And so here we are...

I know it's been a week since we've been home. I'd like to say we were able to sit back and relax but that has not been the case. I didn't update for the week for a couple reasons, was busy, busy, busy, had to speak with my family first about some findings, and wanted to meet with her PCP to discuss the results and where we go from here.


This will be long (I think) if I can get my brain to slow down long enough to put the words on paper, well in this case, screen. I am going to break this up into at least 2 posts over the next few days just because there is so much information to digest and weed through.

First on Alana as of this week. It started off relatively okay, she was tired as was expected but then by Wednesday she stopped eating and was barley drinking. She started sleeping, a lot. By Thursday she was down right lethargic and wasn't doing anything much more than crying or sleeping. She had about an hour of good right after a nap and eating a small snack but then was out for the rest of the day until around 5 o'clock. Spoke with Dr. Mc and it was agreed she needed to have labs done. Labs came back as OK but turns out her iron is low and her Ferritin is still low, which it usually is. Iron hasn't been a problem before though. Her Ferritin yes, it's been low for years for some reason, but her Iron is usually okay. We are going to have to figure out what to do about that but iron supplements can cause constipation so therefor another huge problem. This week doc is going to figure out how she wants to handle this one up. In the meantime Alana is eating again and having more moments of doing well so Im going take that as a good sign.


Now on to where we are at.


If you go look this up on the web it comes back with everything from "it's not a problem" to "it's a life altering debilitating problem". Where exactly it fits for Alana is questionable. I will be including some direct quotes from the Genetics doc to try and help make this easier to understand.


Alana as what's called Ehlers-Danlos Syndrome. This is a dominant genetic disorder and here is a small snippet from one of the sites:

"The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Occupational and physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage."

It appears that I am a carrier as my family has a lot of the overall symptoms and for myself I have 6 or so of the markers for diagnosis as well as Shaylin. There still is the question as to Larry if he is a carrier because the doctor raised the question of Alana getting a "double whammy" and hence her severe presentation. But this was the reason I held off posting about what this was because I needed to speak with my family in person because if I am a carrier then that means I got it from at least one of my parents ergo my brothers and sister have a chance of passing this onto their children to some degree. 

"Sometimes we get kids in here nobody can really figure out because they have a little bit of this disorder but then they look a little bit like this disorder but it turns out the reason they look like they have this and that is because they have both disorders..."

I'd like to say that the Mitochondrial disease is off the table but it is not, in fact we've been told to "continue to treat her as such" and in fact they are putting her back on the mito cocktail. That above was the answer given for those questions. Neurology told us that they do not give that diagnosis which is both a godsend (??) and a huge frustration. BUT it is easier now that we do have a solid diagnosis now with the EDS. I will be working my way down system by system now to try and help make sense of this. 

Going all the way back to the start of all this, of Alana. 

"We notice that certain things like an inflammatory stressors seem to effect our patients so its not uncommon for us to have a kid who was quite normal, and maybe made it up through their teems without having any difficulties, get hit with Mono and now all a sudden they fall apart and they stay that way..."

By the time Alana was 2 she had tested positive for Mono. I've always held onto that, and they've checked many, many times the antibodies to this for her and she has them (meaning she's already had Mono). This statement was made before the labs they did showing she had had mono came back. 

This is the stack of labs that were done while we were there, most have 4-5 different labs on each sheet. 

I am going to call it a night for now. The next part is going to cover lungs and why she needs fluids. There will be even a car reference to go with it that made it easier for TJ to understand why Alana's "sensor" that should tell her to drink doesn't. 

Alana and her new puppy, Atka (which means guardian spirit in Inuit, seemed fitting)

Coming to an end...

While th is trip is now coming to an end in a lot of ways we are just starting. There's so much information to process and so many new things to learn. 

This is what the last set of testing was showing. What it means escapes me at this point and apparently it's going to take a few weeks until we know. This went on for 7 hours almost and the doctor has to look over every section of it and find the patterns within it as well as the randomness of it. 

