Seattle--again...

After all the ups and downs there is still things that have to be done and that includes the next big test she has to have. Every 6 months to a year Alana has to have an ECHO and EKG done to look at her heart. This is for a couple of reasons but the most important one is to look for pulmonary hypertension. When children, or anyone for that matter, is on O2 it is something that you need to keep an eye on and she in no different. I really like her heart doctor. He’s told me on more than one occasion I am Alana’s advocate, that if we are not making headway with someone to move on or make more noise until we do make some headway.

It’s nice when I can report great news here and so after having her ECHO and EKG the doctor told me the results right there, her heart looks great! Whooo HOOO! There’s no evidence of PH and everything else looks good. She’s still has her murmur and we are told to keep a close eye on the episodes of tachy and bradycardia that she’s having and if things get any worse or we notice fainting spells or other to bring her back right away. Otherwise we are good for 6-12 months. It’s so nice to have an appointment go smoothly and to leave with no thoughts of bad news to share. This was just last month so guess what?! We are here now, the present; crazy huh?

I’ve now been kicked back in my chair for awhile trying to think of where to start…she’s still having bad days, a lot of them in fact. To summarize this month in regards to her and her illness it’s been slow going. She’s been having fevers closer together and had a good set this weekend. As well as that she’s been really struggling with PT to the point that she was over 2 ltrs of O2 and still struggling to breath. I sit at poolside and watch her try with all her might to swim with help from a float or other and she cannot do it. Her feet and her hands no longer work in coordination with her mind. It makes me cry at night.

She went into McDr (yes, we are now calling her McDr, Dr. McArthur, according to Alana) today to see if she has developed pneumonia again because she’s coughing way more then she was even 5 days ago, she’s running fevers, she’s pale, and she’s needing O2 at higher flow rates. The good news is, that just from looking at the x-ray and not having the radiologist report yet, it looks OK. There are still infiltrates in her left lobe but they are always shifting and there. Tomorrow we should have the full report and will make the decision to start antibiotics.

We did talk about her increased lack of coordination, the fact that it’s been months now since the cough started again and then the biggie that she’s not gaining weight again. And in again I mean in the past 2 years. She still has not gained back the weight that she lost in October and December and in the words of the dietitian, her growth is “stagnant” all the way around. We’ve heard mention, from some of her other doctors that a NG or G-tube might be in her future but I’ve been resistant to think about it. I don’t know how long that can keep happening though. I was looking through photos of her way back in Craig when she was 3 and she has on this jacket that my mom made, well this weekend she was wearing that same jacket and it was still a bit big on her. *sigh* McDr said today that we might have to talk about this soon, like in a few weeks. If we do an NG tube and she gains weight then she will have to have a permanent g-tube placed to help her in the long run. Not something I want to think about right now.

McDr also mentions “progressive” again. I did it, I couldn’t help it; I started to cry. Please someone explain to me why I can’t seem to hear that word and not get upset?! I get it though, her increased loss of coordination, her increased O2, her increase in autonomic issues, her increased motility issues, the fatigue, the fevers being closer together, they all scream progression. Don’t cry just breath, right?

Another thing that I haven’t mentioned is that next week we leave for Seattle Childrens again. If you recall the last update I mentioned this and it’s now that time. Her appointments start on the 10th and we have no idea how long they will last. We are meeting with this guru on mitochondrial and other metabolic diseases and she will be having another surgery, this time a thigh muscle biopsy. No word on what day that is going to happen as we are meeting with the surgeon and the GA clinic on Thursday to see what they think about her going through another surgery. It will be while we are down there (don’t get me started on Seattle Childrens again!) is all we’ve been told.

So as usual we have a lot going on around here. Its summer break and the other 2 chicky-poos are home and I love having them around to myself during the days and taking them places with me. They are all giggling upstairs right now and its music to my ears! They are supposed to be folding their laundry but I think I will let it slide that they are not and in its place they are playing with each other.

Now that we are in the now, the present, the moment I will be doing the updates as they happen. The laptop is coming with me to Seattle so that will make things easy to keep current, also, here’s another link that I will be using while we are having “issues” or in-patient stays:

http://www.caringbridge.org/visit/alanastephens

On that page you can sign up for automatic updates whenever I post something. I will still always be on here, but it’s nice to have automatic updates when we are going through something big with her.

