February 21, 2016

Whirlwind Week and a Half

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 better to just wait until Thursday and see our pediatrician, who knows Ethan. For the remainder of the day Ethan was pretty snugly, which let me know he wasn't feeling great. I even participated in part of the GFPD Board of Directors phone call meeting while he slept on me. He didn't have a fever or any other symptoms that indicated anything else was going on, so I just contributed his tiredness to the bad seizure cluster.

Thursday, February 11th -- Ethan seemed fine when he woke up so I took him to school and then picked him up at 1:00pm so that I could take him to the pediatrician. His teacher said he had had a good morning, so I was sure that he was okay, but I knew it was still important to follow up with the pediatrician since we had given him the diazepam the day before. Unfortunately, my mom instincts were wrong. Ethan tested positive for strep throat! I felt horrible. He hadn't had any visible/noticeable symptoms and since he isn't able to tell me much, I had no idea. Major mom fail! So, the pediatrician prescribed five days of antibiotics and since Ethan had Monday off for President's Day, we were sure he'd be good to go back to school on Tuesday. Ethan loves school, a lot more than being home, so we try to not have him miss unless it is really necessary. 

Friday, February 12th [Day 2 of antibiotics] -- Ethan stayed home from school. He seemed pretty tired but otherwise okay. Diarrhea, likely due to the antibiotics started.

Saturday, February 13th [Day 3 of antibiotics] --  Haircut!

The morning, went well, especially his haircut, but sadly he continued to have diarrhea. 

Sunday, February 14th [Day 4 of antibiotics] -- Due to the diarrhea we decided that it was better to stay home from church. Later in the afternoon it was clear that Ethan wasn't feeling great. 

Monday, February 15th [Day 5 of antibiotics] -- There was no school because it was President's Day, which is why I had previously scheduled his six month GI appointment for that day. When we saw the GI in the afternoon I spoke with him about the diarrhea, which he also believed was likely due to the antibiotics, and the random choking/retching sounds that Ethan makes sometimes. He prescribed a medication that we hope might lessen the retching. The doctor is also going to see if our insurance will cover a medication that some children with PBD-ZSD take that has shown to improve their liver function.

Tuesday, February 16th -- Ethan was still having diarrhea so we kept him home from school. He had two small seizures during his nap -- each time they woke him and then he was able to go back to sleep.

Wednesday, February 17th -- Due to diarrhea overnight Ethan required a bath when he woke up. Jeff took the day off to go with us to previously scheduled ENT, Neurology and Genetics appointments in Champaign. We saw the ENT first and discussed the possibility of Ethan having sleep apnea that could be making his seizures worse. Ethan's tonsils did not appear to be extremely large, and so the ENT wants to wait until we get results from the sleep study (still more than a month away) before we would consider surgery, but agrees that if there is sleep apnea that removing the tonsils and adenoids might be beneficial. Before we left the ENT's office for lunch we decided to give Ethan his tube feeding, and unfortunately Ethan had another bout of diarrhea that needed to be cleaned up and required a change of clothes. 

We left the hospital and headed to Jimmy Johns for lunch, where we went through the drive thru and then drove to the park to sit and eat in the car. While Jeff and I were eating our lunch Ethan played for a while with his iPad, and then napped a little, and unfortunately had another diarrhea diaper. We got him cleaned up and I called our pediatrician's office to let them know that Ethan was still having diarrhea even though he'd been off of the antibiotics for two days. I left a message with our nurse care coordinator and then we headed back to the hospital for our next appointments.

We spent about an hour with the geneticist. It was our yearly check in. We went over some of Ethan's latest blood test results, but unfortunately his VLCFA tests were not back yet. We spoke of what we had learned at the GFPD conference back in July and the geneticist was in agreement that we are doing what we need to do for Ethan. Ethan was not happy at being there and he didn't want any of his toys, but luckily the nurses found a light up top that he liked. 

After we finished with the geneticist we went back to the waiting room to wait for our neurology appointment. I checked my phone and saw that I had missed a call from the pediatrician's office so I called back and they were able to schedule us to be seen by in the pediatrics after hours clinic at 7:30pm. Ethan just wanted to leave, so Jeff and Ethan wondered around for a bit before it was time for us to see the neurologist.

