The results are in...

“My sense is that if this is an immunological mediated disorder, it originates at the level of the TLR system or is closely related to this. As such, she has trouble sensing and dealing with danger signals that she encounters through her mucosal systems (GI and lungs)…”

“Now, how to make this less fantasy and more fact will be very challenging.”

Those two quotes came from Dr. Bleesing, the immunologist that we saw in Cinci, and were sent in a letter to Dr. Demain, Alana’s immunologist here, and myself. That’s what it boiled down to from their best guesses and from the tests that they ran. What they were telling us is that while Alana clearly has a disease or syndrome, it’s not one that they can diagnosis right now. “As medicine catches up with her then we can try again to come up with a diagnosis and treatment plan.” In the meantime, we’d have to just figure out how to treat each system and symptom when problems arise within or with them with what we could.
I try to remember that everything that we rule out is something that does make a difference; it’s something that we didn’t know beforehand even though it feels like it was for naught. What makes it that much harder is as we’ve taken this journey each thing ruled out moved us farther down the list of things that are known, things that generally have some type of protocol or treatment. Each time we knock one of them off the list it adds something stranger and more complex. What we ended up getting in the form of a diagnosis, and this was mainly for insurance paperwork, was:

1. Chronic Lung disease SECONDARY to immune dysregulation.
2. Interstitial lung disease syndrome.
3. (Already diagnosed) Eosinophilic gastroenteritis.

The thought was, from all of her doctors, that what is going on with her lungs, the fevers, the eye pain, the whole shebang is being caused by her immune system not knowing how to shut itself off. In layman’s terms-- her immune system does not catch colds or bugs any more than other children but what her immune system does with it is the problem. A cold that will cost Shaylin 3 days of misery with a cough and a day or so of fever will cause Alana’s immune system to think that’s it’s under attack 10 fold. It takes her 4-9 weeks to get over a cold but by that time her body has been so weakened that NOW she’s unable to fight off what’s going on inside her and we just keep going and going.

They did recommend things like not taking her out during the peak of flu season, keeping her away from stores around Christmas time when there are a lot of people out, being notified of outbreaks at Noelani and Shaylins schools and keeping her away from places like Chuckie Cheese always. Keeping her O2 at night and when needed would help her sleep better and maybe make it through illnesses faster. They did talk about doing some different drugs with her but we opted not to as some of the side effects presented as many problems as what was going to be eased.

I’d like to say that I was just content with what they told us, that this wasn’t so much an undiagnosed case but an unknown case, but of course I was not. There were certain things that they put into place for when she did get very sick again and those included using O2 regularly, having special labs drawn to measure the levels of things like interleukins and cytokynes, and putting her in the hospital when the fevers had reached the 3 day mark instead of the 10 day mark. All of these things where suppose to offer their own brand of relief so to speak and they did help to some degree, I just wanted more of a fix, more of a clear protocol to help her.

I just ended up making myself crazy, that I can tell you now. As the summer moved forward Alana was a lot sicker then she’d ever been before. The cough was so bad that she would barely be able to speak a sentence without having to pause and catch her breath. On top of that the fatigue that had been plaguing her was getting worse; she was requiring 2-3 naps a day and still seemed tired after that. By this point we are going into Dr. McArthur almost weekly trying to find something to help her. She was having so many ear infections, fevers, diarrhea, coughing fits, muscle pain, poor eating and drinking episodes, and was just miserable. Nothing ended up making this any better besides upping her O2 when the cough was very acute and doubling Motrin and Tylenol without missing a dose.

August rolls around and it’s to the point that we think she’s going to be admitted soon with how sick she’s been. One day she’d be bouncing around and playing but the next she’d be laying on the couch crying and not eating because something hurts or she’s coughing so badly when she moves that she has no energy. Nothing can make those days better and looking back on last summer it is so very apparent that she was in the best shape of 2008 when we were in Cincinnati for testing. No, it wasn’t being away from home as much as it was true to Alana’s course she had had 2 major flair ups a couple of months before we went there and then again so close to our trip that we were almost not able to make it there.

