The Lowdown from the PGH.

(that’s gangsta for pittsburgh by the way. I have no idea why. I just made it so.)

So this post will be just the details of the appointment – or as best as I can recount the conversation without too much editorial comment. That will come later. Either later on in this post or in another post.

So our appointment was scheduled for 1 pm, but this morning the nurse called to change our appointment to 3 pm so that the doctor would have more time/all the time we wanted with her. I will refrain from the editorial comments here about what a mess this was, but let’s just say that when you are calling to leave a message for someone that has a somewhat urgent component to it, like say an out of state doctor appointment occurring within the next few hours, LEAVE YOUR NAME AND PHONE NUMBER. That is all.

It ended up working out well because a.) I would have hogged up that much time anyways, and b.) Kendall actually took a nap ( I know! in someplace NOT her room! Unheard of!!!).

In nothing short of a miracle, we found the hospital. This crazy city of one way streets and construction every other block – oh wait, I am reserving editorial comments for later. Anyways, we found it. Thank you Jesus for your guidance.

We were called back for our appointment right away after we registered (probably because it took me forever to park and get up to finding the clinic), and we didn’t even fill out the paperwork because Dr. G came right in (her name is Dr Goldstein, but i am just used to referring to her as Dr. G, so, there you go. ok that was the last editorial comment).

Dr. G came in with a stack of papers and file folders, welcomed us and said she felt like she already knew Kendall and was SO glad to meet her in person. I gotta tell ya, NOTHING warms the heart like hearing that from a doc! She had clearly done her homework on the paperwork I had sent over back in March. She had made notes on our lab tests, and had a few other pages of her own notes. She said she had a lot of questions for us, and I said that worked for me to start with hers and then go on to mine.

Each question she would ask would inevitably lead to one of my “issues” i had wanted to discuss, so we’d go back and forth in this manner going body system by body system. It was amazing to hear MY THOUGHTS echoed out of this doctor’s mouth. For instance, she said ” I noted in the paperwork that there is a lot of talk about IVIG, and that her immune testing is all relatively {not good} (I’ll get in trouble from my mom if i use the word she really said here), but WHY is she not on IVIG yet?”  I was dumbfounded. I have wondered this same thing myself many times! Not that we WANT Kendall to need IVIG infusions, but in the face of what we are up against with the active immunizations not working, and the fact that we deal with an average of a bacterial infection of some kind every 8 weeks or so, and that those TYPICALLY end up with kendall needing inpatient support, why isn’t more being done to support her?

There were about five or six instances where this kind of thing happened – we talked about the MRI results report not making anyone feel warm and fuzzy (my thoughts exactly), her possibly needing a cough assist device (again, discussed many times, never actually ordered), her possibly needing a port/access of some kind in the future (second verse, same as the first), and the fact that there is little testing to support our theories/treatment of Kendall’s gut function, because we all ASSUME/have good confidence that it’s just {not good}. Just about everything i have ever questioned/researched/been frustrated with in regards to Kendall and her issues, Dr G brought up and her thinking was just so right on with what I have always felt.

After about a half hour of this, she just kind of stopped and said “Clearly there is a LOT going on here, and I am just going to tell you, it is going to take a while to get to the bottom of all these assorted pieces with the different people involved in her care. Is there any way you can come back next Monday to be admitted and just let me do it all here inpatient?”

My mouth still hurts from where my jaw dropped open and hit the floor.

Her options were actually “Next Monday, or the week of Christmas, and I just don’t think she’s going to make it to Christmas without some good solid direction from the testing we need to have run.”

so we picked next week. * the reason those were the only two options are because those are the weeks that Dr. G is the attending neurologist on the floor. Any other week would be some different doctor, not familiar with Kendall, and with drastically different goals for outcome.*

Now if you have ever had the privilege of having a medically complex kid, you know EXACTLY what i mean by “getting things done inpatient”. As long as its not a holiday weekend, you will get done in about three days what would take about six months if you did it all “outpatient”. Getting to run testing inpatient means you get answers/results/help on a much accelerated timeline. (I know – not always, but in general, you get way more done, right???) so for HER to suggest this to me,  I knew she wasn’t fooling around with it. I told her I needed to run it by Ben, but that given what we have had to go through this past almost two years, we were pretty much ready to do whatever was needed to get Kendall the help/answers to live life to the fullest.

I called Ben and told him what was up, and he said “well, I guess it works out then that I am supposed to be in pittsburgh next week”. I could not believe it. now I don’t believe that everything is going to magically fall into place just because THIS happens to be one major coincidence. But – to my heart and mind – it was just one way of feeling reassured that we were doing the right thing.

Dr G started the paperwork for the admit right there and told me that while she had many more questions for us, we would definitely be going through all of them next week. She gave me her email address and a list of things I should try to get from the hospitals/her docs before we come and told me to send her any questions I still had so that we could finish getting a solid game plan in place.

And that was the end of the appointment.

It was just….

