I clearly suck at blogging - I always want to write something. And I write these elaborate posts in my head but I never have time to type them out...
Brice is doing very well with his IVIG. His first infusion was January 25, 2012. Of course, he presented with a left ear infection that morning but overall, the infusion went very smoothly the day of. The following day, wasn't so great. He went to school and I was called around 10:45am because he was crying and had a headache... a migraine. My poor baby screamed the entire 10 minute drive home... then for the next 25 minutes... in addition to wretching (because of his Nissen he can't vomit). I gave him a dose of Motrin, turned all the lights out in the living room, closed the blinds and he passed out. He woke up feeling much better after the Motrin and his nap.
His second infusion was on February 22, 2012. Attempting to do his IV was a VERY traumatic event for him, myself and the nurses involved. I laid on the bed next to him with my legs wrapped around his in a death grip form (because the kid is strong) and each of my arms held one of his arms. From time-to-time I had to pin his chest down with my own. Nurse #1 held his head... Nurse #2 held/stabilized his arm... Nurse #3 did his IV. All the while Brice is screaming at the top of his little lungs - he would also insert the following phrases between long screams: "Get me out of here," "I want to leave this place," "I want to go home. I don't want an IB (because he can't say his V's)" etc. It was TRAUMATIC to say the least. I think it took around 20ish minutes and he and I were both drenched in sweat. His infusion went smoothly and no migraine the following day!
Pierce is fully potty trained! I don't remember the exact date (but I will reference FB for the date for his baby book) - but some time in early-mid January! We used the same method we used with Brice - which really wasn't a method - just child-led but once we said goodbye to diapers, that was it - no diapers or pull-ups while sleeping, etc. And it worked! And while it feels liberating to be freed from giving a ton of money over to Pampers each month, I also miss the days of just changing a diaper. Seriously, y'all... having to get up 5 times during dinner because the kid needs to potty and can't wait is it a bit tiring ;) and I am a germophobic, so the whole having to be in a public restroom so frequently gives me the heebie jeebies. And it's bittersweet - my baby isn't really a baby any more...
Brice had a very difficult time transitioning back to school post-Nissen. I think it took about 6-8 times (remember, he only goes on Tues & Thur) before he wasn't freaking out every time I left his classroom door. But he appears to have finally re-adjusted.
Brice no longer sees GI!! His Nissen was one of the BEST decisions we've made medically for him. He is no longer in pain. He is HAPPY! He no longer takes Nexium. He is eating foods that he had previously given up. Thank goodness for that surgery!!
Pierce had a genetics follow-up yesterday with our main genetics doc. He is VERY pleased with Pierce's progress developmentally. Pierce is still a peanut - weighing in at 11.5kg and 85.4cm tall. I asked if it was possible for Brice to have a very mild mito disorder as well given his health history (minus the gross motor developmental delay) and since they both are immunodeficient. We spoke more in depth about some of the ways to acquire genetically linked disorders/diseases. 1) Recessive - both George and I are carriers of the gene but we don't have the disorder but we passed it along to our children - he went into more depth mosaic (not effecting every cell) etc. 2) X-linked - maternally linked -- women are XX so they are not affected and men are XY so they are affected or 3) abnormal mitochondrial DNA - in what's considered normal, biologically-speaking, a person has 46 chromosomes (23 from mom and 23 from dad). But we all have "extra DNA," so to speak, inherited directly from the mother - called mitochondrial DNA. Both sperm and ovum have mitochondrial DNA, but the ova destroys the mito DNA in the sperm and only the maternal mito DNA is passed along to offspring.
Pierce had more bloodwork yesterday to look at his mitochondrial DNA. There are still SO many unknowns with mitochondrial disorders (just like the immunology field, both are rapidly expanding every day - plus they are soo much more under-funded than other fields like cardiology, etc). The mito DNA bloodwork will look at 1200 different things along with 12 (or is it 15?) transverse RNA sequences.... it could come back with various abnormalities or low levels of this, that or the other... but they don't know what it all means. They only thing that they are sure of are 37 different pathogenic mutations. If he has one of those 37, we will get a confirmed mito diagnosis (if you remember, he has been clinically diagnosed because of his healthy history, symptoms, abnormal organic acids/ketosis/acidosis and abnormal yet inconclusive muscle biopsy). If he was one of those 37, I will be tested next. If I am found to have any low levels, then they likely won't even have to test Brice because he will have it too - as a matter of fact, any of my offspring would be. The difference in asymptomatic vs mildly to highly symptomatic happens while the zygote is forming. It all depends on how many abnormal mitochondrion are transferred during that process. I know deep stuff - and I may have messed a bit up in translation but that's what I took in yesterday :)
Pierce had an immunology follow-up this morning. Because Pierce and Brice are following the same exact patterns immunologically, we are just putting off the inevitable with waiting on IVIG. So the decision was made today to start him on IVIG. They have to begin his paperwork and get insurance approval, which as of stated before can be a lengthy process. The game plan is for Pierce's 1st cycle to take place with Brice's 4th cycle (in April). Thankfully (maybe/maybe not) I will be able to take the boys on the same day for their infusions. The only thing that makes a bit nervous is trying to manage both while getting their IVs. I know they won't be done simultaneously but feeling like I can comfort both of them is a concern to me. We also briefly discussed starting Brice on home infusions this coming summer. He needs to do at least 2 more infusions in the hospital. If we switched to home infusions, it would be done sub-q. Home health would come in and teach us how to administer everything. We would do his infusions once a week and they would take about 2 hours to infuse. George is a bit nervous with this option because we won't be in the hospital if something were to go wrong. If it doesn't work out, then we will just go back to monthly admits for infusions.
Pierce had a sleep study in January. He has mild sleep apnea. They've recommended airway assessment (to check for an anatomical obstruction but our primary ENT wants to hold off on a sleep endoscopy until after our next sleep study (in June). He also stated that because of the underlying mitochondrial disorder, he likely won't do a T&A. He thinks that a T&A would be an unnecessary surgery because his apnea could be related to a muscle tone issue not an obstruction. If Pierce's apnea index score gets worse, the ENT wants to a CPAP trial. I mentioned all of this to our geneticist yesterday and he's not really on board with the idea of CPAP without having done a T&A first. He thinks a T&A would he helpful so that Pierce has more room, so to speak, for air to travel. He would like for us to get a second opinion - we are working on scheduling one.
Whew... I think that's it... one of these day, maybe, I will try to blog about more exciting, non-medical stuff...
