Anna is a happy and loved 2 year old girl. She lives with her Mom, Dad, Sister and Grandpa in Framingham, Massachusetts. Her pregnancy was planned and she was a very expected baby. Everything was fine with the pregnancy and delivery. She was born in Brazil and was a beautiful and healthy baby. Since 4 months of age, we noticed that her development was different from her sister's. She wasn't reaching for toys or rolling, and was a very calm baby that was a good sleeper. She always preferred to lay on her back in the crib rather than being held. Her pediatrician said she was fine and she was just a lazy baby. By 6 months, she wasn't rolling or sitting yet and suddenly she stopped smiling and lost eye contact. She never responded to her name or sounds that we made to call her attention and seemed away and distant. When she was 8 months old, she had a vaccine shot and developed a fever. That was the time when she had her first generalized seizure. It was a really scary situation and we thought she was dead. We went to the ER and she stayed overnight for observation. We were told to be seen by a Neurologist. At that first appointment, the Neurologist recommended we start therapies immediately due to her low muscle tone. At first, it was that she had Autism. Then, she started having many kinds of tests: MRI, genetics, visual, auditory, metabolic, and everything came normal.
One month after her first febrile seizure, she started to have seizures with an unknown cause. She just stopped and stared, her lips turned blue and her body would lose tone and she would fall asleep right away. She started to take seizure medication (Phenobarb) and was seizure free for 2 months. Unfortunately, after that, she started to have seizures again and we have been trying to manage her medications. She has taken Trileptal, Valproic Acid and Keppra, but none of them have worked. She started to have other kinds of seizures and has also had terrible side effects, such as as mood changes and sleep problems. We are now using Onfi and Phenobarb, but are still decreasing the Keppra.
In January 2016, we received a clinical diagnosis of Atypical Rett Syndrome. As we were devastated by the diagnosis, we decided to move to to the US to live with family, in search of better medical treatment for Anna. Since we got here, she had a CMA and a NGS panel done. In August of 2016, she was diagnosed with Autism and started ABA sessions. She is also having PT, OT, Speech and therapeutic play through Early Intervention. She has Visual Therapy due to her CVI (Cortical Visual Impairment) diagnosis and Food Therapy for her Dysphagia and picky eating habits due to sensory issues. She is having trouble gaining weight, and a G-tube is being considered in the future. She also presents constipation and sleeping problems. Anna is not able to walk or sit without support, she uses braces, a gait trainer and an adaptive stroller for her mobility. She doesn't have purposeful use of her hands and can`t manipulate toys or objects. Some months ago, she started to present some regression of skills, lost interest in toys, in people and stopped smiling or playing. At the same time she is presenting uncontrolled body and hand movements.
Last December she was diagnosed with a de novo KCNB1 mutation.
One month after her first febrile seizure, she started to have seizures with an unknown cause. She just stopped and stared, her lips turned blue and her body would lose tone and she would fall asleep right away. She started to take seizure medication (Phenobarb) and was seizure free for 2 months. Unfortunately, after that, she started to have seizures again and we have been trying to manage her medications. She has taken Trileptal, Valproic Acid and Keppra, but none of them have worked. She started to have other kinds of seizures and has also had terrible side effects, such as as mood changes and sleep problems. We are now using Onfi and Phenobarb, but are still decreasing the Keppra.
In January 2016, we received a clinical diagnosis of Atypical Rett Syndrome. As we were devastated by the diagnosis, we decided to move to to the US to live with family, in search of better medical treatment for Anna. Since we got here, she had a CMA and a NGS panel done. In August of 2016, she was diagnosed with Autism and started ABA sessions. She is also having PT, OT, Speech and therapeutic play through Early Intervention. She has Visual Therapy due to her CVI (Cortical Visual Impairment) diagnosis and Food Therapy for her Dysphagia and picky eating habits due to sensory issues. She is having trouble gaining weight, and a G-tube is being considered in the future. She also presents constipation and sleeping problems. Anna is not able to walk or sit without support, she uses braces, a gait trainer and an adaptive stroller for her mobility. She doesn't have purposeful use of her hands and can`t manipulate toys or objects. Some months ago, she started to present some regression of skills, lost interest in toys, in people and stopped smiling or playing. At the same time she is presenting uncontrolled body and hand movements.
Last December she was diagnosed with a de novo KCNB1 mutation.