I’ve been thinking several times lately how after about a year, most parents won’t have to get to this point with this disease again. Talk about turning the tide. Everyone in the United States who will be able to receive it should be able to within the next year. Then, children after that who are diagnosed, hopefully early or at least earlier than where Joyanna is right now, will start receiving the enzyme before they begin to decline or some before they even have their first seizure. That’s mind-boggling to me. The doctors can now say at that first meeting, “This is what your child has but there is a treatment!” WOW! So many sweet, innocent, beautiful children delivered from what would have been a certain death sentence just a couple of years ago. WOW! I’m so thankful for researchers, doctors, specialists whom God has given wisdom and understanding of things that can be so helpful to so many people.
Everything has gone smoothly with the infusion this morning. Joyanna has strong vitals once again and is currently sleeping. Before each infusion, they pre-medicate with Tylenol and Benedryl. This will help with any discomfort or reactions to the infusion. It also helps tired little ones drift off to a nice sleep to help 4 hours pass more quickly. It’s smart on all levels. We will be here until about 2 pm this afternoon. Please pray that this infusion can help Joyanna regulate back to a steady point. You better believe I will be watching very closely this next week for all signs and symptoms or any new changes. Seeing her yesterday doing a little better instilled a new hope again.
I’ve been thinking several times lately how after about a year, most parents won’t have to get to this point with this disease again. Talk about turning the tide. Everyone in the United States who will be able to receive it should be able to within the next year. Then, children after that who are diagnosed, hopefully early or at least earlier than where Joyanna is right now, will start receiving the enzyme before they begin to decline or some before they even have their first seizure. That’s mind-boggling to me. The doctors can now say at that first meeting, “This is what your child has but there is a treatment!” WOW! So many sweet, innocent, beautiful children delivered from what would have been a certain death sentence just a couple of years ago. WOW! I’m so thankful for researchers, doctors, specialists whom God has given wisdom and understanding of things that can be so helpful to so many people. We received the call today that Philip's private duty nursing was approved. Our friend, Elizabeth, will be hired at the beginning of next week and then we can get started. It's coming at such a great time with Joyanna now having infusions and other appointments. I am so excited that the Lord answered in this way and in this timing. I am excited for Philip because he'll get some individualized care that he really needs right now, and he'll be getting it from a good family friend. I'm excited for her too because she is ready for the change in her nursing career.
Joyanna had a better day today over all. She was much more alert this evening and had less facial tics. We are praying her body is transitioning to having this new enzyme and she will make a rebound this coming week. The second infusion is tomorrow and I just don't even know what to expect. I do know that God will be our strength if the unexpected continues. I also know that the medicine will be treated properly tomorrow! It's guaranteed. We HAD no reason to think we wouldn’t have the infusion. For whatever reason, the Lord had other plans today. I arrived here at the infusion center early to give them plenty of time to thaw the medicine. It turns out the medicine was already thawed…by accident. Someone had accessed the locked room and the locked freezer and accidentally left the medicine sitting out on the counter. Because they didn’t know when it was taken out of the freezer they couldn’t safely give it to Joyanna today. And the pharmacy is changing protocol about accessing that freezer. Especially because the hospital will now have to consume that $27,000 cost of wasted medicine!!!! Yikes!! I’m guessing some people have not had a good day because of that one!