We filled the neurologist in with all that had happened since we had seen her in November. It is very difficult to get in to see her and all of our hospitalizations and recent EEGs have been here, almost 2 hours away from her. Although we have tried to keep her updated and the local doctors have reached out to her a few times while we were inpatient, there has been problems with keeping everyone in the loop and on the same page with medications and dosing, as each time we see a different doctor inpatient they suggest something different. Our goal is to have a local neurologist, because it would be nice to have a neurologist who is affiliated with the hospital where Ethan receives the majority of his care.

Ethan is currently on three anti-seizure medications (Keppra, Topamax, and Phenobarbital). The first anti-seizure medication he tried more than three years ago was Depakote, and this fall we tried Onfi, but that didn't seem to be helpful in controlling the seizures and really impacted his balance and mobility negatively. Our neurologist admitted that Ethan's seizures have reached a severity that she typically doesn't see and that it is time to see a pediatric epileptologist (epilepsy specialist). We asked to be referred to someone in Iowa City, if possible, since Ethan already has his eye doctors there and if we are going to have to drive Iowa City is just as close as St. Louis or Chicago and is a much easier drive. Dr. K. found out that Iowa City does indeed have a pediatric epileptologist, who went to medical school at Washington University and completed his residency there as well, so she felt comfortable in reaching out to him and making a referral. We left the appointment knowing that a referral would be made and that hopefully we would get to have Ethan seen by a pediatric epileptologist soon and that we'd see Dr. K again in May.

It was just after 5pm when we left and headed back home for our 7:30pm pediatric after hours appointment to address the continued diarrhea. Since it was almost 7:00pm when we arrived back in town we went through the drive thru for dinner, filled the van with gas, and then headed to the appointment.
Waiting to see the doctor at pediatric after hours.

Poor guy!

Can we go home yet?
The pediatrician checked Ethan out and sent us home with a "poop kit" so that we could collect a stool sample to have tested for C-Diff. If Ethan tested positive for C-Diff it would be important to address it with the proper antibiotics ASAP, but he hoped that the lingering diarrhea was simply because the antibiotic he had taken for strep throat was still working itself out of Ethan's system. After a very long day we finally got home around 8:30pm, nearly 12 hours after we left.

Thursday, February 18th -- We kept Ethan home and by mid-morning I had collected the required sample, which Ethan and I then took to the lab for testing. Afterwards we took a detour to Target because we needed several household items but this mom was also in search of discounted Valentine's Day candy. I had hoped to be able to attend a school district meeting in the evening, but Jeff had to work late, so we simply spent a calm evening at home.

Friday, February 19th -- Around 3:00am Ethan woke up crying and seizing. He was inconsolable and the seizures seemed "smaller" but they continued to cluster, with one ending and then him almost immediately going into another one so we had to once again administer rectal Diazepam. After the medication calmed him down and he fell asleep we carried him back to bed where I curled up beside him where I watched him and prayed until I fell asleep too. 

Ethan was pretty sad and tired most of the day and took a very long nap in the afternoon. We found out that thankfully the stool sample was negative for CDiff. We also heard from the neurology department at the University of Iowa and were able to get an appointment scheduled to see the specialist this month! This is sooner than we ever imagined possible, which is a huge praise, because we really want to know we are doing everything we can to try to help get the seizures under control. I hate seizures!

Saturday, February 20th -- We didn't have anything planned for the day, which was good because I woke up with an enormous headache so I was very thankful that Jeff and Ethan were able to play while I rested for a couple of hours. After lunch Ethan took a very long nap and Jeff headed to the grocery store to get a few essentials for us since I hadn't been to the grocery store all week. Ethan didn't have any seizures that we know of but it was pretty clear that something was still off.

Sunday, February 21st -- This morning we did go to church but I ended up bringing Ethan home after Sunday School. He just wasn't acting like his normal self and although he hasn't had a fever or anything I just thought it would be best to go home. Before I left a friend prayed with and for us, which was nice and much needed. Jeff stayed for the worship service and said that it was good. The audio isn't uploaded yet, but you can find the outline here.

