this will be an unimaginative post as I am so tired I can hardly keep a coherent thought in my head.

Kendall was admitted to CHW in Milwaukee on Friday March 12th. We knew we needed to come up here and get “sick labs” drawn here at her geneticist’s lab. This is where they take a specific set of labwork when you are in “metabolic crisis”, typically as brought on by some kind of illness. Now the labs may not SHOW metabolic crisis, you may be “just sick”. But we had taken Kendall off of her B12 shots a couple weeks ago specifically so that we could see what her MMA levels are doing, and what better time to look at them than when her body is stressed out (according to the doc!) I knew Friday morning when she woke up much the same way she had on Wednesday morning that we were going to be headed for a poke at the very least – either to have bloodwork drawn (see what was going on and if she was dehydrating at all), and probably two pokes, because I was relatively sure the bloodwork would show that she needed some IV fluids. Neither of which was really an enticing prospect to me – I HATE doing that to her. But I knew we couldn’t hang out like this the whole weekend. So I called Dr. Natalie – who wasn’t there. No other doc at the office would even have a CLUE what I was talking about if I asked them to send orders to a lab for some of the tests we need to have run, so I called genetics. They offered to direct admit Kendall if I was concerned about her, which was shocking at the time, and now I wish I had just taken them up on it! Because all I did was add a ton of stress and trauma to an already long crappy day! The plan we came up with though was that we would go to the ER of CHW so they could get the proper labs drawn and then run her protocol letter (which is the specific set of instructions for fluids and meds that she needs based on what her body appears to do metabolically). So I got Karissa off to school, got some bags packed, got Kaylen take care of with a good friend, and headed up.

She was low key all morning, but was at least alert. We stopped for some coffee about an hour outside of milwaukee and I hooked her up to the monitors to see what she was doing. She was sitting in the 160’s, which isn’t spectacular for a baby sitting in a carseat mostly asleep, but it wasn’t panicking me yet either. By the time i pulled in to the ER parking lot, she was averaging a low 200 HR, and was just about as grumpy and irritable as i’ve ever seen her. The triage nurse took one look at her, one look at the labs the doc had sent over to be drawn and ran us back to a room immediately. Her temp was 104.5 and she was inconsolable. It was a miserable miserable time from there on out. 

They blew 5 IV sites trying to get one to stick (she is a notoriously “hard stick” when she is semi-hydrated, this was horrifying. But I will say this – a children’s ER is WAY better equipped to handle her and start an IV than any other hospital we have been to with her. I was very impressed.) They had to catheterize her to get urine for a few important tests, take a chest x-ray, hook her up to a bunch of wires and leads (because of her HR issues), and finally after about 4 hours she calmed down enough to have the fever go down, HR go down, and even get a little sleep. She slept peacefully for about 2 hours and then the crazy carousel started up. First they lost her urine in the lab so they came in, woke her up, and re-catheterized her. Then I came back in to comfort her, picked her up, got her settled down and set her down in the bed and her legs were completely limp  - she had lost muscle control of her hips down, so she fell right over into the crib rail and is now sporting a nice shiner, courtesy of mom! I called the nurses who had cathed her and they said that no, actually, she wasn’t kicking with her legs when they were cathing her. Awesome. I can’t imagine not kicking your legs during a procedure like that, and its just one more piece of the puzzle of what is going on with this kid. Then she calms down again – and 20 minutes later the nurse comes back – oh – the doc wants more bloodwork run and they didn’t take enough the first time. So back comes the lab tech to try to find any spot on her arm that isn’t already bruised over from the afternoon poke-fest to start the IV. Blessedly she finds a good vein.

Kendall finally calms down again, just in time for them to make the call to admit her. I am still not quite sure at this point what we’re dealing with, except on the way out of the ER and up the stairs the nurse tells me that she will be starting an antibiotic when we get to her room because kendall’s urine was growing something funky. (yes that is the technical term for it). We start the antibiotic, get kendall settled in, she is still not happy at life, but I had to go move my car from the ER lot to the parking garage and i knew if i didn’t do it then it would probably not happen and all i needed was a ticket! So I let them continue bothering kendall, went to move the car, hiked all the way back through the hospital (I am not kidding it was easily a one mile round trip from the ATTACHED parking garage!), and come back upstairs to find Kendall still just writhing in pain and discomfort. We order one dose of tylenol and check her temp – it’s 102 again. An hour later there is no change in her behavior so we check temp and add another dose of tylenol – up to 102.4. It climbed up to near 103 in the next hour (keep in mind that the antibiotics, fluids and two doses of tylenol are now on board) – and we finally got a double dose of advil ordered (it was seriously like pulling teeth to get it – i love hospitals and their systems of “orders above all” – even though I get it – it’s a PITA sometimes!). A little over an hour after the advil goes in (at 3 am), she FINALLY came back to normal range with her fever and her HR, and i was able to fall asleep, she fell asleep, and things were pretty good till this morning. Life around here starts at about 6:30 am – IF you are lucky enough to not have a blood draw ordered (which we didn’t).