She does end up making it a bit longer then I’d anticipated though. It was one of those times that in hindsight, I should not have waited till she was as sick as she was to take her in. I did though and by October the inevitable came, she was admitted after 4 days of 103+ fever, weight loss of 6%, and being so lethargic that when they placed the IV she just let them. Don’t cry, just breathe.

I'm leaving on a jet plane...

So we make the flight to Cincinnati in May of 2008 and the whole flight went like a charm, we landed on time in Seattle, made our connection, and arrived ahead of schedule. HA-HA got you right! So we do leave on time, that much is correct but weeee here comes the fun.

Seattle is in the middle of a storm and it’s so foggy that we cannot land. We have to be diverted to Portland and we will be cutting it close to make our connection to Cinci and on top of that we have a big problem. Alana has to fly with O2 and O2 takes 24 hours to get together. Alaska Airlines won’t let us remove the tank that we are using to take it onto another flight to get back to Seattle to make our connection. We originally had a 40 minute layover in Seattle but it looks like we are going to miss that and we have to scramble to get another flight out of there as well as call the DME (durable medical equipment provider) in Cinci to let them know b/c they have a O2 concentrator waiting for Alana at the hotel that we have to physically be there to get. What ends up happening is that we meet a wonderful Alaska Airlines employee named Jared and he ends up being a godsend. He pushes us up the list of people trying to make it back to Seattle and he overrides the regular rules and lets us take the tank onto the new flight back to Seattle. Thank god for the small favors, they are the ones that make all the differences. Once we had that squared away we ended up having a 5 hour layover in Seattle and again, Jared has come through-we can hold onto the tank until our connection flight with Delta is ready to leave. Now we can let Alana take a much needed nap without worrying about her Sats or the nap causing her more exhaustion than not taking a nap due to working so hard to breathe. All and all we make it to Cinci in one piece and the DME was fine and understood that things happen in a kooky way sometime.

The next morning we are up and ready to go meet Dr. Young and her team of gurus. Talk about an experience! Getting there was fun to say the least (you’d think we’d have learned that after getting lost from the airport to the hotel for 1 hour in pitch black downtown Cinci!! Keep smiling, don’t cry…) but we make it and it was amazing. We love TCHAP dearly but after seeing what Cinci has I have no doubts why they are such an amazing hospital. Everything down to the floors are geared towards children and a regular day for them is like a record day for TCHAP but again, we’d rather have Alana here, at our home hospital then lost in the motions of a giant like Cinci. I am getting sidetracked again huh…

We make it to Alana’s first appointment of the week and Dr. Young is just how we’ve pictured her. She’s kind, loving, intelligent, and is listening. Our first appointment with her is just a touch base kinda one. We meet with her for about an hour before heading down to have a high resolution cat scan, HRCT, under general anesthesia, GA, because they do it a little different down there. What happens is under GA the can pretend that the child is holding their breath for x amount of time and they are super still. Hard to do with a 4 year old that is already having lung problems with regular breaths. The other reason is because they flip them over onto their stomachs so there is no compression on the lungs which could lead to fake reports of atelectasis. The HRCT goes great and we head back upstairs to have our real appointment with Dr. Young and go over the test results of the scan and some labs that had been drawn.

We do talk about everything that has and is going on and while we are up there the results of the scan make it and we go over them. It again ends up being one of those bittersweet moments that I’ve talked about in the past. The scan was relatively okay because Alana had such an acute flair up before we left Anchorage that she's in her "well phase" when we actually need her to be in her acute phase (say that 10 times fast). She had mild air trapping (abnormal retention of air in the lungs after expiration. The cause is obstruction such that the patient is unable to expel air completely), thickening of the lung walls, and bronchial damage. All in all an improvement from her last CT though. This of course makes things a bit more confusing. If she had NEHI (see last post) or LIP (again, last post) then those things would not have shown any improvement. Do you remember where I mentioned the kid and the labs and the labs and the kid not matching? This was one of those times; Dr. Young said that she was unsure how to proceed with the lung portion because she was expecting to tell us what she thought and that would be backed up by the HRCT staying the same or worsening. Now that didn’t happen so she has to re-think what would account for her lungs having a period of relative wellness; not normal lung but better then the last CT. She tells us she has to get more information from the other doctors that we are going to be seeing and when we have our finally conference we will have the game plan. That’s alright with us because we:
1. Don’t want Alana on any meds that are not needed.
2. We don’t want a diagnosis that is incorrect.