A breath of fresh air. A huge infusion of hope. Exactly what I NEEDED to hear.

sure I went in hoping we would get THE ANSWER – whatever that is. But that isn’t what I NEEDED. What I needed was to feel like I was being heard, that everything I have noticed or tracked or brought up to docs for the last 21 months wasn’t for nothing.

That i wasn’t crazy.

And i mean, the jury is still out on that last one in MANY ways – but today, I got confirmation that at least with regard to my baby, I am not crazy.

She is beautiful and she has bright blue eyes and she gets most of her nutrition through a tube in her intestines and she likes to make her heartrate do funny things at random times that scare the bejeezus out of me – and she has a metabolic condition that is causing every cell of her body to misfire.

SHE IS DOING GREAT – and we hope to keep her that way.

We do not know what to call her metabolic condition yet. Dr G had printed off page after page, chart after chart of the “metabolic cycle”, urea cycle disorders, Krebs cycle disorders, fumarate something or others – my head started spinning at the sheer volume of info she had compiled. The bottom line is this – what we DO KNOW right now is that the cycle that each cell has to go through in order to turn food and oxygen into energy is not happening correctly for Kendall. EVERYTHING in her testing points to this as a definite concrete thing.

If you picture the metabolic cycle as a figure 8, the bottom half of the cycle is what we’ll call “metabolic” and the top half of the 8 is “mitochondrial”. The bottom half is supposed to complete its little circle and then hand off its by-product to the top half, which creates “energy”. Energy to digest food, fight infection, receive messages from your ears and eyes, swallow food correctly, keep your brain functioning, keep your heart pumping, etc etc etc. Everything needs energy. Still with me?

For those of you who know kendall, you will see where we hit the crossroads. Many of those things don’t happen, or at least don’t happen properly, because there’s not enough energy.

so that right there is enough to say – yes, kendall has a mitochondrial metabolic disorder. Or a metabolic mitochondrial disorder.

The problem is – that’s not enough to actually HELP Kendall. If we can pinpoint WHERE the breakdown is occurring in that figure 8, we may be able to provide what her body is lacking, plug in a cog or a sprocket in the form of a supplement or a medicine that will help the process keep moving.

where we are running into problems is that we can’t pinpoint it just yet. Last fall when we thought she had the genetic defect for the MMA – methymalonic acidemia – we thought THAT was the missing cog. And sure enough – the b12 shots helped IMMENSELY.  But it turns out, kendall doesn’t “genetically” have that defect. That was just one part of the assembly line that had a kink. As we worked that kink out – it became apparent that there were more kinks.

As Dr G explained it to me today (and those of you who are way more knowledgeable in this than me, please correct me if i am mis-speaking here) – we may not ever be able to distinguish for Kendall if her “kink” is in the top half or the bottom half of that figure 8 cycle. They are both affecting the other. She may have a primary mito defect that is causing a lack of energy to the bottom half of the cycle, thereby not allowing the top half to ever function properly because, well, it doesn’t function properly. She may have a metabolic defect that prevents energy from getting to that top half so it doesn’t have enough energy to force the bottom half to do its job right. There are literally dozens of parts to the bottom half cycle alone, and Kendall’s testing points in at least one dozen of those directions!

So – that’s what we are going to attempt to narrow down next week.

We will also be having the sub-specialty parade in our room:

Pulmonology, Cardiology, Genetics, Endocrinology, Immunology, Opthalmology (i can’t spell that word tonite), Intestinal Care, GI, and of course Neurology (Dr. G) will all be coming in to give us “second opinions”, or at least opinions that are cohesive under the metabolic mitochondrial disorder genre. Right now, we have most of those people on our “team” already – but none of them are really working TOGETHER, with one big picture in mind. Dr. G has certain docs in each of these specialities who she knows KNOW her metabolic kiddos. They know that what might be normal, or abnormal, for a kid with any other issues might not be what works for a metabolic kid. They know that there are different threshholds for metabolic kids.

And they know how to make all of that work together for what is best for each child individually.

Now this doesn’t mean we are done with our docs back home. It just means that NOW we will have some direction for them all! I know that Kendall scares the whoopie out of the majority of them because, well, metabolic stuff is a scary thing to mess with, and because they just don’t know what to do with her. That is part of what is so amazing about Dr G – when I would describe part of what I see happening with Kendall, she could FINISH THE SENTENCE FOR ME. She got it. She got that if “x” was starting to happen, “y” would be the final result. I am still in shock and awe, sorry.

What we KNOW will be happening next week: Kendall will need good veinous access all week for certain tests that Dr G wants to run. I laughed out loud when she said that and told her that i hoped they could get it all in one shot because they would have an average of ten hours from the first IV placement til they needed a new one. And again – she said that didn’t surprise her given kendall’s history. So – we MAY end up going for a PICC placement first thing upon admitting. She will more than likely be on a Holter monitor for her heartrate stuff for a couple of days, and will more than likely end up with a video EEG – which is so many levels of fun to imagine that it will take its own post. You know kendall? my child with sensory issues who hates anyone touching her head or face? They will have to hook her up to about 20 leads all over her head, with sticky tape/glue stuff, and LEAVE THEM THERE for three days straight. I think I might rather be mauled by small woodland creatures….And then at the end of the week, once everyone else has evaluated her in her “regular” state, she will be put under GA for a sedated MRI and spinal tap, and possibly a few other procedures as may be recommended by the other team members. This may or may not include her PDA closure, a chest CT/bronchoscopy, GI testing, etc.

our insurance is going to hate us.

