[Translated from German]
Tamina was born in November 2014 in Germany. She is the youngest of three girls. The pregnancy was normal and she was born by planned caesarean section. The Agpar values were at 7/7/8.
Tamina always slept very much and was a quiet child. For the first three months she suffered from colic. When she was 9 months old, we realized that she was developing more slowly than other children. (especially motor) She could not sit still or crawl. With 1 year we started with physiotherapy. She then progressed very fast. At 15 months, she then fell over in the free seat. The pediatrician then referred us to the neurologist. Then the search started, as the doctor was sure that it was a gene defect.
For control, an EEG and an MRI were written. All studies were unremarkable, several known gene defects were excluded.
Christmas 2016 she fell over with us in the bathroom, we are then with the ambulance to the hospital and no one knew what's going on. So we were released after three days without findings and without further incidents.
Everything was fine by May. There were then written more EEG's, all unobtrusive. In May 2017, she then got a seizurel with her childminder. That was obvious. We then came back to the hospital, the EEG was still inconspicuous. We were discharged home with our first drug. This was followed by two more tonic-clonic seizures followed by hospitalization and unremarkable EEG. Change of medication and again the hope that everything will be fine now.
The cramps were then no longer so bad, but more and more often (once a week up to 4 times a day). She did it so much that in the fall of 2017 she just managed two more hours in kindergarten before she got too tired.
In order to progress in diagnostics, we went to human genetics in December. It then took until April before we got diagnosed with KCNB1. However, this did not help us much as neither the human geneticist nor the neurologist knows about it. But we still had no grip on epilepsy (April 2018). The medication we took at the time boosted ADHD. It meant for us that we were constantly paying attention that she did not have a seizure, that she was not running away, that she was correctly assessing dangers and so on.
Still, the EEG was unremarkable until the next check in July 2018. That morning she had a seizure again. Now the neurologist could recognize something in the EEG and we were changed over to medication. Since then we are seizure-free (meanwhile 15 months). Actually, we could have breathed a sigh of relief.
Unfortunately, we are struggling with side effects. Since we are antipyretic, she can not sleep well at night. She falls asleep quickly, gets restless in the middle of the night, and we have to calm her down. But there are no cramps she has, just internal anxiety, maybe even fears. She still needs a lot of sleep. 11 to 12 hours at night and 2 hours at noon.
Since then, the EEG's are pathological, so we have to reckon with a cramp at any time!
Cognitive is about on the level of a 2.5-year-old. In addition, she has a strong ataxia and of course a microcephaly.
Otherwise, she is our sunshine, she laughs a lot, is always in a good mood. She loves music, riding and our dog. She is very open and has no fear of strangers.
Tamina was born in November 2014 in Germany. She is the youngest of three girls. The pregnancy was normal and she was born by planned caesarean section. The Agpar values were at 7/7/8.
Tamina always slept very much and was a quiet child. For the first three months she suffered from colic. When she was 9 months old, we realized that she was developing more slowly than other children. (especially motor) She could not sit still or crawl. With 1 year we started with physiotherapy. She then progressed very fast. At 15 months, she then fell over in the free seat. The pediatrician then referred us to the neurologist. Then the search started, as the doctor was sure that it was a gene defect.
For control, an EEG and an MRI were written. All studies were unremarkable, several known gene defects were excluded.
Christmas 2016 she fell over with us in the bathroom, we are then with the ambulance to the hospital and no one knew what's going on. So we were released after three days without findings and without further incidents.
Everything was fine by May. There were then written more EEG's, all unobtrusive. In May 2017, she then got a seizurel with her childminder. That was obvious. We then came back to the hospital, the EEG was still inconspicuous. We were discharged home with our first drug. This was followed by two more tonic-clonic seizures followed by hospitalization and unremarkable EEG. Change of medication and again the hope that everything will be fine now.
The cramps were then no longer so bad, but more and more often (once a week up to 4 times a day). She did it so much that in the fall of 2017 she just managed two more hours in kindergarten before she got too tired.
In order to progress in diagnostics, we went to human genetics in December. It then took until April before we got diagnosed with KCNB1. However, this did not help us much as neither the human geneticist nor the neurologist knows about it. But we still had no grip on epilepsy (April 2018). The medication we took at the time boosted ADHD. It meant for us that we were constantly paying attention that she did not have a seizure, that she was not running away, that she was correctly assessing dangers and so on.
Still, the EEG was unremarkable until the next check in July 2018. That morning she had a seizure again. Now the neurologist could recognize something in the EEG and we were changed over to medication. Since then we are seizure-free (meanwhile 15 months). Actually, we could have breathed a sigh of relief.
Unfortunately, we are struggling with side effects. Since we are antipyretic, she can not sleep well at night. She falls asleep quickly, gets restless in the middle of the night, and we have to calm her down. But there are no cramps she has, just internal anxiety, maybe even fears. She still needs a lot of sleep. 11 to 12 hours at night and 2 hours at noon.
Since then, the EEG's are pathological, so we have to reckon with a cramp at any time!
Cognitive is about on the level of a 2.5-year-old. In addition, she has a strong ataxia and of course a microcephaly.
Otherwise, she is our sunshine, she laughs a lot, is always in a good mood. She loves music, riding and our dog. She is very open and has no fear of strangers.