Finding Hope

Our story of a child waiting for eight years and then this birth, which we finally give the joy to being parents. We do not know how one becomes a parent; you learn to be – our instinct guides us this far. The pediatrician did not see fit to make examinations, and then Juliano moved into the house with a trotter pretty quickly. Around six months, Juliano roosts with eyes in the air when dripping!!! It was not until around 15 months that I realized something was not going well.

My pediatrician told me not to worry, that boys are slower than girls in walking and talking!! Around the age of 27 months, I require careful consideration, and there the nightmare begins. Echenne, neurologist Professor of Chauliac Gui’s Hospital of Montpellier in France, requires an EEG, a scanner, and conventional examinations of Fragile-X, etc. Referrals for three years in psychiatry and, of course, the hell reviews of all syndromes that exist in the world: Angelman and schizophrenia. 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 six years old and still nothing definite.

In August 2015, I had a pretty extraordinary encounter by chance with Monica Dudley via Facebook. We participated in a research protocol two years ago, and there we finally had a diagnosis in March 2015, when Juliano was then eight years old. SYNGAP1 says Dr. Willems, the geneticist. So I ask questions that are unanswered or vague in response.

Although I do not speak English, I could get more answers from him, and she significantly helped me discover that my child had epilepsy. The great doctors had not seen me for diagnosing anxiety attacks in September 2014 when I went to the emergency room. With this diagnosis, Juliano started the micropakine (Sodium Valproate) antiepileptic therapy for one month with a 500 Mg morning dosing and 500 Mg evening dose. He continues to have epilepsy after the neurologist agreed we would administer Lamictal to complement the micropakine. Juliano is an extraordinary child, and he proves it to me every day; despite his heavy new treatment, he accepts all the changes around it: new school, new teacher, and new schedule and is a delighted child full of resources.

The discovery SYNGAP1 gene consolidated me in the idea that since the age of six months, Juliano has had epilepsy, and nobody has seen it. I fully believe that epilepsy does damage.

The French neurologist and geneticist say, unlike Dr. Rumbaugh that epilepsy is not damaged and is the result of 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 interfering 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 their child suffer. I know we have a real and severe track, and I will not drop.

Mainly, I could never thank Monica enough for the help she gave me. Despite the language barrier, we come to understand ourselves because our engine is love for our child.