Appointments!

On Wednesday, Quinn had her 6 month follow-up with her neurologist. Quinn's original neurologist left the office at the end of 2010 and so at the beginning of the year, she started seeing another one. We only had one visit with him and he was suppose to be fairly educated in mitochondrial diseases. I had no qualms with him at our first appointment, i just had no strong opinion of like or dislike for him, which is neither good nor bad. So we were suppose to see him on Wednesday. i'm a mom full of many appointments and there's a lot that has gone on in the past few months. Apparently, i wrote the appointment time down wrong. It was suppose to be at 1pm and I arrived at about 140pm thinking that the appointment was at 2. I was wrong! So after waiting in the office for 45 minutes to see if he would still see us, i was informed that he wouldn't! And that we had to reschedule. I couldn't believe this!!! I drove 1.5 hours down the hill to go to this appointment. Oh, i started ranting at the poor receptionists and nurses. they were all so nice and very understanding, but it's the doctor who makes the decision, not them. It's not even like i really needed much of his time! we have to see a neurologist every 6 months for insurance purposes, plus, all i really needed was to discuss a wean from one of her three seizure medications. Still, he refused to see us. So, I talked to the nurse and I told her that I wouldn't be coming back to see this doctor and asked her if there were any doctors in the office that were willing to see us at such a short notice. By this point, I had fired this doctor and was going to have to start doctor shopping, might as well start at the same office and cross my fingers, hoping I got lucky. WE DID!!! Another neuro decided that he would see us. I must say, it was probably meant to happen this way because I couldn't be any happier with the new neurologist. He is definitely a better fit for us. He was more informative, more helpful and he even read over her last clinical note before seeing us (which is more than the last one did for us). He did a thorough exam on her and noted, yet again, her right sided weakness, which has probably gotten a little worse as time goes on. He said she's much slower on the right side as well and she has a slightly droopy eye on the right side. I told him that her previous neurologist was only putting in her clinical notes that she had "probable" mitochondrial disease, which I don't entirely dispute since we don't have a definitive defective gene, however putting "probable" in the diagnosis has caused us to lose some coverage that we once had (for wheelchair, braces, therapies and some medications). So, he is clearing it up for us. She has a lot of Cerebral Palsy characteristics, which is likely not at all CP, but is definitely related to her mitochondrial disease. He gave her a diagnosis of CP because insurance will pick up coverage for her chair and braces for that. And he gave her a diagnosis for "disorders of the mitochondrial metabolism". Thanks doc! this should help us out a lot! Otherwise, this was really our first appointment with him so he couldn't really comment on any possible changes in her. He also gave us the ok to wean her off one of her seizure medications!!! yahoo!!! As far as we can tell, Quinn has been seizure free since November. I am so happy to be able to take her off another medication. Oh, and we also discussed a muscle biopsy for Quinn. He supports the idea for us to have a muscle biopsy on her because then insurance can't dispute her diagnosis ever again. We will discuss this with her mitochondiral doctor next month because it is quite possible that he will want to have it done at his hospital.

Quinn also saw her GI doctor. This appointment was basically just an update, but we also wanted him to be able to order some new supplies for Quinn. Quinn needs to have her extensions secured very well at school. Unfortunately, the only dressings she has to secure the extension is paper tape and this is ripping up her stomach! Even the paper tape itself causes cuts to appear on her tummy, ripping the tape off every day is giving her a rash and etc... So we wanted a device that can stay on her skin for at least a week but had  a flap that could be opened and closed. Someone mentioned to me the GripLok device and so that's what we asked for the GI doctor to order. Plus, we need urine bags for her drain at school, some tegaderm and some additional tape and gauzes to be sent in addition to her monthly order of supplies. I do hope the insurance company is willing to fund these as she truly needs them for school. Quinn has also lost 3 pounds. The 3 pounds weight loss in less than a month is truly a bad sign. You can sort of tell that she has lost a bit of weight too. I am hoping that the weight loss is just from draining her... so in other words, she no longer has stagnant fluid just sitting in her body, therefore her current weight is probably the most accurate reflection of what she has always been. Quinn has had a yeast rash on her butt for the past 2 months. Nystatin does nothing for it other than to keep it from getting really nasty. It's still there however and so he ordered some Diflucan (an anti-fungal) to treat her yeast as she smells completely rotten under there. We have also been having a hard time getting mirilax into her. Quinn is tolerating 40ml/hr in her J tube. This is her only source of nutrition. She has a caloric increase of 30kcal Vivonex running into her system 24 hours a day. I tried mixing her mirilax into her formula, but it completely separates the formula from the fluids! No bueno! So then I tried mixing just hte mirilax and running it into her J tube at a faster rate, but this is causing her to miss out on some much needed calories, which is also not good right now. We have previously tried Generlac for Quinn, but I noticed some blood sugar instabilities when she was on that. At this point, we don't really have a choice. So we are going to add Generlac (Lactulose) into her medication regimen, up to 50 ml a day along with her Senna to hopefully make up for the lack of mirilax. However, he is also ordering some boost fruit juice things that have calories in it so we can run mirilax mixed with that so she doesn't lose out on so many calories. We also no longer have to do the enemas as they simply don't work. Her colon contracts when it contracts and the fact that she holds the enemas in for days at a time (as in, she doesn't even push the flush out) can actually cause more harm than good. Simply put, Quinn will poop when she poops and if she doesn't poop for 2-3 weeks, we go inpatient. He took some blood to check on her nutritional status and I should get those results today. We go back in to see him in 3 months.

Will someone please tell Zevix to fix these poorly made bags!!!?