whatever it is that gets you through long reads – cause contrary to my mother’s advice (don’t worry, the shock of this will wear off for her soon enough) – this one’s gonna be long. at least i think it is. it’s been a few days removed from the chaos of last weekend. I don’t think i’ve necessarily processed through it any more, but I am least a little more numbed to it.

first things first – she is doing good now. Today she was still just the slightest bit “off”. Unfortunately everyone is except for karissa. I DREAD thinking that something is about to hit our house. I know Kendall’s not ready for it, and I just don’t know if I am either! Ben leaves again on Monday for a long (time) and long (distance) trip again. When he drives, i consider that close, even if its down to podunk southern IL or up into packers territory. When he gets on a plane – that’s the tough weeks. Especially when 3 out of 4 may be fighting some random bug. BUT – hopefully that is just my overactive imagination and they are all just being abnormally brattacular and will be over it soon. but overall – she is much much improved from where we saw her this weekend.

the Iv fluid plumpness (water reltention) has worn off. Kidneys kicked back into high gear yesterday, and she is back to her normal bony self. It made me a little sad to see. i had hopes that maybe in some weird opposite world kendall way she had actually gained weight while being so sick. No such luck it appears. We have her official nutrition appointment on monday, so we’ll see what damage has been done then. I spoke with her nutritionist today and we both agreed that our goal was going to be that she has held her weight. IF she has managed to stay the same, it will be 2 months with no actual measurable gain. (of course she has gone up and down, but for her growth curve, no gain to plot). And while I do think her clothes are adorable – i would love to be able to put NEW outfits on her, things she’s grown INto. some of you last year were so foresightful to get her outfits that were sized 3-6 months that were for winter wear. Luckily – she MIGHT fit into them by this winter! she really doesn’t “look” that bad though, for the most part. If you see her, you don’t think – oh my gosh she’s so TINY! Well, ok some people do. It’s funny the disparity between the medical community (who all think she’s totally average for her age), and random people at grocery stores and whatnot who CAN NOT believe she is 10 months. They act like she’s a baby doll or something. And I guess compared to the 19 lb baby born in Indonesia today, she probably does seem tiny by comparison!

why did i get off on a size tangent again….

anyhoo.

I am avoiding the issue.

Which was this – I was very very very scared for her this weekend. Out of the five hospitalizations she has endured, i have only been scared of losing her three other times. The first was in the NICU, when I knew nothing, and had to learn to see my baby through all those wires and machines. I had never had a baby who needed monitoring before, let alone all of the interventions kendall had in place. I was scared that she would not be normal, scared to bond with a baby who i might lose. But i think i was scared because i just didn’t know any other emotion to be at that time. the second time i was scared was the nite of her first admision in february, with the RSV. When i woke up in the dawn’s half-light and saw how grey and limp she was, i knew she didn’t have long to hang on. I was scared that she would die because i had taken too long to pay attention to her signs. I was scared that she would not be able to breathe anymore, and i didn’t know what else they could do for her. the third time I have been scared was not even during a hospitalization. It was Maundy Thursday, the day before Good Friday. I actually typed out a gutwrenching blog entry, essentially saying to God that i wasn’t ready to let her go yet, but that I felt like she wasn’t going to make it much longer. At that point we could NOT get nutrition into her and NO ONE was taking her seriously. And then the last time I was scared we were losing her was this past Saturday afternoon and evening. I think I had put on my Facebook status that I was “very worried for her”. Even that was hard to put out there, let people know that i was anything but optimistic that this was a simple fix. But my true emotions were so far beyond worry…

I don’t want to rehash everything. Not yet. maybe not ever. Suffice it to say that when the resident had to ask ME what I thought “we should do” for her, I thought i was going to hit someone. Or faint. Or hit someone as I fainted. i wanted to scream at his N*Sync-littlepunkself – “YOU’RE the one with the initials after your name Dr. Dimwit – YOU figure that out!!! And do it QUICKLY!” So i suggested a course of Iv treatment which he reluctantly agreed to. Five hours later, when her sugars were going HIGHER rather than stabilizing, he smugly comes back and announces that my treatment wasn’t working. he is lucky he can still walk, stand and talk and that he has a fighting chance of possibly being able to pro-create someday. I could tell he was in over his head when he told us that he couldn’t figure out why her liver wasn’t stepping up to help the situation (ummm, could it be because I already told you we KNOW something is wrong with her liver function???), and that if her kidney’s didn’t “wake up” soon they were going to have to do something more drastic. I think I got that info in to my updated blog post that nite. I was still in shock a little at that point. Looking back now I should have asked for them to discharge her and driven straight up to milwaukee. But at the time, it felt too surreal. her nurses were all very good, and could see that we were clearly dealing with more than just “dehydration pursuant to gastroenteritis” (which was her official discharge diagnosis), but no one could argue with that punk resident.

