Friday, December 19, 2014

Dr. You Can't Handle the Truth

I spent ten and a half years wishing I knew what was wrong with my children: ten and a half years dealing with chronic disease that had no genetic explanation, being blindsided by new symptoms that doctors occasionally accused me of making up or blowing out of proportion, spending frequent late nights researching and reading internet articles either in the attempt to pinpoint the genetic condition or at least find ways to alleviate some symptoms. We flew to conferences, even flew to the National Institutes of Health for a week and had our girls checked by the best of the best. Their conclusion? "Eh, we're not sure what's up with your kids, but you know, their diagnosis is close enough."

Okay, that wasn't a direct quote from them, but it was the gist of it. They only problem is that their current diagnosis wasn't close enough, leaving far too many symptoms unexplained and not properly treated. They promised more testing, and I signed the consent forms, but they never came through with it. Funding was cut when the national budget was slashed, or so I heard. They stopped answering e-mails. And I was on my own again.

I spent ten and a half years wishing I knew what was wrong with my children, but now that I know, now that I've had 6 months to let it soak in, I've realized something: maybe I wasn't ready for that news ten and a half years ago.

I was a tender twenty-two years old when Matt and I went to that first ultrasound, from a family that had no hint of genetic illness or birth defects of any kind, from a school system that kept the different kids safely locked away, from a society that kept the unique people out of sight and out of mind, because we all felt better that way. Just the mention at the next appointment that something might possibly, possibly be wrong with my baby's kidneys threw me into a world of emotions that I had no idea how to process. Babies can have kidney disease? What happens to them? Can they treat it? Do they die? What will her life be like? What will my life be like now?

Do you know what never, ever entered my mind at that point? I never even considered that kidney disease might not be the only problem my daughter would face. And do you know what I've realized now? That was enough for me to process at that time. God knew that. And he is merciful.

At her birth we learned she had clubbed feet. Clubbed feet and kidney disease were enough for me to handle after delivering a new baby. Within the next year we learned she had a unique and challenging personality and general developmental delays. That was more than enough to deal with then.

Naomi's kidney doctor kept us purposefully in the dark. We resented it at the time. He never used the words polycystic kidneys, even though I caught him writing it as a diagnosis in his chart once, instead using more general words like chronic kidney disease around us. He would never give out more information, but would instead say, "She's fine for now. Take her home. Enjoy her. Have a good Christmas together." Matt and I would joke that his motto was, "You want the truth? You can't handle the truth!" We still call him Dr. You Can't Handle the Truth.

And as angering, and I still believe wrong, as it was for him to do this to us, maybe, … maybe we couldn't have handled it then. Maybe at twenty-three years old, as a new mom, I didn't need to know that I would one day have two girls with chronic kidney and liver disease, general developmental delays, autistic-like traits, severe speech problems, heart murmurs, endocrine abnormalities, metabolic differences requiring special diets, a life-long propensity towards morbid obesity, and retinal degeneration leading to blindness.

It's difficult to know whether I'm angry or thankful that it took ten years for my girls to get a correct diagnosis (and only then because I took matters into my own hands), or whether I am thankful that I didn't get handed the diagnosis of Bardet-Biedl Syndrome as a twenty-two year old mom at a first ultrasound so many years ago. I would have been petrified. The news was hard enough to absorb in stages.

At the Bardet-Biedl Syndrome conference this June they discussed how the average family waits ten years for a proper diagnosis and how unacceptable this is--how better eduction of physicians and better testing need to improve this. But as I think about it, I am undecided.

Would it have been better to have immediate answers for strange symptoms and immediate access to specialists and testing? Would the worry and frustration that a correct diagnosis relieved outweigh the enormous burden of knowing sooner about the many facets of this syndrome that were completely out of our control? Would I have worried over hairs that I couldn't add to my head and inches that I could not add to my height? Would I have over-protected my kids and not pushed them to keep up with their peers? Would I have been brave enough to teach them how to ride bikes, calm enough to sign them up for soccer, and stern enough to discipline their easily-excusable behaviors?

I used to be livid when doctors suggested that we had enough information on our daughters to care for them at that time. I still think it was wrong for them to be laissez-fare about my girls' care. It is their job to gather as much information as possible because they do not know what information they may find that would make a real difference. Had we known sooner, I think both girls would have been enrolled in more rigorous therapies from an earlier age. I could have gotten a jump-start on monitoring their diets and their weights more closely. And I certainly could have saved thousands of hours of computer research. But in the end, maybe we were all better off for not knowing.

