Neurology

Well, the day before yesterday, we had our Upper GI Study and neurology appointment and I must say the neurology appointment was awesome.

We woke up super duper early and headed out the door at 645am so we could make it to the hospital in time for check in at 815am for her UGI. It was not so bad. but the lady doing it was frickin way too happy for my liking. Anyone ever watched Grey's Anatomy? You know that Resident who was Izzie's peer counselor? her name on the show is Dr. Sydney Heron? yeah... that's how this doctor was. She was just crazy chippery. She first started commenting on how absolutely skinny my baby was. ( i know she is skinny that's why we need to do something for her) She said that Q has a beautiful swallow, which is just awesome considering that her swallow usually isn't that "beautiful" (she usually penetrates and *almost* aspirates). And Quinn does have a hiatal hernia but otherwise structurally, everything seems very normal. I asked her if she was emptying her stomach normally and she said that she appears to be. So, i have a feeling that everything is going to be normal. We had some time to kill after that (almost 3 hours) until our neuro appointment so we went to a few halloween stores and ate a little breakfast at Denny's.

I took a picture of her stomach after our *normal* exam so the doc can see that we really aren't kidding about her stomach. Q is only on 30ml/hr of formula and she doesn't really eat anything else by mouth.

this is just her normal belly after something is in it. If i were to increase her rate to 40 or 50ml/hr she'd be in a lot of belly pain and her stomach would be rock hard and about to explode. Hence the reason she's only at 30ml/hr. Although this picture is not that bad, all that is in her stomach is the barium (they only put 30ml in her stomach) so in total counting her applejuice from denny's she only had about 4 ounces of anything that entire morning... and spaced over a 3 hour period. A normal child's stomach should not look at all bloated after 4 ounces of liquid. I dunno what she is doing with her tongue lol!

Anyway, after that we went over to our neurology appointment and wow! it was a good one.

We spent about an hour discussing Quinn's obviously declining health. We went over all my questions. We want to know once and for all if Q truly does have a mitochondrial disorder. So, she is ordering a muscle biopsy. I won't accept a clinical diagnosis. i want to know her prognosis, i want to know the protocols and i need to know what meds are safe for her and i don't want to treat something that is just "suspected". This is a HUGE label and a major diagnosis in my opinion and I don't want to play around with it. If she doesn't have it, i want to know, if she does, i want to know. I am so tired of this... "well, we don't know for sure but we think it's this." We are hoping to do the biopsy at the same time she has her J-tube/Pyloroplasty... whatever needs to be done. With Quinn's GI motility, she is very concerned that Q is not actually absorbing her seizure medications, which may be why she is maxed for weight and still having seizure activity. So she ordered a lab to be drawn late in the day (approximately 8 hours after her morning dose of seizure meds) to see how much is actually in her bloodstream. if it's low, we need to figure out another way of giving her the medication. And if that's the case, makes me wonder if she is actually absorbing all her reglan too... or any meds for that matter. but we will cross that bridge when it comes. I wouldn't be ok with her increasing the seizure medications since they are already very high doses and her motility fluctuates. She was very concerned that Quinn had not gained any weight since the beginning of August and actually lost since the beginning of the year. Which i know has to deal with her stomach motility. All of the symptoms that we are describing with Quinn (her "spicy" hands and feet, how she can't feel her cheeks sometimes, her ataxia which may be due to a lot of things and her pure exhaustion and etc) she feels that if we can get this mitochondrial diagnosis... truly get it, we can chalk it all down the an energy situation, and that would make a lot of sense. Yeah... totally does. She said it could be neuropathy, which if she has mito would be a progression of the disease, but we just need to know if this is what we are dealing with before coming to any real conclusions.

So, she is going to refer us to Dr. B in CHLA for a second opinion. we got a big ole pack of paperwork together and she is gonna fax it over for us! woo hoo! I did try to see if we could get in to see Dr. K in Houston, but we can't. they won't take our insurance. So, Dr B it is! She also wants us to start on Co Q 10.

She totally remembered Quinn's MRI from over a year ago! lol that was actually impressive. She wants to do another MRI to see if there are any changes. The last one showed some very, very minor abnormalities in her white matter. She's putting some paperwork in to get Q into PT, but only for an eval and medical stroller through our special needs insurance. And uh... yeah... lol that's about it. geeze we went over so much but it was truly a good appointment! This mito diagnosis might be a dead end, and we may never actually know what is going on with Quinn, but I'm still very happy with the care she receives right now with all her specialists. Once we put the mito diagnosis to rest, we will treat accordingly (either just keep trucking or treat her as a mito kiddo)

And after this appointment, we were suppose to see the surgeon (yesterday). So we drove all that way, down the mountain, 1.5 hours away from home, got to the waiting room and the nurse comes up to me and says. "you are going to hate me for what i'm about to say" and I was freakin out in my head. she said that she forgot to call me to cancel the appointment because the doctor was in an emergency surgery and he had to cancel his clinical. REALLY!?!? she couldn't have called me within the 24 hours that she knew about the surgery and the time of the appointment!?! omg!!! i just wanted to punch a wall~! I was so pissed off! I still am. This whole thing has been dragging out long enough. I was so pissed that I was cussing up a storm to my mom and talking about how I was just going to switch hospitals because of how dumb this whole thing is! It originally took 2 weeks from the time that we knew we needed a surgical consult to the time the first appointment was made because of paperwork and everything. That original appointment was canceled 2 hours before we were suppose to be there (while we were driving out of town even) and moved to the week after. we had that appointment then the doc wanted an additional test to be performed. Two weeks later the test gets done and we had our appointment for yesterday to follow up and now we are having to wait another week for this appointment. I'm so sick of it! I'm tired of this feeding schedule . i want her to feel better and I just want to know if something will help her. She's skinny and i want her to be fat. 

Quinnie's new feeding backpack!