July 12, 2013

EEG Results, Neurology & GI updates

This morning we all got up early and headed to the hospital for Ethan's second EEG and appointments with the Neurologist and the GI.

Ethan did not do as well getting ready and during the EEG. The preparation process, which includes attaching over 20 electrodes to his head was extremely traumatizing to our little boy today. He was so upset and there was nothing we could do to help him. After the prep work was done he needed to go to sleep for the test. Thankfully Jeff was able to lay down next to Ethan on the bed to try to soothe him and get him to sleep. Ethan probably cried for 20 minutes. He was so upset. It broke my heart. He finally fell asleep but stirred several times during the 30 minute "sleeping" portion of the test before waking up for good. He woke up crying and continued to do so through the 10 minutes of the awake test which has him looking at very bright flashing lights. I'm not sure Ethan even opened his eyes for this part because he was so upset. After it was over and the tech came back into the room I asked about that because I was concerned they wouldn't get results, but she said the lights are bright enough that it still works. Ethan was still very upset and she got off the electrodes as quickly as possibly so that we could try to comfort him. Thankfully once he was unattached to everything and in Jeff's arms Ethan was able to calm down. Then we used a really neat waterless shampoo to get most of the goo out of his hair.

Following the EEG we had a bit of time to waste until our Neurology appointment. We left the hospital and got Jimmy Johns for Jeff & I and then drove to the nearby park to have lunch. Although we stayed in the car we enjoyed the fresh air, beautiful weather and a little break from the hospital. We ate, I fed Ethan, and then it was time to head back.

I really like the Neurologist. Our "regular" neurologist is currently on a leave of absence so when we were hospitalized we met this one for the first time. Dr. N. is young and did her training in NYC and when we met her she shared that she has seen kids with PBD-ZSD before which isn't true of most doctors, since PBD-ZSD is so rare. She said she worked at a clinic that saw kids with all kinds of rare disorders who had seizures. We had hoped she would have good news for us today. Unfortunately she didn't. Ethan's EEG was still very abnormal. She did not feel like there had been any "improvement." So we will be increasing the seizure medicine in hope that this will make a difference. In a couple of weeks we will do a blood draw to test Ethan's liver function. If everything is okay we will increase the meds again however if this medicine is negatively impacting his liver we will have to switch to a different medicine. Dr. N. has also suggested that we should get a soft padded helmet for Ethan to protect his head. Our PT actually discussed this with me yesterday. Jeff and I agreed that although we don't look forward to our little guy in a helmet once again, that we must try to do everything we can to protect his head because he is still falling over a lot. His poor little head is covered in bruises. Dr. N. has written a prescription for the helmet and we will be going to see Mr. Andy at Prosthetic Orthotic Specialists who did his helmet when he was little and also does his AFOs next week to get the process of getting Ethan a helmet.  We also discussed Ethan's current dose of steroids and she said she would touch base with Ethan's endocrinologist to see if it might be time to increase his dose.  So we are going to increase his anti-seizure meds, do a blood draw in a couple of weeks, and unless anything changes we will see her again in 2 months when we repeat the EEG.

After we finished we headed back to the waiting room so Ethan could crawl around before the GI appointment. Ethan did okay for a while but then got fussy and there was still a while to wait so Jeff took off with Ethan in the stroller. Of course he was still gone when we got called back -- thankfully the GI was ready for us early. However, I couldn't find my Marshall Men so now the receptionists and I were all laughing about them leaving me. Thankfully after a few minutes I saw the boys coming down the hall and was able to tell them they needed to hustle because Dr. W. was ready for us.

