Almost Diagnosed!

We had an appointment with Dr. K (KayTar's mito doc) last Tuesday and got some kind of big news. KayTar is now officially the closest she has ever been to being diagnosed! Dr. K said that her muscle biopsy from four years ago is 100% definitive for a metabolic myopathy and since we've ruled out basically all other types of metabolic myopathies and the report from her recent visit to the metabolics/genetics says that they, too, think that it is mitochondrial disease...that is likely what we are dealing with. She wrote orders for her protocol letter and a prescription to get her started on CoQ10 to help with energy and ability to fight through infections a little more successfully. She said that she definitely looks and functions like a mito kid, we just need to get confirmatory testing back before she puts the official, always and forever, label on her. So, it is still a bit of a waiting game, but now we are waiting with some supports in place at least! If the Transgenomic testing comes back with a known disease-causing mutation, then that'll will be that. If not, we'll move on to exome sequencing. If we don't get an answer there, we may redo her muscle biopsy...but that is quite a way down the road. For now, I'm just happy that she is being treated as though she has it and that her team is in agreement that it is the right direction to go.

We actually received her protocol letter last Thursday (they are QUICK over there!)...and wow. It certainly drives home the seriousness of the condition. In case you don't know, a protocol letter is a letter we take with us in emergent situations so time is not lost when she is in need of medical supports, such as IV fluids. It is a fast pass through the ER waiting room and into a treatment room, and I can see why! It says things like, "any person with a mitochondrial disorder can go from walking and talking to intubated and in the ICU in a very brief time period" and "There is no specific treatment for mitochondrial disease and the disease is often, but not always, fatal." and "Any change in KayTar's condition should be taken seriously as she can quickly become fatally ill." Nothing quite like seeing your worst fear typed up in official black and white on a medical document as a likely outcome! Frightening realities aside, we are thankful to have the letter in hand. In fact, last Saturday when she crashed at camp, we should have taken her to the hospital...but at that point, I didn't know which hospital to take her to or what to even tell them. At least now, we know where to go and what to tell people so that she will get the care she needs as quickly as possible. It was a rough recovery and she missed a week of school, but she went back yesterday and is doing pretty well considering!

Mostly for my own future reference, I want to discuss what exactly happened at camp and why we were so concerned. KayTar was sick and struggling, she kept spiking a fever, she wasn't tolerating her normal feeds (puked ALL over herself and the camp clinic at one point)...but she pressed on and pushed herself to have fun at camp. We usually discourage this because we know how it will end...but it was camp and she never gets these opportunities, so we let it slide. She had fun all day and then at dinner, she passed out mid-sentence. We call it "emergency shutdown mode", but she basically powers down and aside from those automatic brain functions (breathing, pulse, ect.), she is out. We moved her from the cafeteria to her cabin, from her wheelchair to her bed, changed her clothes, discovered she had lost control of her bladder (bad sign), and put her to bed...without so much as a stir from her. Then when we decided it was time to go, we packed her up, picked her up, rode to the clinic in a golf cart, put her on a sofa in the clinic, moved her to the car...all without any response. We drove home for 2 hours...no response. My anxiety was building this entire time and I just knew we would need to drop the boys at home and go straight to the hospital...but a minute away from our house, 5 hours after she powered down, she opened her eyes and said, "Are we going home?" WHEW! We were still worried, but not unconscious-child worried, which is a different class of worry altogether. Like I said, it was a rough recovery...she had bladder/bowel control issues for a few days, was on nearly continuous feeds, requiring 24 hour oxygen, and was really, really run down...but now we are *almost* back to normal! And for the record, she asserts that camp was 100% worth it all...and I happen to agree with her!

Living Well

I recently ordered/read Living Well with Mitochondrial Disease by Christy Balcells. At this point in time, KayTar is not diagnosed as having mitochondrial disease, although it is thought to be the most likely suspect for her medical issues. She is simply categorized as having a unspecified metabolic myopathy for now...however, I found a LOT of the information in the book applied to KayTar, diagnosis or no.

The book gives a great overview of what mitochondrial disease and good explanations (both simple and complex in different sections of the book) of the biochemistry of it. It gives a good overview of systems that tend to be affected (though, I noticed respiratory was not listed and I know many mito kids have issues with that) and what symptoms present most commonly. It spanned infancy to adulthood and diagnosis to palliative/hospice care. The only fault I can find with the book is that there was not a lot of information for what to DO about symptoms...gastroparesis is mentioned, but the testing, medications, and treatments for it are not explored in detail, for example. The book would likely be much too long if it went into all of these little details, but I think a more in-depth symptom management guide might be a helpful companion book to this one, if the author feels inclined to write another! The two portions that were most helpful for me were the section on hydration and creating/keeping a medical binder.

