Talia was born a healthy 8lb 1oz baby girl on October 10, 2012. Just 24 hours after birth Talia began having seizures...first her small body would just jerk a few times throughout the day. The nurses passed it off as an undeveloped nervous system...but our family didn't agree. She was discharged from the hospital with instructions to bring her to the pediatrician that day. After being seen by her
doctor we were told to bring her directly to All Children's Hospital for further testing. This was just the beginning of what would be a very long 4 months before a diagnosis would be made. Talia was admitted to the neonatal unit for observation, blood tests, cat scans, eeg's etc. She was started on the beginning of what would be many many seizure medications which would never seem to fully control the seizures. These meds would make her very sleepy....she would sleep day and night. The hospitalizations would be off and on throughout the next few months....with the final big hospitalization being when she was about 4 months old. The seizures at this time could not be stopped. This is called Status epilepticus. The neurologist was even stumped. Talia ended up in the pediatric ICU on a breathing tube. They had to stop her brain from misfiring. She spent over a month in the hospital. When Talia returned home she was on massive amounts of seizure medications. She was no longer the same baby. It seemed like she no longer looked at you, she no longer smiled. Results of the genetic testing finally came in at about this time. It showed SPTAN1 mutation. A very rare condition. Only about 4-5 other cases, therefore very little is known about it, except that the others all experienced seizures and that it affected the connections in the brain. With the seizures still not controlled...and on multiple medications we started Talia on a Ketogenic diet. She remained on this diet for many months...seizures still not in control...
At about 1 year old we decided to stop the Ketogenic diet...She is now on a toddler formula.. Talia attends physical therapy, occupational therapy and speech therapy three days a week. She does not sit alone, crawl or stand. They are unsure if Talia can see - possibly due to the massive number of seizures causing damage to that area of her brain which controls sight. We can only wait to see where Talia's journey will bring us...and hope that by sharing her story that people will become more aware of this rare genetic disorder. Who knows, with more awareness possibly a cure will come one day...
