Tuesday, November 27, 2018

Your Make a Wish Trip

Most of you visiting our blog have probably already seen the many posts and pictures that I uploaded onto Facebook during our 9 day trip to Disneyworld a couple weeks ago. I'm writing this blog post so I can remember each and every detail of that week, before my memory starts to fade of the little things we experienced. I'm also writing it to Jameson, so I can read it to him and he can experience it again with me. Feel free to enjoy however much of it you want! :-) 

Friday 11/9/18:
I woke you up around 4 am to get ready to go to the airport. You were such a trooper as always. You pretty much slept the whole way to the airport, through security, getting on to the plane, and all the way to Chicago. By the time we arrived in Chicago around 7:30, you were starting to wake up a little. Our flight arrived a little late, so we had to rush to get to the other terminal for our flight to Orlando. Once we got on the 2nd plane and settled, you were starting to perk up and wanted to watch Puppy Dog Pals on the screen in front of you. I didn't have time to change your diaper in the airport, so Grandma and I attempted to do it on our laps on the plane, that was a nightmare! :-P 

We arrived in Orlando around 12:30 and had a very nice lady from GKTW waiting for us when we got there. She helped us with our luggage and got us to our rental car. It was so hot outside already, little did we know what the week had in store for us! We drove to GKTW and got all checked in and settled into our villa. It was wonderful; two big bedrooms, two bathrooms, a nice kitchen and living room, with a washer and dryer too. You were so happy to just lay down and relax after nearly 12 hours of travel. I turned on some cartoons for you to enjoy while we unpacked. We ordered pizza that night and made a quick run to the ice cream palace. 















Saturday 11/10/18:
We got up and around slowly, letting you sleep in as late as you wanted. Made it to Universal Studios around 11am. It was a beautiful day outside! We walked around the CityWalk and had lunch at the NBC Sports Grill & Brew. After lunch, we walked through Universal Studios and headed straight for the Harry Potter world. Walked around Diagon Alley a little, but it was so hot and crowded. Took the train to Hogsmeade and had a much better time over there as it was more open air and there were places we could sit and enjoy a Butterbeer. Stopped at Honeydukes and got lots of candy to bring home. We also stopped by the castle and got you your very own wand! 

It was a pleasant walk back to the car as the sun was going down and the crowds had dwindled. You had a great time that day, you were so happy and bright eyed all day long. 
















Sunday 11/11/18:
This was a nice rest day for us. We wanted to have one day where we could just relax and enjoy the GKTW village. After a full day of travel and a full day at Universal Studios, you definitely needed a low key day to recharge your batteries. We got up in the morning and went to breakfast at the village, then we decorated your wish star, rode the train, and had an ice cream cone somewhere along the way. We were back to the villa around noon and just spent the rest of the day watching cartoons and relaxing. It was a perfect Sunday!

 















Monday 11/12/18:
This was a crazy day! We left the villa for the Magic Kingdom around 8:30am, but you were not ready to wake up yet. You were still pretty sleepy and decided to nap in your stroller the whole way into the park, including on the ferry ride over. When we finally got inside the park, your stroller started acting up. It wouldn't turn and the wheels kept sticking, probably because we had your vent, suction, and feeding pump all weighing down this cheap stroller we'd brought with us for the trip so we didn't have to worry about damaging your wheelchair. So the first hour or so of the day was spent trying to figure out how to fix your stroller, and finally we decided to just rent a Disneyworld stroller and figure out a way to get your car seat securely in it. By the time we finally got that fixed, it was time for our lunch reservation at the Crystal Palace. You got to meet Winnie the Pooh, Tigger, Piglet, and Eeyore. They all signed your autograph book. It was so nice to be out of the crowds and heat, and just enjoy the characters. This was definitely our favorite part of the day!

After lunch, we went on a ride called 'Its a Small World,' which was really fun. I took a ton of pictures of you just watching everything around you. After that, we went on a ride called 'The Many Adventures of Winnie the Pooh'. It was a lot of fun too! When the ride was over, we bought little stuffed animals of all the characters you'd met that day so you could remember them. We walked over to the train and rode it back to the front of the park, which was very fun. We stopped at a couple shops, got a silhouette picture of you done, and met up with one of your PCH friends from Minnesota.