Seattle Genetics

After confirmation of Alana’s new issues (low muscle tone, RR & HR issues, de-SATs, etc.) the referral to Genetics was pretty easy so on March 25th we met with Dr. Wallace from Seattle Childrens Genetics department here at the Alaska Clinic. Dr. Wallace was very nice, and seemed genuinely interested in Alana’s health and background. She did come in with a short list of things she felt Alana might have, Hyper IGD, Muckle-Wells, TRAPS, Mitochondrial disorder, and a few others. I was able to knock off a couple right away due to gene testing but a couple still remained, Muckle-Wells & Mitochondrial disease.

During the physical examination portion of the visit she pointed out things with Alana that we never really noticed, for instance, her eyes are a different shape then all of ours, her hair is sparser and coarser as well. She has a single palmar line on her hand (simian crease) were as no one else, all the way up to grandparents & aunties and uncles, do not, and a few other physical features. Then there were things confirmed that we did know, her hands and feet can be burning hot and red while her core is 96 degrees. She has rash “spots” on her body, almost eczema like in nature but do not respond to meds, she has mild over lapping toes and the list continues.

One thing that we were grateful for was that she noticed Alana’s teeth. They’ve been a concern of ours for awhile now as they are chipping away from the bottom up and pitted. The dentist keeps a close eye on her in regards to this, the technical term is Hypoplasia enamel and it’s just what it sounds like, low to no enamel on her teeth. The doctor thinks that this may be a clue as to what’s been going on with Alana all along but until more tests are done there’s no way to know for sure.

What ends up happening are 2 things, 1: Alana does a couple of special urinalysis’s to look at Muckle-Wells and Mitochondrial disorders. 2: If the testing for Muckle-Wells comes back negative then we will have a referral to see a mitochondrial specialist in Seattle and look down that alley. Here is some brief information on both diseases so you can see what we were looking at:

Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

Either way you shake it they were scary things to look at. After waiting a few weeks the urinalysis came back and they were normal. Go figure. That did mean that we needed to start the next step, meeting with the doctor in Seattle about the mitochondrial disease.

While that is in the works things just keep on keeping on. Alana is working on another flare up and we are trying to keep her comfortable and most of all, out of the hospital. Her cough is increasing again, and the fevers are coming much faster and closer than they have in the past. She’s sleeping for 4-5 hours after PT and OT isn’t much better. She’s on 1.5 liters of O2 to function enough to do PT and OT but she’s still having incredible amounts of fatigue, not eating well nor drinking, mumbling and not making sense when she’s talking, de-SATing for no reason, chest rattles, rashes, red, angry spots on her tongue, and motility issues that are causing her a lot of pain.

Things stay this way and weeks go by with no change. Finally I bring her into the ped’s office and it’s just that, it’s just Alana unfortunately. The great news is that she’s able to stay out of the hospital and we just keep an eye on her. This works out well because she has an ECHO and EKG coming up as well as her patch testing for her allergies. Oh yippee right!

First is her allergy testing and this always makes me nervous. At the appointment I mention the bowel problems and pain she is having so Dr. Demain believes that we need to repeat the whole 21 food panel on her to make sure she’s not responding to wheat, milk, or soy which are known conspirators. This makes me even more nervous…what if she tests positive to those as well as the foods she’s already off; beef, chicken, pork, turkey, corn, carrots, rice, oats, eggs.

The patches go on Monday, off on Wednesday, and then final read on Thursday. No PT this week because they cannot get wet so yes, that also means no shower or bath for this water baby. By Monday night it was apparent that her back was itching and hurting. Argh.

Long story short the final read was typical Alana. Untypical. Dr. Demain could only think of 1 other child that he’d ever tested that was somewhat similar to what was going on. Great news, we tested negative to some foods. Bad news, she tested positive to some new foods. Here was the new list: beef, pork, wheat, soy, barley, rye, oat, & peas. Starting in 1 month we could pick one of these foods to try and reintroduce; rice, corn, eggs, chicken, turkey, & carrots. We could do one food, teaspoon a week over 3 weeks, and watch to see how she responds. *sigh*



You literally win some, you lose some. Up next; ECHO & EKG.

Our Christmas angel...