I do know that she was miserable. That she was sore, tired, upset, scared, and done. Done in a big way to the point that she had stopped talking or even smiling at all. A nurse would come in and she would curl up against us burying her face and holding on tight refusing to acknowledge them hence the reason I canceled the sleep study. She has done amazing through all of this and she had been holding her spirits high up until this point so it just had to be the end of the testing phase. 

All those little tubes were inside her body, the upper probes were 18" inside her as well as the lowers. TJ and I decided the next fellow that came in and said "it doesn't hurt them" should have to undergo it themselves. 

I the coming weeks I'll be posting more as well. There's a lot that we've learned but I need to have some time to digest it all and find a more elequant way to describe how it ties into her as it's been told to us. We have a diagnosis though, solid ground to stand on now after all these years. There are still unanswered questions and she still (unfortunately) the "possible mitochondrial" component as well as some outstanding tests that are not in yet but we have a primary problem now. It makes my head swim and after spending another 2 hours with genetics and another hour with immunology I can't quiet figure out if I understand more or less. 

Thank you before I forget for all the cards and balloons and (City girls) for the stuffed puppy! She read every single one and loved them all. THANK YOU!

All and all it's done and we get to come home. They want to see her back in 6-8 months and there is an intensive PT program they would like us to consider that is this summer that runs for 2 weeks. Will have to think about that one but the great thing about it is it would be with girls her age dealing with the same things. We saw OT today as well and now have a plethora of information to bring home to those respective therapies to help her move forward hopefully instead of staying stagent.  

Today we went to the museum and she did well for the most part. She was able to sit back and relax and loved seeing all the exhibits. They not only know how to do a children's hospital here but a children's museum as well. 

I'm tired and I find myself running out of steam a lot faster lately. I know that the stress on her has been tremendous in every aspect and I know that the stress on TJ and I has been large as well. I can just hope that this month will now bring us a sense of normalcy and our regular chaos. Sunday morning we fly home and that ended up being a good thing as Alana's labs are coming back slightly unfavorable today and we are hoping the elevated WBC etc. is just a fluke moment and not something suddenly brewing. 

I leave you with the final photos of the day. 

And finally, with great love and gratitude to each and every one of you who has taken the time to let her know how much she is loved thank you, thank you so very much. 

 

 

Hotel

We are at the hotel now. I'll do a more detailed description of the day tomorrow but basically I called it and canceled the sleep study for tonight.  I'll explain more tomorrow but it boiled down to her physical and mental state.

Phase 1

Yesterday, last night, and today were incredibly hard on Alana. She hasn't eaten since Monday night and she's been full NPO since this morning. She has another 15+ hours to go before she gets anything and that's done in a precisely measured and controlled environment for 20 minuets tomorrow mid-morning. 

I didn't get a chance to update when she came out of surgery. She ended up needing to remain intubated for a bit longer than usual and then she woke up extremely upset and combative. She screamed and cried and mumbled for almost 3 hours before she calmed down enough to even remotely relax. Right now she's very uncomfortable and very quiet. She is only talking when she really needs something and currently is telling us that she feels very weak and her body hurts everywhere. 

Tomorrow morning this master computer they are talking about will be brought in and all the probes will be attached to it until about 2-3 o'clock in the afternoon. Unfortunately we won't get the results from this for another week but there's nothing we can do about that in the end. 

This by far is one of the worst testing procedures she's had done. She's had surgeries, chest tubes, etc. etc. but this is terrible. She has a tube the size of a straw coming out her belly in addition to another tube (the probe) that's running along side that. This tube (probe) is all the way down her intestines and the other tube is draining all her stomach fluids out. The second tube, the other probe, is coming from her bottom and is all the way up the entire colon. This is tapped to her leg and she isn't allowed to be at more than a 35 degree angle, be on her side, eat, drink, or even go to the restroom. Her whole body hurts and she is miserable. She's off all her meds due to this testing so all her nerves are firing on all cylinders. Tomorrow morning they will be hooking her up and then my understanding is these little probes will stimulate (i.e. cause her pain) her GI system in addition to an enema cocktail while they watch the equivalent of an internal EKG wave pattern. The reason it takes so long to get results is the doctor has to read over page after page of these waves and see if they are all how they are suppose to be. If not what's not right about them and if so then what can we do to improve her treatment plan. 

