Friday, March 30, 2012

Shocking

Shocking!  One word to describe the round of testing yesterday for Shelbie at University of Washington Medical Center.  They were testing the peripheral nerves in her legs and arms.  Every few seconds, they gave her a shock on various places of her arms and legs then watched on a computer how her nerves reacted.  Good News!!! They are fine! 

Bad news...the problems must be coming from her brain or spine.  Booooo..... So, the next step is a brain and spine MRI.   I'm not sure when or where we will do that but we should know soon.  Both her and Spencer are having little seizures in the muscles and nerves of their lower legs which is a little odd, a lot odd. 

We left Seattle yesterday in a downpour then got stuck on Snowqualmie pass in a blizzard.  3 lines of traffic, bumper to bumper and the fastest we ever went was 20 mph which was actually a good thing.  I hate driving on icy, snowy roads when you have some wacko passing at 80 mph.  so it really wasn't the most stressful part of the trip. 

Once off the pass, we had more rain.  The rain was so hard visibility was horrible and I had to keep my speed down.  It took us an extra couple of hours to get to my parents because of the weather.  We are going to stay here through the weekend.  It's been a good stop.  The kids are relaxing and distracted and they really needed a break before heading back to school on Monday.
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Wednesday, March 28, 2012

The Point- for now.

The point to this trip?  At first glance, it may seem like we are no further ahead then we were a week ago but there are many positive things that have come from our time here.

At our last visit here about 9 months ago, the doctor was a little casual in his diagnosis of Mitochondrial disease and that has left me with some questions.  This visit had a much different feel to it.  Clearly, the kids have mitochondrial disease but exactly what the process is remains to be seen.  He is testing one theory of it today with the POLG genetic test.  He is very confident this test is going to come back positive but I have decided to not speculate too much.  The kids have the majority of symptoms, it is recessive and the carrier can have some symptoms as well, which I do.  If the kids do in fact have this disease, he will add some things to the current cocktail mix we are on but the bottom line is, there is no treatment he can offer that will fix this.  It is progressive and depending on how fast it moves, can swiftly end a life or it can just make the quality of it really poor and painful. 

This visit has put things in perspective.  When we got finished on Monday, Shelbie totally fell apart even before we could get out the door of the hospital.  We went down to the cafeteria to get a drink and calm down but she ended up storming out.  I left the boys with a drink and a donut and went to find Shelbie.  She was standing in the corner of a busy restroom crying.  It was the saddest thing in the world to see and all of a sudden, she was my little girl again.  A little, scared girl I wanted to scoop up in my arms and make the world go away. 

I walked her out to a quieter place and I let her come unravelled and that was hard to hear such angry words, most of them directed at me but I kept telling myself she was just tired and scared and didn't really mean any of it.  By the time we finished our talk, she was calmed down.  To her, she hears that she has yet another disease, one more problem and her frustration is, "How can one person have so many problems that no one can fix?"  She was hoping for a cure.  I explained to her that she doesn't have 20 different diseases, she only has 2.  The 2 diseases together cause problems that can feel like lots of different things but it's not.  She understood that and although it seems like a feeble explanation, it's true.  It's much easier to think in terms of 2 than in terms of 20.

The rest of the day was hard as each one of the kids slowly came to terms with the day and I had to help them navigate their feelings and sort through it all.  Each deals with this in a different way and that becomes tricky not to mention hard. 

I am glad we came.  Shelbie is starting a new medication for the nerve pain and tingling she is having in her legs and will hopefully keep her upright instead of falling over.  When we get home, she will have to have the tilt table test and Spencer will have to see an Orthopedist about his weak ankles that make him fall and he will need to see our GI in Boise, so another trip is in store for us.  Sam will have a visit with the Opthalmologist to see if there is treatment for his Ocular Migraines. 