Until Dr. A came in. As usual. I love how that man can kick booty and take names, with his calm quiet demeanor and almost unintelligible accent. He is unequivocal in his advocacy for Kendall in the face of “lab values being normal for expected”. He gives not one rip what one set of labs say when there’s three other highly abnormal ones and a clinical presentation slapping him in the face that SHE NEEDED HELP and he was going to see that it was provided for her. Between he and Dr. K (her surgeon, who was eventually able to get her tube in on Monday), a lot of forward progress was made while we were in.

so anyways, there it is in black and white. We almost lost her on Saturday. Not because doctor’s were having to employ heroic lifesaving efforts – but because they could not see how much distress she was in. They were looking at papers and lab values, not a limp lifeless baby who had vomited over 75 times by the time it was all said and done (in 12 hours). They were too busy patting themselves on the back with book knowledge, instead of looking back at their Hippocratic oath. She was saved by the mighty power of prayer, and i don’t care how much you do or don’t believe in that – I KNOW IT. There is no way she would have pulled out without it. Her gut had shut down to the point that bile was backing up from her intestines out of her stoma at quite an alarming rate (and color!). Her liver was at a very low percentage of function. Her kidneys were, for all intents and purposes, on the Injured Reserve list, not even suiting up. I am about 75% sure that at one point she was having seizures due to the lack of appropriate sugar maintenance and the possible buildup of acidic substances in her blood. (I videotaped one episode to show to her neuro for further evaluation. i could be wrong, but I know it definitely wasn’t right or normal what she was doing. Something neurological was starting to breakdown due to the other processes at work.) Four major organs headed toward massive calamity. About the ONLY thing that seemed to be working was her pulmonary function, and even that was pretty shaky at times. Her heart was working very very hard that first nite to keep her stable. I will say this – I was not even this worried about her when she was in PICU post-surgery in June. I knew she was in pain, sure. But I was never once worried that we were losing her.

And i guess that’s about all I have to say about that.

i don’t want to re-visit it again. I want to put it back in it’s nice little black box and padlock it up and shove it to the back of the {cluttery} closet that is my brain and leave it there. I am ready to get back to sunshine and rainbows and cute little woodland creature scenes now thanks.

so this isn’t exactly pollyanna-ish in and of itself, but it’s at least not death and doom. I tried to call milwaukee to schedule Kendall with the endocrinologist as we had discussed at our last visit with genetics (a few weeks ago). They said they were going to start the referral process,a nd clearly, after a blood sugar induced hospitalization, i was pretty gungho about getting that appointment. Except it turns out that you DO have to have a referral, especially if you’d like to be seen before 2018. So I call our genetic counselor and he actually answers! Tells me I was on his list to call today because they have actually been discussing Kendall’s case further and have decided that they DO need to send her muscle biopsy for the ETC testing and they DO need to see her quicker than November and they DO also need some skin biopsies. i was, quite honestly, taken back by this news. This is pretty much 180 degrees different than their attitude had been a few weeks ago. Back then, they were pretty sure we were looking at more of a chromosomal abnormality than a mitochondrial process. Mito was not even on Dr. D’s radar he so claimed. Leave the sample alone, we might need it in a few years if new tests come out. She’s too healthy for that. Blah blah blah. We usually don’t see patients for followup for 5-6 months, but why don’t you come back in three and see where we’re at?

I don’t know if they had conversations with colleagues that changed their minds, if they received something diagnostic in the tests that were run ($4600 worth of blood tests – ACTUAL insurance amount, they were charged closer to $9000!!!!! They better d**n well have gotten sOME kind of indication for that much!!!), or if they just really felt strongly that this needed to be ruled out. What made this news all the more fantastic was that Dr. A and Dr. K had come to the SAME CONCLUSION on monday. We have to do something with that frozen sample, and we HAVE to have a look at her ETC.

• {skip this part if you don’t need Terra’s intro to nursing 101 version of the ETC test – *beep!* Turn the page…
• ETC testing stands for Electron Transport Chain and is the process (simplistically) by which food is broken down into energy that is transported into each and every cell in each and every organ in your body, thus enabling you to live, operate, eat, digest, function, think, see, hear, pee, walk, talk, spit – you get the picture. It is how your body uses fuel for energy. If something is broken in this “chain” of getting energy into your mitochondria (what runs each cell, part of your DNA) – then you have a mitochondrial dysfunction. I’ll get more into what that means later, if any of this actually has bearing on Kendall’s situation. But that’s a short version of what we’re trying to figure out. don’t ask me why you need a muscle to test this. It’s just what happens. fools fall in love, the sun rises, ETC testing is done on muscle. Period the end. Thank you for reading. *beep*}

Anyhoo. the fact that FOUR out of her 12 doctors are on the same page floored me. Because they ALSO happen to be on the same page that *I* am on for once! wonders never cease. They will be sending her samples to Cleveland and Baylor – two very good labs from what I understand, to run this highly specialized testing. It will still take weeks to possibly months to hear results, but at least it is starting. The labs have already started the process of proper specimen handling and transport, so that is a good sign.