It took me a little bit to process that change. It was a little bit harder because Joyanna had a hard morning this morning. She was very tired. I gave her a bath and she got upset and more worn out. She fell asleep while I was finishing getting her dressed. Then she started crying while we were waiting in the waiting room and I couldn’t console her. They told me she wouldn’t have the infusion today in the midst of her crying. I lost it, starting to cry myself. Of course, I was hoping the infusion would help her feel better and at least allow her to take a good nap in the quiet infusion room. So, I was stuck for a few moments, but justifiably. Then the doctor and nurse wanted me to explain what has been happening in detail for the last week. That drew me back together to focus on the problem at hand and how to address it to help Joy. The doctor decided to take a sample of spinal fluid to rule out infection and immune responses. (Update: Both of those are ruled out now.) She had a CT scan to rule out internal changes to her brain. The epileptologist feels like it is a manifestation of the infusion and we will need to wait and see how she responds to a few more infusions. It is not seizure activity. Some children have responded by going downhill for a couple of weeks then after the second infusion regaining their original baseline. We hope that will be the case. It seems to me as far down as she’s gone this past week that it will be almost impossible to come right back to her baseline after the next infusion. Speaking of the next infusion, it’s going to be Friday. At least we don’t have to wait for two more weeks. The pharmacist ordered the medicine today and it is shipped within 24 hours. We’ll go first thing Friday morning to have the infusion done. The infusion center--pharmacists, doctors and nurses—is working this in however it needs to be done because the error was on the institution. I feel like I’m getting familiar with that human feeling of weakness and lack of understanding in the moment but then experiencing the steady hand of the Lord bearing me up, bringing peace time and time again when I can’t wrap my mind around what has happened in each situation. I want you to know that if you’ve prayed for grace and strength for us, then those times I’ve felt His strength are answers to your prayers. May your faith be strengthened just knowing that He has heard you. This is the song I’ve been singing to Joyanna for the last few days but it’s been encouraging my heart too: Jesus Is Caring For You Jesus is caring for you; Jesus is helping you too. Jesus is always there keeping you for He loves you; Jesus is caring for you; Jesus is helping you too. Jesus is with you whatever you do. Don't be afraid, Jesus is watching you. In the dark night, He is protecting you. Talk to the Lord, Ask Him to make you brave, Jesus will hear when you pray. You're not alone, Jesus is there with you. He can't be seen, but He is there it's true. He is your friend; He'll keep you in His care. He goes with you everywhere. by Child Evangelism Fellowship I’m so sorry I haven’t updated in 10 days. I really meant to say a few lines here and there since we just started the infusion therapy. Most of this past week I have spent carefully watching Joyanna and coming to terms with her new transition. We’re not sure what this transition is because everything is new territory. Even through last weekend she stayed very tired and weak. On Monday, she didn’t want to play in the playroom and I noticed her mouth twitching on the right side just a little. It wasn’t alarming but I determined to watch for it. On Tuesday, I noticed she couldn’t hold her books; she kept dropping them as soon as she would get them. She couldn’t turn pages at all. On Wednesday, she didn’t really want to do anything, including eat. On Wednesday night, we noticed something new. Her eyes were deviating left when she wasn’t consciously looking at something. It wasn’t a seizure. She could turn her eyes and focus whenever a phone or iPad came near her. She could maintain gaze on the screen as long as she wanted to. But when she didn’t want to, they went to the left again. She’s had times of lethargy that are very apparent. All of her vitals (breathing, heart rate) have stayed strong and other than one time, she hasn’t seemed upset. She is not able to say any words either. We would assume this has something to do with the infusion but we’re not for sure. We will talk to her neurologist tomorrow to determine what it is and what we should do. It may be medicine-related as she experiences symptoms more apparently after her medicine goes into effect each morning. We will also be talking to her primary care doctor to discuss what’s happening. He has a unique perspective as a bird’s eye doctor, seeing the whole picture of maintaining her health. We don’t believe anything we’re seeing is causing more damage but it seems to be neurological.
We covet your prayers that we will have wisdom tomorrow to explain the situation and the doctors will have understanding and wisdom to address it. Really the only One Who knows what is going on exactly is the Great Physician and we know how to speak directly with Him. We also know that He can give wisdom and understanding where it is needed. We hope to see a change for her this week for the better. We have no reason to believe we won’t do the infusion this week. Because she’s only had one we can’t yet determine that the problem is caused by that or that she won’t work through it and emerge stronger on the other side. It obviously was God’s will for her to begin them so we won’t stop them unless we see His hand clearly as well. I know we all hoped that she would just feel better and better after the infusion but that’s why I’ve taken this week to adjust my expectations and learn to rest again in God’s protection of Joyanna. Philip has done pretty well this week without a lot of vomiting and really bad congestion. We are one step closer to private duty nursing for him. We had the insurance evaluation by the case manager this last week. I’m still hopeful we’ll hear something by the end of July but that’s this week basically. So, I’ll be on the phone A LOT tomorrow, calling and receiving calls back. I will try to let