Friday, January 31, 2014

Plunder to the Thief

Don't know why for the first time
I feel like I don't want to write
Can't write this one
But at the same time know I need to
Need to dig it up
Stare it in the eyes
Scream at it
Cry at it
Before I can fight this fight

Everyone around me
Eager to dispense advice
On how to be cheerful
Be positive
Have faith
Be strong
And it isn't so much that they're wrong
Than premature

Grief comes first
Is healthy
When you deny me that
You lay guilt upon grief
Confuse emotions with rationality
And tear the wound a little more
Drive me further into me

Let me dig it up
Stare it in the eyes
Scream at it
Cry at it
Before I fight this fight

She's nine years old
With my wavy brown hair
Loves horses
Love writing
Above all loves to read
And carries a thief inside

He stole our innocent joy
The fist time we glimpsed her
In wavy black and white
Stole our celebration
the day she arrived
left mourning and fear
In his footsteps
Then for awhile, let us be

Now and then, snuck in again
And took another piece
Snatched her innocence
With every poke and prod
of examiners in white

Stole her ability to calm herself
Her pleasure to enjoy what others eat
The way her ankles should support her
The way her wandering eyes should meet

He stole her voice
Her self-expression
Left a stuttering, stammering tongue
That never seems to find the words
Before her audience
Has lost patience

The bandit snatched her liver
Left it swollen and scarred
Threatening to bleed
Marred her kidneys
Filters of life
Pilfered more foods
More medicines
More innocence
Left her thirsty
And tired

He stole her perception of satiety
Left her obesity
Raided the metabolism
That should bring energy
Left her lethargy

Stole her coordination
Ransacked her balance
Left her bewildered and sad
At the ease with which her peers
Ride bicycles
Jump rope
Play tag

He left her on the couch
In her world of novels
Where she could travel with ease
Left her living in encyclopedias
Where she could always succeed
He left her with books
Her greatest consolation

She is nine years old
With my wavy brown hair
Loves horses
Loves writing
Above all loves to read
And carries a thief inside

Ravenous, never satisfied
They say he will return
Return to take her sight
Slowly at first
Around the edges
Relentless, determined to leave her

I want to scream at it
Need to cry at it
Need to cry before I fight
Before I can tell her

I don't want your advice
I've heard of braille
Don't want your cheer
I've read of Helen Keller
You don't need to guilt me into faith
I know He's beside me
I never lost that
Just let me cry before I tell her
Let me grieve before I fight

Hideous pirate
Never satisfied

She is six
With her Daddy's blue eyes
When she giggles
They twinkle
And I wonder if she even knows
How much the robber has denied

She was peaceful
As he stole her health
Peacefully he snatched her speech
I wonder what he'll leave her with
When he comes to take her eyes

They tell me that the robber
With his ever roving reach
May have marked my other children
Though it seems
More mercifully

She's nine years old
With my wavy brown hair
She's seven
And ready for debut
She's six and peaceful
With her Daddy's blue eyes
He's four: he wants speed
And the little one's two

All I love in this world
Plunder to the thief

If you know me
You will understand
I know thankfulness
I know peace
You know that I will fight again
But if you love me
Let me grieve

In the morning
When the icicles drip
Thankful for the warming sun
When I hear giggles at breakfast
For the jelly-smeared faces
And the endless supply
Of four-year-old puns

I will remember
That today they read stories
Build blanket forts
Take by storm their therapies
Today they rob the robber
Tonight ride horses
If only in dreams

In the morning
When snowflakes quiver
To hold back the coming spring
I know that I will fight again
Just for tonight
I need to grieve

Bardet-Biedl Syndrome

I've been searching since Naomi was a newborn for a better diagnosis for her. For three years we were told she had Prune Belly Syndrome with her lax abdominal muscles, club feet, and messed up kidneys, but that never seemed to fit. Then we began to add diagnosis to diagnosis: sensory integration disorder, strabismus (crossed eyes), a heart murmur, severe stuttering, global developmental delays, problems with balance and coordination, missing adult teeth, social delays, liver fibrosis, and an inability to properly process many of the chemicals in the American diet, which led to chronic headaches and severe joint pain until I unraveled that mystery.

When Naomi was three, Emma was born and it was at this time that our new kidney doctor told me we were dealing with a genetic polycystic kidney disease, but which polycystic kidney disease was still unclear. The summer of 2008, when Emma was nine months old we flew to the National Institutes of Health in Maryland and were told the girls had an atypical variant of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis (ARPKD/CHF). They told me "We might not have the exact house number, but we're in the right neighborhood," with that diagnosis.

An atypical variant of ARPKD/CHF has been our working diagnosis ever since, but this never satisfied me either. The kidneys of children with ARPKD/CHF are almost always enlarged (at least at first, before they atrophy from renal failure), but my girls' kidneys had always been small. Most children with ARPKD/CHF have high blood pressure, especially by the time they reach the stage of renal failure that Naomi is in, but neither of my girls have ever had high blood pressure. And most other children with ARPKD/CHF develop typically in every other way, except for the complications of kidney and liver disease.

As Emma grew we dealt with chronic, recurrent ear infections, severe speech apraxia, more global developmental delays, and were told that there was a generalized slowing of all of her brainwaves on both standard and 24 hour EEG, called encephalopathy.

When Naomi was diagnosed with celiac disease, her diet was changed, and her intestines healed she began to pack on weight at an alarming rate. Further diet modifications and implementation of some healthy eating habits helped for awhile, but over the last year and a half it has been near impossible to slow Naomi's weight gain.

On top of this mystery: Toby was born with his right kidney small and stuck to the bottom of the left kidney, sitting like a backwards L in his abdomen; Hannah's kidneys are consistently measuring far too small for her age; and Elijah is dealing with persistent, mild anemia that doesn't want to improve with iron supplementation. Both Toby and Elijah have had horrendous chronic ear infections. All my babies were plagued with asthma, at least for the first three to four years of life.

And I wondered: What went wrong? Is there even one explanation out there for all of this, or is this a cosmic collision of coincidental conditions among my kids? But I seemed to be the only one who thought it mattered much. Naomi and Emma's current doctors felt that we could only treat symptoms as they arose, regardless of what caused them.

Until that changed, on Tuesday January 14th, we met Naomi's new kidney doctor at the children's hospital, in anticipation of the kidney transplant she will doubtless need in the next couple years. Dr. W reviewed Naomi's history and told me she was not confident in the diagnosis of ARPKD/CHF (for the reasons listed above). She was not questioning that Naomi and Emma have cystic kidneys and liver fibrosis, that much has been confirmed time and again on imaging studies, she wanted to look for a diagnosis that would better account for the whole clinical picture of what Naomi and Emma live with, and possibly for the abnormalities my other children have as well. Dr. W told me she would schedule Naomi to see a geneticist, and that they would send Naomi and Emma's blood to a specialist in Boston for genetic testing for a disease called Bardet-Biedl Syndrome (BBS).

I had heard of BBS before, and had looked into it briefly because this syndrome causes cystic kidneys, liver fibrosis, and many developmental delays; but at that time several of the main features didn't seem to fit my children, and I had dismissed it. I had read that BBS was characterized by obesity, and at that time Naomi did not struggle with obesity (I had no idea that it was undiagnosed celiac disease which had destroyed her intestines that was keeping the obesity at bay). About two-thirds of patients with BBS are born with extra fingers and toes, which also didn't fit my girls. And lastly, 100% of patients with BBS develop a retinal dystrophy that eventually leads to blindness. Five years ago, it didn't fit, and I was happy to cross that scary possibility off my list, and put it out of mind…until Tuesday, January 14th.

When I looked at Bardet-Biedl Syndrome afresh over the following days I realized it explained more of my family than any diagnosis before could come close to explaining. It is an extremely rare and complicated disease that can be caused by mutations in over 14 different genes, and the inheritance pattern can be equally complicated depending on how many and which mutated genes of that list each parent carries. If the mother carries two or three different mutated genes and the father carries two or three mutated genes, then the children could each be born with a different degree of illness, depending on the specific combination they inherited.