We didn't know enough not to treat them normally, and while that sometimes put unrealistic expectations on them, it also made them into two tough, determined little girls. They are relatively healthy, they are active, they are happy, and when we finally got the BBS diagnosis it wasn't quite the polar-plunge shock it would have been ten years ago.

Sometimes I wonder about the burden placed on young, new parents by routine ultrasound and readily-available genetic testing. Sometimes I wonder if it's better not to know everything all at once. To this day, I'm not sure if I would rebuke Dr. You Can't Handle the Truth, or thank him. Maybe some of both, because in the end, after the diagnosis has been made and the dust has settled, you know what I've come to? We're going to take them home, enjoy them, and have a good Christmas together.

Maybe Christ was right that my heavenly Father knows what I need. Maybe there was wisdom in his teaching recorded in Matthew 6:34, "Therefore do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough trouble of its own."

December Night

I shoo them towards beds
Longing for a time when the patter of feet
The shouts and yelps
And last trips down the stairs
Quiet at last

Give them each a hug and kiss
While they whisper excitedly to each other
About the early presents
That a kind soul gifted them today
One wants to tell me what she named the puppies
(Very original I'm so impressed)
Another that she lost the shoes for Snow White Barbie
(We'll find them in the morning, I'm sure)
And another that she's planning to sew a stuffed zebra
(That's really creative, dear. Have fun tomorrow)
And then I have to kiss them again
Because they were so busy talking
They don't remember the first one

Slightly impatiently
I kiss more quickly this time
(Pay attention, I'm not coming again)
And scold the littlest
Who can't seem to remember
That he belongs under blankets

Turning off the light
Is the relief of locking up the office
(Or maybe the animal shelter)
And stepping into the fresh air

But they ask for the ladybug
That makes the star pattern shine on their ceiling
And while I sing an ancient hymn
They find constellations in the stars
Even the one who will never see stars again
Not in this life

And we sigh together
And we sing together
Caught in the solemn space
Between gratitude
And melancholy

Closing the door
The little one begs for Silent Night
The song we've sung 358 times since last Christmas
The girls groan
But I oblige
Feeling now that I wouldn't mind lingering
Under the constellations
In the calm and the bright

And when I finally creak down the stairs
To the muted sparkling colors
And the six flickering candles
One in each front window
To cheer this dim little neighborhood
When I finally breathe
I wish that I had given them
One more round of hugs
And maybe one more verse
Of Silent Night

Tuesday, December 16, 2014

Liana Comes Home

After I wrote my last blog and posted it on Facebook, I was surprised by the number of people urging me in messages, e-mails, or phone calls to adopt the cat that Emma had fallen in love with at the humane society. I considered it, then dismissed it…then considered it again.

I asked for advice, looked at the cost, considered the obstacles, and finally decided to bring it up with Matt.

"No," he responded flatly, "the last thing we need is more responsibility right now."

And in a way he was right, so I dropped it for the night. But in a way I felt he was wrong, and so I brought it up again the next night.

"What if we kept the cat in the basement?" I suggested. "I could clean it up and fix a nice place for the cat. Then it wouldn't ruin our furniture or shed all over our things, and the allergens would be confined to one place if Hannah should have a reaction to it. Plus, … it might catch the squirrels down there."

We have been plauged with an infestation of pine squirrels ever since we moved into this house four years ago. They come into the house through the basement via holes they chew around the old window frames. Then they climb into the walls and even the attic. We have trapped and either killed or relocated eight squirrels and yet, with both pine and walnut trees surrounding the house, more squirrels are always lined up to fill the vacancy.

I think it was the suggestion that having a cat in the basement might finally, finally solve our squirrel problem that peaked Matt's interest most. He said he'd think about it.

After a few quiet moments I concluded my case with, "When was the last time Emma asked for something?"

We both said nothing for a long while because neither of us could remember anything Emma had really wanted before.

Hannah wants things with her whole entire heart at least once a week. Hannah begs loudly, weeps bitterly, rejoices with every fiber of her being, and often has "the worst day ever" and "the best day ever" on the same day. But Emma is the wallflower of the family. She quietly blends into the background of every day life in our house. Sometimes she tries to pipe up only to be out-shouted by four siblings, and I see her face drop and her sentence trail off into thin air because she knows it's no use to keep speaking.

Ever since Emma could toddle she has followed Hannah: going where Hannah goes, saying the phrases Hannah says, playing what Hannah coerces her to play, preferring what Hannah convinces her to prefer. She has tried to assert her independence before, but Hannah is usually very quick to keep her colonialized sister believing that she is happier under the benevolent leadership of such a wise sister as herself.

