English & French: "Finding Hope"

This is our story, the story of a child, waiting for 8 years and then this birth, which we give joy to finally be parents. We do not know how one becomes a parent; you learn to be – our natural instinct to guide us this far...

English & French: "Finding Hope"
Manuela Hernandez ~ Juliano's Mom,
France

This is our story, the story of a child, waiting for 8 years and then this birth, which we give joy to finally be parents. We do not know how one becomes a parent; you learn to be – our natural instinct to guide us this far. Around the age of six months Juliano roost with eyes in the air at the time of dripping!!! The pediatrician did not see fit to make examinations and then Juliano moved into the house with a trotter pretty quickly.  It was not until around the age of 15 months that I realized that something was not going well. My pediatrician told me not to worry, that boys are slower than girls to walk and to talk!!!! Around the age of 27 months I require careful consideration and there the nightmare begins.  Echenne neurologist Professor of Chauliac Guy’s Hospital of Montpellier in France requires an EEG and a scanner and conventional examinations X fragile. etc … Referrals for 3 years in psychiatry and of course also the hell reviews of all syndromes that exist in the world: Angelman, schizo, ….. Nothing! Again! I demand he has to pass the test for autism, the behavior!!!! Anything either pervasive or personality disorders (PDD) in genetics and continue to find nothing in all its stages. Juliano is already 6 years old and still nothing definite. We participated in a research protocol 2 years ago and there we finally had a diagnosis in March 2015 when Juliano was then 8 years old. Syngap1 says Dr. Willems geneticist.  So I ask questions that are unanswered or vague in response. In the month of August 2015 I made a quite extraordinary encounter by chance with Monica Dudley via Facebook.

Although I do not speak English I could get more answers from him and she especially helped discover that my child had epilepsy. The great doctors were not seen by diagnosing, rather anxiety attacks in September 2014 when I went to the emergency room. With this diagnosis Juliano started the micropakine antiepileptic therapy for 1 month to a 500 Mg morning dosing and 500 Mg evening dose. He continues to have epilepsy and after the neurologist agreed we will administer lamictal to complement the micropakine. Juliano is an extraordinary child and he proves it to me every day, despite its new treatment that is heavy, he accepted all the changes around it: new school, new teacher, and new schedule and is a very happy child full of resource. Discovery Syngap 1 gene came consolidate me in the idea that since the age of six months was Juliano epilepsy and nobody has seen it. I fully believe that epilepsy does damage. The French neurologist and geneticist say unlike the doctor Rumbaugh that epilepsy is no damage and is the result of a brain disease. It is important not to antagonize!!!! Juliano said more words now before he lost the overall pronunciation of certain words like dad and coffee. So here I think in six months a significant cognitive improvement we will be able to observe as Juliano was eventually interfere with epilepsy. What we expect of a research program is to help us help our children as for parents suffering the worst, is to live by seeing her child suffer. I know we have a real and serious track and I will not drop.  Especially I could never thank Monica enough for the help she gives me. Despite the language barrier we come to understand us because our engine is love for our child. Thanks for your attention.

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