By the time we were back on the ferry and leaving for the day, it was already sunset. It was a beautiful ride back to the parking lot, and we got some great pictures of the lake with the castle in the background. After you went to bed that night, Grandma and Grandpa found a Target and got you a new stroller with our Make a Wish money. It worked perfect the rest of the trip!






Tuesday 11/13/18:
I tried to make this another low key day for us, especially after a full day at Disney. We slept in and headed out around 10:30am for Kennedy Space Center. I had every intention of being able to visit the ocean as well, but I had forgotten to charge your extra vent battery so we didn't have enough power to make it to both. :-( 

The drive to NASA was a little over an hour and it was a fun ride getting to see all the different landscapes, from the middle of Florida to the coast. You slept most of the way there, through security, and through us eating a quick lunch at the space center when we arrived. By the time we went to the Atlantis exhibit, you were starting to perk up for the day and enjoyed seeing all the rockets and light shows. It was a great day to be mostly indoors because it was close to 90 degrees outside! We left around 3pm in order to give us plenty of time to drive home without running out of batteries on your vent. Rookie mom mistake on that one! It would be fun to visit there again someday when we have more time to see things, and be able to visit the beach as well.
















Wednesday 11/14/18:
We spent this day at Hollywood Studios and had a great time! It was another really hot day, but we made it work. You were such a trooper through it all, and the people working there were very nice. First thing we did when we got there is stood in line to meet Vampirina. She is one of your favorite cartoons right now, so we knew we had to meet her. She was great and took plenty of time getting pictures and signing your autograph book. Then we went into the Star Wars building and met Chewbacca, Kylo Ren, and a couple of very nice storm troopers. Everyone that worked there was so nice and let us go to the front of every line. They seemed to really go out of their way to make sure you had a great time. Grandpa and Mommy were in Star Wars heaven!

After that, we tried to find a place to eat lunch and be in the air conditioning, but it was a busy day and there were long waits everywhere. It ended up working out just fine, because we found a stand selling hot dogs and BBQ sandwiches, and you got to enjoy a few licks of some Mickey ice cream!

When we were done with lunch, we walked over to the Voyage of the Little Mermaid show. It was great! Nice and cool inside, and there was so much for you to watch. Once the show was done, we started heading back for the car. It was close to 2pm, and we had pretty much already seen everything we wanted. We thought about going to the Toy Story part of the park, but it was so hot outside and you were pretty spent.

We got back to the villa at a good time, and started packing stuff up to leave the village. We were moving to the hotel the next day and wanted to get a good head start. They had come and put a Christmas tree in our villa while we were gone, so that was a nice surprise!

 
















Thursday 11/15/18:
We woke up to finish packing and loading the car while you enjoyed your morning cartoons. Around 10am, we made our way over to the star palace to see your star on the ceiling, and had one last ice cream cone. After that, we got in the car and headed over to the Dolphin Resort at Disneyworld. When we got there, the room wasn't quite ready so we walked over to the Boardwalk and had lunch. It was a beautiful day, perfect weather and overcast so you didn't have to stay covered from the sun. We strolled all the way around the lake in a big circle, and made our way back to the hotel around 2pm. By that time our room was ready, and we made our way upstairs to relax and unpack. Around 3pm, we got a knock on the door. It was a very nice lady from guest relations; they had sent you up a present to say 'thank you' for staying with them during your wish trip. It had a nice card, mickey santa hat, and big mickey gloves!

Around 5, we went down to Shula's Steakhouse at the hotel, and had a delicious dinner. It was a really nice place, and you enjoyed looking around at everything. By the time dinner was over, you were ready for bed in anticipation of our final day at the park tomorrow!




