Becca and I talked about it and knowing that there is not a whole lot that could be done if this is an indication of NCL, we elected to not pass the information about the seizure along until we found out the results of the genetic testing that Joyanna and Ethan had a few weeks ago to check and see if they have NCL like Philip does. We are expecting to get those results as soon as this week.
Over the next few days and through the weekend, we continued to see some small seizures—maybe every couple hours. Given Philip’s progression with NCL, we kind of expected the seizures to get worse over the next few months. However, things escalated much faster than either of us could have imagined.
This morning, Becca called me at work. Joyanna had just had a pretty severe tonic-clonic seizure. It only lasted a few minutes but it would have been the typical convulsions you would think of when you think of seizures. During this time Joyanna lost consciousness and had difficulty breathing. After the seizure stopped Joyanna began to return to her normal self and within 10-15 minutes it was as if nothing had happened.
Because of the violence of the seizure and the consciousness and breathing issues we decided that we needed to take Joyanna to the ER to get checked out and to start the process of seizure treatment. After a few hours in the ER today, she was allowed to go home. She has been started on a seizure medication, she will get scheduled for an MRI and EEG, and we will keep in close communication with Philip’s epileptologist---who is now Joyanna’s epileptologist.
We are still waiting for the final word from the genetic testing, but we fully expect that Joyanna will be diagnosed with NCL. At this point we are not sure how she can have the enzyme present that indicated she did not have NCL, but yet she appears to be having all the symptoms of it. Hopefully we will get some answers this week from genetics.
Joyanna is lying beside me sleeping right now on the couch. She has been trying to be happy but it is very evident by her whimpering that she knows something is not quite right. We know this is the effects of the seizure med, but she just knows that she doesn’t feel quite right. She enjoyed the time singing tonight before Ethan went to bed and she was definitely happy with the prospect of eating ice cream. She was lying next to Philip while I was giving him his medicine and she reached out and tickled his feet—which he quickly withdrew. Just shows that her sense of humor is still there, even if it is hard to be happy.
We covet your prayers for our family. If we look toward the future, with two kids with NCL and the downward path that accompanies this diagnosis, it is completely overwhelming. We need to focus on today and trust God’s grace and strength to get through it, but that is easier said than done—especially when you have already had a kid walk the path that it would appear Joyanna is about to walk, and you have a pretty good idea what path lies ahead. It will be a hard road to go down, but we know the same God that has always taken care of us will continue to show Himself faithful.