We also have a phone conference with Immunology tomorrow (Friday) to discuss the results that they have gotten back. I am so hopeful that they will have figured out what she can and can’t eat. That we have SOME direction to start taking her in. she is so ready to eat like a real baby. She’s nowhere READY to eat like a real baby yet, but her little brain wants to be there! What i mean by that is that she definitely knows what food is, and gets that WE are eating, but (prior to being taken off food), if you give her anything more solid than stage 1 baby foods, right down to the wrong pipe it goes. Or she swallows it whole (or attempts to, and the ensuing chaos of doing the “baby heimlich” is just too much excitement for one fry). Anyways – she still has a long way to go before she CAN eat like a baby, but she sure does want to!

So that’s what I know right now about her medical status update.  Oh – we DID get an appointment for endocrinology – this Tuesday at 2:45. Since Ben is going to be in the great state of Pennsylvania – i may be calling on those of you have volunteered to be my “backups”. The sheer logistics of bus stops, driving, kaylen, traffic and the million other things that tend to go wrong on these days is making my brain hurt. And then we get to do it all over again the next week too! And i am relatively positive that genetics will want us up the week AFTER that just to be cruel.

Thank you so much for all the continued prayers and support. The little cards of encouragement and the little treats are so often JUST the pick me up that I need. you are an amazing group of friends and family.

I hope you all have a GREAT weekend. It’s  supposed to be pretty nice weather around here – I hope to get at least one more good cookout in before the snow hits! (ok by that i mean that i hope Ben will grill out steaks and mushrooms for me one more time because I have been forbidden from touching anything as flammable as the gas tanks on the grill with a match in one hand ready to light the burners.)

TGIF!!!

terra

It is so very good to be home.

This was a tough weekend. I think, to be honest, it will take me a while to fully be able to process how i think and feel about all that happened. Or didn’t happen. I didn’t expect anything more than that she would just be kept alive, but you know, you always  KIND OF hope that maybe someone will ask the right questions, order the right labs, and THE ANSWER will make itself known. Didn’t happen this time though!

I am in that fog that envelops you after you come home from being inpatient. Even though it was only three days this time, your body adjusts to this very odd lack of real time in the hospital. You get little sunlight in our tower, so its hard to tell what the real world is doing. You run on a lot of adrenaline and even more vending machine fuel. You watch stupid television simply because its a distraction. And you ride the time between vitals checks and rounds and the next big test.

so then you come home, and your body rebels against the sudden thrust back into having to walk more than ten feet to the bathroom and maybe thirty feet to the nutrition room. And having to deal with more than one child and having to be your own night nurse and make sure she’s still breathing and hasn’t yanked her tube. It’s a tough re-entry. But i’ll be all good tomorrow.

I know I still have a lot to process from this weekend’s visit. Saturday afternoon was probably one of the roughest times I have ever had as Kendall’s mom. I am not quite done internally processing it. And my mother told me I write too much anyways. i need to make my posts shorter she says. My dad just tells me I don’t have the shoulders to write long blog posts. i need therapy.  maybe we all do.

so instead of dealing with it in this tired adrenaline-depleted state, i’ll shove that all down and laugh out loud instead. i told some friends I’d post this here.

LAY OFF ME I’M STARVINGGGG!

Cause sometimes you just need an old school laugh out loud time.

thank you from the bottom of all of our hearts for the prayers and thoughts on Saturday. we KNOW that they are truly what kept Kendall here with us, as she is now, still her smiley self – bouncing back with an amazing strength from a hellish weekend. She was so excited to be back in her bed last nite, and ECSTATIC to see her sisters this morning when we all woke up.

she is tired today a little more than usual, and spiked a nice little fever this afternoon, which i decided to treat with tylenol, a nap, and a hefty dose of ignorance. And sure enough – all of the above took care of it! I hope that isn’t a fun new side effect of Kendall disease – random fevers. i mean, she has NOn-random fevers now (she starts out every day at 97.3 and will be up to 99 something at some point EVERY DAY). The 100 she got to today was a little disturbing, because she also FELT like she was burning up (and her body likes to do things in opposite world – like last week when she felt burning up and her temp was 95.) But whatever. Kendall disease strikes again!

I have every faith that tomorrow (oh my gosh it’s today already….) TODAY will be a better day. We’ll all feel better. all be recovered. I will be able to function again. Create a to-do list and actually get things crossed off of it.

yep. that’s what i am going to do.

right after i make a big pot of coffee.

hope you enjoyed this shortened version of terra talking. don’t get used to it. my verbose self will be back from her hiatus soon.

terra

I would daresay information OVERLOAD, but maybe i am just currently having a hard time processing through getting it all at once, vs. it just being way too much info.

We still have no diagnosis, no firm answers, no real treatment plan. But overall, this week’s trip to Milwaukee was good, and i think is definitely heading us in the right direction. I’ll try to remember as many details as I can here…

Let’s see first up was Genetics. We were told ahead of time that this would be at least a 2 hour long appointment. I wish that I had thought ahead to bring a snack or something for myself because it was in the middle of the afternoon and by the time we got out of there i was about to gnaw my own arm off – this could be due to the simple fact that we did not eat lunch before going, OR the fact that I like to do a lot of nervous eating. Either/or.