Saturday was a really good day once she got about 3 total doses in of the antibiotic for the “yes she does/no she doesn’t now/oh wait, yes she does” UTI (urinary tract infection) that her urine culture was showing. My grandma and cousin came to spend the afternoon with us and give me a little break (read: I got to go shower in a big people shower on the other side of the unit!) And Kendall in general seemed to really enjoy the fun company – she was smiling, playing, engaging. Still overall very low-key and looking and acting sick, but definitely starting to turn a corner. Fever was on again/off again, legs were still like little noodles (she wouldn’t put them down like a normal response would be, they just would hang there if you picked her up), and she tired out pretty quickly, but she seemed happy. We started her on a bottle (oral feed) of 1 ounce of pedialyte. That stayed in/went in ok, so an hour later she got another one. An hour after that she seemed almost ready for bedtime, so we gave her 3 ounces of half formula/half pedialyte. She drank 2 ounces, threw the bottle, laid down for bed, and we all went across the hall to have some pizza/brownies/coke that my cousin’s husband had brought for us.

We came in the room about an hour and a half later and were all amazed at how well her numbers looked ( nice calm HR, sats staying up nicely, she seemed to be peacefully sleeping) – when i noticed that she had had a lot of alarms while we were gone (it records them into a special section of her monitor). It just seemed like she had maybe refluxed some of her bottle up into her airway and struggled with her breathing for a few minutes. This is what her pulmo thinks has been happening for a while now (in spite of her nissen surgery to prevent  the reflux from coming back up, or perhaps BECAUSE of the nissen slowing down how things go down into her stomach – no one is sure). Which is why she went inpatient in February, why we have the monitor at home now, why we have O2 support, why we have had to cut down her oral feeds especially near nap/bed times, etc. So the fact that it happened didn’t surprise me, but just as I was putting that together, we hear a horrid retching sound, Kendall’s HR monitor shoots up from 90 to 160, she flips herself over like a madman and starts screeching like she is being stabbed. We all jumped away from her crib because it was just so sudden and startling and shocking and unexpected! Just then the nurse walks in with a horrified look on her face and asks us if she is in pain of any kind. Besides the obvious answer to the question I told her that she was just refluxing her feeds and that we definitely would need some tylenol to help the pain she was clearly in.

I started venting her (opened both of her feeding ports on her tube) and everything she had eaten all afternoon came pouring back out along with a lot of other green nasty stuff (bile). When that didn’t let up we decided to put a baby diaper over her ports to let her stomach just get rid of whatever it needed to (vs. clamping the ports and causing her to retch/vomit because it was pretty clear her tummy was just not ready to be working again that hard yet. We prayed over her together, then my family left so we could figure out what was going on and get her calmed down enough to sleep again.

She finally seemed to relax after about an hour, so we decided to try pedialyte only into her j-tube at half her normal rate to see if that would work. After about a half hour it was very clear that it wasn’t going to. She was screaming out and tensing up so badly with the pain every time the pump would drip a few drops of the pedialyte in, so we turned the pump off, let both ports drain again, and again, after about an hour she was calmed down enough to try sleeping.

I was just exhausted by that point. She has had tummy troubles her whole life, mostly related to the motility (rate of movement through the GI tract) of how her muscles move food through. Or don’t move food through as is typically the case. She, like pretty much everyone else who has a GI tract, has a lot of trouble processing food when she isn’t feeling well. Of course where most people just feel this as some nausea, loss of appetite, maybe some constipation and/or diarrhea – for Kendall it means that we have to adjust how often/what/how fast she “eats” her food. And it might mean that she only gets half strength formula, or sometimes only pedialyte (which is gentle on the tummy, but keeps it moving somewhat, and keeps her at least hydrated at home if she isn’t able to tolerate food). I would say that we have motility issues that mean we adjust how she eats at LEAST every other week – definitely more so when she is fighting something off – be it a little bug or working up from one of her harder illnesses. Definitely over this past winter she has had a lot of adjusting needing to be done, which is part of why she was switched from G-tube feeds to J-tube feeds in February.

