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
Showing posts with label Surgeon. Show all posts
Showing posts with label Surgeon. Show all posts
Thursday, June 7, 2012
Friday, January 13, 2012
Best doctor ever
Last night Anthony came and got in our bed, so this morning when I woke up to pump the noise woke him up. Without his eyes even being open he said "mom, I was thinking about something..." I said "ha, yeah, what was that?" to which he responded "do you know how to download Angry Birds to your phone?" So, there we go. My 5 year, who still wants to come cuddle in bed with us at night is asking to do big boy things... like play a game on my phone. Just seems strange, and sweet, all at the same time to me.
So, about yesterday. I was nervous all day because the point of this doctors appointment was to ask the surgeon, who had already said no to this question, if he would re-consider doing Dom's testicle surgery at the same time as his cleft palate surgery next week. I know I think I'm tough, but deep down inside I have never liked confrontation and it makes me crazy nervous. Now, i ma getting better about advocating for him, and as I've said before I seem to take the defensive right away when we walk into a doctors office, but this was different. I wasn't worried about battling with the nurse or dietitian over small stuff like weight and food... I was going to be talking to the doctor. I still have this thing about being scared to talk to doctors sometimes. I know it's silly, but there you go.
I was so relieved Mike was coming with me and he agreed to do the talking. As it turns out, I had no reason to worry. This surgeon is my new favorite doctor. I love him. He talked to us no less than 40 minutes... all about the test he will be doing, going over different scenarios depending on how the test comes out, talking about his experience vs the research vs all the different philosophies about when to take the testicles down. He also talked to us about his inspiration: his deceased brother who had a traumatic brain injury at 3 years who lived for another 13 years despite what the doctors said. He talked about how his brother couldn't do much, but how he was "there" and how he would play with him and do things big brothers do, like pester him. Just hearing how much he loved him, and how his life with his brother was normal, despite the obvious fact that there was nothing "normal" about it, gave me so much hope. He said he would sometimes get mad when he had to watch his brother, but how this was good, because they were just two boys being brothers... and brothers get mad at each other sometimes. He said his life with him was normal... they would play, they would fight, they would do all those things boys do, just in a different way. He also said how his brother is responsible for him becoming a surgeon. His brother inspired him to do great things. And because he grew up with a special needs child in the house, he has great empathy. He listens. He takes time to explain. He sits patiently, not like he has anything else in the world to do than to talk about your child... his most important patient. He said he knows what it's like. I almost cried several times during his talking about his brother. I was thinking "this is how I want my boys to talk about Dominic when they grow up."
So, the testicle surgery will be when Doiminic is between 8 and 12 months. The research supports this and we are at peace with waiting. And another thing, the doc said I need to seriously consider selling my home-made diaper cream, which Mike and I call "butt frosting" because it's so thick. It works. He said he would use it for his patients. Hmmm, we'll see...
In the mantle of our Mother,
Chasity
So, about yesterday. I was nervous all day because the point of this doctors appointment was to ask the surgeon, who had already said no to this question, if he would re-consider doing Dom's testicle surgery at the same time as his cleft palate surgery next week. I know I think I'm tough, but deep down inside I have never liked confrontation and it makes me crazy nervous. Now, i ma getting better about advocating for him, and as I've said before I seem to take the defensive right away when we walk into a doctors office, but this was different. I wasn't worried about battling with the nurse or dietitian over small stuff like weight and food... I was going to be talking to the doctor. I still have this thing about being scared to talk to doctors sometimes. I know it's silly, but there you go.
I was so relieved Mike was coming with me and he agreed to do the talking. As it turns out, I had no reason to worry. This surgeon is my new favorite doctor. I love him. He talked to us no less than 40 minutes... all about the test he will be doing, going over different scenarios depending on how the test comes out, talking about his experience vs the research vs all the different philosophies about when to take the testicles down. He also talked to us about his inspiration: his deceased brother who had a traumatic brain injury at 3 years who lived for another 13 years despite what the doctors said. He talked about how his brother couldn't do much, but how he was "there" and how he would play with him and do things big brothers do, like pester him. Just hearing how much he loved him, and how his life with his brother was normal, despite the obvious fact that there was nothing "normal" about it, gave me so much hope. He said he would sometimes get mad when he had to watch his brother, but how this was good, because they were just two boys being brothers... and brothers get mad at each other sometimes. He said his life with him was normal... they would play, they would fight, they would do all those things boys do, just in a different way. He also said how his brother is responsible for him becoming a surgeon. His brother inspired him to do great things. And because he grew up with a special needs child in the house, he has great empathy. He listens. He takes time to explain. He sits patiently, not like he has anything else in the world to do than to talk about your child... his most important patient. He said he knows what it's like. I almost cried several times during his talking about his brother. I was thinking "this is how I want my boys to talk about Dominic when they grow up."
So, the testicle surgery will be when Doiminic is between 8 and 12 months. The research supports this and we are at peace with waiting. And another thing, the doc said I need to seriously consider selling my home-made diaper cream, which Mike and I call "butt frosting" because it's so thick. It works. He said he would use it for his patients. Hmmm, we'll see...
In the mantle of our Mother,
Chasity
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