Ethan really seems to like Dr. W. and Dr. W. seems to be pretty taken by our little guy to. Ethan reached out to him, stroked his face, and even "hugged" him! Dr. W. and his nurse replaced Ethan's button. The one that was in had developed a leak/hole in the balloon so it needed to be replaced. After that we discussed Ethan's growth, toleration of his formula, etc. Dr. W. is very happy with Ethan's growth. Ethan has gained over 3lbs. since the g-tube was placed in March and has grown more than inch taller. He is now back on the growth charts! He is 36 and 1/2 inches tall and weighs around 29 lbs! This puts him in the 10th percentile for height/weight. Dr. W. says that as long as we can keep Ethan anywhere from the 10th to 25th percentile he will be really happy. Ethan is still "catching" up but it is important that he doesn't gain to much too quickly and in reality he needs to stay relatively small because if he gets too heavy it will begin to interfere and possibly hinder his gross motor development. So at this time we won't be making any changes to his formula. We will followup with Dr. W. in a couple of months, hopefully on the same day we do the EEG and see Dr. N.

Once we were done with all of the appointments we left and made a stop at Babies R Us. Yesterday when I was talking with Ethan's PT about his falling and head dropping I shared with her that Ethan has been hurting himself in his crib -- he stands up in his crib and when he looses control of his head he hits it on the railing, she shared that she had to get a cover/pad for one of her kids because they would chew/bite the railing. She mentioned that Babies R Us had them. So, we stopped to find one. We also found a guard for our TV. Ethan has been changing the channels, volume and settings on the TV by hitting the touch panel on the bottom of the TV. I didn't even know they existed. Very excited! When we got home I put on the crib railing pad and gave it some extra padding by putting some baby blankets underneath to make it even softer. Hopefully with this new cushioning he won't hurt himself as much on the railing. At some point we will need to find a way to transition him out of his crib, most likely to a mattress inside of a tent -- for his safety, but we are hoping to hold off as long as possible.

Around 6:30 this evening I heard back from Ethan's Endocrinologist. After talking with Dr. G. she gave the okay to increase Ethan's daily dose of steroids a bit. We have an appointment with her in early August so she said she would reevaluate his dose them. So, tomorrow we will be increasing his morning dose of steroids from 2.5mg to 3.75mg. the evening dose will stay the same. We are praying that the increased dose of seizure medication in addition to the increased steroids will make a difference and that we will begin to see a decrease in the seizures.

Ethan went down easily this evening. Hopefully he will get a great nights sleep. Being at the hospital for most of the day is rough on all of us.

Prayer Requests

  • Pray that the increase in the anti-seizure medication and steroids will make a difference and that we will see a decrease in Ethan's seizures very very soon.
  • Pray that we won't have a problem with our insurance covering the new safety helmet and that Ethan will tolerate wearing it when we get it.
  • Pray for all families impacted by PBD-ZSD, the doctors, therapists, teachers, and caregivers who are part of the kids "team" and all of the researchers and specialists who have dedicated themselves to helping us help our children. 
  • Pray for a CURE!

July 10, 2013

Another new normal. Seizures.

I haven't written in a while. I tend not to write when things get crazy around here. After a somewhat quiet June, July started in a way we had not expected.

On Tuesday, July 1st I took Ethan to STEPS. Ethan seemed very happy to be back at school. I mentioned to his teachers that we had noticed that Ethan was loosing his balance a lot and sometimes lost control of his head. Jeff and I had been noticing this for several weeks and while we were very worried that it was most likely a symptom of the progression of PBD-ZSD we knew that if this was the case there was nothing we could do to stop it. PBD-ZSD is a form of leukodystrophy, and at this time science/medicine has not found a way for us to stop the loss/damage of the brain's white matter. We also knew that we'd be seeing several of the top PBD-ZSD specialists in North America at the end of July, so we didn't feel that this warranted an appointment with our "local" neurologist at this time. Although Ethan had been falling and/or losing head control for a split second or so it never seemed to bother him and in a blink of an eye he was back to normal Ethan as if nothing had happened. We were concerned and hoped that we would get some further explanation when Ethan was seen in clinic by the doctors at the GFPD Conference at the end of the month.

I had planned on walking in the park with my friend Stephanie while Ethan was at school. Unfortunately it had started to rain so we changed our plans and met at my house and torture ourselves by attempting a Jillian Michaels' workout video. She is one tough lady!! Shortly after we had finished I got a call from Ethan's school. Ethan had just had an "episode" at school. Ethan's Developmental Therapist/Teacher Dena explained that Ethan had been working with Julie, Ethan's Hearing Therapist/Teacher, and he fell back onto her leg (from sitting), his eyes rolled back into his head, he seemed "out of it" for about 15 seconds and then was acting very tired/lethargic. She called me within moments of the "episode" and I let them know that I would be there as soon as I could.