So we first meet with Jeff the genetic counselor. He is a very nice guy, has read through all our reports, but has us recount our entire journey with kendall, asking guiding questions, asking about our extended family’s health issues, making fun little charts and whatnot. We reviewed a few of her labs in our “great big book of everything medical for kendall”, and then he went to meet with Dr. D, the actual geneticist. They conferenced for a while and then came back in to meet us. My impressions of Dr. D were that he is one of those guys who is SO smart, and whose head is SO full of amazing minute knowledge that he has a hard time breaking it down regular-people style. He also has this wonderfully lilting accent which I can’t place but I found myself being lulled into peaceful thinking by his accent and losing focus on the words which I could barely understand.

what i THINK the main point of our meeting with him was this – Kendall does NOT right now appear to have anything drastically wrong with her liver. He does want to do a few further blood tests to check its function, but feels that the initial results we are seeing aren’t quite worthy of getting our feathers ruffled at this point. Again he used the now infamous “her nutritional status is probably more reflective of the reason for this elevation than any actual disease process”. Pro-cess he says it. Ok neat whatever! BUTWHYTHEHECKISHERNUTRITIONALSTATUSSTILLCOMPROMISED?????? I wanted to scream that but i didn’t. be proud of me.

so onward we march with OTHER ideas. After completing a thorough physical exam of her, he identified a few physical markers that could be indicative of genetic diseases, or they could just be variations on Ben and I’s genes. Her triangular face, wideset eyes, and flat nose bridge were the ones he immediately picked up on. He said that what her physical features led him to pick up on were a set of something whereby she has received two copies of specific chromosomes from either ben or myself. Typically you receive one copy of each from your mom and your dad. We have already had her chromosome analysis tell us that she has the right AMOUNT of chromosomes, and that the chromosomes themselves appear to all be in the correct shape, containing the correct amounts of material. What he wants to test is a breakdown of each pair, compare it to what Ben and my chromosomes look like, and see if she got any of these same-parent twinsets essentially. There are two specific diseases he is looking at right now, as well as I think a few others that he is just kind of throwing out there to see what comes back diagnostically.

He is overall not concerned with her metabolic labs because they just aren’t crazy “enough” for him right now, especially given how well she currently is. So he wants to re-run some of those to see if there are underlying disturbances that are worsening in spite of her well-appearing behavior right now. Right now he is not thinking that we are headed towards a diagnosis of mitochondrial disease, but is interested in the muscle biopsy results (tuck that away because it will become important to our story in just a few minutes!). Overall, the plan is to run a slew of more bloodwork, call us back in two weeks when that comes back, and see her back in about a month to run round 2 of tests if all of these prove to be negative. He is very upfront about the fact that geneticists HOPE to have about a 5 % hit rate in diagnosing stuff the first time. So he is NOT confident that what we are testing for now is her sure and firm diagnosis, but feels that this will head us in the right direction at the very least. As backwards as that may sound, it’s actually strangely reassuring to me at least, because at least we know upfront that there is more to test for, but that it is a specific journey Dr. D is trying to go on, vs. just throwing a lot of spaghetti against the wall and seeing what sticks (which is how i would describe most of her other medical care/testing up to this point.) Towards the end of the appointment he was discussing a certain way that tests can come back looking and I said, “oh, it’s like my thyroid tests – they all come back with the right numbers, but if you look at the pattern, it shows that i’m not actually able to convert any of those numbers into useable energy”. His jaw drops open and he looks at the genetic counselor and med student who both  looked at me like – you COULD have shared that info with us when we were taking your medical history!!!! Yeah probably should have mentioned that one. But to me it’s such a non-factor most days that I really didn’t think of it. So I explained to Dr. D how I am essentially hypothyroid, had the cyst on my thyroid when I was little, blah blah blah. He essentially yelled at me for endangering not only my life but the lives of my girls by not seeking true and adequate medical care for a very serious condition, because apparently what I have is not just hypothyroid but a precursor to a disease that causes thyroid cancer. Ok scare the crap out of me, make me feel like a bad mom AND make my husband go “i told you so” all in about ten seconds please! So needless to say, I WILL be finding a doctor. Yes i just put that in writing. I am officially firing Dr. Urgentcare and finding a real doctor with a real office where they always practice at. (and random sidenote of the day – isn’t it interesting that we call it “practicing” medicine? Like when do you think they will stop practicing and actually execute?)

anyways – so that’s our game plan. Check a bunch of stuff out in Kendall’s bloodwork, and our bloodwork, fix mom, get results in two weeks and make a game plan from there. Probably more bloodwork in October and if that STILL doesn’t yield results, then perhaps some more invasive testing/procedures in November to dig a little deeper. We are also supposed to get Kendall seen by an Endocrinologist to try to determine some of the blood sugar issues we do see happen on an almost daily basis. So now we have this listing of doctors who are all managing Kendall’s “malnutrition” -

