Several months ago our geneticist, Dr. Kukolich, said she would present Dominic's case to the annual meeting of geneticist this spring. We were excited and hopeful that maybe some other doctor out there would see him and have an idea as to what he's got. Well, she did, and they didn't. [I just want to say one thing: Really! You get the most brilliant minds in America in the field of genetics together and they come up with nothing! Really?! Phew, I feel better now... back to my story.] We did get contacted though by a certain physician who is the director of the Biochemical genetics lab and molecular and human genetics at Baylor and Texas Children's who is doing a joint study with John Hopkins who wants to enroll Dominic in a study. For our part, we will get whole exome sequencing free (where they run his full genome panel). Mike and I also have to give blood so they can run us. The goal is to find out #1 what his mutation is, and #2 how it came about (which gene combination of Mike and I created this, or if that even played a part in it). From what I've read this work is important to be able to diagnose other people and maybe potentially find treatments in rare genetic diseases. Still some digging about what the research is targeting, but a promising prospect never the less.
On June 14th, Dominic will have surgery to bring his testicles out from his abdomen to where they should be. There are three options here: #1 do laproscopic and bring them down in one surgery, #2 remove them if they are sick looking or atrophied, in which case he will have to be on hormone replacement for his whole life, or #3 do a two step surgery if they are near the kidneys. The problem is they have been unable to find them with ultrasound studies, so he will be going in blind. Our latest ultrasound this week was a flop too, just couldn't find those boogers. The surgeon thinks they may be up by his kidneys, and if that is the case, this will be a two part surgery, with the second part happening 6 months after the first. I am concerned about having to weaken the scar tissue that is holding his intestines from twisting (remember the surgery he had a while back where they un-twisted his intestines?), creating a life threatening illness. Having this surgery though is crucial because when testicles stay in the abdomen for any period of time, the risk of testicular cancer goes way up. Bringing them down doesn't lower the chance of cancer, but will enable us to feel them so we can keep a close eye on any abnormalities.
While he is inpatient, after he recovers from the surgery, we will stay in the hospital for a possible vent weaning trial. How much more non-commital can you get here? "Possible... trial." Yes, I know, it may not work. In fact Mike and really don't think there is much of a chance it will work. Our best case scenario is being able to have him off the vent for a few hours during the day. I have this fantasy of carrying him around the house, where ever I want to go, without lugging the vent and oxygen with me, worried I will step on his tube and pull his trach out. Oh, just a few hours a day would be splendid!
Please start praying for some success for the vent trial and total success for the surgery, please!
In Jesus and Mary,
Chasity
Prayers for strength and knowledge for surgeons, Dominic, and family.
ReplyDeleteYou know I'm praying, and praying and praying!! I'm glad to hear about the testing. Maybe this round can give you some type of idea and some answers, hopefully. Even if not, the more doctors looking at his case the better.
ReplyDeleteLove you all,
Tab