Rose is our third child. She was born in May 2014 and did fine for the first months - happy, smiling, eating and sleeping well. Compared to her 2 older siblings, her motor skills were better than theirs at the same age. When Rose was 4 months old, I was driving with her one day, and another car crashed into mine from behind at high speed - we both got whiplash. In the following period, I was concerned because Rose wouldn't use her left arm much, she stopped liking to be placed on her stomach, etc. I thought the problems came from the car crash, and had her seen by a Rheumatologist. He said if it came from the car crash, she would probably get better soon. At about the same time, when Rose was about 6 months old, my mum - a former GP for over 30 years - started to notice absence episodes, and some weeks later Rose started making weird jerks. Just one quick, but strong, burst at the time. Some people said it was just the reflex babies have when they get startled, but it also happened when the house was totally silent, so I wasn't convinced. Now I know that this was myoclonic jerks. The Rheumatologist saw Rose again when she was 8 months old. This time he was concerned because her head control had decreased since he saw her the first time. During the following weeks, Rose lost physical abilities, e.g. she couldn't sit in a high chair anymore, and she started to have episodes where she would suddenly totally lose body tone. Also, she became very hypotonic. I was alarmed, and had her referred for an immediate Pediatric review under the suspicion that she could have epilepsy. The Pediatrician who saw Rose didn't think much of what I was sharing, but agreed to arrange for a 20 minute standard EEG. Nothing suspicious showed on it, so I was told that Roses episodes were not epileptic. An MRI scan also did not give any explanation to Roses delay in development, which was now becoming apparent. We also started to suspect that something was not right with her vision, but I could not pinpoint it apart from her having difficulties in focusing. Much later, we learned that Rose has CVI. Because of the issues with her vision, our Neurologist started to suspect that Roses main diagnosis was Autism. We disagreed, as we always saw Rose as a very social child. Much later, it turned out that we were right - she is not Autistic, she was simply "blurred" because of her Epilepsy that was not being treated.
Roses first series of loss of abilities stopped at around 11 months; she stabilized and started to develop again very slowly. Then around 16-17 months, she suddenly lost some fine motor skills and cognitive skills with no visible explanation. Then she stabilized and started to develop slowly from that point. We were quite frustrated since we were sure there was an underlying reason for Roses problems that had not been identified, and time was passing. Some standard genetic and metabolic testing was done, but with no result. In the following year, there was nothing new. With a lot of hard work, Rose slowly gained some new skills, to the development point of something like a 10 month old baby. The only new thing was that sometimes her absence episodes were longer, maybe one minute, and sometimes she would afterwards look around like she had forgotten where she was. Also, sometimes she would roll her eyes, especially when exposed to bright light. I kept suspecting that Rose had Epilepsy. When Rose was 2 years and 4 months, I went to check on Rose who was having a nap or, so I thought. When I found her she was seizing - it lasted 7-8 minutes from when I found her, and I can only guess how long it had been going on before I found her. An acute EEG was done, and this time severely abnormal activity was identified. I had been right all along in my suspicion. It was a relief, in its own weird way - after fighting so long and hard to be heard, and Rose was put on her first AED. Also, she was seen by a team of specialists who confirmed that she is not Autistic, but that she has CVI and that her condition is clinically "Rett like". I felt like the pieces of the puzzle were finally starting to come together. Then, a few weeks later Rose had another Generalized Tonic Clonic Seizure. She only seized a few minutes, but went into a non-convulsive status which the doctors could not break in spite of trying for several hours, so Rose was induced into a coma and rushed to the central hospital in Copenhagen for intensive care. We ended up staying for 4 weeks, as Rose on top of her status got a severe Pneumonia and acute kidney failure due to the sedative that was first used for her. In short, we were really lucky that she survived and we are ever grateful to the doctors who kept fighting for her. During that hospitalization, we also finally got the KCNB1 diagnosis which made all the pieces in the puzzle fit.
A year has now passed since Rose got the KCNB1 diagnosis, and during this period we have seen a number of new types of seizures, and Rose is still experiencing periods of function loss (she seems to be a "yoyo-girl"). This is probably due to seizure activity and quite massive sub-clinical epileptic activity. Rose has a wealth of weird symptoms - sudden heart rates up to 230bpm; low body temperatures during some seizures; flushing on the upper body and arms; sudden cold and bluish hands to name a few. Especially, we have been struggling with autonomic seizures that are tricky to diagnose and also difficult to treat. So, we are not done discussing with doctors - unfortunately - but our struggle over the past 3 years has taught me to stand firm since I have been pretty accurate in my observations so far. Also, we have had to get a stomach tube for Rose since she is no longer able to drink herself. In spite of heavy medication she is not seizure free, however lately we have had really good success from Rufinamide. Next step if/when needed will be CBD oil.
