Delaney was born in 2007. She was a completely normal baby and hit all her milestones, however, she took 3 naps a day. We knew this was unusual, but we just assumed this would pass. At her 2 year old Well Visit, the pediatrician brought to our attention that Delaney’s speech was delayed and enrolled us with the Early Intervention Program through the state of Arizona where Delaney began to have weekly therapies for speech, physical therapy, and behavioral therapy. Around 2 ½ years old, we noticed that Delaney stopped progressing and even began to regress, especially with her coordination. After seeing many developmental pediatricians and having a normal MRI, we were finally advised to see a neurologist.
During our first stay in the PEMU unit, the EEG monitoring device picked up 2 subclinical seizures that neither I nor my husband noticed during the test. We were told by the hospital neurologist to not medicate for the seizures since there was no behavior change during these seizures and it would be difficult to observe any improvements from the medication. When we met again with our neurologist, she gave us the choice whether to medicate or not since Delaney’s EEG showed generalized spike-wave polyspike discharges with background slowing, and she felt that Delaney was at a great risk for having her future development delayed from all this abnormal brain activity. Delaney started on Keppra, but developed a stutter and began to roll her eyes into the back of her head, so we were advised to wean her off so we could change to Depakote. During that week, Delaney had her first and only grand-mal seizure. The seizure itself only lasted about one minute, but it took her over 45 minutes after the seizure to regain her awareness. We started her on the Depakote and her seizures appeared to be controlled. We continued our quest to get a formal diagnosis for Delaney and were eventually referred to the TGEN Lab here in Phoenix. TGEN performed a Whole Exome Sequencing on Delaney, as well as my husband and me, and this gave us the diagnosis of KCNB1 with a variant of R306C in October of 2014.
Delaney is now 9 years old, but developmentally about 4 years old. She still isn’t able to dress herself or write her name. She seems to have an academic concept one minute and then it is gone the next. Delaney suffers from severe developmental delays, autistic behaviors, hyperactivity, inattention, apraxia, and pica. Delaney has a lot of behaviors and cries quite often, similar to that of a toddler. She is in a special education classroom at her school, but only attends until 12:30pm so she can go home to nap. Delaney does have a heart murmur and has a yearly EKG which have all been normal. Other issues to note: drooling, teeth grinding in sleep, mottled skin at random times, and rapid eye blinking that is not seizure related. Delaney takes 250 mg of Depakote twice daily and her seizures still appear to be controlled even though her EEG continues to show a constant spike-wave pattern.
Overall, Delaney is a happy girl that LOVES playing with her baby dolls, ‘harassing’ her little sister, Mollie, and is a Ranch salad dressing connoisseur.
During our first stay in the PEMU unit, the EEG monitoring device picked up 2 subclinical seizures that neither I nor my husband noticed during the test. We were told by the hospital neurologist to not medicate for the seizures since there was no behavior change during these seizures and it would be difficult to observe any improvements from the medication. When we met again with our neurologist, she gave us the choice whether to medicate or not since Delaney’s EEG showed generalized spike-wave polyspike discharges with background slowing, and she felt that Delaney was at a great risk for having her future development delayed from all this abnormal brain activity. Delaney started on Keppra, but developed a stutter and began to roll her eyes into the back of her head, so we were advised to wean her off so we could change to Depakote. During that week, Delaney had her first and only grand-mal seizure. The seizure itself only lasted about one minute, but it took her over 45 minutes after the seizure to regain her awareness. We started her on the Depakote and her seizures appeared to be controlled. We continued our quest to get a formal diagnosis for Delaney and were eventually referred to the TGEN Lab here in Phoenix. TGEN performed a Whole Exome Sequencing on Delaney, as well as my husband and me, and this gave us the diagnosis of KCNB1 with a variant of R306C in October of 2014.
Delaney is now 9 years old, but developmentally about 4 years old. She still isn’t able to dress herself or write her name. She seems to have an academic concept one minute and then it is gone the next. Delaney suffers from severe developmental delays, autistic behaviors, hyperactivity, inattention, apraxia, and pica. Delaney has a lot of behaviors and cries quite often, similar to that of a toddler. She is in a special education classroom at her school, but only attends until 12:30pm so she can go home to nap. Delaney does have a heart murmur and has a yearly EKG which have all been normal. Other issues to note: drooling, teeth grinding in sleep, mottled skin at random times, and rapid eye blinking that is not seizure related. Delaney takes 250 mg of Depakote twice daily and her seizures still appear to be controlled even though her EEG continues to show a constant spike-wave pattern.
Overall, Delaney is a happy girl that LOVES playing with her baby dolls, ‘harassing’ her little sister, Mollie, and is a Ranch salad dressing connoisseur.