you know how the week progresses. Thank you for praying for us! Joyanna has done well today. There has been no negative side effects so that’s great. We decided to stop giving her pain relievers at bedtime last night and she has been fine since then. She doesn’t seem to care she has an incision on her head. It’s in a good place, opposite her part so regularly her hair will be able to cover it. But for now, we can’t really wash her hair yet and need to keep it out of the way so the incision can heal well. That means her hair is crazy because it doesn’t want to go the way it is going right now. Every time she wakes up from a nap or in the morning, it is doing something new. Ben has always teased her about her “bedhead” by calling her “Crazy Hair Lady” so she’s getting that a lot the last couple of days. Today she did all her normal daily activities. She watched some TV, looked at books, played on her iPad and we read together for a little while. She even tried to get off the couch by herself which ultimately didn’t end so well but at least she still wants to. She didn’t eat too well today. We’re trying to encourage her to keep trying. You could tell a little difference when she woke up from her nap today. She seemed a bit more alert. I’m guessing most of that is just recovering from surgery and being out of her normal routine. She does sleep so well and I think that is really a help to her. We didn’t share yesterday but the infusion doctor actually told us that she is the first child to receive the infusion outside of BioMarin-funded trials or early access programs. We thought that was so exciting! We found out from our BioMarin rep that the 2nd little girl received her first infusion today. We took this picture after the infusion had begun. We found this pillow and gave it to her yesterday. She loves Nemo and Dory and the pillow says, “An Adventure Awaits.” It was so fitting for yesterday. She looks zoned because she is...On "Little Bear" playing in front of her! Philip's sleep schedule is getting flipped upside down again since he's been out of school this summer. It's been okay. He is sleeping part of the night then wakes up and falls asleep hard from 7-11 am each morning. I am hoping when we can start home nursing for him, the nurses can help me keep him interacting some so that he is awake a little more through the day. Please pray that he'll get exactly what he needs to be okay. His tremors have increased again so we are considering medication changes. We really haven't had to adjust in quite a while so we are really thankful that he's been able to maintain for so long. Overall, he's still very content and he still has smiles for daddy and mommy and sometimes others at least weekly.
Our hearts are full at how much the God of all the universe has cared so specifically about our little family. And to think He really cares that much about every single soul. Wow! I can't quite fathom it but I can feel it every day. Praise the Lord! Thanks for praying for us and rejoicing with us this week. An Adventure Awaits! A whirlwind of activity happened between 10:45 and noon. The doctors met in Joyanna's room, placed the infusion line in the port, discharged us from the hospital and we were sitting in the waiting room of the infusion center by noon. That is without a doubt the fastest we have ever been discharged from the hospital. The nurses and doctors wanted to make it happen so that we could start and finish before 5 pm today. The nurse had it hooked up and going in very little time. Pharmacists, doctors, personnel have stopped by to observe and meet us. We are meeting many for the first time. They are all excited that this is happening. Joyanna watched cartoons for a little while but as nap time was unavoidable (she sleeps whether she wants to or not), she has gone to sleep and is resting comfortably while the medicine is going in very, very, very slowly. It is just about 2 teaspoons infused over 4 hours! That's slow! She has not had any adverse reactions and her vitals are strong! We may just schedule it during nap time every time. It surely makes 4 hours pass quicker for her.
As I'm sitting here, the experience is going so smoothly it's almost hard to believe that it's happening. We've been waiting so long. You get accustomed to telling yourself, "Just wait. Just wait." Now, my mind is having trouble transitioning to, "It's happening." It is a blessing though. Just a reminder as you're reading that results won't be immediate but the enzyme starts working immediately. What a relief to her brain! The expectation that we hope to see in the next few months is a reduction of seizures. When we see that, we can start working on weaning off seizure medications little by little. Please pray with us for that. We should be going home around 5ish today.
The surgeon just came out and said everything went well. Praise the Lord! She said she thinks the infusion doctor will not have any trouble accessing the reservoir. She didn't even have to shave much hair she said. She's in recovery and we'll be able to go back soon to sit with her as she wakes up. More updates tomorrow probably.
Joyanna has been taken back into surgery prep. The surgery will begin within the hour. The surgeon communicated to us that she will do an incision check tomorrow in the late morning and then discharge Joyanna from the hospital to go over to the infusion department and she will hopefully get the first infusion tomorrow.
The neurosurgeon's schedule is delayed because her first surgery went longer. We might be waiting a couple more hours. That's the nature of the hospital. We're just thankful we're on the schedule for today at all. It does probably mean she won't be receiving the first infusion today but we were almost expecting that now. We'll update as we know anything.
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Philip & Joyanna's Story
December 17, 2009 -
August 25, 2018 Philip's memorial slideshow and funeral service can be viewed by clicking on the "Philip" tab at the top of this page. You can read more about Joyanna's story by clicking on the "Joyanna" tab at the top of this page.
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March 2024
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