The following are the diagnostic criteria for BBS. Diagnosis requires four primary or three primary plus two secondary characteristics:

Primary features:
?  Rod–cone dystrophy
     (this is the degeneration of the retina in the eyes that often doesn't develop until the teen years, so we don't know about this yet)
-  Polydactyly
     (extra finger or toes, found in 2/3 of BBS patients, we don't have this)
+ Obesity
     (yes for Naomi, and Emma tended this way for her first three years)
+ Learning disabilities
     (yes for both girls, although Naomi is brilliant in ways, she also has her struggles)
-  Hypogonadism in males
     (they're not male, so this is a mute point)
+ Renal anomalies
     (obviously, yes for both)

Secondary features:
+ Speech disorder/delay
     (yes for both, Emma more severely, but Naomi's speech is disordered as well)
+ Strabismus/cataracts/astigmatism
     (Naomi has strabismus, Emma has astigmatism and myopia)
-  Brachydactyly/syndactyly
     (webbed fingers and toes, nope, but some lists add here "clinodactyly" which is a curling in of the fifth finger and toes, which all my kids have)
+ Developmental delay
     (yes for both)
+ Polyuria/polydipsia (nephrogenic diabetes insipidus)
     (this is extra urine and extra thirst, which is yes for Naomi only, but her case is quite severe)
+ Ataxia/poor coordination/imbalance
     (yes for both)
-  Mild spasticity (especially lower limbs)
     (no, but both girls have low muscle tone, which some lists also include here as an alternate presentation)
?  Diabetes mellitus
     (this one, like the rod-cone dystrophy, usually develops later in life, so we shall see)
+ Dental crowding/hypodontia/small roots/high arched palate
     (Naomi has dental crowding and hypodontia, Emma has small dental roots (which explains her teeth suddenly falling out) and a high arched palate so between the two girls we have all of these)
? Left ventricular hypertrophy/congenital heart disease
     (Both girls have heart murmurs, Naomi has a valve that sometimes leaks and sometimes doesn't)
+ Hepatic fibrosis
     (yes for both)

Between the two girls we have at least three primary features and at least seven secondary features of Bardet-Biedl syndrome, which is more than enough for a diagnosis. I will spare you the lengthy details, but the more I've read the more I am convinced that this syndrome fits. The specific kidney anomalies, the specific behavioral problems encountered, the specific speech deficits, the specific neurological deficits and coordination problems, all line up exactly with Naomi and Emma's diagnoses. Many patients also struggle with chronic asthma and chronic ear infections. Many require ear tube placement. Even more astounding is the fact that several studies found many siblings of BBS patients have milder manifestations of the disease, including several siblings who had missing or misplaced kidneys like Toby's. None of that is true of ARPKD/CHF.

I have mixed emotions over all of this, obviously. It is a relief to solve the mystery and lay my years-long search to rest, though I doubt I'll rest completely until the specific gene mutation(s) are found. There is some good news as well: only 5-10% of BBS patients reach end-stage renal failure. We know for certain that Naomi will, she is past the point of no return with her struggling kidneys, but this gives me hope that Emma, whose kidney function has always been completely normal, may not ever need kidney transplantation. This is the first time that hope has been offered to me.

But, sadly, there are so many more things that grieve me over this diagnosis, not least of which is the news that, if this diagnosis is accurate, we face the near 100% certainty that both girls will lose their eyesight in early adulthood, with an average onset of legal blindness by 20 years of age, and only a few patients making it past 30 with some preserved sight. I am trying to remind myself here that their gene mutations have not yet been identified, and that there is a possibility we carry a novel mutation that causes a BBS-like syndrome without the retinal dystrophy. It's possible, but I don't think it's likely. Some of the early signs of this retinal dystrophy are photophobia (fear of bright lights), which Naomi has had since day one, and myopia (near-sightedness) which Emma has had at least since she was three. Usually vision deteriorates around the periphery first, and slowly closes in over a decade or so until nothing remains. I have always had concerns about Emma's peripheral vision, and the changes are subtle and difficult to detect at first, even for an experienced ophthalmologist. You really need an electroretinogram to detect these subtle changes, something I'm hoping the geneticist will refer the girls for soon.

