The Journey We Are On.....

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...