Ethan was pretty calm during the afternoon, not as active as he usually is, so perhaps he is still a bit wiped out from the seizure episode on Friday. Although we were a little late we did make it to our small group tonight. Honestly, it would be easier to just stay home, but we never regret going when we do. We continue to be thankful for these brothers and sisters in Christ who God has put into our lives since we moved here. Ethan was pretty restless but several of our friends took turns watching and playing with Ethan so that helped.

The Bible passage that we read and discussed tonight was Ephesians 3:1-13. You can find the passage in the English Standard Version (ESV) translation here, but below is the passage in The Message paraphrase, which uses contemporary language to engage people in reading and understanding the Bible.

1-3 This is why I, Paul, am in jail for Christ, having taken up the cause of you outsiders, so-called. I take it that you're familiar with the part I was given in God's plan for including everybody. I got the inside story on this from God himself, as I just wrote you in brief.
4-6 As you read over what I have written to you, you'll be able to see for yourselves into the mystery of Christ. None of our ancestors understood this. Only in our time has it been made clear by God's Spirit through his holy apostles and prophets of this new order. The mystery is that people who have never heard of God and those who have heard of him all their lives (what I've been calling outsiders and insiders) stand on the same ground before God. they get the same offer, same help, same promises in Christ Jesus. The Message is accessible and welcoming to everyone, across the board.
7-8 This is my life work: helping people understand and respond to this Message. It came as a sheer gift to me, a real surprise, God handling all the details. When it came to presenting the Message to people who had no background in God's way, I was the least qualified of any of the available Christians. God saw to it that I was equipped, but you can be sure that it had nothing to do with my natural abilities.
8-10 And so here I am, preaching and writing about things that are way over my head, the inexhaustible riches and generosity of Christ. My task is to bring out in the open and make plain what God, who created all this in the first place, has been doing in secret and behind the scenes all along. Through followers of Jesus like yourselves gathered in churches, this extraordinary plan of God is becoming known and talked about even among the angels!
11-13 All this is proceeding along lines planned all along by God and then executed in Christ Jesus. When we trust in him, we're free to say whatever needs to be said, bold to go wherever we need to go. So don't let my present trouble on your behalf get you down. Be proud!

Although we were the first to leave, and I'm sure that the discussion continued afterwards, the time that we did have pondering the meaning and the application of this passage in our daily lives as 21st century Christians was thought provoking. Knowing about God's love and the offering of the gift of forgiveness and reconciliation by grace through faith to all people is something that many of us who grew up in the church probably take for granted. However, as we tried to step back and think of what the people during the time of Christ's earthly ministry and in the years immediately following his death, burial, and resurrection, the thought that Jews and Gentiles alike would "fellow heirs" and "members of the same body" must have truly be hard to grasp. The truth found in John 3:16, "For God so loved the world, that he gave his only Son, that whoever believes in him should not perish but have eternal life." (ESV) must have seemed like such a radical and perhaps unbelievable idea/concept.

Perhaps that is your reaction to the Gospel. If so, then I'd like to challenge you to learn more about the how and why of the Gospel. Not sure where to begin? The Story is a short video that will help you understand God's story and how it all began and it will never end. I'd also like to recommend you read It's All About Jesus! and How to Become a Christian. If you do not consider Jesus Christ your Lord and Savior, my prayer is that today your heart and mind would be open to his gift of grace through faith and that you would be forever changed.

Prayer Requests

  • Upcoming appointment with the pediatric epilepsy specialist. Pray that the right medication and/or combination of medications would be found that would help us control Ethan's seizures.
  • Sleep study near the end of March to determine whether or not Ethan has sleep apnea. Pray for the test itself, which will likely be very traumatic for Ethan and also for wisdom about the possibility of surgery to remove Ethan's tonsils and adenoids if sleep apnea is diagnosed. 
  • Ethan's overall health and energy level. PBD-ZSD is a metabolic disease, so his little body is always working really hard and even normal childhood illnesses, such as strep throat, a cold, or the flu can really wreck havoc on him (and us). 
  • Upcoming GFPD fundraisers: Pound the Pavement for Peter on March 19th in the Atlanta, GA area; Tee It Up! For the GFPD on May 19th in Bloomington-Normal, IL; and the Ilan-a-thon on June 4th in the Baltimore, MD area. 
  • Potential GFPD fundraisers organized by our family: Our family hosted a couple of successful Pancakes for PBDs all you can eat pancakes and sausage breakfasts before we moved, and we would really like to see if it is possible to revive that as an annual event since we still have friends and family in the Decatur, IL area. We would also like to work on getting an annual Pasta for PBD all you can eat spaghetti dinner organized and started where we live now. Friends --- for these to be successful we will need help! 
  • Wisdom, guidance, and favor for all the doctors, researchers, scientists around the world who are treating children with PBD-ZSD and/or working in labs to better understand and hopefully discover potential treatment options. Would you consider even praying specifically by name for the men and women who serve on the GFPD Scientific Advisory Board
  • The GFPD's leadership team and all the families impacted by PBD-ZSD. 
  • Ethan's team -- the doctors, teachers, assistants, therapists, etc. who work with him and want to see him reach his fullest potential.
  • Encouragement, strength, wisdom, patience, contentment, joy and peace for Jeff and I as we fight through the daily routines, the uncertainties, and the grief associated with this disease and its impact on Ethan and us as individuals, a couple, and as a family. 