Thanks for all the thoughts wishes and prayers. We let her know about every single one.   

Waiting

This isn't going to be a long one. We are all very tired and Alana is bouncing between being upset and mad and being quiet. This morning after she was admitted we found out some steps to tomorrow's procedure that we were unaware of therefor unable to prepare her for. In addition the steps are invasive and some of the things she is most afraid of. She can handle labs, she can handle going into the OR wide awake and keep a brave face but these things instantly cause tears and frustration. It's going to be an extremely long night and day tomorrow, more so than we originally thought. She goes to the OR at 1 tomorrow god willing everything goes well tonight and tomorrow morning. I'll update more when I know more. Thanks immensely for all the extra love sent her way from everyone who's taken the time to do so. 

Neurology and Rheumatology

So going backwards a couple days here. Neurology was, well neurology. If you've ever been to one you know what I mean. They can be very vague at best. They are keeping her in the "probable mitochondrial" category. What this means is they want us to continue to treat her as such and use all the precautions and get her back on the vitamin cocktail. This should overall help her energy and possibly help her as a whole. We had done it short term before but it's complicated, it's rather expensive (2k a month) and insurance does not cover it. When we get home I'm going to try and look into grants to help cover it. Most of neurology was spent going over management and how to help what she has going on. 

Today was a meeting with a special PT that then referred us to a special OT that has now been added onto Fridays schedule. After learning a lot of information we met with the rheumatologist and she was great, even after we spent 5 hours there. She went over a lot of stuff including her thoughts with management and how to improve that. She did say that she's going to meet up with us Thursday and give us a better idea of her complete thoughts. She was with us that we need everyone's 2cents in this and then come up with a unified plan of attack to help her manage, prevent, and improve her quality of life. We need someone to take the lead but we are still trying to weed out who that is going to be. Gentics wants immunology and immunology wants Gentics etc. it needs to be someone though but GI, genetics, and immunology need to be in the lead and working together in my opinion. There's now so many solid players on the board that I'd be hard pressed to pick just one. 

I know lately I haven't been giving in depth details but that's temporary. We have learned a lot but I need to get as much information as possible together before I can figure out how to explain it properly and how it's going to change things and make things different for her and us. We do have one solid diagnosis (new), her orbital ones (dysautonomia, lung disease, etc.), her "working" diagnosis of mitochondrial dysfunction, and now 2 more that they are actively saying are problems but they need to wait for these last test results to come in. 

It frustrates me to no end to think about how many doctors we've seen who've never picked up on things. I know when I spoke with Dr. Mc about it the day we found out down here (have I mentioned I adore her! She is on vacation but gave her personal cell so if something exciting came up we could call right away and let her know) that she was flabbergasted. There was the "what!" and "why didn't I look at that!" but to me this isn't her area. This is truly a specialist area and one of these other yahoos from Seattle shoulda seen this. I know I'm on a bit of a tangent and I apologize, sorta. 

Bouncing ahead, tomorrow starts the longest and toughest part of our journey here. She will be admitted in the a.m. for a massive clean out. She will not be allowed to eat or drink anything after midnight tonight and will only be receiving fluids through her CVL. On Wednesday she will be taking to the OR and endoscopy, colonoscopy, and the probes placed and hooked to the computers. From there she cannot get out of bed at all. For anything and she still cannot eat or drink. On Thursday mid day she will be allowed to eat for 30 minuets while they watch on the monitors what her stomach and guts do. After that the probes will be removed and then she will transfer over to have another sleep study done which will conclude Friday morning. After that is the OT appointment and then with any luck, we will be allowed to leave campus without having to return until next time. 