So yep, she had pneumonia again for sure. Her CRP was elevated, she had an infiltrate in her right lung and she was miserable to boot. Needless to say we did not get to do the EGE testing that time; instead we went on home with ‘scrips for steroids, antibiotics, and orders to check back in with Dr. McArthur the next day or sooner if she got worse overnight. We did end up taking her in the next day to see the doctor and as expected there was the “do we admit her or not” issue to be dealt with.

I know I said that I’d just say go ahead and let’s admit but it just isn’t that easy. There is a fine line that I feel I can walk with Alana in regards to when to admit. At that point I felt that if she could just get some fluids in that she’d feel better, ergo, be able to stay home longer. For the time being the doc agreed and what we settled on was doing an IV in the office. It wasn’t going to be a magic fix by any means but it might allow her the strength that she needs to make it through this. While they are getting things ready Dr. Tapple, whom she’s seen many times when Dr. McArthur isn’t around and admitted Alana for her October stint, sees that we are there again. He inquires as to why, is told, asks if she’s going to be admitted again and shakes his head. I think that the Alana frustration is rubbing off on him as well…

Once the line is placed she promptly falls sound asleep and we just wait for the bag to run through her. It’s amazing how much it can hurt to watch her have a line placed even though you know that she desperately needs it there. I’ve seen her have so many placed I couldn’t tell you a number, I can tell you it still hurts me; not as much as it hurts her, but in a very different way. Over time the line seems to be working and she’s sleeping a bit better and has some color to her cheeks. This is all great news at this point as it means that there is hope that we can go home!! It’s right around Christmas time and she really wants to be the angel in the play at school and I really want her to be that angel.

It does end up working out and she is allowed to go home on tight orders. If she gets worse, doesn’t eat or drink in ‘x’ amount of time, or has an even harder time breathing then we have to return, not only return but return with the knowledge that she will be admitted straight away. I can handle that and I do think that she is OK enough to be at home for the moment.

The play rolls around and she’s WONDERFUL! Thank goodness for such an amazing teacher (Mrs. C) who just takes Alana in stride; she knows when to push her, how much to push her, and when to just offer her a hug without any pushing involved! I am so very blessed with some of the people that are in Alana’s life. She does her lines wonderfully and is in great spirits for the duration of the play. Lucky for us it’s not very long and she’s able to make it through without coughing to bad.
We go back the next day for another check-in and there’s been no real change in Alana. We are given the go ahead to head down to Cooper Landing to spend Christmas with everyone again, conditional; she gets no worse, the hospital in Soldotna is within a short driving distance, and nothing new pops up. This is all doable in my book so off we go to grandma’s house.

Christmas was as well as could be expected. She did have problems with eating and drinking like I’d anticipated but not to the point of dehydration. She did lose more weight, a total of 12% of her body when it was all said and done, but she enjoyed Christmas at home, with her family…not in the hospital like the previous year. It took almost 3 and a half weeks for the pneumonia to finally clear up and things never went back to the ‘old’ way again. Her baseline had officially changed, not for the better.

There are things that I don’t remember to mention in here until I am at a point like I am now. These are the little things that no one can put their finger on but are like pink elephants starting to fill up a room. Alana has had new things going on that I’ve been, for lack of a better word, ignoring. I know that sounds ignorant, foolhardy, neglectful, you name it I’ve thought it. I wasn’t ignoring them because I thought that they were not worthy to be followed, I was ignoring them because I was worried that they needed to be followed. Of course this didn’t last long at all. As Goldfinger so put it, “the first time is happenstance, the second time is coincidence, and the third time is enemy action”. None of this was really going un-noticed by me; I just didn’t know what to make of it was the problem. Here’s a partial list of what I was noticing:

Extreme redness on her face
Hot ears
Hot and red hands and soles of her feet
Raw, painful patches on her tongue
Increase work in breathing
Decrease in her SATs even with the increase in work
A lot of rashes
Sleeping 2-3 hours a day
Increase in her heart rate as well as dips in her heart rate that last longer than they should

I didn’t know what to make of those things or even what to do about them so how the heck was I going to take care of them!? I did take heart that I was not the only one noticing them, Dr. McArthur noticed them as well and agreed that this indeed seem like a new baseline even though it was lower than her crappy baseline to begin with!

