical testing began.

Our paediatrician had no clue. He started testing on metabolism. All tests came out negative, thank God! When I heard about it I started googling. This may not have been the best idea because most terrible diseases have some resemblance to the symptoms we were seeing. I don’t recommend it; you may get upset for nothing. She also had an MRI and EEG. They both didn’t show anything special.

Then I saw a special on TV about the Angelman syndrome. It seemed as if they were telling a story about Maud. Once again I made an appointment with our paediatrician and this time I brought a checklist with all of Maud’s symptoms that were similar to Angelman syndrome. She had it all except epilepsy and her facial expressions were different. Our doctor also noticed the similarity. He made an appointment for us with a geneticist. Finally they accurately tested her chromosomes. She was first tested for Angelman and RETT syndrome but both tests came back negative. They added further chromosomal testing and finally in 2012 Maud was diagnosed with a deletion of chromosome 3p 14.1.

We were glad to finally know what was “wrong” with our sweet angel but knowing what was wrong didn’t mean knowing what the future would bring for Maud. Was she ever going to talk and what age of development would she reach? There was no information about this deletion.

In the fall of 2012 Maud got real sick and had to go to the hospital because of dehydration. When she became better, we noticed that she bent forward many times during the day and her lips and nails turned blue at these times. Again she got an EEG. This time it showed signs of epilepsy. It was hard to get the medication right to control her epilepsy so she was tested for a week in a specialized center for epilepsy. It was there that we became aware of her new diagnoses of a deletion of chromosome 3p (14.1-14.2). We are glad to have a diagnosis because it is now much easier to get Auri the services she needs for healthcare and therapies.

Most of all we are glad to have this beautiful, happy and loving girl. Although her development goes step by step and is really slow, she still is progressing. We are proud to have her as our daughter!!