More tests today, a one more big one tomorrow then we are out of here.  Hopefully today, I can find a way to lessen the stress and stop worrying about how to pay for all this and make up all the work I have missed.  There are lots of good things that have come out of this visit but to list them all now would make for a novel, not a post.
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Tuesday, March 27, 2012

Yesterday

Yesterday was pretty darn stressful.  We are staying in Bellevue which is a ways from Seattle.  We had to be at the hospital at 7:45 for check in so I figured we needed be out of here before 7 in order to wind our way through the morning commuters.  Since 4 of us needed to shower, one of us was starting pretty early so I got up at 4:45 which was fine because I was wide awake anyways. We managed to get out the door just before 7 but then the hassle began.

When I went to bed, I hung my hearing aid on the outside pocket of my bag.  In the morning, I packed up my bag with the laptop, medical records, notes, etc for the day.  I thought nothing of the hearing aid, slipped the bag on my shoulder and headed out to the car then proceeded to throw it in the trunk and we were off, until the screaching halt when I realized I couldn't hear what the kids were asking me. 

I drove so fast back to the hotel, retraced my steps, scoured the trunk, the pockets, the hotel hall and then our room.  I prayed like mad I would find it since replacing a $1400 hearing aid was not part of my budget for this trip.  Thankfully it was hanging on the welt cord of the chair in the room. 

We got back on the freeway, took a wrong exit which added another 10 minutes to the trip.  By now, the kids are stressed, I'm fuming inside but trying to be happy on the outside.  We arrived only 10 minutes late for check in but that went well and we were on time for the appointments.  The next setback happened when they told the kids that only one was allowed in the room at a time.  They are use to sticking together but it was really better this way.  I stayed with the kid in the room, and the other two stayed a few corridors away entertaining themselves on their technology.   I'm glad they are older, I don't know what I would have done trying to juggle them alone if they were not teenagers.

Yesterday, we heard some things that were really hard to hear.  Their mitochondrial disease is progressing which I knew but needed to hear it from Dr. Saneto.  Unfortunately, there is nothing he can do at this point, at least nothing more than the mito cocktail.  There is a drug in clinical trials but it is being used as an end of life, compassionate drug.  It looks hopeful.  Out of 100 kids who had three months or less to live, only 4 have passed away and 96 are actually making some small improvements.  He said, when we get closer to 'compassionate' care, he would 'gene chip' the kids and hope for a detailed, confirmed, dna diagnosis because that's the only way to get on the list to try the drug.   There are so many things I am thinking and feeling about this statement but I am going to choose to discount it for now.  We are not close to compassionate care. 

Samuel- He is my healthiest but is having episodes when he is losing the peripheral vision of his right eye.  The doctor feels he is having ocular migraines.  They are painless but you lose your vision.  We are going to watch him and if it increases in frequency then he will need to see an Opthalmologist.  They offered him some ideas to get him through gymnastics without getting so tired so we will try some of those things when we get home.  Sam's condition is stable and for now, his biggest problem is the muscle fatigue, over heating and flushing of his skin.  

Shelbie- It was a hard day for her.  She will be having more tests done today and Thursday.  He thinks the nerves in her legs are creating the problems with pain, numbness and falling over.  She will go for a test where they measure the electrical current in her body and then they will have to insert long needles into her leg muscles as they run a current through.  It sounds horrible but I guess we will find out on Thursday.  She is also the one who we are starting genetic testing on for a disease the doctor is convinced they have called POL-G.  More on that later.  If that comes back positive then treatment takes on an aggressive form.  If that comes back negative, then Shelbie goes for surgery and has to have the muscle biopsy.  We won't know for three weeks. 

Spencer- He is having both mito problems and other problems that could not be identified yesterday.  His labs are all over the place and do not make any sense.  One draw, they point to one disease, a month later, a different one.  He does not know what to think about all of Spencer's issues so we will be consulting GI and an Endocrinologist to figure his stuff out. 

