Today's the day...

What a busy day yesterday was! I picked up the Sequel (a portable O2 concentrator) for our trip and I am going to have her use it today while we are around town to make sure we are all comfortable with it before we leave tonight. It's bulky and to be honest, I like her ladybug better!

She was so bloody cute yesterday when her friends James and Dylon came over. She hasn't seen them in a awhile and they brought her over a wonderful stuffed giraffe and the whole family prayed over it before they gave it to her so it was meaningful on so many levels. They played upstairs then went outside on the swing set and she was giggling and hugging them. She had taken off her O2 right as they got here...she thinks it makes her look funny, and for the 10-15 minutes that they were playing she was short of breath but refusing to settle down (I wasn't trying very hard to make her I admit) and as soon as they were gone and she put it on she was breathing a bit better but PT ended up being rough.

So today is finally here. I've got a few last minute things to take care of and hope to have a really good day with all of the girls. We leave late tonight so I will update again after her first appointment tomorrow afternoon.

“Each time we face our fear, we gain strength, courage, and confidence in the doing.”

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.

Seattle Childrens

Alright, so taking deep breaths and hoping against all hope that they have an answer for us off we go to Seattle. Larry takes Noelani and Shaylin to Ketchikan to meet my parents then he continues onto Seattle to meet me and Alana. We took an earlier flight so she wouldn’t be as tired the morning of her appointment and in hopes that she’d be able to settle a bit as well.

So we head to Seattle Childrens hospital bright and early. I am still chipper at this point because what’s the worst that can happen? They tell us she doesn’t have an immune issue and send us to rheumatology for the answers that we are sure to find. Alana is what, just over 3 now and it’s been a long and frustrating road thus far. Dr. McAurther had tried to gently warn me that if they had clear cut answers about Alana there’d be no need for them to actually see her. They’d be able to relay all the information on the phone. The hopes of this visit would be to gather more information, a fresh set of eyes if you will, and then come home and await the test results. With that in mind we meet with the fellow in immunology first, go over everything from bow to stern. He thinks a bit then tells us he is going to get the doctor and yes, the doctor comes in and wants us to go over it all…again. *sigh*

Now, before I go any further I hate to say it but…DOCTORS CAN BE THE BIGGEST JACKARSES ON THE PLANET!!!! Alright, I feel better now. Going on now.

After we tell him all there is to tell he sits back and thinks about it, takes it all in. Then he starts to tell us all the great news. Let’s start with #1- Alana is a “complicated” case. #2- There will be no easy answer. #3- We just will have to wait for medicine to catch up with her.

So yes, those are his tidbits of wisdom. He tells us that she’s had a rather in depth immune work-up. That what we are doing is all they can think to do at the moment. But, all in all this wasn’t something we didn’t expect. We are waiting anxiously for him to say the magic words (RHEUMATOLOGY) and he does!! What he says is…”We have another doctor who is both an immunologists and a rheumatologist, we will let him have her file and see what he thinks about it. Thanks for coming and as medicine catches up with her then we will be able to help her more. In the meantime what you are doing is great. Continue to manage her needs as they arise and stay in touch with all your doctors. See ya now!” (Remember to breath, don’t cry, remember to breath, don’t cry)

Through my frustration and tears I manage to speak. Why did we come here? Why can’t we see rheumatology? You are not giving us anything more than we came here with! Maybe it was my absolute desperation or maybe it was he just wanted this blubbering mess of a woman out of his office but he throws us what he considered a bone. Here, why don’t we send you to pulmonary and see what they think. First go ahead and get an x-ray so you can have that with you when you see them and they will get you in today before you have to be at the airport. What more can I say or do? He and his fellow are done; they are hand on the door, walking out D-O-N-E, done.

We leave his office, defeated, hurt, and feeling very, very alone. I call Dr. McAurther and she leaves a patient to take my call. I am amazed the woman could even understand a single thing I was saying (or trying to say). I tell her what just transpired and ask her, beg her, what we should do. I have to admit, that is the first and only time I’ve ever heard Dr. McAurther angry. It’s not her style from all we’ve seen of her but oh, she’s angry now. She tells us to go ahead and do the x-ray, go to the pulmonary appointment and she will call us back with a plan.

