Friday, May 11, 2012

Week in Review

BubTar came home from a weekend in the country on Sunday and promptly spiked a fever! The next day he stayed with my mom so I could take one of my finals and when I picked him up, he told me his thumb was swollen. When we got home, his other thumb was swollen. An hour later, he went into the bathroom and called me, "Mom...I think you should look at this."


Yikes! Look familiar? Kind of like this? Or this? Not quite as impressive and he didn't have any other systemic involvement (like KayTar's vomiting), but similar! Since he had been in the country over the weekend, I checked him for ticks/bites, but all I found was a torso covered in hives! Benadryl helped the swelling come down pretty quick, but we still don't know what caused it. If it happens again, he'll have to have allergy testing...we're not supposed to have to do this stuff with him! He's been absent from school all week, with adenovirus and the high fever that comes with it, and KayTar said, "I guess God decided to change it up!" He finally seems to be feeling better today, no fever yet and he's back to arguing for sport! Joy. ;)

KayTar saw a new geneticist yesterday, Dr. N, and she was very warm and friendly...odd for a geneticist! She thinks that the most likely suspect for KayTar is mitochondrial disease and ordered nuclear mitome testing. It sequences all 448 nuclear genes that are involved in mitochondrial function. There are two sets of DNA involved in mitochondrial function, the mitochondrial DNA which is inherited from the mother and the nuclear DNA which is inherited from both parents. She has already had her mitochondrial DNA sequenced, with no abnormalities found. If she does have mitochondrial disease, her mutation is most likely in the nuclear DNA because there is not a familiar history of her condition. The test costs $17,000. YEAH. $17K. Sooo, we are hoping insurance agrees to cover it. We don't pay a co-pay on labs, so I hope that will apply here as well, because SEVENTEEN THOUSAND DOLLARS cannot be found in our couch cushions. If this test comes back clear, then she wants to order exome sequencing next. That is sequencing of all of the exons in her genome. Exons are the active parts of DNA, which code for proteins...85% of active, disease-causing mutations are found in that portion of DNA. Then there is also whole genome sequencing, which sequencing EVERY gene in EVERY part of DNA. Fingers crossed that we find something before that! We also had blood drawn to recheck her LFTs to see if they are still elevated.


Speaking of mitochondrial disease, last night I went out for dinner with a local mito moms group and it was so nice! I mean, it was nice once I got there...the drive out was a little stressful. My GPS insisted on me taking a road that I could not take (EZ Tag only and I don't have EZ Tag! Now I'm expecting a ticket/invoice because I exited onto that road without knowing!) and it would not give me an alternate route, no matter how many times I asked. I made a dozen frantic calls to Josh and he magically got me there in one piece. What a wonderful bonding experience THAT was. Haha! The dinner itself was well worth the stressful drive. It was just nice to be with people who understood this life and had so many things in common. When I talk to most people, I feel like I should use a translator, so many conditions and tests and specialists to explain to people...but all these ladies already knew all of that! It was refreshing and relaxing. I'm definitely looking forward to doing it again next month...but I won't be trusting my GPS with the directions!

In other news, the semester is over. I survived! The kids survived! Josh survived! :) He is GRADUATING tomorrow, magna cum laude! I'm SO proud of him. It hasn't been easy to get through school with a job and a family and a KayTar, but he has done it! He's the first in his family to get his bachelor's degree. I can't wait to see him walk across the stage tomorrow. SO PROUD! Hopefully, that will be me a year from now!

5 comments:

Nylonthread said...

OMG, yay Josh!!! And finding a group of like-minded friends is so worth it. Cheers!

Becca said...

Congrats to Josh! What an amazing accomplishment!!

I hope you guys can get to the bottom of this soon.

Magpie said...

Go Josh! Happy congratulatiosn!

dlefler said...

I am so glad that you found the Mito Moms group - yikes to the stressful drive, but totally worth it to find people who speak your language! Sometimes people look at me like I'm speaking some alien tongue - we don't know WHAT is the issue with Nolan, but he has a lot of "random" going on and I love it when I run into another mom who knows g-tubes and hearing aids and breathing troubles, etc.

I certainly hope insurance pays for that $17K test - ouch!

Shellye said...

Congratulations, Josh!!!!