For this post, I will leave at this boring report.  Tonight or tomorrow I will write more about what all this means to me but for now, this is enough.
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Monday, March 26, 2012

Walk a Thousand Miles

"You don't have to push a handcart,
leave your family dear,
or walk a thousand miles or more
to be a Pioneer."
I couldn't get this little song out of my head yesterday as we made our way to Seattle.  I was beyond tired and my back was killing me. I have been feeling lately like a Pioneer.  The resources are dwindling fast, there is no rescue wagon in sight and I think a wheel just fell off my cart. 
       Here we are in Seattle in hopes of a better life.  In hopes that a doctor here will be able to improve the quality of life for my kids as they continue their trek through this thing we call life.  Today we continue our journey through this unclaimed and unexplored world we have stumbled into. 
       There are a few hundred children in the world diagnosed with Genetic Shwachman Diamond Syndrome and the 4 or 5 mutations associated with the gene.  There are a few thousand children in the world who have been diagnosed with Mitochondrial Disease.  There are just a small number of children who have been diagnosed with clinical SDS (Shwachman Diamond Syndrome) and Mitochondrial disease as well.  And by a small number, I mean about 20.  (Just a guess)
        Yes, this is uncharted, unclaimed and very unattractive territory we find ourselves in and although we are not alone on this journey, our little group is spread out far and wide so it really is quite isolating.  Add to that the fact that there are no distinguishing characteristics that announce to the world that something is wrong.  The kids have a full head of hair, they snowboard, they tumble, they go out with friends and they love to be social.  What most people don't see, even on their worst day is the constant and chronic pain, the racing heart, the dropping blood pressure, the pancreas that struggles to keep up.  The weakness and extreme fatigue.  Blood counts that would make a normal person shutter in fear but their deterioration has been a slow process of breaking down and falling apart.
        I think people are getting tired of this.  These reports, the ongoing drama, the never feeling well gets old.  It's getting old to the kids and talk about sick and tired. People wonder why we have to come all the way to Seattle for medical care, "Are they really going to help this time?"  Maybe not.  Probably not....but we are Pioneers.
        We are doing this in hopes that they will find something that will stall the advancements of two very scary diseases.  We are here for all the kids that are coming up in the ranks of chronic illness, that maybe they will have a better life than my kids have had.  We are here to help move science along.  We are here so that some of the smartest doctors I have ever met will see a little more into the human body and what makes us tick along. We are here because I can't do this anymore.  I can't be the only one my kids set their sights on and with sad and scared eyes, beg for help.
         In just over an hour, I will take a big, deep breath.  A gasping breath like I haven't had air for hours and then, the doctor will scoop us up in his vast breadth of knowledge and tell me that he can stop this racing freight train so out of control.  In my dreams that's how it will be but mostly he will say, he's seen sicker but at least for today, I am not alone.   This is our rescue wagon.    
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Saturday, March 24, 2012

The Spelling Bee

"Any illnesses?" the secretary at the optometrists asked me.  They always ask that expecting a simple 'no' for an answer.  In about 2 seconds, they are surely deflated when I tell them the kids' illnesses like Hashimotos Thyroiditis, Mitochondrial Disease, you get the picture.

"Ya, Shwachman Diamond Syndrome, I will go ahead and spell that for you if you want. S-H-W-A-C-H-M-A-N then DIAMOND like the stone, SYNDROME."
"And, is he on any medications?" Again, a bigger question than they are anticipating.
"Yes." I start reviewing all the meds Spencer is taking.
"Okay, let's start with the first one, can you say that again and spell it for me?" She politely asked
"Lialda.  L-I-A-L-D-A. Lialda."
"That was an L-I-O?"
"No. L-I-A-L-D-A. Lialda."
"Okay and the next one?"  Of course she struggled to still get the spelling right on the last one.
"Omeprazole." Right about now, I could tell her mind was about to blow.
"Alright, I'm going to need a spelling on that."
"Okay. Omeprazole.  O-M-E-P-R-A-Z-O-L-E. Omeprazole."  Now, I'm feeling like a spelling bee champ but truth be told, I had no idea if I was really spelling them 100% correct but I figure it really doesn't matter, this is the eye doctor and it's gotta be better the secretary's spelling.  The funny thing was, even when I spelled this word out slowly, she had to have me repeat it three times.  Everytime I tried to respell it, I got confused and had to resort to tracing the letters out on my lap.  I could see Spencer out the corner of my eye just shaking his head.  I didn't dare look at him for fear of breaking up into laughter.  I almost lost it but did a quick recovery by faking a cough.  Have you ever done that?