1. Pediatrician
2. Pulmonology (for lung/respiratory issues)
3. Neurology (x2 – LG docs when inpatient, and outpatient at Rush)
4. Nephrology (for her enlarged kidneys/weird urination issues)
5. Cardiology (monitoring her heart defects)
6. GI – Gastroenterology – self explanatory!
7. Surgeons – continued G-tube site care, other issues as needed
8. Audiology – tracking her hearing concerns
9. Genetics – trying to find the one main disease cause
10. Immunology – addressing food allergy/vaccine intolerance issues
11. Endocrinology – managing hormonal issues

12 doctors, their nurses, 4 therapists (speech, occupational, physical, developmental), 3 dieticians (one for health, one for weight gain monitoring, one for food allergies), and a partridge in a pear tree. AND WE STILL DON’T KNOW WHAT IS WRONG WITH HER!!! It’s amazing to me. And yet, as frustrating as all this may seem, I have worked through a lot of that frustration and am slowly coming around to realizing that sometimes things just take time. But God is still in control. As sick as I have seen Kendall get, and as crazy as some days end up turning out with her weirdnesses on top of all the other kids’ issues, we are still blessed. And I don’t think you can fully realize or appreciate how VERY LUCKY you are, we all are, until you have sat in the hallways and waiting rooms of a place like children’s – any children’s hospital really. There are rows upon rows of handicap spaces in the parking structure, and you realize – every single one of those cars isn’t parked there because it’s little old lady and her cane (i’m not knocking little old ladies, their canes, or their need for a handicap placard!) – but you realize, those cars are full of teeny tiny wheelchairs, and the kids who NEED them. kids who may never walk or run or fall off their bike. Kids whose strollers house more medical equipment than our local urgent care center. Backpack sized ventilators and tracheostomy suction devices. Feeding pumps and ileostomy bags. Oxygen tanks, pulse oximeters, and nasal cannulas to deliver it with. Things a baby or a 5 year old or a teenager should NEVER have to deal with. You see things like this being pushed through the hallways and you realize how very good you have it. Sure, you still kind of longingly look at the kids who are there cause they broke their arm doing regular kid things, or they just happen to have a pediatrician in the building and maybe they are having a sore throat – the regular kid things. But overall, in spite of all we deal with, we are very lucky. This has been a good summer for Kendall. She has not had any more pneumonia since her surgery in June. The weather has been such that she has been able to be outside and enjoying it (in spite of it appearing like that would not happen based on her reactions to the early heat of May and June!). She has gained a pound or two and is now a little more capable of fighting off (we hope!) any winter illnesses which are bound to come. Speaking of infections, let me get off this little side train to rambling and get back to the main story…

So after our genetics appointment on Tuesday afternoon, we went back to my dear wonderful family’s house (hi family! thank you so much for being our very own Ronald McDonald house! you’re wonderful and amazing and so generous and we couldn’t do it without you!), where we had a nice pizza party, watched America’s Got Talent (which I’m not so sure…) and in general were able to just kind of forget about why we were there and just have fun. Early Wednesday morning we woke up to head back over to the hospital for our Immunology appointment. We actually got stuck in Milwaukee “traffic”. But we get to the office and it’s totally empty…I actually thought we might have had the wrong day. But no, they call us back, give us more forms to fill out, and send in a doctor! Again, he is a very nice doctor who starts to get increasingly alarmed as I am describing some of what we see happen to Kendall every time she is exposed to a new food. Baby food here people. It’s crazy. And throw in the fact that she appears to go into complete shutdown mode every time she gets a vaccination, and we clearly have a problem. And Dr. S knows it! After speaking with us for about half an hour, he goes to confer with his senior doctor and come up with a plan of attack. They take the big book of everything medical for kendall with them, and i start making the OTHER 309 phone calls I need to make. I am able to reschedule therapy, update facebook, call the ENT office for Kaylen and her big blue pointy ear-embedded object, and call the neuro to check on kendall’s muscle biopsy results.

The Immunologists come back in and tell us that they feel Kendall may have a VERY rare two-pronged response to allergens and invaders. The cells in your body which create antibodies to BAD things sometimes create antibodies to specific foods, which results in food allergies. And sometimes your body doesn’t learn how to create antibodies to certain bacteria and/or viruses, so you get sick. Basically it looks like Kendall’s body does the exact opposite of what it’s supposed to do (raise your hand if that surprises you in ANY way!) Her body IS attacking food. all food, any food. It’s all an invader that her body cannot and will not process. They feel that this a very straightforward diagnosis (IgE mediated related food allergies secondary to MSPI/FPIES). Less straightforward is the diagnosis regarding her body’s actual ability to create immunities against illnesses and/or fight illnesses when she does get them.  It is very rare to have both of these issues together, so they are trying to first eliminate her vaccine reactions as being more of the food related issue due to the “fillers” they put in vaccines (egg protein, gelatin, cadaver skin, killer worms from mexico, etc.) BUT – of course they are running MORE BLOODWORK to determine what is going on.

