Elia Costantini’s Story
Elia was born in 2012 with spontaneous and full-term delivery. She had her first episodes of seizures at five months with generalized focal seizures during the falling asleep phase. We made several hospitalizations with two resonances with nothing evident and three genetic studies. Elia found it very difficult to find medicines that would make her overcome the crises, She immediately became drug resistant. After many attempts at medicines we managed to reset the seizures with a cycle of ACTH, after which he started reacting to the medicines. Now she takes Depakin, rivotril, taloxa and tyrosint being hypothyroid. We discovered his genetic problem in 2017 and he was the 24th case. Now Elia has seizures under control, she has ataxia and cognitive impairment but his development is advancing and we are very happy. )We are not yet aware of its case history, it is thought to be a loss of function but it is not yet certain.””Elia was born in 2012 with spontaneous and full-term delivery. She had her first episodes of seizures at five months with generalized focal seizures during the falling asleep phase. We made several hospitalizations with two resonances with nothing evident and three genetic studies. Elia found it very difficult to find medicines that would make her overcome the crises, She immediately became drug resistant. After many attempts at medicines we managed to reset the seizures with a cycle of ACTH, after which he started reacting to the medicines. Now she takes Depakin, rivotril, taloxa and tyrosint being hypothyroid. We discovered his genetic problem in 2017 and he was the 24th case. Now Elia has seizures under control, she has ataxia and cognitive impairment but his development is advancing and we are very happy. We are not yet aware of its case history, it is thought to be a loss of function but it is not yet certain.
Elia è nato nel 2012 con parto spontaneo e a termine. Ha avuto i primi episodi di crisi epilettiche a cinque mesi con crisi focali generalizzate durante la fase dell’ addormentamento. Fatti diversi ricoveri con due risonanze con nulla di evidente e tre studi genetici. Elia ha trovato parecchie difficoltà a trovare medicinali che gli facessero passare le crisi, diventava subito farmaci resistente. Dopo tanti tentativi di medicinali siamo riusciti a fare un reset delle crisi epilettiche con un ciclo di ACTH ,dopo di ché ha iniziato a reagire ai medicinali. Ora prende Depakin,rivotril, taloxa e tirosint essendo ipotiroideo.Abbiamo scoperto il suo problema genetico nel 2017 e lui era il ventiquattresimo caso. Ora Elia ha le crisi sotto controllo, ha un’ atassia e deficit cognitivo ma il suo sviluppo sta avanzando e noi siamo molto contenti.
Non siamo ancora a conoscenza della sua casistica,si pensa sia una perdita di funzione ma non è ancora certa.