This is how the next 10 minutes went yesterday at the appointment.  Spencer takes a lot of meds and she wanted exact spelling on every single one of them so it took awhile and seriously, by the time it was done, I felt like I deserved a medal for spelling the hardest words for my age.  Spell Ondansetron.  Spell Creon....the list goes on.

So, bless her heart.  I think she was new and too bad she had to be learning the ropes with us.  It was so stinkin funny though.  I really need to start recording these moments because it gives us something to look back on and laugh.  And this right here folks....is why I have made a small card with all their meds printed on them then hard laminated.  It's easier to hand a nurse the card with disease names and meds taken along with the dosage.  I was in the process of updating the cards for Seattle so I didn't have them with me...bummer cause that would saved me from my epic performance!
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Thursday, March 22, 2012

Planet Mito

Thank goodness for my cyber Mito friends.  Tonight as I was scrolling through my emails, all 75 or so, my heart felt after so many moms who are at the same place in Mito as I am, moms who have just emerged from a very tumultuous and dark time and moms who have angel children watching over them.  I loved what one mom had to say to another who just got through a really tough time.

"You sound like you have arrived at the place I call the “Mitovia turning point”. It is the place where you decide to start facing forward rather than looking backward. It is the place where NOW is comfortable, where you have no control over what happens in 30 minutes AND where yesterday is a thing of the past."

Oh, how I wish I was already at this place!  I wish I knew this kind of turning point.  Somedays, I feel strong and ready to face forward.  Other days, I just feel stuck in a mire of problems that seem to have no end.  Sometimes, I don't worry about what's going to happen 30 minutes from now but what's going to happen in the next minute!

Tonight, we started the daunting task of writing down the list of all the worrisome symptoms.  I let the kids do this on their own so that I'm not swaying their list in any way.  I just want them to discuss the things that they worry about. I have my own list that I talk about.  Shelbie had a long list going and then handed it to me so I can type it up.  I scanned the list and she had been pretty thorough but then I noticed the last two entries on her list...
              Uncontrollable urge to dance
          Extreme Sexiness
Ahh, Shelbie.  I'm glad she could make light of the situation.  I asked her to demonstrate her symptom of uncontrollable dancing urges and just then Spencer piped up, "Ya and I have an uncontrollable urge to sing show tunes!"  Just then, he broke out into this chorus of singing that sounded like a real broadway song but he was just making it up.  Shelbie starting twitching her body around and was then dancing all over the room to Spencer's singing.  It was pretty funny!  What's scary, is I can really see these two doing this in front of the doctor but I'm not sure he would be amused. 

             
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Wednesday, March 21, 2012

Tales from the ER

       Shelbie ended up back in the ER Monday night...yes, again.  This time, it was pretty much my fault.  I got one of her medications mixed up, one for the meningitis pain, and gave it to her every 6 hours instead of every 12.  You are suppose to take it with food and I tried to get her to eat but she was so sick she wouldn't eat or drink for that matter.  I didn't pursue the issue.  I should have.  Long story short, her stomach is 'shredded' from the high dose of pain meds and ibuprofen.  In the ER, they had to give her a special cocktail that numbed her esophagus and stomach for 12 hours so she could get some relief from the extreme pain.
       Monday night, Sam came with me to take her in.  Usually, it's Spencer making all the jokes to keep the situation from drowning us in tension but that night, Sam was all over the comedy.
       To get the joke, you need to know the layout of the room.  Here's a sweet pic I took with my phone....
Here you see a door with a large window in it.  Beside it is another window covered in a blind.  First off, it makes no sense to have a window with a blind and door window without a blind. What's the point? 

