The Journey We Are On.....

Thursday morning Ethan had a previously scheduled EEG, that had been ordered a couple of months back when all the crazy seizure breakthrough stuff begun. Obviously, the hope was that enough time would pass and that the medications would be working well and that the EEG would show that Ethan's seizure activity would be "under control." Since the last five to six weeks have been a real rollercoaster in terms of Ethan's seizures and so we weren't really sure what the EEG would show us. EEG's are stressful for Ethan. He is sleep deprived, to start with, and then he is held down so that more than 20 electrodes are attached to his head. Then we have to try to make him sleep and not allow him to pull the electrodes off of his head. Ethan gets extremely agitated because he is being held down and people are touching him. After that, he is pretty exhausted from fighting and typically is able to eventually rest for the test. It is preferable for an individua...

Ethan was so tired tonight. He had a busy day at school, which also included a field trip to Bass Pro to meet Santa and to go bowling, and then this evening we had our first visit to the Playhouse Children's Museum. More importantly though, here's a quick medical update: We are thankful to report that for the last two days no one has seen any seizures, so we are hoping and praying that this most recent increase in his medications might be making a difference. Our current neurologist (the one who is 2 hours away) called in a stronger dose for the diazepam. Ethan had been prescribed a 2.5 mg dose by the neurologist who saw him when he was hospitalized last month, but since it has not stopped the seizures the last 2 times it was administered, our neurologist calculated that a 7.5 mg dose is more appropriate for his weight.  So our hope is that the new dose will stop the cluster seizures, if they occur again. Obviously, the goal is to not have a need to use the...

Yesterday, our family got to take another trip to the ER. Just a little after 7am, after I had fed Ethan breakfast and gave him his morning medications, he and I came into the living room to play before we had to get ready to leave for school. Ethan had 5 seizures, each lasting 10 to 15 seconds, back to back. Jeff had not yet left for work so I had him get the Diazepam, Ethan's rescue medication, and we gave it to him. The Diazepam is supposed to stop the cluster seizures, but it didn't. The seizures continued and didn't show any signs of stopping so the three of us packed up and headed off to the ER. By the time we arrived at the ER the drowsiness that is a side effect of the Diazepam was very evident, and although Ethan wasn't sleeping, he was definitely out of it. He had another small seizure shortly after we got to the hospital while we were being checked in. Once again his vitals were monitored and blood taken. The doctor spoke on the phone with our neurologist...

On Wednesday, I got a call from Ethan's school that he was had a cluster of uncontrollable seizures, that lasted about 4 minutes, so I went and got him from school and brought him home. He was exhausted and rested a majority of the day, but we didn't see another seizure all night. Yesterday, I decided to keep Ethan home from school and let him continue to rest, because he slept in and seemed extremely tired. We had a nice pajama day here at home, he was extra affectionate and took a really good afternoon nap. We didn't see any seizures all day. This morning Ethan woke up and seemed well rested and was acting like his usual self, so I took him to school. School begins at 8:30am and just about an hour later I got a call from his teacher letting me know that Ethan had had another seizure episode and that it lasted over 5 minutes so the nurse had given him the rectal Diazepam. Of course, I was freaked out and I let them know that I would be there as soon as possible. As I ...

Shortly after Ethan woke up on Saturday, November 20th he began having seizures. He had three while he was sitting on the potty, right after waking up. At first I wasn't overly concerned because I knew that after he went to the bathroom I'd be feeding him and he would get his morning meds, so perhaps the seizures were simply because the previous night's medication had worn off.  I took Ethan to the living room to play while I got everything ready for his breakfast, but within a minute or two Ethan began crying, which he rarely does unless there is a something wrong. I picked him up but couldn't soothe him and he was seizing again. I woke up Jeff and he tried to comfort Ethan while I finished getting everything ready so I could feed him and get him his medications. Ethan continued to cry, have a seizure, cry, have a seizure, etc. The seizures were coming in clusters. So, we got his breakfast in him, via his tube, and while we were feeding him we decided that we would ...

Seizures, seizures, seizures! Our lives have started to revolve around these horrific episodes. Not all children with PBD-ZSD develop seizures, and for almost three years we thought Ethan might be one of those kids, but unfortunately shortly before his third birthday he began having them. We had to find the right medication and steroid balance, which took a little bit, but in reality it didn't take that long and then they were under control. Thankfully, this remained true for over two years. However, a couple of months ago they decided they were going to return and return with a vengeance.  A few months ago when the seizures first began breaking through the neurologist had us begin to increase his dose of Keppra while we waited to get an appointment with her. There is a huge shortage of pediatric neurologists in downstate (outside of Chicago) Illinois, put that is a rant for another time. So, we increased the Keppra , but the seizures continued to breakthrough, so the neurolog...

It's been a pretty rough two weeks in the PBD-ZSD community. Three families I'm connected with via the Global Foundation for Peroxisomal Disorders (GFPD) have had to say goodbye to their children, who bravely fought PBD-ZSD but whose time here on Earth had come to an end, and other parents in our group are currently trying to prepare themselves for the reality that their child may not be with them much longer. Although we, the GFPD, will never be able to connect with all the families that this horrific disease affects, we know that an estimated 80 babies are born in the US each year with PBD-ZSD and while we can treat some of the symptoms, we, the parents and our children, are desperately in need of more effective treatment options and ultimately a cure. In the midst of the sadness that is engulfing the PBD-ZSD community, several other disease communities have a reason to be hopefully. Recent articles about potential breakthroughs in the treatment of Neimann Pick Type C , B...