Sacha’s Story
Sacha was born in 2013, the pregnancy went well. He was born at term, without any complications. He walked at 14 months. The disease began before he was 2 years old. He fell a lot without putting his hands forward, he stared at the lights, he always sat looking at books.
He started his first epileptic seizure (grand mal type) at 21 months. I found his nap very long, when I went to see him in his room, he was paralyzed on one side.
After that, every 2, 3 days he had epilepsy ailments. His seizures lasted about 1 hour. He also had absence-type seizures.
Our second home was the hospital!
I decided to contact Professor Nabbout in Paris. The day after my email, we had an appointment with her. She set up a second Likozam treatment in addition to the diacomit he already had. This changed our life, the epileptic illnesses have spaced out and now Sacha has not had any for 3 years. We received the genetic tests in 2018 informing us that Sacha had a KCNA2 genetic mutation. We, his parents, are not carriers of this genetic mutation. (We still don’t know if this is a loss or gain of function).
Sacha is in ulis CE1 class with SESSAD follow-up (speech therapist, occupational therapist, psychologist, orthoptist). He has a significant mental retardation, he is dyspraxic, behavioral disorder, motor problem, moderate autistic disorder.
It evolves at its own pace. He is a very endearing little boy.
We know how fortunate we are that he can walk, cycle and have epilepsy under control.
Sacha est né en 2013, La grossesse s’est bien passée. Il est né à terme, sans aucune complication. Il a marché à 14 mois. La maladie a commencé avant l’âge de 2 ans. Il tombait beaucoup sans mettre ses mains en avant, il fixait les lumières, il restait toujours assis à regarder des livres.
Il a commencé sa première crise d’épilepsie(type grand mal) à 21 mois. Je trouvais sa sieste très longue, lorsque j’ai été le voir dans sa chambre, il était paralysé dun côté.
Après cela, tous les 2, 3 jours il faisait des mals épileptiques. Ses crises d’épilepsies durait environ 1 heure. Il faisait aussi des crises type absence.
Notre deuxième maison était l’hôpital !
Jai décidé de prendre contact avec le professeur NABBOUT à Paris. Nous avons eu dès le lendemain de mon mail, un rdv avec elle. Elle a mis en place un deuxième traitement Likozam en plus du diacomit qu’il avait déjà. Cela à changer notre vie, les mals epileptiques se sont espacés et maintenant cela fait 3 ans que Sacha n’en a pas eu. Nous avons reçu les tests génétiques en 2018 nous informant que Sacha avait une mutation génétique KCNA2. Nous, ses parents ne sommes pas porteur de cette mutation génétique. (Nous ne savons toujours pas si c’est une perte ou gain de fonction).
Sacha est en classe ulis CE1 avec suivi SESSAD (orthophoniste, ergothérapeute, psychologue, orthoptiste). Il a un retard mentale important, il est dyspraxique, trouble du comportement, problème de motricité, trouble autistique modéré.
Il évolue à son rythme. C’est un petit garçon très attachant.
Nous savons la chance que nous avons qu’il sache marcher, faire du vélo et que son épilepsie est pour l’instant contrôlée.
Nous sommes une famille soudée et aimante.
Sacha was born in 2013, the pregnancy went well. He was born at term, without any complications. He walked at 14 months. The disease began before she was 2 years old. He fell a lot without putting his hands forward, he stared at the lights, he always sat looking at books.
He started his first epileptic seizure (grand mal type) at 21 months. I found his nap very long, when I went to see him in his room, he was paralyzed on one side.
After that, every 2, 3 days he had epilepsy ailments. His seizures lasted about 1 hour. He also had absence-type seizures.
Our second home was the hospital!
I decided to contact Professor NABBOUT in Paris. The day after my email, we had an appointment with her. She set up a second Likozam treatment in addition to the diacomit he already had. This changed our life, the epileptic illnesses have spaced out and now Sacha has not had any for 3 years. We received the genetic tests in 2018 informing us that Sacha had a KCNA2 genetic mutation. We, his parents, are not carriers of this genetic mutation. (We still don’t know if this is a loss or gain of function).
Sacha is in ulis CE1 class with SESSAD follow-up (speech therapist, occupational therapist, psychologist, orthoptist). He has a significant mental retardation, he is dyspraxic, behavioral disorder, motor problem, moderate autistic disorder.
It evolves at its own pace. He is a very endearing little boy.
We know how fortunate we are that he can walk, cycle and have epilepsy under control.
Sacha’s Story is brought to you in both:
Sacha est né en 2013, La grossesse s’est bien passée. Il est né à terme, sans aucune complication. Il a marché à 14 mois. La maladie a commencé avant l’âge de 2 ans. Il tombait beaucoup sans mettre ses mains en avant, il fixait les lumières, il restait toujours assis à regarder des livres.
Il a commencé sa première crise d’épilepsie(type grand mal) à 21 mois. Je trouvais sa sieste très longue, lorsque j’ai été le voir dans sa chambre, il était paralysé dun côté.
Après cela, tous les 2, 3 jours il faisait des mals épileptiques. Ses crises d’épilepsies durait environ 1 heure. Il faisait aussi des crises type absence.
Notre deuxième maison était l’hôpital !
Jai décidé de prendre contact avec le professeur NABBOUT à Paris. Nous avons eu dès le lendemain de mon mail, un rdv avec elle. Elle a mis en place un deuxième traitement Likozam en plus du diacomit qu’il avait déjà. Cela à changer notre vie, les mals epileptiques se sont espacés et maintenant cela fait 3 ans que Sacha n’en a pas eu. Nous avons reçu les tests génétiques en 2018 nous informant que Sacha avait une mutation génétique KCNA2. Nous, ses parents ne sommes pas porteur de cette mutation génétique. (Nous ne savons toujours pas si c’est une perte ou gain de fonction).
Sacha est en classe ulis CE1 avec suivi SESSAD (orthophoniste, ergothérapeute, psychologue, orthoptiste). Il a un retard mentale important, il est dyspraxique, trouble du comportement, problème de motricité, trouble autistique modéré.
Il évolue à son rythme. C’est un petit garçon très attachant.
Nous savons la chance que nous avons qu’il sache marcher, faire du vélo et que son épilepsie est pour l’instant contrôlée.
Nous sommes une famille soudée et aimante.
Sacha was born in 2013, the pregnancy went well. He was born at term, without any complications. He walked at 14 months. The disease began before he was 2 years old. He fell a lot without putting his hands forward, he stared at the lights, he always sat looking at books.
He started his first epileptic seizure (grand mal type) at 21 months. I found his nap very long, when I went to see him in his room, he was paralyzed on one side.
After that, every 2, 3 days he had epilepsy ailments. His seizures lasted about 1 hour. He also had absence-type seizures.
Our second home was the hospital!
I decided to contact Professor Nabbout in Paris. The day after my email, we had an appointment with her. She set up a second Likozam treatment in addition to the diacomit he already had. This changed our life, the epileptic illnesses have spaced out and now Sacha has not had any for 3 years. We received the genetic tests in 2018 informing us that Sacha had a KCNA2 genetic mutation. We, his parents, are not carriers of this genetic mutation. (We still don’t know if this is a loss or gain of function).
Sacha is in ulis CE1 class with SESSAD follow-up (speech therapist, occupational therapist, psychologist, orthoptist). He has a significant mental retardation, he is dyspraxic, behavioral disorder, motor problem, moderate autistic disorder.
It evolves at its own pace. He is a very endearing little boy.
We know how fortunate we are that he can walk, cycle and have epilepsy under control.
