If you haven't read David's post below, be sure to do so, he updates you on our current situation in the hospital, but I thought it time you received the mom’s perspective. Elijah is cranky. He is really tired of being messed with. Even “nice” nurses come in and he fusses at them. He wants to go home and be snuggled and loved like a baby should be. And, more than anything, that’s what I want too.
I know David enticed you a few weeks ago saying we had results from Finland on what crazy thing caused Elijah’s uniquenesses. Here’s the scoop from a non-scientist (me). We are told Elijah has two gene mutations on RECQL4 (that’s the name of a gene). There are three syndromes that have been named in association with mutations on that particular gene (out of like 25,000 genes, by the way): Baller Gerold Syndrome, RAPADILINO and Rothmund Thompson Syndrome. Elijah’s geneticist believes Elijah has a mixture of these three syndromes as he exhibits symptoms from all three. He is a very rare case. VERY RARE.
You may be wondering how in the world Elijah would be the recipient of these two mutations. That is still up for confirmation, but the geneticists believe that David and I both happen to have one of these mutations. Everyone has messed up genes in their DNA…like 6 to 8. But since you receive a good gene from the other parent, the good gene overpowers the “bad.” So, in this rare case, David and I happen to have one of the same messed up genes (out of our 25,000 or so genes). We plan to ship our blood samples to Finland to confirm the inheritance, but expect this outcome.
I cannot really comment on all of that. Honestly, my brain cannot really process that part of our situation for now. We are so focused on dealing with Elijah’s symptoms one at a time. I wanted to know what we are dealing with and now I do. Most importantly, the RECQL4 disorder, as we’re calling it, has a higher instance of two types of cancers in life. Something we can watch for and do what we can to avoid. Our geneticist will be getting as much data as he can on the few other people in Elijah’s same situation.
By the way, if you are reading this and know of someone else like Eli, be sure to post a comment. I suspect we may need international connections, but we’ll take what we can get. We really enjoyed reading your comments in our "Tell us who you are" post. Some of you tell me that you cannot figure out how to post on a blog...simply click to read the comments "4 comments" -- or whatever the number is -- and then leave your comment.
Please pray Elijah can get comfortable and have a good night of much-needed rest. Pray this soy-based formula will work a miracle for our sweet boy.
David and I know we have been given a very demanding responsibility with our sweet Eli. We accept it with faith and humility. Thank you for your help with our journey.
With love and deep appreciation,