Things pretty much continue in that same manner for the next few months. Alana sleeps even more than usual, she is coughing more, she’s running fevers tighter together, not gaining back the weight that she lost in October and December, having frequent rashes and tongue issues, etc., etc. Amongst all those concerns I notice that she’s just really struggling to do daily activities that she used to be able to do, swimming for instance. Granted she still had some issues with them but she still was able to pull them off. Now she can’t even do that and it frightens me to see her literally and figuratively, sink. We are now in February of 2009 and there are changes on the horizon that shake up a lot of things.

The new way of things...

By now I feel like I should be used to this; the unknown of all of it and what it will bring this round. I am not though, nothing seems to make it easier or better or even okay. The same labs are run, the same doctors are contacted, and the same things happen. She holds onto the fever for 11 days and as soon as the fever starts getting better the cough picks up and holds on tight.

There are a few new things that have been creeping up on Alana lately though and here’s something that I feel holds true about her when it comes to new “things”: 1st time a fluke, 2nd time happenstance, 3rd time our enemy. She is now doing something that fits into that last category…she’s having periods of bradycardia (abnormally slow heart rate). Her sleeping heart rate is around 80-120 bpm and now she’s alarming because she’s getting down to 48-50 bpm and not bouncing back up unless she’s jostled. It’s enough of an issue that when it happened in the past the nurses came in and just hooked her up to the heart monitor on their own accord and watched her. When they do it again this time at 2 a.m. because she’s been alarming so much I realize that it’s time to ask the cardiologist what he thinks about it.

When the next morning rolls around and Dr. McArthur is making her rounds she mentions the heart issue and says that she is going to ask Dr. B (cardiologist) about it today and she will call and let us know what he says. Something isn’t right in the state of Denmark and it just cannot be ignored. Calls get made and guess what! Not a big deal at this time. As long as she DOES bounce back then it’s nothing to be worried about. This doesn’t sit well with me on so many levels but again, I am not a doctor right.

As Alana starts to heal from the inflammations attack on her but we are still having problems with eating and drinking. Dr. McArthur at this point is thinking that she might have to start TPN (nutrition through an IV which can cause its own mess of problems) in order to stop her from losing any more weight and not getting any nutrients and vitamins. She’s got 1 more day to stop losing weight before it has to be done. Wouldn’t you know it the next day rolls around and she’s not lost any more weight!! She is holding steady and there is hope that she is going to pull through it without needing any more support than shes already been given! Whew!

I’d like to say that we left the hospital and she was much, much better. If you’ve been reading then you may have picked up on the fact that this year has been like no other with Alana, she’s sicker more often, she’s having issues with gaining and holding onto weight, she’s getting dehydrated within a day of major illnesses, and she’s just miserable more often than not. When we leave she is better, just not better than she was a year ago. She is still so tired and fighting us on eating and drinking. She will eat 1 small meal and not want anything else for the rest of the day. She’s now starting to flux between diarrhea and constipation and that is bringing on stomach pains. There seems to be no end in sight as to what is going to happen with her the next day or even the next hour. Her O2 needs are creeping up and she is struggling with things that she could do almost with ease before. Things like swimming; she used to love to swim and was very good at it for her age. She could do stroke, stroke, breathe and she could dive off the edge of the pool and swim up to the surface by herself no problem. Now she can’t do either of those things even with help. I cannot figure out what is going on and why she’s having such a hard time with everything, is it her lungs? Is it inflammation we cannot see or find? Is she having another issue that we are not aware of? All these things are not things that I want to add to her unknown "in basket"!

Things go by really fast because it’s the holiday season. After Thanksgiving I start to gear up for Christmas and Alana is very excited about something, she’s the Christmas angel in the school play-again! Last year she was slated for the role but where was she last Christmas, oh that’s right…she was in the hospital again. :’( This year will be different though because according to the doctors this too will pass and she will be okay by the time the play comes around. I won’t mention that I’ve taken her into Dr. McArthur almost every week ‘cause her cough is so bad that she cannot make a single sentence without pausing for air and having a coughing fit. I won’t mention that Alana herself has asked her doctor how she’s suppose to talk for her part in the play without coughing. Nothing is making her cough better besides increasing her O2 and that’s a hindrance in itself.