     So, the door was closed mostly and everytime a nurse or the doctor would come to the door, they would stand at it and knock!  No kidding, they actually waited for us to say 'come in' even though they were standing there looking at us! 
     The first time it happened, Sam looked the nurse in the eye and said, "Who's there?"  I'm sure you had to be there, and maybe it was because I was so tired and frustrated but I could not stop laughing!    For the next 20 min, we carried on about that joke.  It was so funny that everytime they came to the door they knocked and waited for a response!  Strange. 
     Anyways, finally, I think the worst is over for Shelbie.  Aside from being dog tired, she is on top of the pain and discomfort. It was such a crazy night at the ER and I am glad that is behind us at least for another couple of weeks. 



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Sunday, March 18, 2012

Sunday Best

Sundays are the best day of the week.  It's a time to take a break from the craziness of the week and reload for the chaos that awaits. 

I love that fact that I can get my perspective back in line and start out the week fresh.  I am not very good at relaying the emotional stress associated with chronic illness, especially when it's my own story I'm telling but give me some stats and research, physical things and I can write on forever.  Sometimes, the emotions run so deep and become so complex, I can scarcely find words to describe what this feels like.  All I can say is that one moment you feel desperate and then next, empowered and then there's everything in between.   My job is to adjust my thoughts accordingly and somehow be able to transition smoothly, seamlessly and calmly between them all and keep the kids on an even keel despite all the ups and downs I feel as their mom.  That's not to say, they too don't have their coaster ride of chaos and then my job becomes even more important.  I have to be the shock absorber and that is so tiring and isolating.

Shelbie has hung in there this weekend until early this morning.  Since the early morning hours, I've been keeping her head wrapped in ice and trying to stay on top of the pain and nausea.  Hopefully tonight she will perk up and turn that proverbial corner. 

Spencer had a rough weekend with some new symptoms mixed in with the old.  Let's just say there's been a lot of dizziness, nausea, uncontrollable sweats, extreme weakness.  It just reassures me that going to Seattle this coming weekend is the right thing to do. 

It will be a busy, busy week as I try to get ahead of some work since I will be out of commission for a few days while we sort things out in Seattle. It will be a challenging week.   
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Friday, March 16, 2012

But...

The past few night have been so rough!  It happens now and again, the kids, Shelbie especially, starts questioning her time left on earth and I am hammered with all sorts of questions like how will I live without her, what if all the kids die at once, then I will be alone.  "What if all this talk of life after death is just a hoax?" What if... and but, but, but. It becomes exhausting and after nearly two hours of answering her questions, reassuring her that she is not dying, promising her that things will work out...she calmed down.  It's usually well after midnight before everyone is settled down for the night.  Thankfully, Spencer was backing me up with his comedic antics and trying to lighten the very, heavy, somber feeling!

Sam, out of the blue, spiked a fever this week and was miserable so all this talk of death and dying was not sitting well with him.  After getting everyone sufficiently comfortable, on the living room floor because they needed to sleep together, again...(The only reason we have bedrooms in this house is so they have a place to dump their clothes and shoes.  If I would let them, they would sleep together every night of their life.) I fell into bed myself. 

It has been such an exhausting week and in the mix is a ton of work I need to get done for all these little jobs I have acquired the past two weeks.

