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! :-)
No comments:
Post a Comment