The mutations in the BBS genes cause mutations to several proteins critical for the proper functioning of many types of cells in the body: kidneys, liver, eyes, brain, heart, reproductive system, lining of the respiratory tract, and more. Without the proper protein functions these cells manage to function for awhile, but tend to die off early leading to progressive loss of function in the affected organs. Which means that we may be facing not only kidney or liver failure, but blindness, diabetes, and possibly (though less likely) heart failure, deafness, and more. Equally terrifying is the possibility that my other three children may be affected as well, even if much more mildly. There is something so comforting about a strictly "autosomal recessive" disease: either you have the disease, carry the disease silently, or you're not at all affected. But BBS is more complicated than that and siblings are often mildly affected. This could explain Toby's weird kidney, Hannah's small kidneys, Hannah's heart murmur, Elijah's anemia, and the chronic ear infections and asthma. But this obviously puts them all at risk of developing other manifestations of BBS later in life, which, even if unlikely, is terrifying.

Because research into this disease is so young, only time will tell. It will still be several months before we can see the geneticist, and up to six months after that before the mutations are identified. When Naomi and Emma's mutations are identified we may check the other children as well. Dr. W surprised me by saying that of my three other children she was most concerned that Hannah may have a form of this same disease because of her very small kidneys. And so we wait. And I think that is the hardest part.

So there it is: my very cold, factual detailing of Naomi and Emma's likely new diagnosis, and how that changes the outlook for our entire family's future. I've been digesting this more quietly the last few weeks, but decided I might as well come out with it. Given the amount of time it could take to confirm the genetic mutation, it didn't seem like a good idea to try to wait for that, and it would be nice to feel like the people around me understood what I was going through in the meantime.

My next post will be a poem I've been working on, more of the emotional side of all of this. Thank you all for reading and caring.

Wednesday, January 22, 2014

Pencil to Paper

Tucked inside the remains
of a hand-hewn farmhouse
Cloaked in pines
Dusted winter white

After the frenzy
Of obligations
Has sifted and settled
Drawn down
By the sinking western glow

I put pencil to paper
Like a toddler
Peering at her dinner spoon
Hoping to see a bit of herself
Even if upside down

In the dim yellow light
Of a shop-class lamp
Amidst perpetual piles
Of next week's projects
I sort the thoughts
That will not flow
In conversation

Gratefulness, wit
Charity, humor
These drip into speech
As hydrogen
And oxygen
Down from ice needles
Laced on pines
Under January sun

So lightly these
Flit from lips
They rarely plead
to find expression
in the delicate selection
of pencil to paper

Tucked inside
The upstairs room
When my children
And my joys
Are sleeping
I quietly, gently
Unwrap my soul
Lift out the heartache
And wait for words
To wrap it more beautifully
In something outside of me
And lighten my load
Before sleep

Groping for language
To set these sentiments
In crafted silver
To fit their worth

Stitching emotions
Phrase on phrase
Embroidering sorrow
And grief
With hope

As brush to canvas
As fingers to strings
Or keys
I weave words
Not for despair
But for humanity

When at last I perceive
Myself in braided verse
I rest my hand
My heart
Aching tamed
Leashed by voice
Of pencil to paper

When my light goes out
And my head lies down
Even the snowflakes
On the ancient pines

Saturday, January 11, 2014

For the Love of a Stinkbug

I have girls. They love all living creatures. They want to care for, to name, to nurture something living--apparently anything living.

I have held a firm "no pets" stance from day one. I've explained that in this house we are caring for five children and that there are no extra resources with which to nurture animals. I've explained that I like animals, I even like pets, but that pets are extra work and cost extra money, neither of which we can afford. The girls understood, but nothing could shut off that nurturing instinct.

It began last summer. They had a brilliant idea that they could catch a pet for free, keep it in a habitat they designed themselves, feed it what they found in the backyard, and keep it a secret from their mother. They whispered and plotted. They snuck shoe boxes, toilet paper tubes, and plastic zip-shut baggies. They worked for hours with scissors and scotch tape and came up with some very impressive habitats for small beings. Now all they needed was something to live inside.

