Our Princess

This is the story of our daughter who is 22 years old. Her name is Emilie and she grew up in a ‘normal’ family: father, mother and a 4 year elder brother called Bart. Bart’s youth was great. He is a baseball player and a bridge builder, meaning he knows how to connect people with a great sense of humor and social feeling. My wife knew what it was to get a child and raise it like Bart. How different that was with Emilie. She was born in 1992, the natural way. But being a mother, she felt that something was wrong with this child. She had no connection with her. Sometimes Emilie felt like a ragdoll and she had problems with her meals as well as her sleeping rhythm. We visited a lot of doctors; they couldn’t fnd anything wrong. The mother worried too much, so they said. But she knew better. Family and friends, who had kids already, told us not to worry about it. ”My kid was late too in talking or walking”. But we kept on worrying and searching for a reason. So, at the age of 4, Emilie was diagnosed 22q13.3 with mental retardation and autism – nameless in that time, because the instruments were insuffcient.

Emilie went to special schools. She learned things that normal kids learn, but on her own level and speed. However, she’s always been living in a world of fantasy with ‘fake friends’ as she calls it. They live in ‘bad word’ land and they were telling Emilie what to do. As parents we understood this and we adapted our way of living to her world, in which she felt safe and comfortable, as she couldn’t function in ours. Her behavior was not that diffcult as we had expected, but we were the only ones that could understand what her needs were and how to deal with them. Until the age of 16, she was not independent and relied completely on us. But slowly she became more and more a self-confdent young lady. We were able to go out for a night to have meetings or go to a party. Emilie was trained to know how to use a phone, knew some numbers by heart and when to use them, like 911.

8 years ago, we started an initiative with 3 other couples that also have a child with a handicap. They had a plan to build a place for those children to live and be safe. In those 8 years we had meetings, visited places to look and learn, and came to a beautiful result: a building with 11 apartments, for 11 persons to live their lives, and be happy. As we live close to this place, about 1.5 miles, we visited the place daily during construction, took a lot of pictures, and made Emilie’s future plans.

In October 2013, Emilie’s behavior changed to a form of OCD and her doctor prescribed paroxetine. A medicine that would change her life for good, as well as ours. The evening of about January 18, 2014, was a huge turning point in Emilie’s behavior. She had a breakdown comparable to psychosis. The psychiatrist diagnosed psychosis based on our story, as the psychiatrist only spent 5 minutes with Emilie. She had to take haldol, an anti-psychotic drug (10mg), from that moment on. But Emilie showed a lot of side effects, like trembling, catatonic limbs, incontinence and so on. We told this to the psychiatrist but she didn’t give credence to it. My wife decided then to stop the medication. Emilie has shown different behavior since that night in January. She has had good weeks and bad weeks, with a regularity of 2 to 3 weeks.

At the end of February this year we decided to move Emilie to her new apartment, which she was looking forward to so much. Her mother also moved in with her for a few weeks to let her get used to the new place and learn the ins-and-outs of this new life style. Emilie fourished and seemed to have found her base in her new apartment. But then disaster struck again. Emilie had another breakdown and was taken home because the place where she lived didn’t have 24/7 care. Our psychiatrist heard of this incident and prescribed risperdal, another anti-psychotic drug. This also gave Emilie side effects, even worse than before. We had a bad feeling about the psychiatrist. We then had a frm conversation with him. He was telling us that we trusted him less than we did Google. He didn’t agree with our way of working and was willing to stop helping us! That was too much! We went to the hospital with her and they diagnosed serotonine syndrome – an intoxication due to paroxetine in combination with risperdal. We were just in time. The medication was stopped immediately. Emilie went through hell while detoxing the medication. After a week she had to go home again. The doctors couldn’t do more for her. After that period Emilie went up and down in her behavior – the same rituals as before. Then after a few weeks, she got worse and started to scream for fear. It lasted 2 days and nights. We couldn’t bear it anymore and decided to take her to crisis intake. We broke down to see her go there, but it was the only right(?) decision. She stayed there for 3 months. But she didn’t get the right treatment. They just kept an eye on her; she had her meals and a place to sleep, that was all. Emilie had a very bad time there, also with ups and downs. We cried our eyes out.

My wife as well as I started to visit a psychologist at that time. We lost weight and had stopped our hobbies; my wife is a successful oil painter and I’ve been playing the baritone saxophone for several years now. For 9 months Emilie has been asking almost every day when she can go back to her apartment, but we don’t know what to say to her. We spent 8 years and a lot of money into making special things for Emilie so she would have a good base of comfort and safety. And now, stop this all and throw it away? How can we tell her that?

About half a year ago we got in touch with the Conny van Ravenswaaij team in Groningen because, thanks to Google, we found out that Emilie’s handicap had a name, Phelan-McDermid Syndrome. This is a new era for us! She referred us to professor Verhoeven in the Netherlands and he decided to start the investigation all over again using modern instruments. Emilie was brain scanned. We were told that Emilie had another disability besides her 22013.3. They found out that there had been a trisomy of the 11th chromosome to 22. Dr. Verhoeven told us this was unique in the medical world. Our princess was unique, like everybody in the world is, but this was special. Dr. Verhoeven told us about Emilie’s future but it ‘s diffcult to make any prediction. He prescribed Depakine (Natriumvalproaat); that might give her an acceptable standard way of living. We started with the medication on September 29th and still see no side effects. We are gently positive about the future.