A busy month

Welcome back and thanks for checking in! The fast-moving train that is Jameson's world of doctors and appointments has continued to move full steam ahead through the beginning of 2016. We enjoyed a little break over the holidays and now we're back to the craziness!


Through the first 4 weeks of the year Jameson has seen nephrology, endocrinology, neurology and neurosurgery. He will be seeing orthopedics and ENT in a couple weeks! It sure is busy but we're so used to it by now that we wouldn't know any different. :-) Little man had a bunch of lab work done to check his kidney function and hormones. His kidney levels came back slightly elevated from a few months ago, but his nephrologist was still very happy with his progress and overall health. His kidney disease will always be there but its something we can always work on managing. It is by no means a reason to be depressed or down, its only another example of how incredibly resilient he is.




Along with the kidney levels, we also found that Jameson has an underactive thyroid that we are now treating with medicine. Since we started this new thyroid medicine, his sleep has gotten much better than it was a couple months ago. It must be his body telling us he's happy about the new treatments!




Last but not least, we had quite a roller coaster of a trip to Minnesota last week. We were able to check many things off of little man's bucket list; riding a carousel, petting a stingray and visiting an aquarium! We also got news from his neurosurgeon that he thinks Jameson needs to have surgery on his spine this year. At first I was really taken aback. I wasn't prepared to hear that and I didn't know how to feel about it. But after taking a few days to let it settle in and talking to his doctors, it became apparent that surgery was the right thing to do.


The surgery they want to do is called a tethered spinal cord release. They believe that part of Jameson's spinal cord is attached to tissue at the bottom on the canal and therefore being pulled tight and causing nerve damage. Typically, an MRI will show this and that's how they diagnose the problem and decide on surgery. But in Jameson's case, his MRI doesn't show a tethered spinal cord. Instead he has all the classic symptoms, like weakness in his legs, issues with his bladder, constipation and scoliosis. The doctor wants to do the surgery to prevent any future damage that could happen and possibly cause chronic back and leg pain. If given the choice between a surgery and hospital stay versus irreversible damage that causes chronic pain, I don't think you have any other decision. When it comes to your child you will do everything you can to make them comfortable and give them the best quality of life possible.




So as always, we have a busy few months ahead of us! Jameson has been doing so well the last 6 months, its pretty amazing to see him learning new things every day. If I can be thankful to God for one thing above all, its for giving little man his sense of comfort in almost everything. He is pleased every single day with just being around his family and playing with his toys. It makes everything worth it when you see happiness in his eyes because he knows how loved he is. :-)

Another year of adventures

What a crazy and amazing 2015! I was just looking back through Facebook posts and images over the last year and was surprised to remember what a roller coaster ride it was. From little man's surgery the second week in January....to our trip to the Children's Hospital of Philadelphia in April....seeing new doctors at the Epilepsy center in MN throughout the year....starting Jameson's bucket list and watching him enjoy all the adventures we've been blessed to take him on....and to top the year off we finally received the results of his whole exome sequencing!


As most of you know, Jameson has been clinically diagnosed with Cornelia deLange Syndrome since he was 9 months old. It was the only diagnosis that his doctors in the NICU suspected when he was born and they made this assumption based on his features and medical issues. (Ex: long eyelashes, lots of hair, low birth weight, reflux, trouble with feedings, small chin, etc) There are 5 known gene mutations that cause CdLS and Jameson has tested negative for all of them, however there is still a decent percentage of kids that have this disorder with no genetic cause found. We ventured to the Children's Hospital of Philadelphia in April to see their doctors that specialize in CdLS and they wanted us to pursue something called a whole exome sequence. This is a blood test from Jameson, myself and Matt that looks for any gene mutation within the 20,000 genes in our body. After 6 long months we finally got the results back right before Christmas, but nothing definitive was found. There were a couple mutations of interest but nothing that explained Jameson's disorder.


This doesn't come as a disappointment or a surprise to our family, as we always knew it was a possibility we wouldn't find anything. It reiterates to us yet again that Jameson is a very special little man and most likely one in a million! :-) We will also always hold on to our diagnosis of CdLS because the groups of parents and caregivers are like a second family to us. There are a couple of programs that I'm looking into now that we might try in the future for children with extremely rare and undiagnosed disorders, one at Mayo and one at the National Institute of Health in Maryland. While part of me feels like I'm always going to want more answers, another part feels like there is never going to be a doctor or researcher that can tell me more about Jameson than myself. And as time goes on, I'm sure that will become more and more of a realization.


As always, we have a busy month coming up after this nice break in November and December! (Pray for no snowstorms!!) The second week in January we will be traveling to the U of Iowa for appointments with Endocrinology, ENT and Nephrology. The week after that we are back up to MN for appointments with our brain doctors! :-)  


I hope everyone is having a safe and enjoyable holiday season! See you all in 2016!

Another year of being thankful

It's that time of year again. The time of year where we try our best to be aware of the things we are grateful for the most.


Last year around Thanksgiving, I wrote a blog post about the things I am thankful for. So in that tradition I am dedicating a second blog post to being grateful....with a year of reflection along with it.


1.) I am thankful for nearly 4 months of seizure freedom for Jameson. His mind and body have gotten a much needed break and in that time he has blossomed. A very helpful doctor once told me that the brain is like the foundation of a house. When you're building you need the foundation to be strong and sturdy before adding the walls, windows and everything else. Seizures are constantly cracking the foundation so that the walls can't go up. Seizure freedom, thanks to his medications, allows the foundation to be strong and the rest of the house to be built around it.


2.)  I am thankful again to friends and family for their love and support for little man. I appreciate every prayer that comes his way when he's struggling....and I appreciate all the kind words of encouragement when he's doing well. I am grateful to every single person that makes a point to ask about him, even when I have nothing positive to say. The journey we all take with him is a roller coaster of emotions and its not always going to have good days. But the bad days are all worth it when he gives you that little smile...the one we have to work so hard for. :-)


3.) Lastly, I am thankful in advance. Our family heard a great sermon at church last weekend that really hit home for all of us. It was about being thankful to God in advance. I have found myself praying to God for many things over the last 2 1/2 years. I pray to God about helping Jameson have a restful night sleep so that he can work hard in physical therapy the next day. I pray to God that he will watch over Jameson when doctors are performing surgeries or thinking of the best treatments for his condition. I pray to God that he will heal Jameson's kidneys or brain or help him learn to use his legs.


Being thankful in advance is about praying in a different way. Pray to God that despite the outcome, you will be thankful. That's a hard thing to overcome but also incredibly freeing. No matter what, I will be grateful for everything we have and how far we've come. Trust that there is a greater plan to it all and therefore we can be thankful in advance that God has it under control.


Hope everyone has a great Thanksgiving holiday and remember to always be thankful!