Friday 11/16/18:
This was such a wonderful day! The weather was cool, great for the miles of walking we did, and you were in such a happy mood all day long. We took the friendship boat from the Dolphin resort to Epcot around 9am. The boat ride was fun and you loved looking out the big windows. When we got to Epcot, we enjoy a giant cinnamon roll and coffee in the UK Pavilion on the way to future world. We went on a ride called 'Journey into Imagination with Figment,' and then 'The Seas with Nemo & Friends.' You loved walking around the aquarium, which you always do, and seeing the Land Pavilion. We had lunch reservations at the Garden Grille, where you got to meet Mickey Mouse, Pluto, Chip and Dale! All of them were so sweet and came around 2 or 3 times each just to rub your head and try to make you smile. The food was delicious for Mommy, Grandma, and Grandpa too!

After lunch, we went on another ride called 'Living with the Land,' and then we started making our way around the world showcase. It was quite an afternoon getting to experience all the different countries and trying to find a Christmas ornament for you in each one of them. I would have to say that our favorite pavilions were Mexico and France. Mexico had a really neat indoor market area with a fun boat ride that you were able to go on. Mommy and Grandma also enjoyed their margaritas! France was the last place we saw and it brought mommy right back to visiting Paris. We even got an amazing caricature drawn of you by a French street artist. She was wonderful with you and had the brilliant idea of making you into an astronaut!

By the time we were getting back on the boat to leave Epcot for the hotel, it was close to 5pm! What a full day that was, you were such a good boy. I think that was one of the best park days we had, because there was so much for you to see and do and the crowds were not bad at all. It also helps when the weather cooperates!



 



Saturday 11/17/18:
We flew home this day. I had heard horror stories about flying out of Orlando airport, but we had no issues going through security. There was a very nice lady with the TSA Cares program that walked us right through the lines and we were done in less than 10 minutes. We left Orlando around 10:30 and got to Chicago a few hours later. There was snow on the ground when we got there, and both you and I were not impressed! :-P  The flight from Chicago to Des Moines was short and easy, and were were back home by around 5:30 that night. Gracie was so happy to see all of us, and we were happy to be home.


Tuesday, October 2, 2018

The Big Unknown

I have to believe that one of the single most frustrating things parents deal with is when something is wrong with your child, but you don't know what it is. This is especially difficult when dealing with babies or children that cannot verbalize or communicate what is bothering them. Is it teething? A headache? Do they need to poop?

Now imagine adding a laundry list of medical issues to that child and think of all the places your mind could go. Is it a new type of seizure? A reaction to one of the 15 different medications they're on? Which one? A kidney stone moving? Is the feeding tube irritating their stomach? Do their vent settings need to be changed? It's almost a constant battle in your mind of....is this serious enough to call the doctor about? Which doctor of the 20 he sees should I call? Should I take another trip to the ER, because we know the clinic isn't an option when you have a child so complicated that most pediatricians have no clue what to do with you. 

This has been the ever present voice in the back of my head over the last few weeks. That gut feeling, that all special needs parents get, when they know something just isn't right. Spending hours on the internet looking at test results, ultrasounds and CT scan notes. Trying to find a clue, ANY CLUE, that will lead you on a path to something. Something tangible to present to your doctor so they don't think you're just another crazy mom full of hypochondriac ideas. 

So tonight I will be doing more research on the internet and combing through test results, hoping to find something a doctor has missed. Because that's what moms do when they're trying to help their child feel better. And to all the moms on the internet tonight doing the same thing...I see you and I'm with you in spirit. 

Thursday, July 5, 2018

Where we are today: Take 2

December 2013, I wrote one of my very first blog posts titled "Where we are today." If only then I'd known what a journey we'd have taken and how much different our lives would look nearly 5 years later.

I've had a hard time trying to figure out how to write this blog post. I guess maybe the easiest way to explain what happened at the CdLS conference, and why it was both a good and bad experience, is to give a little history of Jameson's diagnosis journey. 