All in all she has handled this amazingly well. I wish I could take credit for all this but I can't. This has truly been a team effort and I mean from everyone. Family, friends, crossovers (like Tom & Gez who are both family and worker bees for Alana, Tamara, etc) and everyone who holds her, Shaylin, and Noelani near and dear snd makes sure that they know it. Every prayer, thought, kind word, and unconditional love that is cast upon them matters more than I could ever express. Thank you, thank. You so very much. 

(Yes this was just his dinner and the plate is bigger then him) 

Pregaming

We have our appointment in 30 minutes so we have had the morning to take her out. We went to the butterfly exhibit.  Off to PT then rheumatology.  

The weekend...

I know I didn't post about the last appointment on Friday with Neurology but we can get to that tomorrow when I update about Mondays appointments. 

Yesterday we went to Ft. Knox and visited TJs sister and her family for a bit. It was so good for Alana to be able to 1: Sleep for that long and 2: play with kids in a home setting. She was able to play dolls and knex and just be free for a little bit. It was a fun road trip. 

It was so warm out I actually got sunburnt on my shoulders! Gotta love 84 degree weather. I am very grateful for the opportunity to get away from the hotel and hospital and be in a normal environment. 

Was actually able to sleep in a little bit (okay until 7am) and after breakfast headed to the zoo.  It was another beautiful day, reaching in the 80s, and I think that contributed to Alana being a bit more cranky and tired than she was the day before. By the time we did the giraffes, which we did first, she was done and just laying back in her chair for the most part. But what is important is she got to feed the giraffes, she was first in line and so the giraffes were very reseptive to food. 

She did have fun when we got to the monkey exhibit though. There was a little guy who would follow her no matter what side of the exhibit she was at. She'd touch the glass and he would. When she'd pull away he'd use a little jug and beat on the glass. 

After that she was ready to go. We wandered around a bit and got some lunch, FYI, a large lemonade at the zoo is $6. Just in a case you were wondering....

The rest of the day was spent at the hotel, she was resting and TJ had paperwork to catch up on so it was nice and quiet and low key. Tomorrow starts another very long week with the largest of the admits happening. She will be admitted Tuesday and isn't released until Friday. There are more labs tomorrow as well as the 2 appointments. We have opted to do some of the testing at home so we can come home. When we have the ability to do them there that's where I want to do them. These tests won't change the course of treatment as they are more damage control type testing but they do need to be done, another MRI and a MRS. The labs though do need to be done here so that's tomorrow. Till then. 

 

So very tired...

I had tried to prepare TJ for what trips like this do to you. How you think you know what "tired" is. How you think you know what a bad day is or even a bad week. 13 hours a day at a hospital will make sure you do. 

When you have a loved one, spouse or child in particular, that's going through an extended  illness it changes you. It both weakens and strengthens you all at he same time. Your body goes through the phases of pure unadulterated exhaustion and restlessness. After that your already stretched mind starts to become even more fragile, more frail. A lot is expected of you to continue to "keep your head up" and keep moving forward. Of course being a good caregiver you do, you hide from everyone the inner demons your struggling to cope with and face because it means your complaining or worse, weak. Are you? No of course not and it is okay to vent, cry, rage, flat out be a bitch. Just don't do it more than once. And just don't do it often. Fatigue does funny things to people. Years and years of medically induced fatigue changes you in ways that unless you've spent nights listening to machines, waiting for them to lull you to sleep but scared to fall asleep because you might miss an alarm, a break in a line, a low oxygen warning it's not something I can begin to eloquently describe that would make sense. 

TJ has been amazing. He's been patient and kind and gentle with not only Alana, but me. 