Course of action from immuno – no more food for two weeks till we get results in and see what specifically is it that she’s reacting to. And by food I mean no more baby food (prunes, pears, applesauce, etc.) She will still be getting her insane amounts of elemental formula via tube and occasional bottles, but no more attempts at eating like a normal baby. They are also contacting her GI to have a discussion pushing for the GJ tube to be placed. I am somewhat confused by this as I am not sure why an allergy doctor is concerned about where/how the food gets into a kid when it’s not like she can have real food anyways – but hey, let them duke it out. AND in the hardest to swallow for some reason, we were given a prescription for epi-pens. My sister tells me this is actually not medically sound as epi-pen jr’s are not to be used until they are closer to 25 lbs, but I guess from this side of things, that could easily take us another 2 years to get there so maybe they just had to do what they had to do! The doctor gave us our training and made sure we understand that even though thus far her reactions have been mild to moderate, not needing any more support than just a nebulizer treatment at home, that apparently it’s not something you want to cavalierly mess around with. He said, “do you know for sure that it’s her 18th or her 7th exposure to a food that is going to be the one where it turns fatal? is this really something you want to play roulette with?” Ok point taken and duly noted. No more food. I get it.

So they will also call us in two weeks to discuss the results of these labs we had drawn, and we see them again on the 7th of October to go further into a game plan. We meet with their dietician on the 28th of October to discuss what we can do to keep getting calories into her in as normal of a way as possible. HOPEFULLY I can schedule her three or four other followup appointments at the same time so we can do it all in one trip again!

So what do we know from all these appointments"?

• Right now her liver appears to be free of cancer/tumors, but it is possibly malfunctioning due to some unknown process.  Labs are being run to determine what, if any malfunction there is, and this MAY lead us to a diagnostic process if certain things continue to come back elevated. For now, the liver tumor scare is off the table!

We are looking at a possible disease affecting growth hormone production/processing. Does this explain her CURRENT state of health? yes. Does it address why she’s had issues from birth? Not so much. I think it’s a good idea on the doc’s part to test, but I don’t feel that it is her likely overall diagnosis.

Clearly her body is not processing foreign substances of any kind, and this may require treatment with specific antibiotics and/or steroids to control her body’s out of whack responses.

Overall, her body is still “malnourished” in that it is not properly using and processing the nutrition she is receiving. At this point I’ve given up on getting her to gain weight like they’d like to see – I’d just really like to see her actually gain ENERGY and strength from her food and be able to play like I know she wants to. No one seems to be able to answer that question for me though yet. they all say “wait for the muscle biopsy”.

so I called the neuro to see if she was successful in tracking down the muscle biopsy results. She has a nurse tell me that they said there was too much tendon in the muscle to properly test it. I am confused because that is what the initial PATHOLOGY report said (which is looking at the muscle fibers themselves), but what I am wanting to know is the electron microscopy results. No one knows what happened to her muscle after it was looked at pathologically. THAT is what I am trying to find out. I am hovering very near a line of desperation over this as no one takes any of her energy issues seriously, and won’t until we get the ETC results back – and THAT is where we seem to be stuck. Did her surgeon really screw up the muscle biopsy???? Did the sample ever even get sent on for further ETC testing? Has it been sitting in a freezer in some lab for the last three months??? This is so not what I have time to track down today. Plus I have to call and figure out where we are with the ABR/hearing test thing since her speech therapist told me yesterday that it was imperative we move forward with that because she has not seen Kendall do anything more speechwise than what some of her deaf babies can do on their own, and in fact she is more behind than she would expect by this time (6 month followup for therapy). Awesome.

And oh yeah I have to run by my office, get some work done for our big kickoff sunday this sunday, run everyone to the chiro office, run to Kaylen’s ENT to have the blue thing removed and be home in time for the schoolbus for Karissa. Kendall is starting to act like her colon has shut down again which means it is not going to be a fun day for her. All of this to say – if I survive this day I will be very proud of myself!

but we will survive. We always do. God is good and he is faithful and he takes care of your every need. He does it in miraculous, tear-inducing ways. He does it via random text messages and envelopes stuffed into your hands when you’re saying goodbye.

I hope you all get to experience a little piece of your own miracle today. Every DAY is a miracle. Enjoy today for all you can. Hug your kids. Tell them you love them even if they are driving you crazy.

and have a GREAT day!

terra

So i was doing good at blogging – i think i had three straight days last week maybe? And then it just got hectic around here again. After last week’s visit, lots more phone calls ensued, results were faxed hither and yon, consults were given back and forth and…here we are. Most notably what we came away with on Friday afternoon were instructions from Kendall’s neurologist to have a specific blood test re-ran ASAP – an AFP tumor marker. This will be passed on to genetics when we go in on Tuesday afternoon to meet with that team. No idea if they will want to pursue it further before test results are back on that, or how long the test will take to come back. Basically it is a test that only measures one thing – liver function. When it’s elevated, about 95% of the time it is due to a liver tumor. There are a few very rare causes of it being elevated, and most of them involve autoimmune and/or kidney function issues. Right now I am comforted by the fact that Kendall’s levels are not astronomical. For a level that should be “0”, it’s not comforting that hers is well above that, but I think it would be MUCH higher if we are actually dealing with cancer.