I left the house immediately, still in my now very sweaty and stinky workout clothes, and headed to school, calling Jeff on the way. Upon arriving at school it was obvious that Ethan was not feeling well. The therapists all explained what they had witnessed and it was agreed that Ethan may have had a seizure. I called his Neurologist's office and left a message with the nurse. Then I called his Primary and talked with the nurse who told us to go to the ER. So, I called Jeff again and let him know that Ethan and I were headed to St. Mary's ER. We arrived at the ER just a few moments after 11am.

Thankfully there were very few people in the waiting room and we were seen by a nurse rather quickly. Then we were moved to a room and seen by another nurse. Jeff arrived shortly afterwards and so did his dad. Jeff had called his dad to let him know that I wouldn't be bringing Ethan by that afternoon for them to watch him so I could go to the dentist and let him know what had happened. Thankfully the wonderful gals at STEPS called and cancelled my dentist appointment for me while I was making phone calls to see what we needed to do.

Our visit to the St. Mary's ER was a lengthy one. Ethan had blood drawn, a CT scan and a chest x-ray. They were trying to figure out if there might be an infection that had triggered the episode or if possibly something had happened to his brain such as a brain bleed/bruise/abnormal growth, etc. It took several hours for all of these tests to be performed and for the results to come back. Thankfully everything was coming back normal, however due to Ethan's complex medical issues his Primary felt that it was best for us to go to Carle to undergo additional testing. We agreed that this was the best option and we would like to see if we could figure out what was going on with our little boy.

So, I made up a list and sent Jeff home to back a bag for us while we waited for transport. I got to ride along with Ethan in the ambulance and Jeff would get everything that we needed and then drive to Carle. It seemed like we waited forever for the ambulance and then after we got on the rode we spent over a half an hour stuck by a train on our way out of town. The trip that should have taken an hour was extended into almost an hour and forty-five minutes and if you have ever ridden in the back of an ambulance you know that it isn't a smooth comfy ride.

Once at Carle, Ethan and I were admitted through their ER and we once again were stuck waiting. Jeff and his parents arrived and we continued to wait. The ER was so busy! Thankfully we had a "room" -- meaning that we got curtained off section of the very busy ER. Many people weren't that lucky as there were a number of people waiting on beds and/or wheelchairs out in the hallway with no privacy at all.

It was nearly 8pm by the time we got settled into our room on the pediatric floor. Talk about an exhausting day. Ethan was tired and grumpy, and to be honest so were we. Thankfully we were able to get Ethan settled for night without to many problems after they started him on IV fluids and was soothed to sleep by his grandparents. We also had a plan of action -- an EEG had been scheduled for the next morning to see what was going on with our little guy's brain.

Although we should have been thankful that we could now go to sleep we found it hard to rest. Not only are the sleeping arrangements uncomfortable, to say the least, it is just hard for me to sleep in a hospital. My brain and heart just can't shut down. I worry, I pray, I think to much about what could happen, wonder how we will be able to handle anymore bad news --- I mean this diagnosis SUCKS and it just seems like we continue to develop more symptoms/problems and continue to become more and more impacted and falling behind the other PBD-ZSD kids that are at the moderate/mild end of the spectrum. It just sucks, and I can't sleep.

On Wednesday, July 3rd Ethan woke up early, which was actually a good thing because we needed him to nap for the EEG later that morning. A little after 9am we were transported down to radiology and Ethan was prepped for the test. He had over 20 electrodes placed on his head. He was VERY UNHAPPY about this process. Then he and Jeff laid down on a regular bed and all the lights were turned off so we could get Ethan to nap. Ethan feel asleep rather quickly, probably because he was distraught about what he had just endured with the placement of the electrodes, and they were able to begin the test. The sleeping portion of the test lasted around 30 minutes. Then we woke him up and they tested him awake with a series of flashing lights. Overall, Ethan did REALLY well for the EEG.