When Jameson was born on May 3rd, 2013, we had no idea anything was wrong. Nothing had been flagged during my pregnancy and even after he was born, we initially didn't suspect anything was out of the ordinary. He did go to the NICU for some breathing and feeding issues, but he wouldn't be the first typical kiddo to do that. Two days after he was born, the NICU doctor took me into Jameson's room, all by myself, and told me he thought something wasn't right. He told me he suspected a genetic disorder and they would be taking some labs and sending them off to Mayo and the U of Chicago for testing. Fast forward 6 months, November 2013, we meet with geneticists from the U of Iowa and they tell us that Jameson has been clinically diagnosed with Cornelia deLange Syndrome. The key word here is clinically. A child can be diagnosed with a genetic disorder by finding a known gene mutation in their DNA, or they can be diagnosed like Jameson, by doctors using clinical features such as seizures, long eyelashes, heart defects, etc.  I don't know the exact number of children that are diagnosed with genetic disorders that don't have an exact gene to point to as their cause, but the holy grail of testing (Whole Exome Sequencing) only finds a gene mutation in 25% of the kids that are tested. In other words, there are a LOT of children out there for whom science has not caught up with what has caused their genetic disease. 

Fast forward to April of 2015. We decided to take Jameson to the Children's Hospital of Philadelphia to see their doctors that have the largest Cornelia deLange Syndrome center in the world. We see Dr. Ian Krantz, who is the head geneticist, and he tells us he isn't sure but is not ruling it out. We do blood work for the Whole Exome Sequencing, which comes back 9 months later with no answers. Around this time, we also have an MRI of Jameson's brain that shows us the Pontocerebellar Hypoplasia (PCH). We find support online through social media in both the CdLS and PCH worlds, making friends from across the country and world. 

Over the next 3 years, we watch as Jameson continues to grow and seems to relate more and more to his PCH siblings. While there are some CdLS kiddos that relate to us, it starts to feel more isolating the more medical issues we add to our plate. A lot of the CdLS kids are walking and communicating in their own way, while Jameson is still struggling to hold his head up. When we find out that the national CdLS conference is going to be in Minneapolis, only a 4 hour drive away, we decide this would be a great opportunity to meet with the experts again. We hadn't seen them in over 3 years and Jameson has changed so much since then. 

The CdLS conference was amazing, it really was, but it was also very difficult for us. I could tell pretty quickly that Jameson didn't look like or act like a lot of the kids. If you'd put a line up of 10 kids at the conference and Jameson, little man would be the one you'd say didn't fit quite right. When we went in for each of our consults with the doctors, they made it quite apparent to us that Jameson didn't have CdLS. We sat down with the medical director for the foundation, and the first thing she said to me was "Do you feel like you belong here?" And my instant reply was, "No." 

I don't want to make it seem like the conference was a bad experience. If anything, it was exactly what we needed to hear. I won't lie, at the time, it was very difficult, and I just wanted to hide in our hotel room because I felt out of place and weird being there. While I had this gut feeling that maybe this was going to happen someday; a doctor telling me Jameson had been misdiagnosed, I wasn't expecting it to be that weekend and I wasn't expecting it to hit me the way it did. We have lived and loved this CdLS family for nearly 5 years, and while the friendships we made will never go away, it is difficult to feel like you're starting over again. I've spent more hours scouring the internet on rare genetic diseases, cohesin complex, and the biology of the developing brain then I'd like to admit. But the alternative to no answer at all, is an answer that isn't your truth. So while it may have been hard hearing that CdLS is not part of our story anymore, it was also what we needed to hear. It's been 3 years since we did Jameson's whole exome sequencing of his DNA, and as many of you know, science changes daily! Since Jameson's whole exome sequencing was last tested, they have now found groundbreaking new treatments for Parkinson's disease that could help thousands of patients. They can even now use 3D printers for some heart transplant patients!

So while we may have been disappointed in learning that Jameson no longer has CdLS officially, we are excited and hopeful that his doctors will continue to help us find answers. More than likely, he has some extremely rare mutation (maybe Jameson syndrome??) that only a few people in the world have. And if thats our answer, then we will just have to come to terms with it. As I've said for a long time now, there is no doctor in the world that is going to tell me anything about Jameson's genetic disorder that I don't already know. Our family is the subject mater experts when it comes to Jameson, and that perfectly ok with us! :)