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” –
- Pulmonology (for lung/respiratory issues)
- Neurology (x2 – LG docs when inpatient, and outpatient at Rush)
- Nephrology (for her enlarged kidneys/weird urination issues)
- Cardiology (monitoring her heart defects)
- GI – Gastroenterology – self explanatory!
- Surgeons – continued G-tube site care, other issues as needed
- Audiology – tracking her hearing concerns
- Genetics – trying to find the one main disease cause
- Immunology – addressing food allergy/vaccine intolerance issues
- 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!