That’s what I tell myself anyways.

It doesn’t really make it easier to swallow though on this long weekend. At the very least it indicates that there is some degree of liver damage as a cause of all of her other metabolic crises (as I was worried about a few months ago when it became obvious that her body was overcompensating for its usual wonky cycles.) There were other levels in her bloodwork which were very off, indicating that things are  definitely not as happy sunshine as they appear to be when you see this shy little ball of cuteness out and about! And in spite of how badly i think all of these bad results suck – I remain hopeful – that maybe NOW someone will have the pieces to the puzzle that they need on how to diagnose her, so that we can start to fix her. Maybe these results will be the arrow pointing to JUST the right part of the book for someone to remember something about this in their Rare Diseases 301 class.

The weight of this latest news was weighing so heavily on me yesterday – just building in intensity, and being added onto by worries over the money for gas for all these trips up north, the fact that she was JUST FINALLY starting to return to normal after the vaccination ten days prior, knowing that we are going to have to make adjustments to the fact that she will need a special stroller – all of these things just kept piling on top of each other and i was very very teary by yesterday evening. Woke up even more teary this morning. And I knew that it was too big of a burden for me to carry alone. I knew I had to tell people who would ask – how are things this week? how is kendall? – I knew that to keep it bottled up would only end up hurting me more. So I told our pastor, who was able to share it with the church, and somehow in that act, I began to feel a little lighter about it. I know it’s not like it all magically felt better – but somehow, the act of giving voice to it made it less scary. Making a mental choice to not carry that big burden by myself made it feel lighter. I know we are surrounded by amazing friends and family at our church, and that they were picking up pieces of the burden to carry with us. It was an amazing feeling.

And we’ve been able to come home and try to enjoy every minute of togetherness that we can as a family this weekend. I am able to put thoughts of medical records and lab reports out of my mind, able to focus on time with the girls instead of appointments with genetic counselors and immunologists. So thank you to every one of you who have helped pick up a piece of that burden by praying with and for us.

BUT – in typical Atkinson household fashion – Kaylen was once again complaining about her “ears hurt” (a common complaint over the past few weeks, but i can see no evidence of infection or any cause of pain, so have just chalked it up to a crazy toddler thing). I looked in her ears with the ear looker thingy that I got when Karissa was averaging an ear infection a week back in the day, and WHAT DO YOU KNOW…..peeking around the corner in kaylen’s ear was a LARGE BLUE OBJECT. I’d like to hope it’s just her tympanostomy tube pushing its way out (as they are prone to do after a year or two), but it has a distinctive blue color and a point to it’s tip – which is NOTHING like what karissa’s tubes looked like.

So yay – add yet another appointment on to the never ending carousel of docs for kaylen to have outpatient surgery performed on her ears to remove whatever random object is stuck in there! At least we found the cause of ear hurt finally! You know, sometimes you just have to laugh because otherwise you’d be cryin’ your eyes out, right?

So that’s our weekend. Trying not to worry too much, trying to enjoy every second of chaos we can in the midst of emotional upheavals.

And i’ll leave you with this little ray of sunshine – kendall being tickled by ben, with the most beautiful sound of giggly laughter i’ve ever heard.

Hope you have a wonderful holiday weekend!!!

terra (and the whole rest of the gang)

The title for today’s post comes from my own personal reaction to our appointment this morning in Milwaukee. Our wonderful doc comes in and tells me he is so relieved to see that she gained weight that he will not be sending her for surgery as he had called us up there to tell us. WHAT? I mean, I know he had mentioned it at our last appointment, but I really didn’t even remotely think that’s what the hullaballoo was about to get us up there faster. The surgery he was going to send us for was to have a j-tube placed to address kendall’s feeding problems.

Right now, she has a G-tube (gastrostomy, meaning hole into the stomach). We’re just bypassing her esophagus at this point since that muscle was having so much trouble moving food down. She has what is called a “mic-key button” placed into her G-tube site, and we hook a plastic tube (extension) onto her button when we hook her up to feed. There is a possibility of getting a “G-J mic-key button” placed, which would have one port go into her stomach still (as it does now) but would have another port with a tube that threads down her pylorus into her jejeunum (hence the J part, jejeunal feeds, meaning into the intestine). This wouldn’t be too large of a change for her, as she is currently on nearly continous feeds, and most kids need continuous feeds via their J-tube because your intestines can’t absorb at near the rate that your stomach can.  Is that all clear as mud? Good.

So what her doc wanted to do was put in a surgical J-tube – meaning she would need a new hole put into her stomach with direct access to her jejeunum. For all my P2P tube feeding friends, I really have no idea the reasoning behind this except that she has already pulled her g-tube twice in less than three months so i am thinking he thought the g-j button would not be ideal? He didn’t get into hard and fast reasons with me. 

