Joanna’s first seizure happened on July 2nd, the day that she turned 3 months old. We called 911 and we went to the hospital where she had an abnormal CT scan, and EEG right away which led to her being admitted for observation. She then had her second seizure the next morning it was after that second seziure that they determined that she needed to have an MRI done since the CT and EEG were both abnormal. The MRI, however, came back normal, and they decided to start her on Keppra (an anti-epileptic). They discharged her and diagnosed her with epilepsy and told us to follow up with a neurologist. She had another seizure on July 9th, and we ended up back in the hospital it was then that they decided to add a second medication and again told us to follow up with a neurologist. This was terrifying, because we were not familiar with epilepsy we assumed that medication meant seizure control.
We were very wrong and Joanna was admitted numerous times over the next couple weeks. When we were seen by the neurologist for the first time her recommended that we do genetic screening however, the other neurologists at Sacred Heart kept dismissing us, saying we couldn’t tell the difference between normal baby movements and seizures. In these very short 3 weeks we watched our baby completely regress. Her seizures were increasing in frequency, length and intensity. We thought that we were going to lose her, it was clear that it was so much more than “just epilespy”.
It was finally agreed that Sacred Heart could no longer meet Joanna’s needs, so we were transferred to Shands in Gainesville. While at Shands her seizures continued and her spark completely faded. She lost the ability to eat orally and had to rely on an NG tube. After 10 days at Shands we finally received her genetic screening results and we found out that she had SCN1A, SCN2A, and SCN3A deletions. This was so scary but actually provided me with so much relief. I wasn’t crazy, and something was wrong with my baby. This also allowed us to make adjustments to her medications that would work best with her genetic make up.
On August 4th we were discharged and sent home to figure out how to live with our new normal. Joanna had completely regressed back to a newborn developmentally. In October we decided to start Joanna on the therapeutic Ketogenic Diet. We finally started to see Joanna’s personality come back, this diet seemed to give her so much mental clarity. She was far from meeting developmental milestones but we didn’t care. We just cared that we had her for a bit longer.
Over the last 2 years Joanna’s seizures have been far from controlled. We have also had to accept the fact that SUDEP could take our baby at any time. This has reminded us to be present and to embrace every day no matter what it brings because that means that she is here with us.
Joanna has surpassed any and all expectations that have been placed on her. She is now sitting unassisted and is even starting to try to pull to a stand (with assistance). She is proof that these Dravet kids are true warriors and they can move mountains.
