Editor’s note: this story has been translated from German into English.
Story submitted - 2023
We are a family of four living in Germany. Luise was born in May 2015. The pregnancy went without complications. Apart from the fact that Luise was delivered with forceps, everything also went without complications during the birth. But then everything started very slowly. 3 months after the birth, we noticed at the baby swimming class that Luise was much smaller and thinner than the other babies and she was not able to lift her head. She also had very little and thin hair. When she was 5 months old, I suddenly had to wean her because she found it very difficult to suckle at the breast and was on the verge of being underweight. Furthermore, slight heart murmurs were detected, which fortunately are still without clinical significance. We were very worried at that time.
In the first years of her life, we noticed that Luise was always behind in every area of her development compared to children of the same age. For example, she did not learn to walk until she was 22 months old and she spoke her first words when she was 2 years old. For a very long time, she had only eaten mushy food. Pieces of fruit in yoghurt, hard bread edges and meat were incredibly difficult for her to chew. Luise was often dreamy and slowed down in her reactions. It sometimes took us up to two hours in the evening for her to finally sleep. At night, she often woke up and was simply awake for one or two hours. It was a long creeping process until the diagnosis was made. We were reassured from all sides that she was just delayed. Of course, we wanted to believe that ourselves. But at some point we had to admit to ourselves that the abnormalities were becoming more and more frequent.
Story submitted - 2023
We are a family of four living in Germany. Luise was born in May 2015. The pregnancy went without complications. Apart from the fact that Luise was delivered with forceps, everything also went without complications during the birth. But then everything started very slowly. 3 months after the birth, we noticed at the baby swimming class that Luise was much smaller and thinner than the other babies and she was not able to lift her head. She also had very little and thin hair. When she was 5 months old, I suddenly had to wean her because she found it very difficult to suckle at the breast and was on the verge of being underweight. Furthermore, slight heart murmurs were detected, which fortunately are still without clinical significance. We were very worried at that time.
In the first years of her life, we noticed that Luise was always behind in every area of her development compared to children of the same age. For example, she did not learn to walk until she was 22 months old and she spoke her first words when she was 2 years old. For a very long time, she had only eaten mushy food. Pieces of fruit in yoghurt, hard bread edges and meat were incredibly difficult for her to chew. Luise was often dreamy and slowed down in her reactions. It sometimes took us up to two hours in the evening for her to finally sleep. At night, she often woke up and was simply awake for one or two hours. It was a long creeping process until the diagnosis was made. We were reassured from all sides that she was just delayed. Of course, we wanted to believe that ourselves. But at some point we had to admit to ourselves that the abnormalities were becoming more and more frequent.
In 2018, the cardiologist made the suspected diagnosis of Williams Syndrome and we then arranged for a genetic test in Mainz. In March 2019, we received the diagnosis of Nicolaides-Baraitser syndrome. For us, everything fell apart and we felt lost. No one knew about this rare syndrome and on the internet, we only found a German-language information sheet about it. We had a lot of questions in our heads and didn't know what to do with them. But then we discovered the wonderful NCBRS group on Facebook. We met like-minded people from all over the world. And somehow one thing led to another. We got to know other families from Germany and I founded a German-language WhatsApp group. This exchange strengthened us immensely and gave us a lot of support and courage. Finally, we felt understood and not alone.
Luise spent four years in an integrative kindergarten and received psychomotricity, occupational therapy and speech therapy. During this time we were attached to the early intervention centre. My husband and I went there for counselling. Since September 2022, she has been attending a special school with a focus on mental development. Luise is a very proud school child and loves going to school. She loves horses and loves to sing and dance. Our daily routine includes regular appointments with many specialists at the SPZ (Social Paediatric Centre), therapies and regular practice. Because every developmental step does not happen by itself but must be supported and encouraged. Everyday life for us means a lot of patience, time and structure. Dressing, brushing teeth and washing have to be accompanied and supported in the daily routine.
The execution of everyday situations causes Luise a lot of effort, concentration and patience. She often reaches her limits and quickly becomes demotivated and loses interest. Rarely is she able to verbally express an excessive demand, but if not, she gets very angry or sometimes hurts herself and others. Or she lapses into a baby-like behaviour. When walking or in traffic, she does not recognise dangers, approaches strangers and sometimes runs away without turning around. Her tactile and auditory perception disorder is often noticeable in everyday life. Here are a few examples: she does not like buttons, zips or signs on her clothes. Long sleeves must always be pulled up. The scarf must not be too close to the neck. All skin contact such as stroking, kissing, creaming, showering and washing her hair is very unpleasant for her and difficult to endure. Large groups of people, loud noises and fast movements are quickly too much for her. She finds it difficult to absorb and process certain stimuli. For example, it takes her longer to process events and what she is asked. That's why she often asks the same question several times in a row.
Luise spent four years in an integrative kindergarten and received psychomotricity, occupational therapy and speech therapy. During this time we were attached to the early intervention centre. My husband and I went there for counselling. Since September 2022, she has been attending a special school with a focus on mental development. Luise is a very proud school child and loves going to school. She loves horses and loves to sing and dance. Our daily routine includes regular appointments with many specialists at the SPZ (Social Paediatric Centre), therapies and regular practice. Because every developmental step does not happen by itself but must be supported and encouraged. Everyday life for us means a lot of patience, time and structure. Dressing, brushing teeth and washing have to be accompanied and supported in the daily routine.
The execution of everyday situations causes Luise a lot of effort, concentration and patience. She often reaches her limits and quickly becomes demotivated and loses interest. Rarely is she able to verbally express an excessive demand, but if not, she gets very angry or sometimes hurts herself and others. Or she lapses into a baby-like behaviour. When walking or in traffic, she does not recognise dangers, approaches strangers and sometimes runs away without turning around. Her tactile and auditory perception disorder is often noticeable in everyday life. Here are a few examples: she does not like buttons, zips or signs on her clothes. Long sleeves must always be pulled up. The scarf must not be too close to the neck. All skin contact such as stroking, kissing, creaming, showering and washing her hair is very unpleasant for her and difficult to endure. Large groups of people, loud noises and fast movements are quickly too much for her. She finds it difficult to absorb and process certain stimuli. For example, it takes her longer to process events and what she is asked. That's why she often asks the same question several times in a row.
Luise has taught my husband and me a lot. We no longer take anything for granted. We are very happy about every new thing we learn. A while ago, Luise blew her nose on her own for the very first time. Before that, she found it incredibly difficult. We applauded with joy and I was overjoyed. We wish so much that the syndrome would become better known worldwide and that more research could be done. More knowledge about NCBRS would help us and future sufferers to understand it better and to provide timely support and help to our children. Finally, I would like to say: We love our child as she is and are infinitely grateful that she is in our lives.
Thank you, Kerstin, Mum of Luise.
Thank you, Kerstin, Mum of Luise.
Contact US
NCBRS Worldwide Foundation
124 City Road, London, EC1V 2NX, United Kingdom |
|
Vertical Divider
|
Home | About NCBRS | What is NCBRS? | Resources for the Newly Diagnosed | Research | Patient Registry | Stories | Resources | Gallery | Events | Store | Donate | Get Involved | Translate
Copyright © 2023 NCBRS Worldwide Foundation | Registered charity in England & Wales 1190194