BUT – the great amazingly awesome news is that she DOESN’T need to go on J-feeds yet, because  by the skin of her teeth she gained JUST enough for him to say she is doing ok on her current schedule. In spite of a suspected 7 ounce loss from last week’s ped visit (she had a diaper on, different scales, etc plus her inability to consume her usual amounts of food for almost a week), she had gained 10 grams per day from our last visit. He wanted her to be between 10-13 grams of gain per day to avoid the surgery.  So Praise the Lord! AND – the theory of murphy’s law in reverse does work. I packed a bag as “ju-ju” against having to go inpatient and it worked!

Anyways – I had no idea that that’s what we were going to be walking in to – and I am glad now that i didn’t know. I would have stressed out over whether she was headed for it or not if I had known. And for now, at least, it’s a moot point. I do love our doctor’s willingness to be very straightforward in that, she may hold off on it for a year, she may never need it, and it might be only a few months till we have this conversation again. No telling. He also made it a point to tell us that if she is exhibiting more coughing/refluxy/vomiting episodes that it is likely a sign that her fundo (nissen wrap around her stomach) is slipping, coming undone. The hope is that it stays in place long enough to give her muscles a chance to grow into a better coordination pattern and for her to grow out of a vomiting pattern. Around a year (for normally developing kids) is when they see that happen. If hers becomes all the way undone, there is a chance we could have it re-wrapped (some surgeons do it twice, others won’t touch it once its come undone once). If it comes undone and can’t be re-wrapped, we’d definitely be looking at J-feeds if she continues to vomit her feeds.

All of that led into a conversation about her current state of feeding intolerance/diarrhea/near dehydration status, and the fact that in spite of him trying to find a hundred other causes for it, it does seem to be suspiciously related to her getting the vaccine last week. One vaccine. Given the history of being inpatient after the only other two times we’ve tried to vaccinate her, it seems very reasonable that the bottom line is that her body just cannot do two things at once – function properly AND fight off infections/vaccine titers. We knew some of her immune numbers were low from a previous admission where we tested them – but everyone had hoped at the time that it was just due to system immaturity and (say it with me now) Malnutrition (*insert evil organ music here – Dun dun Dunnnnnnn*). CLearly that’s not so much the case as she received this vaccine during one of the healthiest periods she’s ever had, and look where it got us. A week of craziness. The problem is that even though she is improving today, it’s still going to take at least another 24-48 hours to get her back up to full strength full speed feeds. And five short days later, we go for another vax. 

Dr. N said he would write a letter that kendall is absolutely not to have any more vaccinations till she can get in with Immunology to determine what is going on with her immune system. He also did a great job explaining that her food “allergies” that we are seeing aren’t so much true “allergies” as they are her body’s way of trying to fight ANY intruder – whether that’s baby pears or enterobacter organisms.

And lastly he emphasized that we need to get in with genetics/metabolics ASAP. I explained that I had been on the phone with them for about half an hour yesterday learning that they are essentially on a recommend-only basis for metabolic appointments, and that there is an almost year long wait for a general genetics appointment.  I mean, good lord, I hope your poor baby doesn’t die of whatever it is genetics is supposed to diagnose while you’re waiting a year for an appointment!!! Seriously. So he said he would make some calls. His feeling is that this is a mitochondrial disease of some kind – it’s the only thing that ties all of her symptoms together and that makes her whole non-sensical self make sense. I guess by this point I’ve heard it tossed around so much that it doesn’t have the same shock value that it used to.

To close out the appointment, we got walked through doing a tube change with the nurse – FUN TIMES! At least it wasn’t the emergency procedure of a few weeks ago with blood and guts pouring out the stoma! And now she has a nice shiny new (working!) tube in! No more leaky formula, no more wonky balloon that decides to randomly deflate, no more spinning extension!!! All in all – a pretty good appointment – especially when you consider it was supposed to be for surgical set-up and instead came out with a good prognosis for the immediate term!

We got home to a message on the machine from the genetics scheduler (who I spent the half hour on the phone with yesterday telling me we had a VERY long wait ahead of us) telling me that they had an opening on Tuesday afternoon and the doctors would like her in then. Neat. Guess our doc has friends in high places! So back up to the land where the river diverges we go. They supposedly have all our records and all the most recent bloodwork. Now to just find someone who can put all those pieces together. I have to put a call in to her neuro tomorrow to figure out where the muscle biopsy results are at currently, and see if there is any other info they can offer for genetics. At this point, I have no idea what to expect, but i can tell you my expectations are pretty low. I don’t have any disillusions that they will be able to pinpoint her with one 2 hour long appointment. I don’t think they’ll look at her paperwork and know instantly what we are dealing with. I really don’t even expect them to have anything helpful to her every day care to offer. But a little teeny part of me kind of hopes. I think you have to keep some hope.

So that’s that. We survived it! Couldn’t have done it without the prayers of so many of you. And now we push on toward the next step – Tuesday! But in between then and now – we have a fun four day weekend full of barbeques and last blasts! I hope you all have a great time! Enjoy the last blast of summer (hopefully the weather cooperates!)

terra