A week or so before the play things start to change for Alana again. We have a big appointment coming up with Dr. Demain to redo her EGE testing and we are all looking forward/terrified of it! Last time we went from 3 foods up to 9 so it’s anyone’s guess how this is going to go. Her appointment is on a Monday morning but by Saturday night it’s not looking good-Alana has a fever of 102.8 and it’s climbing. By Sunday we are hanging steady at 103.2 and pushing Tylenol and Motrin to keep it in check before making her an appointment to go see Dr. McArthur on Monday. By Monday morning though things start to improve and she’s down to 100.4 and looking a little better. Not much mind you but enough that I take her to see Dr. Demain first (it’s a 6 month wait for these appointments and yes, been there done that with her fevers) and figure I will take her into the ped. after her visit with Dr. Demain. Well that goes over like a charm!

She’s lost more weight and after he listens to her lungs during the first part of the exam it all goes south. She has pneumonia. Go get a chest x-ray right away and walk the films back up with you to the office. Stop and get labs on your way as well so we can check her CRP, SED rate, WBC, and start cultures. What’s the motto? Don’t cry, just breathe.

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.

Results...

We ended up not having to wait that long. The results were sent to a special pathologist in Texas who specialized in certain types of lung disease and she was waiting for Alana’s lung to get to her. It came back and now it seemed as though we’d have a diagnosis after all this time.

After we got home the wait for the test results was crazy long (okay it wasn’t as long as it was suppose to be but it seemed like it). Alana seemed to be doing really well. She was healing nicely and was in a phase that makes us think that she’s not sick at all, that we are just mistaking a bad cold for something else. We can dream right!

Dr. McArthur called as soon as the results came in and it appeared to be what Dr. R felt it was; Hypersensitivity Pneumonitis. What they found in her lung tissue was not good. You have to remember now that this isn’t like her bronchoscopy; they were not looking at matter in her lungs like fluid, cells, inflammation, etc. They were actually looking AT her lung, on the cellular level, in the dissection sort of way. This isn’t stuff floating around in her lungs, this is her lungs. What they found was this:

1. Small necrotizing and non-necrotizing granulomas.
2. Interstitial lymphocytic inflammation, patchy mild, with focal organizing pneumonia.
3. Non-specific airway injury.
A. Airway subepithelial fibrosis, minimal, focal.
B. Lymphocytic Bronchiolitis, minimal, focal.
C. Lymphoid hyperplasia, mild.
D. Alveolar distention, focal, suggestive or air-trapping.
E. Focal mucus stasis and alveolar macrophage accumulation in bronchioles.
4. Increased tissue mast cells.
5. Pleural lymph node, no pathologic abnormality.

Now that all the medical talk is out of the way, what that all means is that her lung biopsy was bad, very bad. There was a note in the pathology report though that struck a chord with me, there were things that are not “typical” of hypersensitivity pneumonitis (HP). This was important to me because as I read and learned more about HP it didn’t seem to really fit her. There were things that did, truly did fit but there were more that didn’t. Part of the problem that I had was the fact that when her tissue was sent for pathology it was sent along with the fact that they were looking for HP. So basically we are sending you this lung biopsy and we want you to confirm that she has HP. To me that set up a bit of a bias on what to look for, especially given the fact that she didn’t really fit anything 100% and even Dr. R was in agreement with the fact that she was a difficult case.

Now if things were not already stressful they get even more so. We openly disagree with the diagnosis of HP. There are a few reasons for this, one big one being that testing of the house over and over again shows no antigen (thing that she could be reacting to), and her blood itself isn’t revealing anything that it’s responding to. Multiple tests are done and then they are done again with triggers that are unheard of with HP just to be sure. It’s just not adding up, there is no time frame that she always gets sick, say every time it warms up or gets cold or every time we go to the grocery store. With HP there has to be some pattern of exposer that leads to the acute reaction.

We have a care conference with Dr. R, Dr. McArthur, and Dr. Demain to discuss what to do and how to do it. This gets nowhere to be honest. I respect Dr. R and that has come grudgingly. It’s not that we don’t think he’s a great doctor, we just think he’s not a great doctor for us. There are things with Alana that are so beyond the scope of normal that it makes it hard for doctors to accept that their knowledge isn’t working and that they have to think outside of their comfort zone. Not all doctors can do this and it doesn’t make them bad or incompetent, it just makes them wrong.