February 7, 2016

Physical Therapy - February 4, 2016

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 riding an adaptive bike (tricycle). In the last few weeks Ethan has seemed to really be catching on to the process and he seems to enjoy going fast!

Click on the links below to see Ethan in action!

Physical Therapy - Video (Part 1)

February 2, 2016

January 2016 Wrap Up

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 needs. Ethan attends the same school that her brother did. Ethan's school is a regular neighborhood elementary school (although it is not our neighborhood school it is less than a 10 minute drive from our home) that houses the severe and profound special education students in a section of the building.

January 21st
Ethan and I went to Springfield, which is just short of a two hour drive, to see his endocrinologist. The appointment went well. This was the first visit in which Ethan stood against the wall to be measured! He needed a bit of help, because although he does walk a little bit, he doesn't actually stand still independently for more than a few seconds. Ethan hasn't grown a lot of the last year and is only about an inch taller, but overall the endocrinologist isn't too considered. I know that he has been growing because most of his 3T shirts and even some of his 4T shirts are too short in the sleeves. 

January 23rd 
Jeff's parents, sister, brother and his wife and their two children, and grandpa all came to our house to celebrate Jeff's dad's birthday. We were very thankful that everyone came to us, since we are hesitant about traveling too far from home these days due to Ethan's seizures.

January 26th
We had our six month home visit from our foster care agency. Although we have not yet had a child placed with us, routine visits occur every six months. We have been licensed a year and we continue to pray for patience and wisdom as we trust the Lord in the building of our family.

January 27th
I kept Ethan home. It was a half-day at school. He was super tired and just didn't really want to wake up. Ethan has been staying up later and then sleeping in. Although we aim for him to be asleep by 8:30 there is not really anything that we can do to make him go to sleep, and with his seizures seeming to be worse when he is falling asleep, waking up, and/or tired, we are just very cautious.

January 28th
I picked Ethan up early for his physical therapy appointment at Easter Seals. He did great! He really worked hard on the tricycle. 
January 30th
Ethan had a bad seizure day, they clustered in the afternoon and we had to administer his rescue medication. Even after we gave him the medication it took several minutes before the seizures stopped and Ethan fell asleep. He slept for about 2 hours and woke up like nothing had happened. We hate seizures!

January 31st
We had a good morning at church. Ethan has a great team of buddies, which allows us to attend Sunday School and the Worship Service. We are very thankful for this support. "Why Families Need Special Needs Ministry," is a must read for every church attender and clergy member. On Sunday evening we finally made it back to our small group. Sadly, Ethan had multiple seizures on the car ride there, but he was fine once we got there. Our small group is a huge blessing to our family. We have lived here for just over a year and a half, and have been getting to know this group of families for almost that long. After dinner together someone in the group was supposed to share their testimony, but somehow it ended up with Jeff and I sharing about our life with Ethan. [I'd like to encourage everyone to read a recent post written by a fellow PBD-ZSD mom that provides a bit more insight into the many complicated emotions and thoughts that go through our heads and hearts every day.] Our friends have embraced us as a family and had a chance to ask some questions that perhaps they hadn't felt comfortable to do so before. I did a bit of crying, but that is to be expected. Since we do not have any family in the area, more than ever before we need our church family. We spoke honestly about our struggles and also admitted that we need their help, especially if/when God places another child in our family. When we headed home for the night we felt loved. We are even going to be teaching several of our friends how to use Ethan's feeding tube ---- they asked/volunteered to learn!