That ends that day and the following day goes by sorta the same, we meet GI who really doesn’t have much to offer us and that’s alright, we are happy with Dr. Demain who handles her EGE here but adds that he doesn’t think it’s EGE related. The next day we meet with Immunology who we do have high hopes for. There has been this underlying thought that Alana’s immune system is goofed up on such an innate level that it’s unable to be detected by the means that we’ve had available to us. Cinci has some ground breaking workups going on and getting her into their hands will be very helpful. Our immunology appointment ends up being a 6 hour adventure. Unfortunately it ends with no clear outcome. Dr. Bleesing thinks that there is a malfunction with her Toll-like receptors (if you are interested go here: http://en.wikipedia.org/wiki/Toll-like_receptor to read about them b/c they are complicated) because there are parts of her immune system that are activated at the same time that should not be and for no reason. We are promised a complete workup from the 13, yes 13 vials of blood that they draw but those won’t be in until we are home due to the complexity of them.

That night she had a full sleep study done and talk about weird. She hated every minute of it and I would have too. She was hooked up to heart monitors, a pulse ox, neurological leads, etc. it took over an hour to get every attachment on her but at least by that point she was so tired she went right to sleep. The sleep study didn’t show us anything new so that was okay to. She did great though from our stand point with all the leads and glue and aggravation. We did get a break that day and took her to the Cinci Zoo and it was nice to see her smile and be happy for at least once that week.

The week went on and we had our appointment with Rheumatology to get to, and again, nice doctor, just not a lot of ideas. He did test her for a disease called TRAPS but did tell us that he thought she had about a 10% of having it. Par for the course results would takes up to 8 weeks to come in.

The next big thing we had coming up was another bronchoscopy as well as a nasal cillia biopsy (to look for another lead, Primary Ciliary Dyskinesia) and this does have me more than a lot worried. Her last bronchoscopy was scary due to many reasons and again, it’s another procedure with GA which we are realizing that she has a problem with. It does end up going well though; she shows us why she is such an amazing, strong and brave little girl. She does take about 5 hours to wake up from GA and this starts to solidify that there is something with GA that is abnormal with her and GA but for now we are just happy that it’s done and she’s alright.

We go back to the hotel later that night and get some much needed sleep and prepare to go home. We can’t leave until she’s cleared which will be in a day or two so we can make sure she really did have a good procedure. In the meantime it’s back to the same ole’ game of waiting on labs and results, nothing new in that respect but there is something renewed…hope. Hope that this is going to be figured out and she is going to be alright in the end. We get that it might take some help along the way but that’s something we can deal with as long as it gets her better, it brings back more smiles instead of more tears.

She gets the clearance to go home a couple of days later and we do. It’s a long, long flight home because we opt for the straight shot but yea, that’s an 8 hour flight with a 4 year old. One thing I didn’t mention about the flight thing was that when we went through security at Ted Stevens we (as in all of 3 of us) were all patted down, swabbed, the whole 9 yards. We didn’t think anything of it because it happens, but when we checked into our flight home we noticed that the agent again marked all of our tickets. We asked why and he told us it was because we were flying with O2. Are you kidding me?!? Alana, our 4 year old was being patted down because she needed O2? Again we had to go through the special line at security and this time we had to go through the “puffer” that checks for explosives. Funny how times are that a 4 year old can really be considered a terrorist. Okay, yea, I am soap boxing again.

Long and short we make it home in one piece and start a long wait. Dr. Young assures us that as soon as all the labs are in she will call us to go over what the thoughts are, the game plan, the everything. We do trust her so we are again, okay with that. Home sweet home and speaking of sweet, I’ve so missed Noelani and Shaylin. They are two of the brightest lights in this dark tunnel.