After the care conference the search goes on to find what would fit her. With the biopsy results in hand and staying focused on her lung issues only we find a doctor in Cincinnati who seems to be very knowledgeable about rare lung diseases in children. Dr. Lisa Young at Cincinnati Childrens Hospital, one of the top 5 for children hospitals, a mecca as 1 doctor here put it. After talking with Dr. McArthur about it we decide to contact Dr. Young and ask her if she’d take a look at Alana’s case and consider giving it fresh eyes. Within days of sending out that email she responds back and is more than willing to look at Alana’s case and all that she is. She already has some ideas and is very interested in her case but the best thing of all is that she says she may not have the answers that we are seeking but that she won’t give up helping us. That to us is amazing news!

There is what I like to think of as a phenomenon with Alana and her medical issues, we get all these doctors and residents who want to know everything, every little detail. They labor for a day or two racking their brains with what it could be, promising to give us answers and help and be there for the long haul. What ends up happening is the opposite of that. She’s “interesting”, “complicated”, “intriguing”, and “confusing” all at the same time but as soon as it moves to “frustrating”, “complicated” and “unknown” they move on. That excitement that is there when you are a doctor or anybody for that matter, faced with a problem that you feel you can have the answer to leaves you when you start to just get annoyed and frustrated. Most pack it up and move on to another problem. Some hang around and tackle the challenge head on like Dr. McArthur, our own saving grace, and she’s going to help us get to Cincinnati because there are things amiss with Alana’s lungs and we are not the only ones who would like to know what to do.

The summer is here...

The summer ended up being a long one. Alana spent even more time sick and in and out of the doctors’ office as the summer continued. Dr. McArthur tried to make things easy. She ran tests. She asked for consults and then she ran more tests when the first ones didn’t yield what we were looking for. It is now May of 2007 and she has been sick for all most 3 years straight.

The rest of the summer is pretty much the same as the start of the year was. Noelani and Shaylin are trying to be brave and remain little girls. Shaylin seems to have the hardest time with all of this. Noelani seems to cope better and that may be due to the fact that she’s older, more mature and able to talk through her emotions. Alana keeps us from a lot of things. We don’t go camping at all because she can turn at the drop of a hat. She can be smiling, eating, drinking, and coughing all time than WHAM! She is dehydrated, lethargic, and struggling to breathe.

Because we are not getting anywhere when it comes to her coughing we try and focus on the diarrhea. What if we can at least get that under control? Maybe other things might fall into place as well. We meet with the GI doctor again and yes again he tells us that there really isn’t anything that he can think of to do. It was a blessing that her immunologist, the wonderful Dr. Demain wrote another referral stating that she did need the GI doctors’ help.

We meet with Dr. P and he tells us that doing an EGD (esophagogastroduodenoscopy) and colonoscopy might give us answers about the chronic diarrhea. After thinking about it for a few days we decided that while it is another procedure we need to do it if we hope for any answers. Early November we go back to the hospital and have the scopes done. I get to stay with her this time until she is fully under. That was an experience in itself. She was usually sedated when they took her but never fully under. She did great though. It did take her hours to wake up in recovery which seems to be her M.O., but we were overall pleased with how she handled it.

The results came back with some results (say that 5 times fast)! In her duodenum there were eosinophilic cells which are a type of white blood cell that is related to allergic reactions (among other things). Dr. P tells us to go ahead and go back to Dr. Demain and speak with him about the results because they might mean that we are missing some of her allergies (remember from above that she has Eosinophilic Gastroenteritis). It isn’t too long before we have our appointment with Dr. Demain and he has his thinking cap on.

