Anna Líf is born in Iceland in 2003. She was born prematurely – 8 weeks before scheduled time, just weighing 1686 grams (3.71 lbs). In ultrasounds on the 20th week of pregnancy it showed that a piece of her bowels were missing and because of that she would need surgery immediately after birth. But other than that everyting looked all right.
But when she was born it was obvious that there was something more –her head was smaller than it was supposed to be (microcephaly) and her eyes were really small and the corneas were very clouded. A MRI showed that besides the small head her brain was lacking the usual folds and wrinkles and it had smooth surfaces in some places.
She had the surgery to connect the bowels the day after birth and it went well, but while she was healing she had to have parenteral nutrition. After 4 weeks in the NICU Anna Líf got really bad infection due to the nutrition needle –and basically stopped breathing. The doctors saved her, but after this other troubles arouse. Her liver was not working properly and the doctors were not optimistic that she would live long –and said that possibly she had some liver disease. After 10 weeks in the hospital Anna Líf came home, her liver was still not funtioning normally and the doctors said that only time would tell how it worked out. But after only few weeks the blood tests were showing improvement and steadily got better every week. So the reason for the liver troubles was the infection not some disease.
After Anna Líf´s birth the doctors and the geneticists searched in all databases available at that time for diagnosis, putting together all symptoms but didn´t find answers. However they found an article about two sisters with similar symptoms but there was not enough information to verify anything. The doctors told us parents that she was blind and with severe cognitive impairment, she would never walk or even move by herself, not talk, not eat by herself and possibly not live more than two years. But still she was moving in the baby incubator and she was reacting to light so we were hoping for the best. And Anna Líf has most definately proved the doctors wrong in many ways, she started walking when she was 2 years old, she talks and she is eating by herself. Surely she is legally blind and has mental impairment – but most of all she is living a good and happy life.
The years went by and we thought that we would never get an diagnosis for Anna Líf –just knew that she was one of a kind. In September 2017 Anna Líf started having epilepsy seizures, which was quite a shock, even if we had been told it could happen. A few days after the first seizure a cousin of Anna Líf was googling epilepsy when he stumbled upon a video of a little girl called Ruby and immediately saw the resemblance between them two. He sent us the video and it just brought tears to our eyes –there was this girl looking so much alike our own daugher. We started reading Ruby´s story and saw that she had been diagnosed with Stromme syndrome –and after reading about this syndrome we discovered that we could tick many boxes looking at Anna Líf´s symptoms. We immediately contacted Anna Líf´s doctor asking if this was possible! He was not as excited as we were, had never heard about this syndrome, but agreed to get a genetic test done –and a few weeks later it was confirmed: Anna Líf has Stromme syndrome!
It has never been an issue for us to have a diagnosis, she is just Anna Líf and we will take care of her as before but after we got some answers we felt a little relieved –we didn´t do anything wrong during pregnancy.
Anna Líf is now almost 16 years old, she is extremely happy girl who loves music, going to the theater, singing, dancing and watching all kinds of kids stuff on Youtube. She is now studying in a special class in a school in our hometown in Mosfellsbaer, Iceland –but next winter she will go to college and study in a Special Educational Program.