Friday, March 28, 2008

24,999 genes later

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,
Melissa

3 comments:

Anonymous said...

Mel and David,

This information is incredible. Please know that there are thousands of other --- more important --- reasons that you both are precious and special, both individually and as a couple. Give Sophia my love.

mhh

Jennifer said...

I'm not sure how I stumbled upon your web page, but when I first read about your sweet Eli, I did notice just a few similarities between him and my late nephew.

Dakota had an undiagnosed syndrome--he passed away very unexpectedly at almost 5 years of age at a time when he was thriving. He had some similar symptoms of your Eli. I'll try and recap--
*Of the 2 bones in his arm, the one that was supposed to be longer wasn't.
*He had extra or was missing ribs (Silly me, can't remember)
*He had an exceptionally high palate
*He received the majority of his nutrition through a g-tube that he received w/i his first month of life. He had learned to eat-his favorite meal was cheetos, baby m&ms, tuna or chicken salad, and tiny apple slices!
*He had a fundoplication to prevent reflux.

*We think he had a syndrome related to missing collagen or something with his connective tissue. He suffered several hiatal hernias in his short life, and after the surgery for the last one, the surgeon said he wasn't sure if it happened again if he could fix it because as he was sewing him up internally, he wasn't being held together in the typical way and they had to use some sort of netting.
*His joints were also odd. I can't explain it.
*His facial features were oddly placed. His ears were a little low, his eyes far apart, and his mouth had a unique shape.
*No muscle tone. Dakota was very floppy from birth on.
*Dakota was an amazing child with an incredible spirit in spite of his physical hardships. My family missed him daily, but are so blessed to have had him in our lives.
I'll include a link to a tribute I wrote and some pictures--you can probably tell in some of his younger ones that he had some physical issues.

Oh, and he also lived in Oklahoma! His doctors were at OU Children's.

shashank said...

Here is a link to more information about the genetics of Baller Gerold Syndrome that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Baller_Gerold_Syndrome/54. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA