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Showing posts from March, 2012


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 par…

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…


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 p…

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 …

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 co…

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 f…

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…

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 jo…


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, a…

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 t…

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 …

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 impro…

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 worrie…

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 a…