One of a kind

Four planes + six cab rides + two layovers and a broken stroller = one successful trip!

Happy to say that little man did fantastically well on our mini-vacation/doctor visit. He had no problems going up and down in the plane and even did fairly well driving in a cab with the bright sun shining in! With all the medical things we're constantly dealing with, it really is nice that Jameson has such a easy going personality. He is perfectly content just sitting on mom's lap during a plane ride and looking around. :-)

We were lucky enough to meet some amazing doctors and even more amazing CdLS kiddos and their parents while we visited. It's sort of mind blowing to actually see them in person after following all their individual stories on facebook for so long. Definitely the highlight of our trip!

On Thursday, we saw a few different doctors including a geneticist, Dr Krantz. He is the expert on all things Cornelia de Lange syndrome and has helped in finding all the known genetic mutations for this disorder. To be able to have his eyes on Jameson and get his expert opinion was the main reason for our trip. We discussed a lot about the syndrome and how little man fits in some things and doesn't fit in others. If you were to make a list of traits and medical issues that arise in children that have CdLS, Jameson fits in most all of them. The issue that we're having is that Jameson also has another list of medical issues that have nothing to do with CdLS and therefore the question remains...does he have this disorder or does he have something else that we haven't found yet?

After a long discussion about it, Dr Krantz suggested we continue searching for answers through a whole exome sequencing. This is a blood test that maps all 20,000 genes in the body and looks for mutations. Three things could possibly happen with this test...

1.) We find a gene mutation to another genetic disorder, and therefore have a new diagnosis.
2.) We find a gene mutation that doesn't match any known disorders. (Perhaps he's one of a kind?)
3.) We find nothing.

While it's hard to not have any definite answers, it's also very satisfying to know that our intuition has been spot on. We've felt for months that we were missing part of the puzzle. Little man doesn't have a lot of the same medical issues as other kiddos with CdLS we've seen and he isn't developing at the same pace. While I still believe he could have CdLS, it's nice to know that these expert doctors can see what we see. That there is another piece missing that we need to continue to search for. Maybe with these new tests, we will finally be able to figure it out.

Want to say a big heartfelt THANK YOU to everyone who continues to pray and send love for Jameson. We are incredibly lucky to have such a special little man in our lives, who teaches us new ways to think about life and selflessness every day. We plan to visit a new doctor next week that specializes in childhood epilepsy and can hopefully give us new insight and treatments for little man's seizures. I'll update everyone as we hear! :-)

You can't control everything

February 28th, 2015 was not a good day. It's seems slightly ironic that on the day that is nationally recognized as "Rare Disease Awareness Day", Jameson's brain decided to have the worst seizure it's ever had. After almost 2 years of life, that was the day everything changed. Witnessing your child have a seizure and stop breathing in front of you is something I can't really describe and would never wish upon anyone. To say that I'm incredibly grateful to the paramedics, emergency room personnel and everyone that prayed for him that day is an understatement. It truly means more than you all know. 

Trying to go back to everyday life after something like that is difficult, as you can imagine. But as the hours turned to days and now weeks, I've realized you have no control over it. You work with doctors and try to find the best medications and treatments you can....and the rest you leave to God. 

I'm happy to say that Jameson is doing amazingly well, considering everything he's been through in the last few months. This weekend, he laid on his tummy and lifted his head for almost 30 seconds! It was one of the most beautiful things I've ever seen; the pride on his face for being able to hold it that long. We've been accepted by a specialized epilepsy group up in MN, so Jameson will be seeing a new group of doctors that work just with complex seizure cases. We're incredibly excited to get a new perspective and see some of the best doctors in the country to help him. 

As always, I want to extend my heartfelt gratitude for everyone that continues to pray and think of him. I have no doubt in my mind that he was put on this earth to touch each and every one of us. I feel very lucky that our family was chosen to care for such a beautiful soul. :-)

Living in the fast lane

Where does the time go? Sometimes I feel like I'm in a whirlwind and then POOF! It's almost March! Hard to believe it's been almost 2 months since little man's surgery and only 6 weeks from our much anticipated trip to the Children’s Hospital of Philadelphia. I feel like just yesterday we were meeting with our geneticist and getting the CdLS diagnosis...now here we are, so much more knowledgeable and better equipped to handle whatever life throws at us!

I'm beyond happy to report that Jameson has been doing a lot better the last couple weeks. Other than a little virus, he has been sleeping better and is back OFF the pain medication. Yay! He is still sleeping in mom's bed instead of his crib...but eh, I figure you take what you can get. I'm also about 99% sure that he really just enjoys cuddling up next to mom or grandma if she's staying with him. Who can be upset at that? ;-)

We have a big week coming up at the University of Iowa. Little man is seeing his urologist, neurologist and his neurosurgeon. He will also be having another ultrasound to check on his kidneys since surgery, an EEG to monitor his seizures and another MRI scan to check the extra fluid in his brain. It will be busy but should be pretty stress free. I've stretched it out over two days this time so hopefully we don't feel rushed. I will give updates on everything once we get them.

Thanks everyone for stopping by, hope you're staying warm and out from under the snow!