In spite of all this, Rose is a very happy girl, always smiling, making funny "baby babble", she loves music and has developed the cutest way of dancing when we hold her, she likes gourmet food, and luckily she is very enthusiastic in training. And not least, she is extremely cuddly and social - she could sit on my lap all day if she were to decide, and she simply adores her older brother Alexander and sister Julie. She charms everybody who meets her, and she is so "zen" that it is sometimes hard to believe. It really, really takes a lot for Rose to get upset. So, everyday Rose teaches us about what is really important in life, the small pleasures of simple life, and for that we are really grateful, and we could not wish for Rose to be any different even though our life has of course changed drastically over the last couple of years due to her condition.
Roses first series of loss of abilities stopped at around 11 months; she stabilized and started to develop again very slowly. Then around 16-17 months, she suddenly lost some fine motor skills and cognitive skills with no visible explanation. Then she stabilized and started to develop slowly from that point. We were quite frustrated since we were sure there was an underlying reason for Roses problems that had not been identified, and time was passing. Some standard genetic and metabolic testing was done, but with no result. In the following year, there was nothing new. With a lot of hard work, Rose slowly gained some new skills, to the development point of something like a 10 month old baby. The only new thing was that sometimes her absence episodes were longer, maybe one minute, and sometimes she would afterwards look around like she had forgotten where she was. Also, sometimes she would roll her eyes, especially when exposed to bright light. I kept suspecting that Rose had Epilepsy. When Rose was 2 years and 4 months, I went to check on Rose who was having a nap or, so I thought. When I found her she was seizing - it lasted 7-8 minutes from when I found her, and I can only guess how long it had been going on before I found her. An acute EEG was done, and this time severely abnormal activity was identified. I had been right all along in my suspicion. It was a relief, in its own weird way - after fighting so long and hard to be heard, and Rose was put on her first AED. Also, she was seen by a team of specialists who confirmed that she is not Autistic, but that she has CVI and that her condition is clinically "Rett like". I felt like the pieces of the puzzle were finally starting to come together. Then, a few weeks later Rose had another Generalized Tonic Clonic Seizure. She only seized a few minutes, but went into a non-convulsive status which the doctors could not break in spite of trying for several hours, so Rose was induced into a coma and rushed to the central hospital in Copenhagen for intensive care. We ended up staying for 4 weeks, as Rose on top of her status got a severe Pneumonia and acute kidney failure due to the sedative that was first used for her. In short, we were really lucky that she survived and we are ever grateful to the doctors who kept fighting for her. During that hospitalization, we also finally got the KCNB1 diagnosis which made all the pieces in the puzzle fit.
A year has now passed since Rose got the KCNB1 diagnosis, and during this period we have seen a number of new types of seizures, and Rose is still experiencing periods of function loss (she seems to be a "yoyo-girl"). This is probably due to seizure activity and quite massive sub-clinical epileptic activity. Rose has a wealth of weird symptoms - sudden heart rates up to 230bpm; low body temperatures during some seizures; flushing on the upper body and arms; sudden cold and bluish hands to name a few. Especially, we have been struggling with autonomic seizures that are tricky to diagnose and also difficult to treat. So, we are not done discussing with doctors - unfortunately - but our struggle over the past 3 years has taught me to stand firm since I have been pretty accurate in my observations so far. Also, we have had to get a stomach tube for Rose since she is no longer able to drink herself. In spite of heavy medication she is not seizure free, however lately we have had really good success from Rufinamide. Next step if/when needed will be CBD oil.
In spite of all this, Rose is a very happy girl, always smiling, making funny "baby babble", she loves music and has developed the cutest way of dancing when we hold her, she likes gourmet food, and luckily she is very enthusiastic in training. And not least, she is extremely cuddly and social - she could sit on my lap all day if she were to decide, and she simply adores her older brother Alexander and sister Julie. She charms everybody who meets her, and she is so "zen" that it is sometimes hard to believe. It really, really takes a lot for Rose to get upset. So, everyday Rose teaches us about what is really important in life, the small pleasures of simple life, and for that we are really grateful, and we could not wish for Rose to be any different even though our life has of course changed drastically over the last couple of years due to her condition.