Savannah was born in 2005. She was full-term, and weighed 9 pounds, 9 ounces. She was my 3rd of four children and my largest baby.
She was jaundice at birth, which quickly resolved. She had reflux requiring medication. She was also followed by Cardiology for a heart murmur.
She was a sweet baby, always hugging, kissing and happy. She cleared normal milestones like crawling, walking and potty training. She was speaking words and family names, but around 2 yrs old it appeared she was behind with her speech and started to regress. She was referred to a state clinic for children with developmental delays. The neurologist ran blood tests to make sure she didn't have elevated metals, since she put everything in her mouth (this continues to be a problem). It was considered she may have Pervasive Developmental Disorder which is along the Austism spectrum. I disagreed with this as she had no issues socializing.
I decided to take her to a private Neurologist for a second opinion. An MRI and EEG were done. The MRI was normal, but the EEG came back abnormal.
She was started on seizure medications as she did present with staring spells/absence seizures. Learning and speech continued to be an upward battle as one moment she would have a concept and the next it was gone. She would take one medication for awhile and then we would switch based upon regression and noted staring spells.
The search continued for the cause of Savannah's global delays. Metabolic testing was negative. Two years ago we agreed to genetic testing which confirmed the KCNB1 gene mutation.
Due to Savannah's increased agitation and aggression a year and half ago, it was decided to take Savannah off her seizure medication Depakote. It was nice to see some of the old Savannah back - overall happy and sweet. Just this past August, Savannah started presenting with grand mal seizures in her sleep. At first we opted not to start seizure meds due to poor response to meds in this population. Unfortunately, the seizures have continued and she is now on Keppra. We have also started her on Sertraline for extreme mood swings. Not clear if this is all part of puberty or just the instability in her brain.
Her general deficits from early on have been poor muscle tone (especially in the mouth), poor fine motor skills, speech delay and cognitive delays which lead to daily frustrations and poor management of her emotions. She has a high pain tolerance. Until a few years ago, she had a poor appetite, always falling under 50% for weight and height. She struggles with personal space and has ADHD. She deals with constipation that requires daily fiber.
Savannah is a cheerful 11-year-old who loves to be social. She loves animals. She enjoys her daily routine of taking the bus to Middle School and spending the day with her main class and integrating into some of the regular Middle School classes with her "Buddies".
She has achieved riding a bike with training wheels, swimming, skiing, writing letters of the alphabet and her name, and sign language. She loves puzzles and coloring. Although she is cognitively delayed, she has an amazing awareness of what is going on around her and responds accordingly.
She was jaundice at birth, which quickly resolved. She had reflux requiring medication. She was also followed by Cardiology for a heart murmur.
She was a sweet baby, always hugging, kissing and happy. She cleared normal milestones like crawling, walking and potty training. She was speaking words and family names, but around 2 yrs old it appeared she was behind with her speech and started to regress. She was referred to a state clinic for children with developmental delays. The neurologist ran blood tests to make sure she didn't have elevated metals, since she put everything in her mouth (this continues to be a problem). It was considered she may have Pervasive Developmental Disorder which is along the Austism spectrum. I disagreed with this as she had no issues socializing.
I decided to take her to a private Neurologist for a second opinion. An MRI and EEG were done. The MRI was normal, but the EEG came back abnormal.
She was started on seizure medications as she did present with staring spells/absence seizures. Learning and speech continued to be an upward battle as one moment she would have a concept and the next it was gone. She would take one medication for awhile and then we would switch based upon regression and noted staring spells.
The search continued for the cause of Savannah's global delays. Metabolic testing was negative. Two years ago we agreed to genetic testing which confirmed the KCNB1 gene mutation.
Due to Savannah's increased agitation and aggression a year and half ago, it was decided to take Savannah off her seizure medication Depakote. It was nice to see some of the old Savannah back - overall happy and sweet. Just this past August, Savannah started presenting with grand mal seizures in her sleep. At first we opted not to start seizure meds due to poor response to meds in this population. Unfortunately, the seizures have continued and she is now on Keppra. We have also started her on Sertraline for extreme mood swings. Not clear if this is all part of puberty or just the instability in her brain.
Her general deficits from early on have been poor muscle tone (especially in the mouth), poor fine motor skills, speech delay and cognitive delays which lead to daily frustrations and poor management of her emotions. She has a high pain tolerance. Until a few years ago, she had a poor appetite, always falling under 50% for weight and height. She struggles with personal space and has ADHD. She deals with constipation that requires daily fiber.
Savannah is a cheerful 11-year-old who loves to be social. She loves animals. She enjoys her daily routine of taking the bus to Middle School and spending the day with her main class and integrating into some of the regular Middle School classes with her "Buddies".
She has achieved riding a bike with training wheels, swimming, skiing, writing letters of the alphabet and her name, and sign language. She loves puzzles and coloring. Although she is cognitively delayed, she has an amazing awareness of what is going on around her and responds accordingly.