So when Emma, of her own accord, latched her whole little heart on this cat and dared to whisper, "I wish we could keep her." I just decided that maybe we had better move heaven and earth to make it happen. And after a few days' thought Matt agreed.

------

I looked through the humane society's website searching for that special cat and realized that the one Emma loved was not Lila after all. Lila was the name of the cage-mate to Emma's cat, who was named Liana. She was 2 1/2 years old and had been brought in as a stray the previous December. She had been in that cage in that noisy, smelly room for ten months. It was time to make a home for her.

I spent two days deep-cleaning our basement: throwing away things I realized I'd never use again, taking piles of boxes to Goodwill, sweeping and sweeping again nooks and crannies that hadn't seen a broom in forty years. The kids just thought I'd decided it was time to clean.

That Saturday morning, four days after Emma and Liana had met we told the kids that Mommy and Daddy were taking Emma out on a date and we dropped the rest of the crew at Grandma's. When Matt and I were alone with Emma in the van we told her that we thought she might like to show Daddy the cat she had seen. We didn't tell her that we were considering adopting the cat until we could see how they would interact. The staff put Liana in a meet-and-greet room with us where Liana was obviously spooked at first, and understandably so. But patient Emma sat so quietly and talked so sweetly that Liana finally made her way over and began to play with the toys Emma offered. We knew then that things would be OK.

"Emma," I asked, "Do you know why we came to see Liana today?"

Emma had been listening as we talked with the staff about the potential adoption and her eyes brightened. Grinning sheepishly she ventured, "Because we might adopt her?"

"Would you like to adopt Liana?" Matt asked.

Emma smiled brightly and nodded. And so we applied to adopt Liana, but we would have to wait a few days to pick her up.

When we got back to Grandma's house we let Emma gather the other kids and make the announcement. "We went to the humane society," she said, "and we're going to adopt Liana!"

The other kids looked confused. They knew that wasn't right. Silly Emma, they thought. But looking to me, I nodded my head in confirmation.

"What?!" Hannah said. "You're letting us have a cat?! What?!! Really?? This is the best day of my life!"

The next few days were filled with hair-raising anticipation. We went on a kid-led shopping spree for cat supplies and spent hours arranging everything just-so in the basement. We hoped to bring Liana home on Monday but there had been a pile of adoption applications turned in just before ours and we ended up having to wait until Wednesday before everything was in place. The girls had a dreadful time waiting, but we filled the evening by wrapping yarn and sewing carpet scraps around poles in the basement so Liana would have a nice place to sharpen her claws. We even building a cat tower together. "I like working together," Hannah said. "She's going to be so happy here."

--------

Matt happened to be off work the day we finally adopted Liana. All the kids were spilling over with excitement when we picked her up,


and when we introduced her to her new home.


Liana was nervous, but made her way methodically around the basement, smelling all the smells, locating her food and water, and meeting the people. She eventually hid under a shelf and we let her stay there while the girls took turns quietly reading a book in the basement and waiting for her to come out. After several hours she ventured out and began to relax around us. Then the fun began.



She spent most of the rest of the day playing with the kids and following us around like a puppy, even coming when we called. No one wanted to leave her in the basement and go to their beds that night, but we told them they would have plenty of time to play again tomorrow.

After Matt tucked the kids in, I heard a sound in the basement like a box falling underneath me. Liana had not left the ground the entire day--no jumping on chairs, counters, or anything--so I was surprised to hear some activity.

I went down to investigate and called Liana's name, but there was no response. She had been coming running to us before so this was really odd. I stopped the dryer so I could listen and called her again. I heard two very faint meows and then nothing again. I looked and looked and looked like I have never looked through that basement before. That cat was nowhere. I even opened the two doors to the canning cellars which were used as storage rooms and were locked and peeked inside them, but couldn't see her in any of our boxes. She was nowhere! She wasn't answering me any more either. I went upstairs and told Matt. He came down very worried right away because this was so unlike her. Just then the furnace kicked on and we both got really scared.

Our furnace is a huge, cast-iron cauldron from the 40's. Tucked in a corner behind the furnace and the water heater was a heat vent. I got a light and laid on the ground and found a cat-sized opening in the bottom of the vent that I hadn't known was there: one end led into the furnace and one end into the chimney. Matt ran and shut the furnace off. We opened the door and looked inside with our hearts pounding. She wasn't in there--thank heavens. We ran outside and looked at the chimney. No cat out there.