Looking at the events of the last two weeks, there is no doubt this has been a 'scheduled intervention' from Heaven.  I have gotten 4 design jobs in the last two weeks.  I thought, "Great, I almost have enough money to pay my bills without taking most of it from my dwindling savings."  I should know better than to assume I could actually get ahead.  Whenever I come into a little bit of money, some crisis or disaster hits and I continue to chase the dream of being self sufficient. On the other hand, I can see how God has prepared me for this and blessed me accordingly so I hardly have room to complain. 

Today, we sit in the hospital.  Shelbie's transfusion just got underway and she is resting comfortably for now.  Sam made it to school today though his cough is still pretty bad and Spencer is hanging in there.  The new Crohn's medication is actually helping him with his pain but the nausea is still hanging in there.  We did get some of the tests back and his lipase level is abnormally low and I have yet to find out what this means.  It's significant since he takes lipase in his pancreatic enzymes whenever he eats food so it's odd that it is so low.

This weekend, I will be swamped with work that needs to be done before we leave for Seattle so as they say...No rest for the wicked.





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Tuesday, March 13, 2012

Just in time

This past weekend has been so hard!  I've have worked so hard to be busy and not think about the pending tests on Spencer, the upcoming hospital stay for Shelbie and possible surgery for Spencer.  I have tried to remain aloof, just for the sake of sanity.

Monday, I didn't think I would survive the day.  Between worry and fatigue it was all I could do to stay present and do the needful things.  Today...I fell apart. 

I usually try to fall apart at night when the kids are in bed so they don't have to witness the fallout but one thing after another this morning just did me in.  By 11:00 I was struggling to pull myself together for a design consultation I had in just under an hour. 

Out of the blue, the phone rang.  It was none other than the nurse of our Neurologist in Seattle.  She had been thinking of us and wanted to call and check in on the kids. One understanding, listening ear was all it took for the floodgates of despair to throw themselves wide open.  Every bit of this mother's worry and fear spilled out through the phone.

Gently, she said, "This is really scary but we are going to take care of your kids.  You don't have to figure it all out alone." 

Oh my gosh, there are no words to describe the relief I felt.  She wanted to relay the information to the doctor then call me back with a plan which is what she did.  Even though there are no easy answers, there is a plan.  A plan I think we can live with but it won't be without a struggle.

The doctor wants to see the kids 'ASAP'  as in, this week but we really need to get Shelbie's transfusion done before I dare travel with her.  We are still awaiting the results of Spencer's parathyroid test.  Our Doctor has to be at a conference next week and so does our Oncologist so we will most like leave a week from Sunday but that will depend on if Spencer needs surgery to remove the parathyroid. 

Once we get to Seattle, the kids will all be having their bone marrow biopsies and a muscle biopsy.  The Neurologist and Oncologist will tag team so it can be done at once.  If Spencer needs the third surgery to remove his parathyroid, I am going to see if we can do that at the same time.  The nurse said that they will often save a piece of the organ and plant it in the upper arm so they are still getting some benefit of the hormone.  I have never heard of that before but sounds interesting.  If they decide they want Spencer to have his thyroid out before we go to Seattle, then the team of Anesthesiologists in Seattle will conference with the anesthetist here to make sure Spencer is getting the best and safest kind of medication to put him under.  In his current condition, the doctor is pretty anxious about the sedation used. 

While there, Shelbie will  have the tilt table test and other tests to see what can be done about her low blood pressure, falling and increased fatigue. 

In the meantime, the nurse told me we need to focus on clean eating and nutrition to avoid the possibility of feeding tubes.  Since the kids feel sick at every meal, they eat in between but just grab 'junk' and readily accessible food since I refuse to make 6 meals a day.  After school, we made a list of healthy snacks they can grab and we have banned the other crap they eat.  Tonight, I will go and stock up on those things that will help to support them and hopefully, the doctor will not feel like he needs to start feeding tubes. 

It's overwhelming to think about all this but I feel like a call from the blue was directed by God and just what I needed to help me get the kids back on track!  I am feeling relieved and blessed to have some help cause I just can't do this anymore.  It's been so isolating and lonely lately and while I don't want to drive to Seattle and deal with all the expense and missed school I know beyond a doubt this is what we need to do.  So, it's buckle up time and prepare for a wild ride!


