Story submitted - 2020
Vitória was born November 2011, it was a quiet pregnancy, despite being at risk because of my age (46 years), Vitória is a twin, but her partner stopped developing at three months of gestation. Vitória was born at 39 weeks of gestation weighing 3,355 kg. Measuring 49cm. Her eyes were very swollen and were born glued with a discharge and her ears were also glued together, but when it was cleaned, everything was resolved, the eyes opened and the ears became normal.
Vitória was born November 2011, it was a quiet pregnancy, despite being at risk because of my age (46 years), Vitória is a twin, but her partner stopped developing at three months of gestation. Vitória was born at 39 weeks of gestation weighing 3,355 kg. Measuring 49cm. Her eyes were very swollen and were born glued with a discharge and her ears were also glued together, but when it was cleaned, everything was resolved, the eyes opened and the ears became normal.
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Vivi (as we call her) suckled her breast for only a month, and sucked it without force so she started losing weight, then the pediatrician added Nan milk and she regained her weight, she had many cramps that were relieved with Funchicória, a natural medication to based on fennel (fennel), at four months she was already sitting alone and at six months she was crawling, but her motor coordination and physiognomy told us that she would be different, with one year and four months she started walking on her knees, until she was running on her knees, afraid to stand alone.
At the age of 1 year and 9 months, the first seizure came, in the hospital they said the seizure was feverish, because she had a fever. A week later came the second seizure and total despair, because she did not have a fever, we spent a week hospitalized and on the second day of hospitalization came the third and last seizure so far, in view of the apparent behavior problems, we left for research and exams. We did the Karyotype exam with band G and the result was normal. Sequencing of the exome was carried out, which showed the variant in the SMARCA2 gene. Bearing in mind that it was Coffin-Siris Syndrome or Nicolaides-Baraitser Syndrome, together with Syndromic Autism, we have already tested several medications until we reach the daily treatment of: Phenobarbital, Aripripazole, Haldal and Valium.
At the age of 1 year and 9 months, the first seizure came, in the hospital they said the seizure was feverish, because she had a fever. A week later came the second seizure and total despair, because she did not have a fever, we spent a week hospitalized and on the second day of hospitalization came the third and last seizure so far, in view of the apparent behavior problems, we left for research and exams. We did the Karyotype exam with band G and the result was normal. Sequencing of the exome was carried out, which showed the variant in the SMARCA2 gene. Bearing in mind that it was Coffin-Siris Syndrome or Nicolaides-Baraitser Syndrome, together with Syndromic Autism, we have already tested several medications until we reach the daily treatment of: Phenobarbital, Aripripazole, Haldal and Valium.
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From a very early age, she did therapies for motor and behavioral coordination: psychomotricity, swimming, occupational therapy, physiotherapy and equine therapy. Vivi spoke words and recognized objects, counted to 10 and sang songs from the drawings she liked most (ex: Luna's show), to few she became totally non-verbal and is still today, we do not know if one day she will speak and sing again, despite not creating any expectations, I would be very happy if that happened. Today Vivi has many stimulating activities: ABA Therapy, which add the following therapies: occupational, behavioral therapy, physical education, music, physiotherapy, speech therapy and equine therapy. In addition to the classes at the inclusion school very well structured to add up with all therapies. Therapies are divided into 4 days a week, over a period of 3 hours a day plus a 4 hour class period every day of the week. It is a complete routine of activities. She learns by playing. Vivi is interacting in a surprising way with society, its development is advancing in a very satisfactory way.
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Vivi is a sweet, caring child, she likes to receive and give affection, kisses, hugs and to stay close, always smiling and happy, she is very organized, nothing can be out of place, she eats very well from all solid foods. Now 8 years old, she weighs 24 kg and measures approximately 1 meter and 30 centimeters, she is a tall child by the syndrome's standards. Vivi is a blessing in my life, I am a full-time father and mother and I love it, she has two adult brothers, David with 26 years old and Rebeca with 25 years old, Vitória is our xodó, our preciousness, our blessing in this life. Love defines everything.
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I didn't know about the existence of so many of these blessed children, when I received the diagnosis, there were only 100 cases in the world and today I am very happy to discover that this family is much bigger and this experience is very rewarding, where we can exchange information and form a large family blessed by God! I feel privileged by this mission, which has taught me to be a better person and that makes my days happier.
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