Anyways – so we deal with motility a lot. And I know that antibiotics CAN make that worse (although typically for Kendall they actually seem to HELP her gut function for the first few days – who knows why), and viruses and fevers, especially as high as kendall’s was, can also cause the stomach to just revolt a little bit in even the healthiest of individuals. I get all of that. And I do deal with all of that to what I consider a “normal” (for Kendall) degree. But as much as I was hearing these “reassurances” from the residents, I could not get through to ANYONE that this was WAY different, and WAY worse than typical motility slow-down. This was more like complete shut down. The color and amount of bile coming out, the fact that everything going into the J was migrating back up to her G and even trying to be vomited (retched) out, and that it wasn’t even that huge of an amount – couple all of that with the amount of SEVERE pain she was clearly in, and I was definitely worried.

Because at home, with her “normal” slow-downs, it takes sometimes 3-5 days to ramp her back up to her regular strength feeds, regular amounts at regular rates. I could not fathom how we were going to kickstart her stomach in the middle of still figuring out what her cultures were growing, not knowing if we would need to continue IV antibiotics or if we could switch her to oral, not knowing much of anything about what she was doing or why or what to expect – it felt very very desperate.

Around midnite (almost 2 hours after our last attempt to put the slow amount of pedialyte into her J), I started her up at 5 ml an hour of just pedialyte into the J. That is a teaspoon. Her tylenol dose is 5ml (which does get given all at once and she HAS to figure out a way to metabolize that) – so it is a very very slow drip, a very small amount. Even that much was still getting whimpers of pain from her throughout the nite, but her numbers were staying pretty stable, and I knew it was important to keep her functioning at some rate/level as much as possible. So we pushed through the nite with that. 

Oh and did I mention we got to lose an hour that nite? That was the last thing anyone needed! Kendall and I were both just exhausted.

Sunday brought its own special kind of fun, so I’ll start a new post for that (as I am just now getting around to finishing this all up bright and early on Monday morning!)

I’ll explain more about SUCLA in a sec.

I am still trying to process all that got thrown at me yesterday in the doctor’s office. so this might not make sense completely (because, you know, I think all of my other posts make SO much sense…)

In two weeks my baby will be one. One whole year. It seems in some ways like such a short time, and yet such a very very long time – all at the same time. She has endured a lifetime’s worth of pokes, prods, sticks, hospital visits and surgeries. she has fought through each illness with a strength I can only hope to possess, and come through each storm with a beautiful smile still on her little face. She is a fighter. She is amazing. She is my baby.

And for eleven and a half months, we have searched hither and yon for someone to figure her out, to put the pieces of her random puzzle of symptoms together and FIX our beautiful baby girl. Keep her out of the hospital. Help her muscles work right. Make the pain go away. I lost track of how many doctors we have seen, how many medical record numbers she has at various hospital systems throughout two states now. And yesterday, we finally found part of that answer. A large part. A part bigger than I think I wanted.

our baby has a rare metabolic disorder.

Kendall has a disorder called “Methylmalonic Acidemia”, an inborn error of fatty acid oxidation/metabolism. Essentially her body  doesn’t metabolize proteins correctly, so some of the by-products of that process get leftover in her system. Typically, being well nourished helps aid this process via a chemical binding process where vitamins bind to the leftover acids and they all get flushed happily out of the system. So well know that kendall has a large problem staying “nourished”, so that’s issue #1. With this scenario, the treatment would be just to pump her full of Vitamin B12, and hope that that chemical process kicks in and flushes the acid out of her system.

Issue #2 is that in spite of her “malnourishment”, her B12 levels are actually normal. So this process SHOULD be taking place. and it’s not. So now the doctor is stumped.

Issue #3 is that her bloodwork also points toward mitochondrial dysfunction. Mito disease. However you want to say it. It’s not pretty. It’s what i have hoped against hope that she isn’t dealing with.