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Thursday, March 8, 2012

Quick Update

It's late and I have never been so tired in all my life, okay, that's a lie, I'm always tired but I have another big and busy day tomorrow. 

Today, I am feeling slightly better about Spencer's situation.  I took Shelbie in to the Oncologist because her eye infection is back with a vengence and while there, I talked to him about Spencer and his elevated Calcium.  He said he would be surprised if it was a parathyroid problem and given all the metabolic abnormalities Spencer has, it could be his metabolic system causing problems- not cancer or even a benign tumor.  After he said that, I felt much calmer about things at least regarding him. 

Shelbie on the other hand is treading on thin ice.  The IVIG didn't work at all this last time and he said that can happen depending on what kind of immunity was in the batch she received.  She will be scheduled next week for another infusion.  Her white count was triple what it normally is and her neutrophils were also elevated which is good. Interestingly enough, her lymphocytes were up slightly too!  Those are the cells that were killed off a year ago with the chemo treatments.

They are still far from in the normal range but a change in the right direction nonetheless.  Her platelets are still normal but lower than usual which is another indication that the lymphocytes are coming back.  So, what does all this seemingly good news mean?  Well, if they continue to climb, her platelets will continue to drop and chemo will start all over again.  Basically, this nasty cycle begins. 

We also discussed the fact that Shelbie keeps falling down for now reason and gets super weak and can barely even stand.  There is nothing to indicate in the blood work that there is something off so if she hasn't improved a lot 1 week after her infusion, then it's off for a Tilt Table test. 

A Tilt Table is like a see saw.  They strap you down and begin tilting you up and down.  As this takes place, they monitor your heart and blood pressure.  He thinks she may have POTS- Postural Orthostatic Tachycardia Syndrome!  A disorder of the autonomic nervous system and as I understand it, a hallmark symptom of mitochondrial disease. 

I'm not holding my breath that things will turn around in a week and a half.  It has been getting progressively worse since last fall (no pun intended) and IVIG has had no bearing on the symptoms either way.  She has fallen down the stairs three times in the last two months and just fallen for no reason whatsoever at the store, in the living room, her bedroom, wherever many, many times.  Her dysautonomia has gotten worse as well and POTS falls in the catagory of Dysautonomia (inability of the nervous system to regulate body functions.)

There you have it, more than you cared to read I'm sure but this is the best place for me to keep track of things.  Regardless of the rough week we've had, I am feeling okay about things.  My frustration and fears wax and wane but as long as they don't park themselves in the middle of my life, I can deal with a few moments of white knuckles til I pull it together. 
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Wednesday, March 7, 2012

A tangled web

In keeping with the theme of our life, we find ourselves again in a bit of a mess.  We met with the surgeon bright and early this morning.  We went back and forth on all the possible diagnosis and we are still looking at gastric emptying disorder which means, his stomach, which is a muscle just doesn't contract and move food through which results in a lot of pain, cramping ,nausea and diarrhea which are all the symptoms we have been dealing with. 

Inflammation is still another possible problem, meaning ulcerative colitis or chrohns.  Then again, we could be dealing with irritable bowel syndrome but there is no real testing for that and most often the cause is an overreaction and sensitivity to gastric hormones.  To start the testing for any of them would be in the neighborhood of $5000.00 so he suggested we start the treatment he gives all his Crohns patients. 

We started a trial run of that this morning and will stay the course for two weeks.  If after two weeks we see no improvement then we start all the testing.  He is hopeful that this will do the trick.  I am still doubtful.  He said the effects should be fairly quick if it's going to work.  So far, today has been slightly better but he hasn't eaten since breakfast either so that explains that.

