Story submitted - 2020
Lisa was born in Ukraine in November of 2013 at 38 weeks gestation by cesarean section. At first glance, she was no different from any other child except for a small face and small weight (2500g). Lisa was slightly behind in physical development, she had hip dysplasia. Lisa began to sit at 9 months old, went at 1.5 years old. She did not say words until 1 year old only then mamama and papapa without sense. Her appetite was excellent, had breast milk for up to 1 year plus another meal.
Lisa was born in Ukraine in November of 2013 at 38 weeks gestation by cesarean section. At first glance, she was no different from any other child except for a small face and small weight (2500g). Lisa was slightly behind in physical development, she had hip dysplasia. Lisa began to sit at 9 months old, went at 1.5 years old. She did not say words until 1 year old only then mamama and papapa without sense. Her appetite was excellent, had breast milk for up to 1 year plus another meal.
When she turned 1 years old, on her birthday she woke up in a strange state her body was stretched out, her arms were limp, her eyes looked upward and right and often swallowed saliva. We called an ambulance and she was put into intensive care, Sibazon was administered intramuscularly, she fell asleep and when Lisa woke up everything was fine and we were sent home. After 3 weeks the attack was repeated, we were hospitalized and diagnosed with epilepsy. The doctor prescribed the drug Depakin it did not help, then it was Levicitam and recommended for a genetics consultation.
The geneticist said there are genetic abnormalities but what kind of syndrome she could not say. Levicitam hadn’t helped very well. We consulted with many geneticists and neuropathologists but no one could make a diagnosis so 2 years passed we found a professor in Belgium and went there, the professor examined her and voiced the syndrome. To confirm we did a genetic test he confirmed the diagnoses of Nicolaides-Baraitser Syndrome. The professor prescribed Carbamazepine. Lisa used it for 2 years then we gradually removed this drug since there were no seizures.
At 4.5 years old Lisa had an operation performed to remove an umbilical hernia. Lisa is now 6.5 years old she does not talk, does not ask for a toilet, but she is a very active child, loves to travel, disassemble toys and look at mechanisms. She often smiles, is very funny and laughs a lot. Often it seems to us, parents and relatives that she does not understand what we are telling her. In fact, she understands a lot and does only what is interesting to her, and not to someone who asks her to do something. Physically she is different from other children a small head for her age, sparse hair, increased joints on the arms, foots, knees. On the back an increased amount of hair, a mouth larger than usual, increased appetite (after 3 hours after eating, she is again hungry, likes delicious food, meat, sausages, chocolate, etc.). There are no attacks now, Lisa goes to kindergarten, in a special group. She is seen by a psychologist, speech therapist, but the results are small. Lisa gets tired very quickly and she does not have the patience to sit in one place for a long time. But her energy is very big, she is like sun, and we are happy to have such amazing baby.
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