We end up deciding to re-patch test her. I don’t remember and I don’t feel like looking back to see if I explained what that is but here it is again. When you are patch tested for allergies compared to scratch testing (where they place small scratches on your arm or back with the tips of the “needle” dipped in an allergen) they place small metal discs in your back filled with the perceived food threat and a special compound. The discs are left on your back, covered in tape, for 48 hours. No shower and no messing with them. After that time you go back in and the patches are removed. The nurse does a first impression and writes that down. After that you go home and the actual read is done the next day. With it being a “cell based” reaction, not the same as an oral reaction which may it turn cause an anaphylactic reaction, it takes time for the body to react.
She has her whole back filled up with patches including the ones that we all ready know of, beef, chicken, pork. Now I have seen enough of these to know that something wasn’t right with her back the night that they were taken off. In the past she’d never really complained about them once the tape was off. Now she was hysterical and scratching against anything she could find. *sigh*
She comes back positive for beef, chicken, pork, turkey, corn, carrots, rice, oats, and eggs. I started to cry. I just could not help it. I know in the scheme of things it wasn’t terrible. She had gone through so many things and we knew that she was having diarrhea for a reason so this shouldn’t be a huge surprise but it was. I was expecting maybe 1 or 2 new foods but not 6 more. To make things even more stressed out Dr. Demain decides that she also needs to be taken off all diary foods to boot. Sometimes even though things do not come back positive for milk he explains that it’s a tricky one. There is a thing called Heiner syndrome and she does fit it. That was exciting. The cure…NO MILK! It is a relatively unheard of disorder but as you can see here are some of the symptoms.

• Chronic airway disease
• Iron-deficiency anemia
• Recurring diarrhea
• Failure to thrive
• Cough
• Shortness of breath
• Wheezing
• Recurring respiratory infections
• Retarded growth
• Gastrointestinal disorders
• Pulmonary hemosiderosis
• Partial or complete lung collapse

Hello!! How many of those does she have! It was a mix of bittersweet about all the foods but maybe, just maybe there is another answer out there. The test is just to remove every speck of dairy from her diet. We meticulously remove all dairy from her diet. No one would feed her they were so afraid to mess it up! The goal is no milk or other dairy for 6 months and within 1-2 months she should show signs of improvement if it is Heiner syndrome. Fingers and toes crossed right…

As December rolls around with all its festiveness and warmth and Alana is going down for the count. By mid-December there is no use denying it; she is really sick. By the way, if that isn’t enough right now I end up having to have a surprise total abdominal hysterectomy at the start of the month. What the hell right!! So anyway-my hospital stay wasn’t going as smoothly as hoped and I had to spend a few extra days in there. All the while Larry is juggling the girls and work and yea, as mentioned Alana is getting visibly sicker each and every day. I leave the hospital sore but all right and 8 days later Alana enters the hospital again. I’d like to say it wasn’t something usual that she had a bad virus, that everyone in the house was sick with the flu but alas, nothing could go that right. She has atelectasis again and infiltrates. The fevers are just under 104° and we cannot get them under control (I could have cut and pasted that from above right…).

Dr. R comes in and we start discussing what should be done. He is now suggesting that she have a lung biopsy done. What they would need to do is make 3 incisions on her chest. One on the back where the biopsy specimen would pass through, one on her side where an instrument would go, and finally another on her chest, right below her nipple, where another instrument would go. He tells us this is the best way to get a “definitive” diagnosis for her (to confirm his diagnosis of hypersensitivity pneumonitis) and to actually see her lung under the microscope. We are listening and agree to meet with the surgeon. Dr. J comes in and we start talking. He is a gentle man and you can tell that he’s been around the block for awhile. This can be a good thing and a bad thing. Older doctors have the wisdom, experience, and proven track record to get things done. Both Dr. R and Dr. J fall into this category. The downside is that they are set in their ways and sometimes unwilling or incapable of exploring newer possibilities. Luckily, Dr. J was a wonderful combination of both old school wisdom and realization that the parent is running the show.

Dr. J does a complete exam on Alana and feels that she is too ill to do the biopsy. He tells us that she could end up on a ventilator and there is the possibility that she won’t come off of it. Yes, things were so very, very hard right then. I mean think about it. It was a no brainer that we did not want her in a worse state than she is all ready in but that small possibility that we could finally have a diagnosis! That we could without a doubt see what her lungs looked like and what they were “made” of and what if “it” isn’t there when she is well!?! Do we miss the window in which she is acute and is the best chance to see what is causing it or do we just let it go and hope that in time when she’s better but not better we do it then? Nothing is easy with Alana is it?

We are upset, Dr. McArthur is upset, Dr. R is mad that we are considering not doing the biopsy, and Dr. J was probably wondering what the hell we are all doing. I don’t think that I have cried that much in my life as I did that day. Oh and yes, it is the day before Christmas and we are not going anywhere. We spend Christmas in the hospital praying that Alana will make a turn for the better.