Nei primi anni
Mio figlio Kieran ha avuto la sua prima crisi quando aveva 4 anni, è stata una crisi di assenza e un'altra circa 6 settimane dopo. Poiché aveva sperimentato 2 crisi epilettiche, la batteria di test ha iniziato a vedere cosa stava succedendo. Nei mesi successivi sono stati eseguiti EEG, risonanza magnetica ed esami del sangue (compresi i test per cause genetiche). La conclusione è stata che aveva l'epilessia ma senza alcuna causa nota, come nel caso di circa la metà delle persone con diagnosi di epilessia. Dato che Kieran era stato libero da crisi durante questo periodo e al momento non gli era stato somministrato alcun farmaco.
Onset of complex partial seizures
Things changed 6 months later when he started experiencing Complex Partial seizures during the night which increased from 1 the first night to 1 every 1 ½ hours at night while he slept during the space of a week. After that the seizures started to bleed over into his waking hours. His doctor placed him on to Carbamazepine which stopped the daytime seizures but had no effect on the nocturnal ones. Sodium valproate was tried next but sadly increased the seizures to up to 25 a day and the seizures into cluster seizures this is when you have one after another with a short gap of a few seconds in between.
At this point it was decided to do a video telemetry test. This is where you have an EEG for a longer period of time during which you are also recorded on video. Our doctor asked a colleague, who specialises in sleep disorders, to review the video footage and EEG results from the test. Luckily, she had seen another patient showing a similar pattern and type of seizures and queried if he had been tested for Ring20. Has he had and it had come back negative, our doctor requested if results could be rechecked. The test came back negative again but only 5 cells had been checked. So, after a further blood test, another test was done this time with a larger sample of 50 cells and the diagnosis for mosaic Ring Chromosome 20 was confirmed.
Only 19 of the 50 cells were positive for Ring20 which is why it was missed in the original test.
Se mostri uno dei segni dettagliati su questo link, potrebbe valere la pena richiedere un test aggiuntivo con più celle. https://www.ring20researchsupport.co.uk/kno…