The Journey We Are On.....

Monday was Rare Disease Day. We celebrated Rare Disease Day with our first visit to a pediatric epileptologist (epilepsy specialist) at the University of Iowa, Dr. Ciliberto. Jeff and I liked the doctor and his team. He spent a lot of time with us and although he didn't have a magic solution, we were glad that we at least have a plan. Ethan is currently taking Keppra, Phenobarbital, and Topamax for his seizures and we have rectal Diazepam that we use as a rescue medication when needed. February was a difficult month and we have needed to use the Diazepam on multiple occasions. Due to a cancellation, Ethan was able to have his sleep study last week, which confirmed that he has mild sleep apnea, which could be contributing to the increase of seizures, especially while he is sleeping. While we don't enjoy the risks associated with surgery, we are working towards being able to schedule the removal of Ethan's tonsils and adenoids. The hope is that their removal may decrease...

The last week and a half have been stressful for us, filled with seizures, sickness, and doctor appointments. Wednesday, February 10th -- Ethan woke up crying and seizing. Jeff had not yet left for work so he helped me administer Ethan's rescue medication when the seizure clusters continued for more than five minutes. The diazepam worked, but it took about 8 minutes for the seizures to stop and for Ethan to fall asleep (a side effect of the medication). After we were sure that Ethan was safe Jeff went ahead and went to work. Ethan slept for a little bit and then was up and about playing, but was still pretty tired and not seeming to be 100% back to his normal. I called the pediatrician, to let her know that we had to use the diazepam and to see if we could bring Ethan in to make sure nothing else was going on. There weren't any appointments available for that day with our pediatrician, and while we could have seen another doctor in the practice, I decided it would be bette...

PBD-ZSD affects every child differently. In the first year of Ethan's life, when he was meeting a few of his gross milestones not all that far behind schedule we hoped and prayed that Ethan would end up developing the skills and abilities that would put him on the milder end of the spectrum of the disease. However, as he continued to fall further and further behind, develop additional health challenges, and faced multiple setbacks it became clear that Ethan's symptoms (or ability level) place him somewhere closer to the middle of the spectrum of severity for PBD-ZSD. Ethan will be 6 in July and while we are thrilled to say that Ethan can walk short distances independently, his balance and endurance continue to be a major issue. Since the return of the seizures late this past Fall, we have been fighting hard to keep the mobility that he has fought so hard to achieve.  One of the things that Ethan has been working on for months, both at school and at outpatient PT is ridi...

The end of January and the beginning of February have been marked by time with family, several doctor appointments and unfortunately more seizures. January 18th  It was Martin Luther King Jr. Day so Ethan didn't have school and Jeff had the day off from work. We spent the day as a family, and in the evening Ethan had a seizure that woke him from his sleep before we had transferred him to his bed.  January 20th We took Ethan to the dentist for his regularly scheduled cleaning. Ethan won't let us in his mouth to brush, so we have his teeth cleaned every 3 months instead of every six. As you might imagine, Ethan does not enjoy having his teeth cleaned. Jeff goes with us and sits in the chair with Ethan and I help hold him down/still while the dental hygienists work on our little guy. Thankfully, they are very good with him and let us dictate when Ethan needs a break. Ethan's dentist has shared with us that she has a brother (who is in his 30s now) with special need...

On the morning of Wednesday, January 13th around 8a.m., we checked in at our local children's hospital for a previously scheduled 24 hr EEG. Since Jeff needed to be at work we arranged for Jeff's dad to come up the night before and stay with Ethan and I at the hospital for part of the day on Wednesday, and for my mom to come up and spend the rest of the day with us at the hospital, until Jeff could join us after he got off of work. Since this was a previously scheduled EEG, I expected that things should go pretty smoothly, as far as being admitted to the pediatrics floor and getting the procedure started. Ethan has had EEGs in the past and it has never been pretty. He hates to be held down and having 26 electrodes attached to his head is not something he finds enjoyable (at all)! In the past the EEGs have lasted about an hour, and this time it was supposed to last 24 hrs!!!! We knew that this wasn't going to be pleasant. We knew that it was going to be rough.  Unfor...

It wasn't a great day for Ethan. Although he did okay at church, he had several seizures during his nap after we got home from church. For the last several days the seizures seem to be contained to nap time, and we have no idea why and this evening, Ethan was just not his usual self. It took him much longer than usual to fall asleep -- more than an hour later than what is pretty typical for him. We aren't really sure what is going on, but he did just have another medication change on Friday (the dose of Onfi continues to slowly decrease, as the dose of Phenobarbital continues to slowly increase) so that might be why he is acting different.  I am scared. I hate PBD-ZSD so much. I hate the seizures, I hate the physical and cognitive disabilities and the health issues that come with it. I hate that we don't yet have effective life-saving treatment options (or a cure). I hate that so many of my friends can no longer hug their children and kiss them goodnight, and I hate th...

As 2015 came to a close last night I couldn't help but think about all that has happened and how much has changed in the last twelve months. Ethan got his own car, thanks to the Metamora H.S. robotics team! Ethan had PT in the pool for the first time! We celebrated Rare Disease Day 2015! I spent the night away from Ethan for the first time EVER. I actually did this on two separate occasions. Jeff and Ethan did better the second time around then they did the first, but I'm so glad that I was able to go on the short trips, even if it took me away from them. The first was to OK where I was able to visit with two fellow PBD-ZSD families. For the second I road the train from Bloomington to Chicago for the first time and attended a NORD conference in Downtown Chicago.  Several dear close friends were forced to say goodbye to children who died because we still don't have life-saving treatment options for PBD-ZSD and thousands of other rare diseases. ...