Alana is resting finally. It was a very long day and she was even more upset and clingy than usual which prevented me from doing many (any) updates. We opted to leave the hospital tonight and arrived at the hotel shortly after 8pm (4 hour time difference from home). She's upset, in quiet a bit of pain, clingy, ad overall uncomfortable. Her breathing stabilized and her resting heart rate finally dropped closer to the high 120s. Once that happened she wanted to eat so she had cream of wheat and hot tea which helped her disposition. Right now she is resting via some medication and I'll be getting up every 3 hours to check vitals unless I need to sooner. 

She's done so well. So incredibly well with all of this. Not even I can fathom amount of pain, frustration, confusion, and worry she must have bouncing aroun in that beautiful little head of here. 

Tonight's post is a jumbled mess but I am okay with that. I'm tired. No new results or anything today aside from what I mentioned earlier. Tomorrow is rheumatology and possibly more labs. 

Recovery

She's sleeping well and relaxing. They've given her as much pain medication as they can and she's finally able to sleep without crying. 

OR version 1

She's under now. Well she should be. Alana has to go under with MH precautions so that means I have to leave her before they put her under. I'm tying to hold onto the hope I am more traumatized by this then she is but by tht tears and looks from her I am struggling to make that true in my head. 

Surgery time is slated for 3 hours. There will be 4 physicians doing their part on her this morning. 

Cuddles...

Today was what we would call an completely unproductive day. Yes we got things done but in the time that it took them to get those things done cost us the one thing on the top of her list, the Zoo. We were suppose to have 1 appointment today so she'd have a break before surgery tomorrow morning but that didn't happen. After the CT scan we had our appointment with anesthesia to go over her complications. Alana has to use Malignant hyperthermia precautions due to whatever is going on with her. We've been using them for about 4 years now and it has helped her dramatically with every aspect of surgery. Anyway, this lead to her line and the dreaded crack that's been in it. After the ANP saw it she called the CVC team to take a look at it. They then asked us to call when she was having her labs done and they'd evaluated it. This appointment was scheduled for 1. 

After that she had the pulmonary exercise test done. This is done by hooking her to an EKG, blood pressure cuff, pulse ox on her forehead and then the best part, a face mask that measures the make-up of every breath she takes. Did I mention this is all done on a treadmill as it inclines every 20-30 seconds? Yeah about that...

To say she was unhappy and uncooperative would be putting it mild. She's allowed these moments of course, I just wish she'd do them at appointments when it really doesn't matter. Not in one where they need her to talk and point at a pain chart for her own good. Eventually she was willing to at least work on her pain chart and draw where her pain was and type to communicate. It's a small step and Ill take it. 

After that we were able to have some lunch (first time all week we've had lunch anywhere close to lunch time) and then we were off to the next appointment. After check in at 12.45 we sat in our pretty little room 7. We waited. We watched Chicken Little...all the way through. The Zoo was quickly disappearing and she was becoming increasingly upset and frustrated. Eventually the CVC team came in and looked at her line and decided repairing it was the best option. They they explained that they'd be setting up a mini OR in the room and showed us how it would work. There's another section of the line that has a metal connector in it. This part would be inserted into a clipped section of her old line. It would be glued using a special surgical glue and a clear tube would be placed over that as well and glued. Sounded rather straight forward. They then tell us that the line cannot be used at all for the next 5 hours. Well lets see...where are the nurses we've been waiting on to draw this huge lab list?

After they finally come in and announce the amount of labs they are taking there is a double take from both the CVC nurses. Did they just say 74 mL's? Are you sure? The average amount for a lab draw is 2 mL's. Needless to say that is how much they needed. 

After that was done they went ahead and started the line repair. Now it's repaired, is it pretty or what I would call a great? No. The splice isn't clean and there's now a metal coupler that is showing. Im told this is okay, that it should last anywhere from a few months to a year. 

Tomorrow morning at 7:30 am she will be taken back to the OR for the first round. This will be sinuses, ENT scope (looking at the voice box and surrounding area), bronchoscope with biopsies, and the bone marrow biopsy. Here's to another day and another day closer to what they think they know.