Appropriate levels of hydration are very important to people with mitochondrial disease...or with any metabolic deficiencies...or any of us as humans, really. It is MORE important when something isn't working quite right, though. According to the Holliday-Seger Formula for Maintenance Fluids that is provided in the book, KayTar should be getting 1540ml of fluid daily (based on her 22.2 kg weight) on a healthy, not overly hot day that she spends indoors. She only consistently gets about 960ml per day from her feeds/formula and I didn't realize she was getting sub-optimal fluid until now! She really struggled last summer and I wonder now if some of that was compounded by the heat and deficit in her fluids. So a few days ago, I decided to start tracking her PO intake a little better. I put a sippy cup of water in the fridge with 8 ounces in it and told her to get her drinks (as much or as little as she wanted) from that cup through the day instead of paper cups in the bathroom, ect, because I was going to measure how much she was drinking. She was VERY excited about it for some reason, so the intake her first day was WAY better than I thought. 10 ounces! I think the novelty of the situation had a bit of an impact...she said it was "like a video game". The second day she drank about the same PO, but she had to miss a whole feed because her gastroparesis was acting up (insurance is giving us crap about getting her prokinetic refilled). Yesterday was a more normal day, only 2 ounces PO. The novelty has officially worn off! Over 3 days, her highest fluid intake was 1260ml and her lowest was 1020ml. In case you don't speak in mls, she is roughly 8-16 ounces short on fluid every day. So we're going to have to figure out a way to bolus her with Gatorade throughout the day, perhaps it will help prevent the slump she was in last summer. (As an aside, I've been using the new MitoAction app to track her fluids, meds, symptoms...it isn't perfect, but it is super handy!)

The book recommends keeping a medical binder in both virtual and hard copy form...a good recommendation no matter what kind of medically complex kiddo you have! Page 1 should be a contact list, all physicians (all contacts for them, clinic, cell, fax, email...whatever you have), and 3 emergency contacts. Page 2 should be a copy of the front and back of current insurance card (and medical record #, if you happen to know it). Page 3 should be a current list of all medications (daily and PRN) with strengths, dosages, frequency. I used Google Docs for all of this because it is accessible from anywhere and I also printed a hard copy. The next sections are a bit trickier for us, so I had to make notes to get things from physicians at our next visits. The section after Medications should be Diagnosis. We don't have one! If you are like us, the book recommends getting copies of pertinent testing and results (that are applicable to the possible dx) and a H&P from the referring doc or specialist that is investigating. I also stuck a copy of The Visual Guide to KayTar in there. The following section is Emergency Protocols. We don't have any right now, but I took a photo of the pediatrician's RX from KayTar's last MRI stating she needs D5 1/2NS rather than any other fluid when sedated, fasting, or in need of IV fluids, due to her metabolic disorder. It will be a placeholder until I get a standing order written up from the pediatrician on her letter head. After that comes Notes from Specialists, with most recent copies of clinic notes and test results. Then the final section is Hospitalization records, where you can keep discharge summaries. It seems to be a pretty thorough system (and is covered in a more detailed manner in the book) and I have some collecting to do before ours is in working order!

The book was definitely worth the purchase price (Amazon has the best price!) and I have obviously found information that is applicable to us now out here in No Diagnosis Land and information that might be applicable to us in the future as well. While it isn't as thorough in some areas as I would have liked, it gives a very good overview and a lot of excellent general information that applies to mitochondrial disease and conditions like it. It is written in a very reader-friendly way and I would feel comfortable passing it along to family members, friends, or people who work with KayTar to give them a better idea of what is going on with her...they wouldn't need to read all of it, of course, but some of the sections would be very informative for them regardless of how medically-savvy they are.

Dr. K!

I guess we are going in alphabetical order this week! Yesterday was KayTar's follow-up with Dr. K, her mito/metabolic specialist. Honestly, it was kind of a waste of a morning, because Dr. K is waiting on KayTar's inaugural visit with Dr. N, her new geneticist before making additional recommendations before making her own recommendations. We were supposed to see Dr. N yesterday, too, but the appointment was rescheduled at the last minute because of a family emergency. Now we won't see her until May, so we will follow up with Dr. K in June, after that appointment and our next appointment with Dr. J. Make sense? I did get a bit of clarification on the myopathy thing from yesterday's appointment, basically it just means that she has something metabolic going on that does affect her muscles, which was seen on the muscle biopsy. Nothing more specific than that at this time. Even though we didn't really get anything else out of this particular visit (though the medical student did spend about 30 minutes examining KayTar, so I feel like we were at least donating time to the future of medicine!), it is always nice to see Dr. K and her clinic staff, because they just LOVE KayTar! They call her Little Miss Wa-BAM! because during her first visit, she lifted up her shirt and said, "Wa-BAM!" to show them her g-tube. So yesterday she Wa-BAM!ed everyone in the clinic to show them her new sock monkey TubieWhoobies. She loves the opportunity to put on a little show, so it is wonderful that they enjoy her personality so much! It was also SO nice to be seen without having insurance drama for the first time!!

After the appointment, it was time to have yesterday's labs drawn. KayTar started to get anxious and a little sad, so I made a deal with her that if she could stay calm and breathe normally during the labs, I'd get her ANOTHER sock monkey...even though yesterday's sock monkey was supposed to be a two-fer. She agreed and although she DID scream when she got stuck, she remembered the deal and did a pretty good job of calming herself and staying calm during the draws. It was important because on of the tests was a VBG and it is a more accurate measure of oxygenation and CO2 when the person is breathing appropriately when the test is done. I was SO impressed with the phlebotomist. She got KayTar in ONE stick (even though she couldn't use a tourniquet because of the VBG), which is a very rare thing, and she was so kind and chatty with KayTar during the whole process. We had to wait a while in the lab because a courier had to be called prior to the labs being drawn so she could take the VBG in immediately, and KayTar was feeling anxious and asked A LOT of questions about laboratory equipment to keep her mind off of the impending poke. The phlebotomist just kept answering her questions very kindly and patiently. She even gave KayTar a rainbow arm (and purple gloves), like she requested, and then we went and bought a rainbow monkey from the gift shop!