Alana does the x-ray like a super girl she is and it shows that she’s got an infiltrate in the LLL (left lower lobe) but that’s all. That’s not something totally unusual for her. Sometimes they are there, sometimes they are not. It’s nice to know as it means that we are just getting over another episode or we have one coming on.We take the x-ray up to pulmonary and meet with a Doctor. I can honestly say I don’t remember her name. One thing I do remember is that she made a point of telling us that she is a friend of Dr. R. (yes, if you’ve been paying attention like I know you are, Dr. R is her pulm. here. Go figure) and why are we there in Seattle? She listens carefully to us recant again the story of Alana. She looks at the chest x-ray and then she tells us what we have heartbreakingly come to expect. Alana is a complicated case. Stick with the status quo. We don’t feel that nothing is wrong with her; we just feel that we can’t figure it out right now. Did you enjoy Seattle? What time is your flight?

We leave Seattle Childrens at 9 pm that night. By the next morning Alana is coughing and running fevers again. We settle in for the long nights ahead and try to not fall apart.

You are joking right...

So now we have a diagnosis?? That’s the question we are left with. A time that should have been a strange sense of relief for us, a diagnosis, we were left with the feeling something that I equate to shoving a size 2 dress on a size 10 woman. Sure you can make it fit but should you?

Our life at this point is chaos. The older girls muddle through her hospital stays and endless visits to the doctors. We are searching harder now for an answer and finally it is very clear to everyone that what’s going on with Alana isn’t going to go away. It’s not getting better and this last stay was a wake-up call for all of us.
Time goes on yet again. It’s funny how that happens. When you least expect things to happen they do and when you expect them to happen they don’t. We spend month’s on pins and needles waiting for her next big flair up. Don’t get me wrong. She’s sick every time we turn around. Something to remember with Alana is this, when she’s “OK” it’s just that. She is always coughing. She is always having either fevers or diarrhea. The thing that makes it an OK day vs. a bad day is how she handles them. She can have a 100 degree fever and be laid out on the couch and needing to be watched at every breath or she can be 102 degrees and be up and playing and eating just fine. It really is a day to day on how she’s feeling. We can have weeks with no issues other than her normal self (slight fevers, 10-12 BM’s, slight coughing) or we can have weeks of bad days (high fevers every day, 12-15 BM’s, non-stop coughing). All is relative to us at this point.

As I said though things are not going unnoticed now and her symptoms are demanding that the doctors pay attention to her. Something that is in the works is sending her to see doctors in Seattle. The childrens hospital here is amazing. It truly is and for our location on this big world and being isolated from a lot of things it really makes a huge difference for the children that live here. That being said, there are some services that they cannot provide. There are some thoughts floating around now that Alana has a rheumatological condition that is causing all of her problems. This is a great idea and seeing as we’ve done such extensive immune work-ups and random things with no real results. This is one area that she does fit, and that we’ve not looked at to a great degree.
The process of getting her there isn’t a piece of cake though. I mean actually getting her there is as easy as getting on a plane. Getting her seen there is another issue unto itself. I can say one word and make it all very clear to you why that was an issue…insurance. Do you have any idea how flipping hard it is to get clearance to go on a “fishing expedition”? We don’t have a diagnosis, we don’t have a clearly defined pattern of illness (in their thoughts) and why can’t we just use the doctors here?

Now this is another area that Dr. McAurther shines like the supa star she is. She gets to work writing letters to the powers that be that Alana does need to see rheumatology that no, she cannot wait for them to do their every 6 month rotation up here and that she needs to go now while she’s well enough to travel. Long and short or it, Dr. McAurther rocks and she gets us going. We are so excited as the approval comes down because that also means they will pay for our tickets, well Alanas and mine, hotel, and food for the both of us. This is a huge, huge, relief for us. Now all we have to do is wait for Seattle to call and tell us when our appointment is going to be. Yea!

That call finally comes (it wasn’t really all that long, a week or so) and it’s from Immunology. Huh?? We don’t need to see Immunology seeing as we have a wonderful one (Dr. Demain) here who’s been in touch with the doctors in Seattle already about Alana. For that matter he’s contacted colleagues across the country regarding her and what tests should he add to her already impressive resume. Why are you making me appointments to see them when we are suppose to see rheumatology, they are suppose to be the ones that help us with her not sending her somewhere where they are going to redo the things we’ve already done!!

After some phone calls to and from the doctors in Seattle and here turns out that rheumatology doesn’t want to see Alana. They feel that she does have an immune issue and that if we see their fellows and doctors and they say that she doesn’t that have an immune issue then we can see them. ARE YOU KIDDING ME!!