We went back to the basement confounded, but somewhat relieved and called her again and again. As I was crawling on the floor looking under boxes again I thought I heard purring. The canning cellar door was purring at me! I opened it up and Liana jumped out and attacked me with love and cuddles. We just about cried with relief. It took us a good five minutes to figure out that Liana had jumped up on a workbench, then up on a window sill, then onto the ledge under the rafters and walked on that ledge behind a shelf, over the wall to the canning cellar room and had jumped onto the pile of boxes in the other room, which was the noise I heard, where she was trapped. Why I didn't see her the first time I opened the door, I have no idea, she must have been behind boxes.

We wired mesh over the opening in the heating vent right away, glad that we had found that. While we were doing that Liana disappeared again! This time she had found that we had left the door at the top of the stairs open and she was exploring our living room.

We took her to the basement where she refused to leave our sides and we realized she had been looking for a way to get up to her people upstairs when she fell into the canning cellar room. She wanted to be with us. I asked Matt if he wanted to sleep in the basement. He went and got Naomi and Hannah (Emma was already asleep), who were more than thrilled to do that job. They bedded down with sleeping bags, giggling hysterically as Liana pounced on their toes under the covers. Liana stretched out beside them contentedly when we shut the lights off.

From what I heard neither Liana nor the girls got much sleep that night. Liana was too excited to finally be in a home with people and toys and adventures to be had, and the girls were too excited to finally have cat to play with. Everyone was so tired the next day that Liana had to learn to sleep in the basement herself after that.

------

Liana has been in our family for six weeks now and we have never regretted adopting her. The girls visit her first thing when they wake up. They find her sitting happily in her window, watching the squirrels play outside--where they belong. She hasn't caught a squirrel yet, but her mere presence has been enough to deter them. At first we heard them in the walls less often and now it has been weeks since they've ventured inside.

All the kids have enjoyed hours of playing with the cat and the girls have all had hours of snuggling her. She loves to jump in their laps and lay there purring while they stroke her and sing to her or read her books.



And while Liana is certainly not exclusively Emma's cat, Emma has had a few special moments  of bonding with her that have been priceless to witness.




I don't think Emma could have picked a better cat, and I think we have many happy years of cuddling ahead.

Wednesday, October 22, 2014

A Day in the Eby House: A Purple Closet, a Warm Trailer, and a Calico Cat

8:00am

I'm vaguely aware of Matt crawling out of bed, and I remember that I didn't pack his lunch last night. Toby slips into the room, sits on the foot of the bed and asks, "Is my new Planes water bottle clean yet?"

I remember that I forgot to run the dishwasher last night and promise Toby that I'll run it this morning.

Elijah is in the room now, wondering when I'm going to make his oatmeal, and also pondering the deeper questions of life. "Why is this called a closet?" he asks. Without waiting for my response, he adds, "Santa Claus can live in here. And it's purple." So that settles that.

I roll out of bed and clunk down the stairs sleepily. "Mommy?" Elijah asks.

"What, sweetie?"

"Oh…I'm too busy," he shrugs. Right. Why did I bother him, anyway?

Picking up his lightsaber and a doctor's kit bag full of tools he stole from my kitchen tool draw, he yells, "I'm riding my nermaltodder! Morsey! Don't! Or I'll bite you!"

I leave Elijah to fight his disobedient nermaltodder while I pack Matt's lunch and make breakfast in the kitchen.

10:00am

We are fed, dressed, combed, and ready for another day. The girls are settled into their school work, and the boys are pretending in their room upstairs. I slip up the stairs with a basket of folded laundry in time to overhear Elijah announce in a gruff voice, "I'm a big tough man! I can build a big bridge with water!"They boys eagerly set to work, and I head back downstairs because sometimes in the raising of boys, ignorance is bliss. Whatever they're doing, we'll pick it up later.

Emma greets me with a proud, sweet smile, "Mommy! I already did my Bible Reading and my math!" I  praise her, and then check on the progress of her more easily distracted sisters. Hannah is cuddled under blankets beside her favorite heating vent, trying to hide the stuffed puppies she was playing with while pretending to work math problems. Naomi has gotten lost in her new geography book, which she finds too interesting to put down in order to complete any other school subjects.

The doorbell rings. It is a tenant who is behind on lot rent. He's come with a partial payment, explaining that his construction job only gave him 20 hours last week, and asking if he can get me the rest in two weeks. I ask how his wife is doing, because I know she is recovering from surgery that they also don't have the money to pay for, and we work out a payment plan.

12:00pm

I realize the two loaves of bread I made yesterday have already been mostly devoured. We have three slices of bread for lunch. I dig through the fridge and find enough leftovers to feed everyone and set them out on the table.

"Mommy, there's a lady at the front door," Hannah tells me.