Once it was finished we waited a few minutes in the room until the Neurologist came to see us and report her findings. We were completely shocked to learn that Ethan's EEG was VERY ABNORMAL and that there was SIGNIFICANT SEIZURE ACTIVITY ONGOING. She shared that Ethan was most likely having seizures even as we spoke and that his loss of head control and falling over when sitting or crawling is/was most likely when the seizures were coming one right after another one.  She said that the type of seizures that Ethan is having are called atonic seizures and that he may also being having what are called absence seizures as well. She explained that there were a couple of anti-seizure medications that we could try and we decided to go with her first choice which was Depokote. While she believes this will be the most effective medicine for Ethan it is metabolized through the liver and since Ethan is already at risk for liver problems/failure due to PBD-ZSD we will want to monitor his liver function to make sure that the medicine is not having too much negative impact on his liver. If his liver function becomes an issue we will need to try another medication.

After hearing the devastating news from the neurologist we returned to the pediatric floor and Ethan was given an IV loading dose of Depokote. He stayed on the IVs for the rest of Wednesday. In the afternoon Ethan's geneticist stopped by to visit and so did the hospitalist. Our geneticist fought for us to be released and come back in a few days for another EEG and the hospitalist agreed that this would be possible, however the neurologist wanted to keep us overnight again just to make sure that Ethan was tolerating the Depokote. So, after getting our hopes up a bit, we settled in for another night at the hospital.

Ethan went to bed around 7:30pm but woke up at 2:30am on Thursday, July 4th. He stayed awake for the next 5 plus hours! It was miserable!!! There was nothing that we could do to make him happy. At one point we gave him some Tylenol thinking that he might be in pain, later the nurse checked his IV and ended up removing it to see if that was causing his distress. Nothing was making our little guy happy. We walked the loop around the pediatric floor, etc. My loving husband let me sleep from about 5 to 5:45am -- I was mentally, emotionally and physically exhausted. Ethan finally went back to sleep a little before 8am and sleep about an hour and a half. Jeff was able to rest then as well. We had asked the lab to hold up on sending someone to draw Ethan's blood so he could sleep as long as possible, but labs needed to be drawn to measure the level of Depokote in Ethan's system so around 9:30am the doctor and nurse said that they needed to be done. I was not looking forward to having to wake Ethan up to a blood draw, but somehow he must have known because he woke up on his own about 5 minutes after we were told that someone was on the way to our room to do the blood draw.

Since it was the holiday we weren't sure how quickly the lab would get things processed. The neurologist needed to get these results so she could adjust Ethan's Depokote dose if the levels in his system was too low or too high. A little before noon the Neurologist came by and said that they were lower than she had hoped so they gave Ethan another loading dose of the medicine, this time through his G-tube. After that was done we were told that the discharge process could begin! At first we thought we would just get to go home for the afternoon/night and have to return the next day for another test, but when we shared that we would be back the following week for an appointment with the GI, she said we could just come back then for the EEG and for a follow-up appointment with her. This was great news! Also, since Ethan's body would have over a week's worth of anti-seizure meds waiting a few extra days before we do another EEG should let the neurologist have a better idea if the Depokote is "working." So, after getting instructions about dosage/administration and follow-up testing and appointments we were given the okay to go home! We made it back home in the early afternoon.

My parents drove up and visited with us for a few hours. They were glad to get to spend some time with Ethan and he especially enjoyed playing with his Grandpa Chambliss and getting lots of hugs and kisses from his Grandma Chambliss. After my parents headed back home we spent a quiet evening at home. Ethan went to bed without much of a fuss and Jeff and I watched fireworks on television --- we saw parts of the firework displays from New York City, Washington D.C. and Philadelphia. We missed not getting to go and enjoy the fireworks with friends, as we had hoped to do, but after being in the hospital and the lack of sleep that we all had the previous night, we just stayed home.