Issue #3.1 is that the mitochondrial dysfunction that her issues all point towards is something known as mitochondrial depletion. More specifically -

SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

 

I had to copy that from a google page. I think it hits the limits of even Dr. Terra’s vast knowledge.

And to bring it full circle – SUCLA Sucks. As a friend told me “there’s no sugar coating that diagnosis”. Indeed there is not. I have not linked it above because I am not willing to breathe life into it yet. you are free to conduct your own medical research Google search on it. It’s not exactly sunshine lollipops and rainbows (holla Laura!). the best way to describe it is kind of like this (and I know i am oversimplifying this for those mito friends who check in here, but I am still learning!):

Mito disease is basically like having a copy machine that makes copies with a big black line through it. At some point, that big black line is going to interfere with SOMETHING you’re trying to read. Sometimes its just an annoying line (this would be things like hypotonia, maybe some nasty ear infections, lethargy, things of that nature). Sometimes though, that big black line is going to obscure some VERY IMPORTANT info (this would be things like GI tract shutdown, cardiomyopathy, kidney or liver failure).  Either way, you’re not getting good copies, and that’s never a happy thing. In fact it can be downright lethal.

Mito depletion is kind of like having a copy machine that only makes those bad copies, and will only make 10,000 copies before its done. End of story. It is always downright lethal.

KENDALL DOES NOT HAVE CONFIRMED SUCLA2 DEPLETION SYNDROME.  She just happens to fit a very clinical picture, as well as has testing that points that way. She has been entered into a research study to test for this syndrome, as well as having her cells and bloodwork sent to labs literally across the world to test for this. We are praying, dare i say PLEADING with God that this is not the full answer for Kendall.

The metabolic disorder on its own answers a lot of our questions about Kendall’s prior health history and how she is. It in and of itself will be a hard diagnosis to deal with, and will come with its own set of crazy new circumstances to deal with. It COULD BE deadly for her if she ever gets into a bad metabolic decompensation state.  I don’t want to sugarcoat this one either.  Having “Just” MMA is still going to be life-changing. Yes i would breathe a sigh of relief if it turns out to be “JUST” MMA. But she will still face lifelong challenges. She will never be able to eat a full range of normal foods. She will need her tubey in for a very very long time. She will always be weaker and have less energy than other kids. She will need to wear a MedicAlert bracelet and probably have more IV fluids than she would ever hope for in a lifetime. Little sicknesses like colds or stomach bugs will still likely mean inpatient admissions. BUT – she will survive. We will make it our mission to help her survive, and live life abundantly.

Having MMA with a secondary mitochondrial dysfunction/disease process will complicate things. Even this is not sure or confirmed yet. Her muscle biopsy is {finally} being sent for the testing it should have been sent for in June. This will tell us if her mitochondria are kind of “coming off the line” as defective (and thereby possibly CAUSING this MMA buildup), or if they are being defected by all the acid buildup. Horse and cart type of situation. Which one is which? We don’t know. Again, this is a situation we pray desperately isn’t happening. Secondary mito dysfunction is not as bad as primary mito dysfunction, but along with the metabolic disorder AND the immunodeficiency, well, you fill in the blanks. She’s up poop creek without a paddle. (I “de-roughed” that one just for you mary jane.)

So. thats what we know.

And as i sit and type this out i am clinging to the promises that God gives us in His Living Word – that he has plans for a hope and a future for us, that He knit dear Kendall together in my womb and HE KNOWS what goes on in each and every cell, molecule, strand of DNA, gene, down to the tiniest of organisms, HE. IS. ALWAYS. IN. CONTROL.

Always.

He’s got the whole world in His hands.

He has the doctors and the labs and the bloodwork and the muscle samples and the skin fibroblasts in His hands.

He has little baby Kendall in His hands.

and he will be the one who carries us through.

thank you for your prayers. thank you for joining with us on this journey. thank you for the emails and the comments and the cards and the hugs.

So.

Let’s get ready to CELEBRATE how very far this little has come, and look forward to many many more birthdays.

I know there are so many holes in this post. there’s so much I am working on today – getting nursing care set up, finding a pharmacy that can deliver ridiculous quantities of injectable B12 without mortgaging our house, trying to get info from all of her doctors about their input to her meds/care plan now that we have a diagnosis, and of course therapy therapy therapy!

and now i need some chocolate cake.

 

t-crest out.