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.

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.

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.

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!!

Here comes round 2...

So where’d we leave off? Alana just did her first hospital stay and had her first surgery. We are at almost at 2 years of life for her. She’s such a trooper though. Through all this she’s still smiling, playing, and bringing joy to our family. She’s keeping not only Larry and I busy but her sister’s as well. They think she’s the doll-child and always want to hold her and play with her. Noelani and Shaylin are sometimes left out in this equations that is Alana. They are so good and understanding that it’s easy to forget that they are gong through this too. That they are seeing what she’s having done. Seeing the missed trips to the park because Alana isn’t well enough or the dinner out because she’s coughing so badly. The girls have so much compassion and strength in them that they make Larry and I look weak.

After Alana has healed from her surgery we hope and pray that this is going to be the thing that makes it alright. Having the tubes in will help with the ear infections and having her adenoids out will help with the coughing and swelling she’s having around her nose. It’s been almost 2 years now and it’s about time that she had a break from feeling cruddy you’d think. We did dream, and we did hope, and we did pray. The ear infections were cut in half! She was still having them and she still does but they are nothing like how they were. It was so nice to not have her on antibiotics for ear infections finally. And yes, on that note, her cough did not go away. We were still so very happy that at least one thing seemed to be moved outta the picture that maybe with time her cough would go away. It just needed more time to adjust to the new structure of her face right? So yea, the cough goes on and we go on and the world keeps moving around. She’s still in the doctors a ridiculous amount of time and we are still debating the use of antibiotics to try and clear what is a sinus infection? Cold? Flu ? Bad luck?

By July of 2006 she’s been sick again for months. Coughing, fevers, dehydration. Her CRP level keeps going up and they are not sure what to do about her. She’s now about 30 months old and has spent so much time sick. It isn’t long and she’s admitted yet again. Same diagnosis. Pneumonia. I remember being so upset that I could barley talk one night. Larry and I are fighting because things are not going well. Who do you take the most out of when things are not going well? Yea, your spouse or other significant person in your life. I was so very angry with the doctor at this point that I couldn’t see straight. This would be the last time this pediatrician was involved in Alana’s care. We were told that okay, now we can see that maybe this might not be normal even for a sicker kid who might just be unlucky and “catch” everything. We now say no, we want to see Dr. Demain now. This is it there is something wrong here and it’s not at all normal.

Dr. Demain comes in and sits beside her bed and tells us that now we are moving into a new area. It’s not just little tests anymore and the things they are looking at are dig deal immune problems. Okay we tell him. Better to know and deal with it than to not know what to expect at all. He then gets the ball rolling by giving her an adult dose of the Pneumococcal vaccination in her thigh. He tells us that the reasoning for this is that if her body does what it’s supposed to do then we will see redness and inflammation around the injection site. That means that her body is reacting to the shot/dose and there’s a sign that her body is indeed fighting foreign things.

So what has proven to be a consistent in Alanas life happened. It came back as a normal reaction. She did have a boat load of labs done at the same time and those came back normal for the most part with only a few things slightly eyebrow raising but nothing worrisome. T&B cell panel all within normal range, neutrophil oxidative burst: normal, 23 serotype S. Pneumoniae IgG: detectable but low, etc. etc.

This time they feel it would be beneficial for her to see the Infectious Disease doctor as well. He was a very nice man and I’ll give it to him that he tried. He ran a few tests and asked us a lot of questions about her and her past. He was very kind and told us that he would be grasping at straws to fit her into anything that he’d be able to help with. So again, we do our time and she improves. We try to remember that it’s not over this time and we are not taking any more of this “She’s just sicker than other kids” crap. We are now on the search for a new pediatrician on top of all the other things that we are trying to sort through.

Time goes on and she’s having good days and bad days. We are still seeing Dr. P. the ENT, and he’s trying to help us with her and come up with things that may help. She’s still not sleeping through the night and she snores on top of that. Given the size that her adenoids were we start talking about maybe taking her tonsils out. There is a relation to the size of one’s adenoids and their tonsils it seems so hey, maybe this route will at least work to help with the sleeping issue. If she could sleep through the night then maybe she will feel better and be able to stay a bit healthier in the long run.

October of 2006 she has just turned 3 years old! She’s a bright little bugger & is so used to seeing different doctors that at this point she’s calling them her “friends”. There were so many little things in the in-between that I’ve failed to mention. At 9 months of age she stopped growing. Just stopped growing and we were not sure why. She's not added failure to thrive to her list of "things" going on with her. Her bowel problems had remained consistent so there wasn’t any flair up in that area. She was just being how she’d been in the past. This went on until she was 18 months old (right before she went into the hospital). During that time we saw an Endocrinologist to see if there was anything in that realm that would account for what was going on with her. She, the Endo., ran tests for a few things like Turners syndrome & other genetic disorders, bone scan to check just that, her bone growth, and then a few other random things. Through all this Alana is just hanging tough. She’s sick for months at a time then better for a few weeks or even a month. I think she went 3 months without a cough or fever one time!! Through all this I think there was two different trains of though not only with the doctors but with our family.
They included:

1. She will outgrow this. You hear about kids all the time who have strange things going on with them and then one day *poof* they are better. No reason for them to be sick is ever found but keep the faith and in time she will show you that it’s going to go away.

2. That this isn’t a fluke thing. That this is the way that she is and wishing and hoping it away isn’t going to make it go away. Sitting back and just waiting for her to get sick again and then dealing with it isn’t an option.