Cincinnati

Time seems to fly by rather quickly for the next few months. It’s now February of 2008 and as is now par for the course Alana is rather sick again. In the meantime we’ve been working on getting a sleep study done to see if shes de-sating at night and if that’s what’s causing her to wake up at night at such random intervals. There isn’t a pediatric sleep center here so Dr. Young, who we are now working with, suggests that when we make the trip to Cincinnati we have it done there. That brings me to my next thought is that yes, we are planning a trip to Cincinnati Childrens to meet with a team of doctors. Dr. Young has spent countless hours with me on the phone, emailing us off and on for weeks with pages of questions about Alana. She’s contacted all of Alana’s doctors here and requested records and x-rays, and CTs. Dr. McArthur is just amazed at how involved Dr. Young has become to Alana’s care and how much she’s trying to help. For the first time in a really long time it feels like we may have an end in sight for the diagnostic phase.

By the time that April rolls around tho the news isn’t very good. Alana is so sick that we may have to wait on the trip. At this point we are planning on being in Cincinnati in May to meet with Dr. Young (Pulmonology), Dr. Bleesing (Immunology), Dr. Putnam (GI), Dr. Graham (Rheumatology), and Dr. Boesch (Pulmonology for another bronchoscopy). To have to reschedule all those appointments is going to be very hard. The suggestion is made that we go ahead and do a small sleep study at home using a monitor that will be provided by the local oxygen supplier and it will record her SATs while she’s sleeping. If she’s coughing so bad maybe we can get her on O2 and that will help her heal a bit so we can make the trip down there. We already know that sh'es gong to need O2 on the plane so trying to figure out that is such a pain in the ass.

We do the mini sleep study and wait to hear the results of it from the O2 Company. At the time there was a wonderful gal working there named Aurora and she was very good at keeping us updated with how things were moving along. As I waited for her to print out the results, the whole time with Alana coughing and gagging and looking like hammered crap I couldn’t help but think that there wasn’t going to be anything. It’s par for the course with Alana that her labs don’t match the kid and the kid doesn’t match the labs. What I mean by that is when doctors take a look at her CTs, labs, x-rays, history they picture this very frail and sickly looking child before they’ve even seen her. Then they see her and notice that she’s smiling, small for her age but otherwise the quintessential “She doesn’t look sick” child they start to overlook all those labs and tests that they were so concerned about. Anyway—So Aurora comes out and she looks unhappy. Great, it didn’t show anything was what I was thinking. I was so, so wrong. It showed in a 4 hour period she had de-sats down to 84% more than 20 times. The highest that she got up to was 96% and that wasn’t for very long, her baseline was close to 89% for most of the time she was hooked up to the machine. Aurora had the tech’s make sure there wasn’t a problem with the machine because it was so awful and then they told us that everything was in order and the machine was working properly.

So all in all it turns out there was something we were missing; Alana needed to be on O2 at night even when she wasn’t acute. It’s now only a few weeks away from her appointments in Cincinnati and things are starting to look up. She’s sleeping a bit better with the O2 on and she’s not even fighting putting on the canula (prong looking thing that delivers the O2 up her nose) and tells us that it makes her feel better when she has it on. WHOOO HOOOO something seems to be helping her. Dr. Young is staying in touch and letting us know how things are looking for appointments. She’s set us up with some of her colleagues whom she thinks will be best suited to help Alana. We are scheduled to have a high resolution CT scan (HRCT), many, many labs, sleep study, bronchoscopy, and anything else they deem needed while we are there. We are looking at a solid week there and the hope that finally we are going to have a diagnosis for Alana. Dr. Young has mentioned things like Neuroendocrine Hyperplasia of Infancy (NEHI), Lymphocytic interstitial pneumonia (LIP), Surfactant disorders, and anything else that she can think of that “fits” Alana. It is such a relief to feel like the end might be in sight! That while it sucks the fact that Alana has to deal with having 2 rare diseases, Eosinophilic Gastroenteritis (EGE) and now a probable interstitial lung disease on top of that, there is hope that for some of the lung diseases there are treatment plans that can be put into effect to help her. There is some light at the end of the tunnel and all we have to do is make it across the country, an 8 hour flight, to Cincinnati Childrens hospital to meet the person who’s going to help us and it can't come a moment to soon as things are changing with Alana, she's getting sicker faster then ever before and she's just getting very tired very fast. Here we come Dr. Young, hope you are ready for us.