Greetings from Norway!
Our family consists of Ingunn, Frode, Kristine 4 ½ years old and Andrea 3 ½ years old. Kristine was born in April 2003 at 37 weeks. My pregnancy was quite difficult as I had pre-term labor at seven months and had to lie down for 5 weeks. My labor went very fast, and we were so happy the first hours after she was born. Everything seemed to be fine with our little daughter, and we named her Kristine after her great grandmother.
Kristine seemed to be very healthy when she was born, but she started to get limp after a few hours. She was also suffering from hypoglycemiai so we were taken to the NICU the morning after she was born.
Once in the NICU it was discovered that she had an arched palate/isolated cleft palatei and a small heart failure (a VSD). She also had special facial features – eyes, mouth, eyebrows and ears. Because of the cleft palate and because she was very limp it was very difficult to feed her. After a week the doctors told us that she probably had the diagnosis Down Syndrome. Tests were taken and sent for a chromosomei analysis.
The days went by and we had a very hard time. We started to read a lot about Down Syndrome and after a while we thought that everything was going to be fine. We received the test results ten days later. The answer came as a new shock – the test was negative - they had found normal chromosomes in her genome. We decided to leave the hospital that day. Kristine was three weeks old the day we went home.
Kristine was not gaining enough weight and she had aches in her stomach after every meal. We had to feed her through the feeding tube every third hour day and night, and control her weight twice a week at the local child health center. The public health nurse did a great job following us. We discussed our concerns with her almost every week but we did not get answers to our questions.
The first turning point came after six Kristine Moss - 4 ½ years old Greetings from Norway! By Ingunn Brøndbo weeks. Because Kristine was born with the cleft palate we had an appointment at a hospital in Oslo. A surgeon wanted to see the cleft palate in order to be able to plan the operation. He told us that he wanted to direct us to a genetics doctor at the University hospital in Oslo. We felt an enormous relieve about that decision.
The next months went by. Kristine stared to grow and to gain weight but she wasn’t hitting the milestones, and most of all she didn’t seem to have the strength in her body that most babies do. We started to see a physiotherapist once a week at the local hospital. The therapy helped but her joints were very loose and her body was very limp, so every step forward needed a lot of effort.
She attended kindergarten a few hours a week when she was ten months old, and stared full time when I had to go back to work when she turned one. She was ill all the time the first year in kindergarten. She was also very tactile defensive at this age – she disliked baths, hair brushing and cuddling. She also disliked new food and new situations.
The cleft palate was closed when she was one year and two months old. They also put tubes in her ears. The operation was successful and the palate is now very high but closed.
The diagnosis Kabuki syndrome was first mentioned in a letter we received from our geneticist doctor New Years Eve 2004. It was only mentioned in the letter but I became very curious and started to search on the Internet. I found a photo of a girl with Kabuki syndrome, and from that moment I just knew that Kristine had the same syndrome. It was a very special moment. I sent an e-mail to the genetics doctor the same day and showed her the photo. She agreed with us but in order to be quite sure she took our case to a meeting with several genetics doctors in London Dysmorphology Club. They all agreed with her. Norway is a very small country, and only about six to eight people have this diagnosis today.
Kristine walked her first steps a couple of months before she turned three. It was a major, positive event for us! Kristine is turning five years in April. She is healthy, happy and full of life. She is very close to her little sister Andrea. They are almost like twins. She thoroughly enjoys kindergarten. She is integraded in our local kindergarten but she is followed by a special teacher 8 hours a week and is seen by a speech therapist and a physiotherapist regularly. She continues to thrive and she is making progresses in all areas of development. She has a mild intellectually disability and loves routines. She has very poor coordination and a poor sight. She has problems with constipation and dribbling from her mouth. She speaks and tells stories in full sentences but can be a little hard to understand if you don’t know her well. She loves to play with her little sister, her friends and her dolls.
The first years were the rockiest and we did have many bad days back then. The situation is now turned and we feel almost like an ordinary family. We are very proud of our little girl and we are very happy that she came in to our life.
Thank you so much for the great job this support group is doing, and thank you for allowing us to share our story with you.