Nina’s Story

We first notice our daughter´s spasms the week she turned 14 months old. They come in clusters and we didn´t get too much concerned until it gets frequent, after almost one week we went to a neuropediatrician who warned us that she may have West Syndrome. Before this happened Nina´s development was pretty regular. The first EEG did not show hypsarrhythmia pattern, so we went home feeling relief with a Valproic acid prescription which worked pretty well for almost 1 month. After that period the spasms returned in a different pattern. It wasn´t more in a cluster, they appeared all day. An MRI showed normal brain structure. Another EEG brings us a very different diagnosis “generalized epilepsy idiopathic”. We made the genetic´s, after all the typical epilepsy tests. We also try a lot of medications: lamotrigine, levetiracetam, and vigabatrin. After she started to have another type of seizures we then tried carbamazepine + valproic acid + clobazam. At this point a third EEG showed the hypsarrhythmia pattern. We got devasted but the doctors were not convinced that was a criptogenic case. Four months after the first spasms the genetic test came leading us to the KCQN2 world. It is a whole new word but these five letters open our hearts to accept our baby daughter condition. She has now 22 months, and her motor development went regular. But now that the seizures get controlled we start to notice how delayed she is when it comes to cognitive and behavior parts of development. Until now the family kcqn2 tests aren´t ready. So we don’t know the other consequences in our family and if it going to change Nina prognosis. The genetic doctors said we may have the mutation but not manifested the symptoms. We´ll see. She just finished a very difficult prednisolone treatment and we hope she gets even better after the drug withdrawal. We are going to keep the other anticonvulsant and pray for the best.