The searched the backyard for ants, spiders, and june bugs. They enlisted the expertise of a twelve-year old neighbor boy. And, much to my dismay, they succeeded in catching some creepy-crawlies. Eyes wide with excitement, they transferred the doomed subjects to their exquisitely crafted death-row boxes, loaded up with grass, leaves, and tiny bottle-caps full of water. But, try as they might, their pets never thrived. Most escaped through unforeseen cracks in the infrastructure, a few died of malnutrition, and one poor fellow drowned in his watering hole.

Disheartening as this was to the girls, they did not give up. With the fall came the influx of stinkbugs from the local apple orchard. The brown marmorated stink bug is a pest, imported from abroad, that is now swarming the US. They are icky, stinky, pesky little creatures, that seemed to pop up all over our house this fall--much to the delight of three little girls: an endless supply of pets!

After capturing their first stink-bug, appropriately named "Stinker," Naomi pleaded with me to research online what she should feed him. Reluctantly, I googled "stink bug" and made Naomi read all about how these pests were destroying the ecosystem around us. She didn't seem to mind that, but was delighted to find that her darling bug enjoyed apples.

Stinker was kept for days in a styrofoam and plastic enclosure, given a hand-crafted tiny blanket to cuddle with, and fed a diet of apples. Unfortunately, Stinker was attempting to hibernate for the winter and was less than rewarding for the efforts, but that did not dissuade Naomi and Hannah's loyalty to him.

I watched from afar, and sighed. Finally, I broached the subject with Matt. "Do you know the girls are keeping a stink bug for a pet?" I asked. "Do you know he's named Stinker, sleeps on a hand-stitched bug-sized blanket, and holds the hopes and dreams of our girls in his tiny, smelly body?"

"That's really sad," he sighed.

Then the words snuck right out of my disbelieving mouth, "I'm starting to consider getting them an actual pet. Maybe it would be good for them to pour their energy into something a little more rewarding. Maybe a hamster or a gerbil? What do you think?"

"I don't think we should rush into it," he replied wisely. "Let's see how it goes with the stink bug."

I'm not sure what Matt was hoping would happen with the stink bug, but eventually Elijah ripped the cage apart and Stinker disappeared. His loss was briefly mourned before another habitat was constructed and another poor chap was captured.

"His name is Soldier," Naomi announced to Hannah with a note of sadness in her voice. "He was so brave… He lost two legs trying to run away from me."

"You broke two of his legs off?!!" Hannah yelled incredulously.

"I didn't mean to, Hannah!" Naomi retorted, "It just happened."

From the sidelines. I sighed again, and wondered…

Then came Marble-rock, then Vase, then Dessert Pattern, and I wasn't sure whether to weep for their broken hearts or vomit in disgust, but either way I knew I had to put an end to this.

Actually, once I settled in my mind that they could in fact handle the responsibility of caring for a gerbil, and that we were really going to do this, I began to feel a little giddy with the excitement of surprising them with a real pet. I could hardly wait for Christmas this year.

I researched gerbils on the internet, shopped behind the girls' backs, and stored the supplies in the basement, where they were forbidden to go. Gerbils came highly recommended by all sources as playful, social, gentle critters, active in the day, and easy to care for.

Instead of overwhelming the kids with this on Christmas morning, I decided to buy the gerbil three days before Christmas, and present it to the kids on Monday morning, December 23rd.

I drove to the store and picked the prettiest, healthiest-looking critter while Matt put the kids to bed. I left her happily nestled in her new home in the basement and went up to the kids' room to tell them about the surprise coming tomorrow.

"Daddy and I have decided," I began, "that getting all your Christmas presents on one day is a little too overwhelming. So we're going to let you guys open one big present for all the kids tomorrow. It's something you can all enjoy together for a few days while you wait for Christmas."

Naomi, Emma, and Toby were ecstatic with excitement, but Hannah scoffed. "It's a puzzle," she stated dryly. "I just know it is. I don't really like puzzles."

"Well…in a way it is sort of puzzling," I answered, picturing the kids opening the gerbil supplies and wondering what they were for.

"I knew it," Hannah sighed. "I don't even care."

I laughed at her characteristically unstable attitude, twinkled my eyes at her, tried to assure her that this is one puzzle she might like, and tucked the kiddos in bed.

The next morning, everyone but Hannah was excited. They rushed to eat breakfast, get dressed, and make their beds. When we finally let them tear into the box, a silence fell over the crowd. They sat and stared at a box that read, "Hamster Haven," and wondered what this might be.

