Last Sunday night we put Ethan to bed with anticipation of Monday morning's blood draw. Ethan and I headed to the hospital early that morning with him still in his pajamas. He has been on the Cystadane for six months and it was time to see if the medicine was "working." In addition to testing to see if there had been any improvement in Ethan's VLCFA and plasmalogens, blood was taken for the liver function panel, ACTH and cortisol (which measures adrenal function) and also to check vitamin K levels. Ethan was a real trooper and did great. He didn't like being held down of course, but I am always so proud of him. We also had a great talk with the geneticist's nurse who cares deeply for Ethan and who worked so hard to get Ethan on the Cystadane.
After returning home Ethan had his weekly appointment with his DTH, Julie, from the Illinois School for the Deaf. It was a good visit and Ethan was "talkative" and although he didn't want to activate/play with some of the toys he did show of his ability to transition from the floor to sitting. Later that afternoon Jeff's dad came over and he and Ethan played together while I ran to the grocery store.
I also received an email that day from a newly diagnosed PBD family. As the volunteer Family Registry and Support Group Coordinator for the GFPD I get these on a pretty regular basis but this time the family was from southern Illinois. I emailed the family and then called them later that afternoon. I got to speak with my new friend Jeanine and learn about her daughter Corey. We even made plans for us to meet on Wednesday when Ethan and I would be in their area.
On Tuesday morning Ethan and I packed up and headed for Mt. Vernon. My cousins from the Atlanta area were going to be visiting and we were excited to see them as well as our new friends Jeanine and Corey. It was such a "God moment" that we got the email from her a day that we were going to be in their area! At least I sure believe it was a divine appointment.
While we were on the road the nurse from the geneticist's office called and shared that Ethan's liver panel had came back and while some of the levels were slightly elevated they were really great for Ethan and that doctor was very pleased. The ACTH and cortisol results weren't in yet, but she said she'd call when those came in.
Tuesday afternoon after unwinding a bit at my parents' house Ethan and I met up with my cousins so that my cousin Mike could try to get some pictures of the four great-grandkids (ages 5 years old, 2 and 1/2 years old, 21 months and 16 months) for our grandparents. Let's just say he was successful in getting all of the children in a frame, but getting all four of them to cooperate was a totally different story. I know I am probably a little bias, but Ethan really did the best -- he may have never smiled but at least he wasn't crying or running away.
Tuesday evening we enjoyed a meal out with the cousins, my parents, my sister, my aunt, and my grandparents. It was so nice to have so much of the family together. We even made plans for us to all try to get back together in July to celebrate all the July birthdays - sorta feels like when I was a kid. My birthday is July 17th, my cousin Mike's is July 18th and our Grandpa's is July 20th -- so I have lots of memories of us celebrating our birthdays together as a family.
Wednesday morning Ethan and I hung around my parents' house and then got around and headed to the McDonald's in Nashville, IL to meet Jeanine and Corey. Nashville is just about 30 minutes from my parents' house and about 30 minutes from Jeanine's house so it worked out great. We spent two hours visiting. It was amazing. In those two hours along the emotions ranged from excitement and joy of being with another family who understands this disorder to helplessness, sadness and sorrow because PBDs are nasty and currently is no known cure and treatment is simply symptomatic. Jeanine and I clicked right away - kindred spirits you might say, as we shared about our love of the Lord and our children. Neither of us wanted the visit to end but the children were restless.
We also got another call from the nurse at the geneticist's office on Wednesday. Ethan's ACTH and cortisol results had came back normal! Awesome news. She also shared that the doctor had spoke with Dr. Braverman (PBD specialist from Canada) and they decided that when we get back the VLCFA and plasmalogens results that we would most likely increase the dosage to try to see if we can get better results (unless for some reason when the results come back the levels have went back to normal -- which isn't really likely but we are praying that the levels will improve). I was so excited that in addition to having fantastic results (so far) there was a game plan in place and that even if we didn't get the results that we are hoping for with the Cystadane that we would increase the dosage and keep trying. I felt empowered. I mean my son is the only kid with PBD on Cystadane that we know of in the world. The clinical trial is not yet up and running and not only do I want to see results for Ethan, but if we find out what type of dosage may help Ethan it might give the future clinical trial a jumpstart so that more children can try to see if the medicine will help them. All of this is of course still up in the air as we wait to hear from the lab. The blood had to be shipped to Baltimore, MD and once it got there it will probably take 7 to 10 days to get results.... so until then we try to not go too crazy waiting. This medicine would not be a cure, but if it could improve the quality of live for children with PBD it would be a huge breakthrough!