And there are about eightyfourthousand loose ends we still need to tie up.

For instance, do we bring the girls with us? It’s the week before school starts. I have countless other appointments next week that will need to be rescheduled. I have to WORK at some point. I need to bedazzle the girls’ backpacks. Dance tryouts are coming up. We have no idea if we can stay in the Ronald Mcdonald House yet, and no way can we afford a hotel for a week. Ben has to be at his work monday through wednesday nites which means that I have to leave Kendall alone in the hospital at nite so i can stay with the other girls at the RMH – IF we get in there.

Blah.

I can’t think of that – its going to make my head explode.

I have probably already made all of you all’s heads explode with all this info.

So that’s that. you got a little more than “just the facts”. I am still sorting out “how I feel” about it all. Mostly peace. It’s a super good feeling to feel like you are being HEARD. And that you aren’t crazy. And that maybe, just maybe, there’s hope on the horizon. I mean, there’s ALWAYS hope, but it is harder to see at some times than others.

Remember my favorite movie? Anyone, anyone?

Here’s part of why I love it – one of my favorite quotes:

“Hope is a good thing, Red, maybe the best of things. And no good thing ever dies.”

Full of hope tonite,

terra

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Comments

  1. As always Terra, you and your family are in my prayers. I’m just inspired by you and your strength and your sense of humor-the fact that you can still be witty and funny with all you deal with on a daily basis.
    But seriously…Shawshank Redemption is your favorite movie? I’m sorely disappointed that it isn’t Princess Bride! LOL

  2. Wow! Even though Kira and Kendall have different disorders, they’re so much alike in certain ways. They’re so complex! It takes an entire medical team to figure them out. When Kira has her inpatient stays at Children’s, that’s what they do. They check everything that they possible can while she’s there. Even when I mentioned she needed a hearing test to go back to school, they squeezed that in for us too.

    But I also know how hard it is to balance all of the other stuff going on. And we’re lucky that we live 10 miles away. So we can go home at night, but it’s still hard.

    I’m glad that you are able to go next week though! I know how hard it is to get into these places, especially when they’re cramming in all this testing at once. But it’s great that Dr. G. is really pushing you guys to get in there and get it all done at one time. I know that feeling when you finally meet a doctor that is actually validating all these things you’ve been feeling for so long!!!

  3. My face hurts after reading this post! I smiled a mile wide and cried, which got lotion in my eyes, so that really hurt. So happy for anwers to be coming soon! I can hear Tim Robbins saying your quote~he has a great voice! You always make me want to see Shawshank Redemption, one of my favorites also, I think I am going to ask for it for Christmas this year! Prayers for you all every night and an extra set next week. Guess you don’t have time for scrapping next week huh?

  4. Whew! I’m amazed you got through that in once piece. Praying like crazy that all the little pieces that you have to iron out for next week fall into place.

    HUGS!
    Sarah

  5. Sounds like a wonderful appointment actually. Love hardworking, honest, really smart people! Will pray for all the details, and that you can get into RMH. Love RMH! Not only is it a blessing for the housing, but it can be great emotional support!

    Praying for Gods Blessing for you all!!

  6. Oh Terra, I am soooo glad you are finally moving in the right direction & will get some guidance and all in one week! Amazing!! Thank God for your persistance, I don’t know how you do it. Prayers for all of you. Love, mimi

  7. Yes, I would call that a “God Wink” – Ben being there next week!! Since God worked that out I’m sure the rest of ;the stuff will fall into place!! Would love to help in any way possible just let me know. Praying always for you and Ben the 4 K’s and espcially the tiniest K. Love you all!!!

  8. T-crest – so wonderful to read this post. I can’t stand being in the dark and not having answers. To be in limbo for almost two years is unfathomable. So glad you are closer to getting answers and that the docs you’re working with now really understand and can help Miss Kendall. The girls pray for her every night. Praying the logistics of next week work out and that you have the mental and emotional stamina to walk this road with your precious baby. Sending love your way!

  9. Wow, Terra. Just wow! Praying, praying, praying for all of you next week. If there is even ONE (or more) thing I can do at the home fort, please let me know. I am considering kidnapping your laundry, but I can’t break into your house to do it. If you allow it, then I can come at the proper time to take it out without tying it up and leaving a ransom note…

    Seriously. Just tell me when to get it. Call me your Laundry Fairy.

  10. Praising God for forward motion. Praying for concrete answers, and even better, solutions that go with them.
    Please let us know how we can help you.

    Sending love and prayers your way.

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