"Oh, look at that!" Matt teased, "A really big stink bug house."

They laughed uneasily, and wondered.

The next box they opened contained a small food dish. Elijah pulled it out and announced gleefully, "Look! A new that!" They also pulled out gerbil food, a hideaway stump, and an exercise ball. Smiling nervously, and furrowing their brows, they looked to Matt and me for answers.

"What in the world is that stuff?" I asked.

"Well," Matt began, "we saw how much you guys loved keeping stink bugs, and then Mommy found a really big one. So we thought you might need some supplies to help take care of it.

More nervous giggles erupted. "You're teasing, Daddy!" they assured themselves as I slipped away to the basement.

Words fail to describe the delight on their faces when I emerged from the basement with their new pet gerbil. Saucer eyes, and hushed voices huddled around the cage and adored the new addition. After a moment or two words began to flow so fast from Hannah's mouth that I could never record them all here. It was something like:

"Oh! Thank you! Thank you! Thank you!! I can't believe it. I can't believe you actually got us a real pet! I can't believe I have a gerbil now! I've dreamed about having a real pet like this, but I never thought, never ever thought you'd really let us have one! … I don't really have a gerbil. No. This is just a dream. I know it is. There's no way I actually have a pet. Nope. I'm going to wake up and I won't have any real pet…except a stink bug…but I'm going to enjoy it now. I'm going to enjoy this dream! Even though I know it isn't real. I like dreaming that I have a pet gerbil. She's so pretty. She's so funny. She's so cute! Ow! My neck is really hurting because I keep pinching myself to wake myself up, because I know this isn't real, but I don't wake up. I can't believe you actually got us a pet gerbil!!! …"

That wasn't even a fraction of what I heard that day, trust me, I was just happy she kept breathing. Naomi and Emma enjoyed the gerbil more quietly, with sparkling eyes. Toby and Elijah were ready to rip into some different Christmas presents within five minutes. It was decided that the gerbil was named Lilly, and she seemed happy to join our family. She eagerly investigated her new cage, rearranged her bedding, buried her food, sniffed the air, nibble the carrots the girls fed her, played in cardboard tubes, and generally behaved like the world's most rewarding pet ever.

Lilly's been with us now three weeks and the girls continue to clean her cage, feed her treats, and stock her up with an endless supply of toilet-paper tubes for chewing and playing; and they continue to be grateful for her. This morning when Hannah found a stink bug in the house, she promptly and voluntarily carried it to the back door and dumped it outside.

Mission accomplished.

Thursday, January 9, 2014


There was a time when ambition
Surpassed hindrance
When I perceived not obstacles
But hurdles
When I glibly lept without a look
Much to my husband's dismay
And either landed well
Or laughed at not
But always savored the glide

There were never so many dirty diapers
or so many sleepless nights
That vitality could not match demand
Never more meals to make
Than stamina in my arms, or in my heart
There was a time when I saw blue
Through any wool-coated sky

When at first I slammed head-long
Into Fatigue
That could not be cured with rest
Or a cup of coffee
I groaned
Rolled over
Laughed at the blue above me
And waited for it to pass

I lay and waited
And watched the wool wrap away the blue
Then saw my children's faces around me
I bid myself to stand
On clumsy feet
I prodded heavy arms
To cook, to clean, to hug
Because they needed me

I asked advice
But more often
Met misunderstanding
And decided it less painful
To stop asking

I pushed harder
Have to cook
Have to sweep
Have to bathe them
Have to shop
And waited for it to pass

And began to loathe
What I had once loved
Each necessity a test of endurance
There was nothing left
For walks
For the park
For the beach
For laughing
Nothing left
And I began to hide

I reveled in January
because less was expected
Curled into my corner
Clasped the coffee mug
That never energized
And began to believe that white
Was all the expanse above me
Had to offer

Once from where I lay
I heard a girl speak of the beach
As if it weren't exhausting
As if the extra packing
The extra cleaning
The extra carrying
Were no obstacles at all
As if her arms and legs
Obeyed without protest
As if she glibly jumped hurdles
And either landed well
Or laughed at not
But always savored the glide