So, now for the tangled part.  As the surgeon reviewed the blood work from Monday, he noticed that Spencer's Calcium levels are super elevated...not good.  He said, "Wait a minute, we gotta run more testing to figure out what's going on, it's not good to let this go."  There is basically only one cause of hypercalcemia and that is a disorder of the parathyroid glands. 

Sheesh!! I hated to ask but I did anyway..."The parathyroid gland only gets hyper active when there is cancer present or a benign tumor right?"
"Right!" he said "And, interestingly enough, stomach pains and nausea, along with diarrhea and bone pain can be the prominent symptoms of hypercalcemia."

We had to go to the hospital late this afternoon for more testing.  We will find out next week if he will need surgery to explore the parathyroid glands and remove them.  What a mess!!

Thankfully, I had a day that was scheduled with meetings and jobs back to back.  I had about 10 min between cleaning a 6000 sq. ft. house and another job to run home and check on Shelbie then I was off and running again and now, at 9:00 just barely sat down so I haven't had much time to let my mind process everything. 

Now that I am mulling over all this news, it will be challenging to keep my head out of the worst case scenarios.  I just hope it can all be fixed. 
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Monday, March 5, 2012

Mother knows best

My prediction for how the weekend would go with Spencer in Boise was 100% accurate.  He came home yesterday afternoon and is one sick boy!  He came right in and collapsed on the couch gripping his stomach in pain and nausea.  They had to stop several times on the way home because he was so sick.  He was sick all weekend but just kept pushing through all the activities 6 boys on a road trip do. 

I filled him up with Pepto Bismal, Zofran, Nexium and some Pro Biotics.  This morning, he is showing no signs of improvement.  I took him in to our family doc and they ran some blood work but we are set up to see a surgeon and do further testing.  He will be tested this week for Gastric Emptying Disorder, Ulcerative Colitis or Crohns. 

I really have no idea what to expect.  Part of me thinks this is a mito problem so the gastric emptying disorder makes sense in my mind but I have learned not to project my ideas until all the testing is done and the results are in.

I will say I am pretty worried about what they find.  It's just been going on for sooooo long.  The worst diagnosis will be no diagnosis at all which means no relief for him.  I just want him to be able to eat and live without nausea and pain. It will be an interesting week for sure, not one I'm too excited to endure. 

On the heels of this little setback, we heard from Make A Wish.  They told me that Saturday Night Live is no longer allowing a live audience.  There's a slight chance they may open it up again later in the fall but that's a crap shoot.  So, it's back to the drawing board for the wish.   
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Sunday, March 4, 2012

Few and Far

There was a brief period of time, if you can imagine, when the episodes of illness and disease were few and far between.  It was a time when Shwachman Diamond Syndrome was more like a sleeping dragon and would only wake for a moment to stretch and blow a little steam but then settle back down. 

I realized last night, as I sat all by myself at Barnes and Noble that it is now the ordinary moments that only bubble to the surface of our life from time to time, bringing with it that element of surprise, a remembering of what life is like for most people yet for us remains elusive and miraculous when it happens. 

I was all alone, I mean the store was packed but I was on my own.  The kids were all off at various activities.  In three hours, I didn't get one text, one call, not one interruption from Mito or Shwachmans!  No one called to tell me they were going to throw up, or felt like passing out, had low blood pressure, a sore throat, headache or just felt generally ill.  No one had anxiety, panic or any other emotional issue.  It was uninterrupted bliss which I will admit made me feel a little nervous, a little guilty and a little grateful.  Those are weird emotions to feel all at once I tell ya. 

I spent hours flipping pages of business books, marketing books, writing books, memoirs, cookbooks, magazines and new nonfiction titles.  I drooled over all the lovely notebooks and organizers; my weakness in life.  Still, I waited for someone to need me, a call or a text but nothing came through. 

It was a strange night for sure but at the same time, a miraculous moment of ordinary.  So that's what ordinary feels like?  It's been so long.
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