We've now been home from the hospital for almost a week and it has been exactly one week since we learned that Ethan has seizures. Adding another medicine to Ethan's daily regiment hasn't been difficult. One HUGE praise of the g-tube is that Ethan doesn't have to taste all of the medicines he takes -- and this boy takes a ton! Now that we are aware that his loss of head control and falling over are typically seizure related, we seem to be noticing it more but now we are looking for it. I'm not sure if the medicine is really helping or not yet. Tonight was the first evening that we could increase the dosage. We will return for another EEG on Friday as well as a follow-up visit with the Neurologist and our regularly scheduled appointment with the GI doctor.

Prayer Requests
  • Pray that the medication will be able to control Ethan's seizures and that he would no longer actively have them. Pray for his safety since the seizures cause him to lose muscle tone and he could become seriously injured and/or stop breathing because of them. Seizures are scary, even when they don't always "appear" frightening.
  • Pray that we will have good results from the upcoming EEG and appointments with Neurology and the GI. Pray that we will be able to see if there is any possible correlation between the onset of the seizures and the possible need to increase his steroids that treat his adrenal problems -- there are other PBD-ZSD families that have seen this correlation in their own children. 
  • Pray that Jeff and I will be strong. In our heart we just thought we weren't going to have to worry about seizures. Not all PBD-ZSD kids have them, probably less than half, and since he is almost 3 and we hadn't seen any we thought we had "made it." When it comes to this stupid disease it just seems like it is always one more thing/symptom/issue.
  • Pray that Ethan would continue to grow, develop, learn, and be happy despite this new obstacle. We are still praying that we will someday get a first step and that someday we might hear a real "momma" and "daddy." He still has no words and hasn't developed many new sounds in a while. He has very few signs/gestures and as of now picture or object exchange/communication are not something that Ethan has had any success at learning. Ethan's lack of communication is very frustrating to him and us as his parents. Unless you have a child who struggles to communicate you will never truly understand what it is like to desire with all of your heart to hear/have signed/communicated to you through a picture or object system simple things like "mom," "dad," "I love you," and of course the fact that Ethan can't tell us what he wants/needs/if he is hurting or scared or sad or upset. For me personally Ethan's lack of communication is probably the most frustrating thing about PBD-ZSD at this point/stage. I struggle and get so low when I hear the "conversations" that typically developing children who aren't even 2 years old yet can have and it just breaks my heart. I just want to know what my son needs so I can help him and comfort him and be able to do all I can for him to enjoy his life.
  • Pray for all families impacted by PBD-ZSD and other diseases/conditions that steal so much from our children and our families. This is a very tough road. As Ethan's parents there is no option accept taking everything one day at a time, and loving our son, but it doesn't mean that we still don't struggle daily with what we think "should be" and what just doesn't seem "fair."
  • Pray for the upcoming 2013 GFPD Conference that is later this month in Lincoln, NE. We are excited to say that between our Pancakes for PBD-ZSD event and a small grant that we received that we will be able to attend conference without worrying financially. Thank you to everyone who helped make this possible! We should even have enough left over to help other families via the GFPD Conference Scholarship Fund. There is not going to be a national conference next year (as they are most likely going to become every other year events with smaller "regional" get togethers planned for the non conference years) but we are still planning on having our Pancakes for PBD-ZSD event annually and raise funds for the GFPD Conference Scholarship Fund so that families like ours will be able to get the assistance needed to attend conferences. We are looking forward to seeing many members of our GFPD family but are very saddened by the fact that some of the children that attended last year are no longer with us.
  • Pray for all of the therapists, teachers, doctors, nurses and researchers that have dedicated their lives to helping children with PBD-ZSD reach their fullest potential. We need REAL treatment options and a CURE. Pray that the researchers and specialists would have the wisdom needed to find ways to improve the lives of kids like Ethan.
  • Pray that somehow in the midst of all of this that we will continue to find a way to shine for Jesus and continue to feel His love, strength, and comfort each and every step of this journey. It is so hard for me to see at times how this all makes sense and brings God the glory, but I believe deep down in my soul that it is supposed to/will in one way or another.