And where I lay
I wept
But always smiled
Always smiled
Because weeping
Won't wash dishes
Won't cook meals
Won't buy groceries

Then in anger flew at the hurdles
And mostly landed on my back
Not laughing
Then curled back into my corner
For days
Then narrowed my eyes
Flew again
Lay flat again

Curled up again

And stayed

Thursday, January 2, 2014

A Tentative Diagnosis: Myasthenia Gravis

Last spring I wrote about how I'd been feeling unwell, about how I had my gallbladder removed, and about how I'd hoped that that had taken care of most of the problem. I wrote in May about taking more time to rest, and about feeling better. And for a while that seemed true. I wanted it to be true. I wanted with every ounce of my being to be healthy again.

But then June came. My young helper left to go overseas for the summer. I was supposed to be all healed up by June anyway. And the very first week I was slammed. The girls had swimming lessons daily, and a dentist appointment, and a doctors appointment, and I got the phone call to tell me that Naomi's kidneys were failing. And I suddenly felt very, very weak again. When I was offered the management position, it seemed the worst thing for me, and yet the best. In a way it was invigorating…for awhile anyway.

I haven't written much about my exhaustion and weakness because I don't want to sound like a whiner. I don't want to pander after pity. And mostly, I don't want people to think I'm crazy. I don't want them to talk to me about how I must be depressed (which I'm not), or just plain overwhelmed (not that either). I don't want them to tell me I haven't been spending enough time reading my Bible (while this may be true, I highly doubt it's the cause of my weakness). And I find it even more exhausting having to explain myself over and over and then defend myself from well-meaning, but unhelpful advice. I decided not to say anything very publicly unless I had a diagnosis to announce.

I wrote in June and July about my emotional struggles with Naomi's kidney failure. I wrote about the challenges and successes of managing a mobile home park. I posted some pictures, and preserved a few memories, but mostly I didn't write. I didn't write because I didn't feel inspired. I felt exhausted. I didn't feel creative, or lively, or funny, or authentic. And I didn't suppose people would like to open up my blog and read "Man, I'm tired." Day after day.

But I want to write again, and I want to be authentic. And I can't stand going any longer telling people I'm fine because I figure it will be too much work to explain my weird symptoms to them. I want to put it out there now, and then feel like I can move on and write about other things, or go to church, or go to family gatherings and not have to explain myself. So here it is.


I don't regret having my gallbladder removed. I don't miss it one bit and it did take care of some of the abdominal area issues I was having. I think it was a part of the problem, but probably a very small part in the end. When I go back and read again my account of When Mama Goes Down about my first little break-down in March. I realize that the fatigue and weakness that paralyzed me in March, came back in full strength about September. And then it got much worse.

The chest pains came back, then shortness of breath to the point that my breathing muscles would ache some days from straining to get enough breath. Inhalers didn't help at all. I wondered if I was breathing well while I slept, because, though I slept soundly, I woke feeling horribly achy, stiff, and tired each morning. My arms began to feel extremely heavy, like they were carrying weights. It was hard to lift my hands long enough to brush my hair, or wash dishes, or even keep them on the steering wheel to drive. It was hard to make it to the top of the stairs. And then, the most scary symptom yet, my neck began to fatigue very rapidly when I drove. After two to three minutes of driving my neck would suddenly give out on me and I would find myself trying to drive with my head leaning back on the headrest and my arms lying on my lap, one finger on the bottom of the steering wheel.

That was when I told myself, "This is nuts. People don't just lose the ability to hold their arms up, or walk up a single flight of stairs, or hold their own head up long enough to drive to the store, no matter how tired they are, or overwhelmed. This is clearly very abnormal. Somebody has got to be able to find the cause for this."

So I went back to my family doctor, who had already sent me to a cardiologist, and a hematologist, and a surgeon, and for two CT scans, and an ultrasound, and a ridiculous amount of blood tests, and who was ready at a moment's notice to prescribe antidepressants, and I begged for another referral, this time to a neurologist.