February 1st
We started off the morning with a trip to the lab for fasting blood work. Thankfully, we didn't have to wait all that long and the blood draw went pretty smoothly. They collected so much blood! After the blood draw I fed Ethan his breakfast and gave him all of his medications, there in the waiting room, where we got to spend a few minutes visiting with a friend from church who is a nurse at the hospital, and then it was time to head to school. Right before I was leaving the house in the afternoon to pick Ethan up from school I got a call from the University of Iowa reminding us of his upcoming eye doctor appointment. I had written the appointment down for Wednesday (Feb 3rd) but the call said that it was Tuesday (Feb 2nd). Obviously, I was more than a little confused and concerned so I called back to speak to an actual person, and verified the appointment and learned that I must have written the date down incorrectly months ago when it was scheduled. So, I let them know that yes, we would be there, and double checked that they weren't going to be hit with a blizzard. They said, no, they were supposed to be okay, although other parts of Iowa were going to be hit hard. Thankfully, with the unexpected change in plans Jeff's dad was able to still arrange to come with us, since Jeff had to work, so he arrived at our house around 7pm.

February 2nd
In order to be over in Iowa City for a 9:30am appointment, we left just a little after 6:30am. Ethan was not very happy about being woken up early (again) but we got up and around fine. The weather and roads were okay until we got a little bit into Iowa and then they started to get slick and a little slushy. We praised God for getting us there safe and although we had to loop around a bit before we found the parking garage, once we got that straightened out we were set. We made it on time and were seen by the first doctor, a low vision specialist, pretty quickly. Then we waited to see the second doctor, the retina specialist. That took a bit longer and we say a younger doctor first and then Ethan had to have his eyes dilated and then we saw the retina specialist. Although we spent most of the day traveling and at the eye doctor appointments it was worth it, because these doctors are amongst the top specialists in the country, and they take their time to talk with us, and they genuinely care for their patients. 

With how out of control Ethan's seizures have been (he had more than a half dozen short ones in the car on the drive over to Iowa City even) it was nice to get a good/hopeful report from the eye doctors. Both doctors were really pleased with how well he is using his vision and his retinas are stable and in decent shape. While the truth remains that Ethan is legally blind, we continue to focus on his functional vision and helping him use what vision he has to the best of his ability. They both agreed that right now Ethan's neuro issues are holding him back much more than his vision loss. Dr. Stone, the retina specialist, also had his nurse take my blood and a skin biopsy (sample) from Ethan. They are going to grow Ethan's cells in the lab for research purposes. The more that they can learn about PBD-ZSD the more likely it is that new treatment options will be developed. Retinal gene therapy for individuals with PBD-ZSD may not be all that far away --- maybe even within the next 5 years. Increasing the vision of an individual with PBD-ZSD obviously won't cure the disease, but I know we would love to be able to have a way to improve Ethan's sight. For children who are deafblind, like Ethan, even if they don't have any other physical or cognitive impairment, we live in a world in which it is much more difficult for them to learn and be an active participant in. For more about the challenges deafblind learners face please read about the pyramid of learning.
Ethan's gift from the team at Iowa City!
We currently have 4 more doctor appointments scheduled for this month: GI, ENT, Neurology and Genetics. 

There are so many things that are on my heart and mind as prayer requests, but I'll just share a few.
  • Pray for the salvation of those who do not yet know the Lord. That hearts would be softened and ears, minds be open. 
  • Pray for wisdom for the doctors as they treat Ethan and for medical and/or supernatural interventions that would cause the seizures to be controlled and/or stopped.
  • Pray for those new to the devastating diagnosis of PBD-ZSD (or similar life limiting disease), those who are in the trenches of it (like our family), and those who are learning to live on the other side of this disease now that their child has passed. 
  • Pray for the doctors and researchers who are dedicated to discovering treatments for rare diseases like PBD-ZSD.
  • Pray for churches across our country and throughout the world to engage families impacted by disabilities. Please read "What are the stats on disability, adoption and the church?" part 1 of a 3 part series.