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! :) 

Friday, June 22, 2018

The best time of year

I don't think I could accurately describe to you all what a difference this time of year brings out in Jameson. After such a difficult winter, 6 months of illness after illness, its so amazing to see him doing so well again. (Really starts messing with your head that maybe you should move somewhere warmer year round!)  :-P

I haven't given many updates on Jameson's lungs/breathing recently, mostly because I haven't wanted to jinx it. We started a new medication for his lungs about a month ago, and its been making a world of difference for him. For the first time since last year, he's actually spending good stretches of time off the ventilator again during the day. That means, breathing on his own again without machine support! This is such a huge deal for us!! He also has starting rolling again, after months and months of not seeming interested in moving at all. I don't know if I can attribute everything to this new medication, or if its a combination of lots of other factors, but I'm incredibly grateful for however long we have with this stretch of time seeing the old little man again! The last few months, watching other PCH and CdLS kiddos struggle with surgeries and hospital stays and everything else, it just makes you feel very blessed for all the little things in life. Things like spending a few hours off the vent, rolling, smiling, taking a trip to the Art Center, or just snuggling together in a chair.

Next week will be a full week! We meet with our Make a Wish volunteers for the first time to discuss what Jameson's wish would be if he could verbalize it for us. Then on Thursday morning, we head to Minneapolis for a 3 day CdLS medical conference. Not only will we get to see doctors from the Childrens Hospital of Philadelphia that we haven't seen since our trip there 3 years ago with Jameson, but we'll get to meet all these families from across the country that we've gotten to know over social media for the last 5 years. These groups of moms/dads/caregivers that talk regularly on facebook are a lifeline for us and other CdLS families. When doctors sometimes don't even quite understand the complexities of a kiddo with a rare genetic disorder, these parents are who we turn to for answers, advice, or just a shoulder to cry on. It will be amazing getting to meet a lot of them and their kids for the first time in person.

Thanks again for stopping by and continuing with us on this crazy journey! :-)




Friday, March 2, 2018

Early 2018 Updates

Hi everyone! Thanks for stopping by and checking in. I decided I should probably write a new blog post with some medical updates since its been a while. Jameson's health seems to be changing a little in the last few months, so probably a good time to write things down before it all changes again!


After Jameson got his tracheostomy last summer, we came home and he was doing great. He did require BiPAP while he was sleeping for his sleep apnea/hypopnea, but other than that he was breathing through an HME filter during the day and working on trying to breath again through his nose and mouth with a PMV. However, once the fall season hit, he took a turn for the worse as far as his breathing goes. Since about October, he has been spending the majority of the day and night on his BiPAP machine. We pulled him out of preschool early, in hopes that it would help, but he still continued to get sick off and on throughout the winter.


Around the beginning of January, we also started to notice a change in his temperature. He has always run a little on the low side; around 97 degrees. But by mid-January he was fluctuating throughout the day between 99-101. It was completely random and didn't seem to correlate with an illness or any other symptoms like that of a virus. We kept in touch with his team at Mayo, and did random testing throughout January and February, but couldn't come up with a good reason why this was happening. Finally, his doctors at Mayo decided they wanted him to come up for some last minute appointments to try and figure out what was going on. We spent a few days in Rochester and unfortunately came home with no real answers, other than that his lungs look like they've gotten worse since last summer. So our new plan is to return to Mayo this month and get the works as far as testing goes. Brain MRI, CT scan of the lungs, 24 hour epilepsy monitoring, sedated scope of the upper and lower airways, and tons of lab work. Hopefully this will determine whether we need to be worried or if this is just another new fork in the road, leading us to a new phase of Jameson's life. Words like "regression" and "decline" are part of the conversation, and that's alright. We don't know all the answers yet, but whatever Jameson decides to throw our way we'll figure it out. Only he and God know how this journey is going to go and we're all just along for the ride.


...And what an amazing ride it is. :-)