3. And my personal favorite that we still hear off and on to this day "Well, she doesn't look sick to me."

As you can guess there were a lot of emotions running around by now. Every one of them was spoken with love and caring with no harm intended. It’s hard though when you are the one running to and fro for appointments. You are the one who’s always hearing that not only can they not fix it but they can’t even tell you what the bloody hell “it” is. No matter how strong your spirit and resolve are those things get hard and you can feel so lonely. Not lonely like alone in the wilderness but alone like you are screaming and people are just walking by, they can see you but it’s as if you are mute. That what you are saying isn’t important enough for them to take notice until it’s too late.

Home again

And we return home…
We stayed a few days in Glenn-Allen for Christmas break then decided to head home a bit early. Alana was still having issues coughing but again, kids get colds. She had already proven herself to be different then her sisters and you hear that all the time. No matter how many children you have they may come from the same stock but they are each unique. We arrive home and make her a doctor’s appointment for the coughing and leave it at that. I take her in and yep, the pediatrician tells me that she’s got a cold. Probably caught it from her sisters. Take her home and steam her in the shower, make sure her head stays elevated and that will help her from getting the congestion that is sure to follow.

Looking back you can see through copies of the pediatricians phone logs how many times I call about this cold. This never ending cold. Hell, even looking back on it myself I think I was insane. We are just annoyed at this point. Aside from coughing all the time she’s nursing fairly well. In fact, she’s trying to nurse all the time. If there’s ever been a true point in my life that I felt like a cow it was then! She nursed every 2-3 hours and seemed almost never satisfied. She put on weight well and was in the 80% for a child her age. She did have reflux but Noelani and Shaylin did as well. She was having loose stools but nothing that was very worrisome at this point.

Time goes on and we’ve almost become complacent about her coughing. She’s now developing bags under her eyes. She’s not gaining weight all that well anymore and we have resorted to trying antibiotics. At 6 months old we start trying solid foods. We notice almost right away she’s having major bouts of diarrhea and becoming worse in general. She’s crying a lot and not sleeping well. She’s coughing even more than before and we are getting more and more concerned. The phone calls and visits to the pediatrician are ramped up. We finally get a referral to one of the kindest, most compassionate, brilliant doctors we have come in contact with, Dr. Jeffrey Demain.

Okay, so there are some things that we already know about allergies. Shaylin had a turbulent few first years as well. She was having diarrhea so bad that it was burning, literally burning, the skin off her bottom. Nothing virus related was coming back and she was failure to thrive when she was a year old. She had to have IV’s placed in the doctor’s office just to keep her hydrated. This went on for 2 years. She only ended up in the hospital twice, once for dehydration and the second for Rotavirus. We took her to an allergist who did the standard scratch testing but that didn’t reveal anything other than grapefruit, strawberries, and pork. This surely wasn’t what was causing all her problems. This were not things that were in her diet on any sort of regular basis so why/how could this be causing her so much distress. We continued to have problems. Dr. Demain is the allergist who we have been working with through all this and he’s just come back from The Childrens hospital of Philadelphia. I’ll never forget our follow up appointment with him. He was all smiles and very excited. He told us that in C.H.O.P. that he had learned about a new way to test for a different type of allergy. Not the standard type reactions that you get from scratch testing. You place this little food filled disks on people backs. They stay on for 48 hours. After that they are removed and then initially looked at. Depending on how many little bumps they see or feel it’s recorded as trace up to +3. Then another 24 hours go by and the actual reading is done. Again, following the same scale. Shaylin was one of the first handful of children that he had the chance to put these disks on. What it showed made a difference for Shaylin on such a level that she went from so far below growth to now at 8, petite but healthy. Shaylin has a disorder called Eosinophilic Gastroenteritis. What this means is that she has a type IV reaction to foods. Here is a clip from the American Partnership for Eosinophilic Disorders:

"A growing number of children and adults suffer from a chronic and complex group of disorders described as Eosinophilic (ee-oh-sin-oh-fill-ick) Gastrointestinal Disorders (EGID). These disorders are characterized by having above normal amounts of eosinophils, a type of white blood cell, in one or more specific places anywhere in the digestive system. EGID is further subdivided into organ-specific diagnosis. For example, Eosinophilic Gastritis means eosinophils infiltrating the stomach. "itis" means inflammation. While visual inflammation is not always present, inflammation may be apparent under the microscope."

Shaylin was +2 to +3 for Beef, Chicken, Pork, and Citrus. All things that were in her diet at this point. Orange juice, little Gerber beef sticks, diced chicken for protein. Once we eliminated those foods she was a completely different child within 8 weeks. Thank you Dr. Demain!

So how does this tie into Alana. Well aside from the coughing we thought Oh’ let’s get her allergy tested and she’ll be okay too. This really is just a super bad cold.

Looking back I personally feel so sad and ashamed that I didn’t do more to recognize that something was wrong. That I listened to the pediatrician that she just had a cold and she’d be better the next day, the next week, the next visit. Maybe will never change things but yes, maybe if I had been more proactive then she wouldn’t have to endure as much as she has now.

The allergy testing showed an Eosinophilic reaction like we’d expected. Beef, chicken, and pork. Dr. Demain was not content with her ongoing illness though. He now starts to point us in the direction that this isn’t just a bad cold, that 3 months of illness in a baby isn’t ever just a bad cold. And so begins the first set of testing and months of strong antibiotics.