Ethan and I returned to Mt. Vernon and spent a little more time visiting with my family before heading back to Decatur. Ethan was great on the car ride home.
Thursday morning Ethan had PT and OT. He didn't want to work very hard at the beginning, but he eventually warmed up and even showed off that he can go from the floor to sitting! Thursday evening Ethan and I went to the zoo for about an hour. It was a completely unplanned trip but when we got a reminder that it was going to be a free evening at the zoo I decided we'd go. We ran into a few people that we knew, but it wasn't all that great since Ethan couldn't really see many of the animals - nothing was really up close - and overall just didn't seem to interested. I was glad it was free!
Friday Ethan and I took it easy until it was time for us to go help with the setup at church for Saturday's Pancakes for PBD event. That evening however, Ethan did not want to go to bed. Ethan must have known that we all had to be up early the next morning.
Saturday was Pancakes for PBD and it was amazing. We had such a great turnout - there was no official count taken but we had a steady stream of people the whole morning. You can check out more of the specifics ans well as pictures from the event in my previous post.
Sunday morning we had church. In Sunday school we started a study on the book of Micah and then I helped out in the nursery during the worship service. After lunch with family we came home for a relaxing afternoon. Jeff had to go back to church early for a meeting and then Ethan and I headed back in time for the evening service which was AWANA recognition night. AWANA is a kids program that involves kids ages 3 through sixth grade. When I got into the sanctuary after dropping Ethan off in the nursery the three and four year olds were on the stage. They began by signing a cute little song and then reciting Bible verses, and then each one was individually introduced and received a small award. I wasn't able to stay. I began crying almost immediately when they began to sing and before the sobs were uncontrollable I left. I hadn't had a meltdown like that in a long time.
As I set in the hallway crying one of the amazing women of faith from our church came and sat with me. I was crying because all I could think of when I saw all those little ones up there is that I don't even know if Ethan will live to be 3 or 4, and even if he does he most likely won't be able to sing songs and recite Bible verses while standing at the front of the church. I cried because I want my son to have all of the things that a healthy, typically developing child has and does. I want those things for Ethan and for Jeff and I. I often feel bad for mourning the loss of all those things because Ethan is still with us and many of the amazing people that I have met since Ethan's diagnosis are unable to hold their child because they have already passed away, but I do mourn and grieve, even with Ethan still here with us. Seeing all those little ones up there just made all of those things rush to my mind and heart. All the things that PBD will most likely steal from us. All the jealousy that I have towards my friends and family and even strangers that have healthy typically developing children. As my friend tried to comfort me and assure me that it was okay to be upset I shared with her, as I have with some of my other Christian friends, that I long for Christ to return and take us all home together. Don't get me wrong, I am not a super saint -- just a sinner saved by the grace of the Son of God -- but I do desire heaven especially in the midst of my longing for all of these things here on earth because I know that this is only a temporary home and that my faith in Jesus gives me a hope of something so much better - a place where there is no pain or suffering - eternity in His presence, heaven. But somedays, like yesterday, there are moments that the vision of what is to come is so very hard for me to see and I can't help but think of all the things that PBD has and will take from our son and our family as a whole. Sometimes I just really wish that Jeff, Ethan and I could move to a tropical island that was only inhabitated by other families who understood and of course the best doctors, therapists and teachers. There is no escaping the world around us and anytime we leave the house I am reminded of the fact that my son has PBD and that we live in a broken world filled with sickness, disasters, cruelty, and death. So, if you ever wondered why Ethan and I tend to stay at home by ourselves and forgo the outside world - there it is. At home it is just us and Ethan is Ethan and I don't have to be constantly reminded of all that he "should" be doing.
It has been one really long week. It wasn't even that we were that busy, it was just very emotionally draining - I feel like I've walked up to the mountain top and back down to the valley floor this week. I guess if I'm honest about it I'm sure there are going to be more down days on this journey than I'd like to admit or even try to imagine.
- Continue to pray for Ethan and all children who face devastating diagnosisis and their families.
- Pray that I will feel the Lord's comfort and strength in the moments and situations that I really struggle.
- Pray that people will not take their children for granted.
- Pray that we will receive good news when his test results come back. Pray that the medicine is having a positive impact and if it does that all children with PBD will be able to have access to it.
- Pray that Jeff and I will allow the Lord to work in and through us as He trusts us with parenting our son. Pray that we will have His wisdom as we try to be the parents that Ethan deserves as well as being witnesses for the Kingdom.
- Pray that people with come to know the depth of God's love and trust Him as their Savior and Lord.
- Pray that people will attempt to see children and adults with special needs as children of God who need love and care just like anyone else and that the world would become more understanding and compassionate.