Dr. N. took me seriously and found signs of increased fatiguability in my shoulders and thighs--I wasn't able to hold my arms up against his push for more than a few seconds, or hold my leg up against gravity very long at all. He brought me back the next day for an electrical test called an EMG to check on my muscles and nerves. My nerves seemed fine, and my muscles seemed fine. Then he checked something that I didn't know existed: my neuromuscular junction. He did a test called a repetitive nerve stimulation, which showed that my muscles only responded well to the first few nerve stimulations, and then the response rapidly dropped and did not improve. This "decrement on RNS" is very close to diagnostic for a neuromuscular disease called Myasthenia Gravis.

Myasthenia Gravis is an autoimmune disease that attacks the neuromuscular junctions in many muscles but it has a preference for neck, shoulder, thigh, and breathing muscles--the exact muscles I am experiencing extreme weakness in. It classically attacks young females around my age. It can be exacerbated by overactivity and emotional stress. At this point it is a very probable diagnosis. Yet, two blood tests failed to show any of the two types of antibodies commonly associated with MG. About 10% of MG patients fail to show either antibody, these MG patients are termed "double seronegative." So it certainly isn't impossible to have MG without detectable antibodies, but it makes the diagnosis more tricky. My neurologist is not comfortable with treating me until the diagnosis is firm.

I will be heading to the only neuromuscular specialist in the midwest who could see me before April on January 17th. It is a five hour drive from home, but as my condition is getting worse, I don't think it is safe to wait until April. He will be able to perform a more specialized nerve test called a single-fiber EMG, which can definitively diagnosis Myasthenia Gravis, whether or not any antibodies are found in the blood work.

At this point, I have a hard time imagining he won't diagnose me with MG. If he doesn't I might just have to crawl in a hole and die for lack of better options. If he does diagnose me, while the disease can be very grave, it often responds well to treatments, and would actually be the first hope I've had in a long time. Medications can suppress the immune system destruction and improve the function of the neuromuscular junction. Often a surgery is done to remove the thymus gland, which lies in the center of the chest and is supposed to shrivel away to nothing by middle adulthood, but often becomes large and overactive in people with MG. It lies in exactly the spot that I have been complaining about chest pains for 9 months now, and may possibly be the root of my problems. Many people go into remission from MG several years after having their thymus glad removed.

If I am diagnosed, and can begin getting treatment, I may soon be feeling much better. If I am not diagnosed, I'm not sure what I'll do. At any rate, I am now dependent on a thick u-shaped neck pillow to hold my head up for me when I drive, and sometimes when I sit at my computer, or sit down to watch a movie with Matt. My head feels so, so heavy all the time, and my neck feels sore and fatigued and longs for relief. I finally ordered myself a neck brace this week, just so I can wear it around the house and get some relief. It may get to the point where I need to lean on a neck pillow or wear a neck brace in church, or at the store, or with friends, which is part of the reason why I'm writing this blog. I want to be able to wear it if I need it and not have people asking me if I was in a car accident or wondering if I'm just out to get attention.

I believe I have Myasthenia Gravis. I am growing increasingly weak. I can push myself to get work done if I really need to, but it exhausts me for days to come. I am not lazy. I do not like not being able to work, but I just can't right now. My house is messy because holding my arms up long enough to wash dishes, or vacuum, or carry laundry, or cook meals is very difficult right now. Last week I couldn't hold the jar of spaghetti sauce over the pot long enough to scrape it out with a rubber spatula. Having both my arms elevated at that level for more than a few seconds caused me breathing problems, and my arms just dropped. I had to call Matt in to dump the sauce in the pot for me and stir it, while I put my head down on the table and rested. I am not imagining or creating this situation. I am not exaggerating or looking for attention. A good nights rest or a few days away will not cure it. Whatever the diagnosis, I am in need of real understanding, real care, and real treatment.

So there it is. That's my story for 2013. I am hoping that 2014 includes a diagnosis and some measurable improvement. Thanks for listening to my story. If you seem me wearing my new neck brace, or leaning on a u-shaped pillow, just smile and let me know you care, or that you're praying for me. And now that that's out there I hope to be able to blog about much more exciting things: like the fact that I actually caved and bought my children a living creature for Christmas. Hannah nearly fainted. I'd love to tell you about it sometime. Maybe next time. But for tonight I need to rest.