I find a new tenant there, who doesn't know yet that most tenants use our back door, where the doorbell is located. She is wearing two coats and a hat. She asks if I can help her figure out why her heat isn't working in her new trailer. This is not part of my job description, as she owns the trailer and only rents the lot, but I smile and say, "Sure." Hannah knows what to do. She gets the walkie-talkies and gives one to me as I put my coat on, keeping the other for herself. She holds Elijah back as he screams when I leave.

I find that the thermostat in the new tenant's trailer needs new batteries, slide the battery compartment out, replace the batteries, and the heat comes on. She shouts a loud praise to the heavens, gives me a hug, and thanks me profusely. I smile as I jog back up the hill to my house.

Inside, Naomi and Hannah have dished up the leftovers and the kids are sitting down to lunch. I ask if they've remembered to pray. Toby asks Elijah, "Jonathan, do you even know how to pray? I know you're a big, strong construction worker, so I don't know if you know how to pray."

I wonder briefly where Toby got the idea that construction workers don't pray.

1:00pm

I drag Elijah to bed, protesting all the way that he doesn't need a nap. I tuck him under three blankets to weigh him down and rub his cotton cloth diaper beside his face slowly. He yawns. It gets him every time. He pouts a little more so I pretend that I'm going to leave. "I want a song!" He calls, "Sing me Holy Night." He means Silent Night, and no, he's not early for the Christmas season. This has been his favorite song since last Christmas. We sing it almost every day at nap time. I sit on the foot of his toddler bed, smile, and lean down to rub my nose on his. He giggles. I sing slowly, quietly, and run my hand along his forehead. He closes his eyes and yawns again. He knows when I am leaving, but he is too sleepy to protest.

I put bread mix in the two bread makers again so we are sure to have an easy dinner tonight, and I start the dishwasher so Toby will stop pestering me about when his new water bottle will be clean. Several exciting rounds of laundry follow.

2:00pm

"How do you spell 'water'?" Emma asks. She is writing the eighth page of a story about a horse and a fish in her journal.

"What do you think?" I ask. "It's spelled pretty much how it sounds."

"W-h-a-t-t-e-r?" she guesses.

Analyzing her guess, I conclude that water is not spelled the way it should be.

Hannah asks if she can write a research report on Collies. I tell her that that is a fabulous idea and point her to our 1972 edition World Book Encyclopedia set, because I figure Collies can't have changed that much in 40 years, and because every kid should have to look up facts in a World Book when they're in 3rd grade.

Toby finishes copying the whole alphabet in upper and lower cases. This is a serious accomplishment for the child who was in tears at the idea of holding a pencil and moving it while it contacted paper just two months ago. I reward him with a clean Planes water bottle, which he refuses to let go of for hours.

4:00pm

Homeschool is complete, dinner is in the bread makers, Elijah is up from his nap, and I have an unusual amount of energy and ambition for this time of day. When Toby asks me if we can go somewhere this afternoon, and Hannah dreamily wishes we could visit all the puppies and kitties at the Humane Society, I am amazed at my own reaction. Why not? Let's go.

After Hannah nearly faints, but covers her mouth so as to not annoy me with her incessant excitement. We pack up the diaper bag and head out. A stern speech reminds them that we are not getting any dogs or cats any time in the near future because we live in a house that we do not own, and dogs and cats are not allowed in this house (which is very fortunate for me), but that we can enjoy the animals and brighten their days a little by interacting with them.

Toby doesn't know whether to cover his nose or his ears when we enter the room with 40 barking dogs in cement cages. He is ready to leave 0.5 seconds later. I can't hear a thing Hannah is saying as her mouth moves, which is almost a relief, but it's clear that she's in love with the tiny pomeranian snuggled up beside the front of the cage, soaking in her strokes. Elijah is preoccupied with the cement door propper, which apparently doubles as a stool and a rocking chair.

Naomi and Emma have found their way to the cat rooms. Naomi enjoys looking at the pictures and names of the cats on the wall and matching that info up with the cats in the cages. She plays with a white kitten who likes to bat at her finger.

All the children find an animal that they like most of all, but Emma breaks my heart with her complete loyalty to an old, quiet, calico cat name Lila. Emma spends the entire hour we are there sitting beside Lila's cage. Emma and the cat quietly look into each other's eyes. The twenty other cats in that room meow and reach their paw through their cages like prisoners rattling the jail bars. But Lila silently lifts her head and gazes into Emma's eyes. Emma gazes back with compassion, with understanding, and after a few minutes the old calico cat reaches her paw out toward Emma through the bars. Emma holds her hand out flat and Lila's paw rests on it gently. And there they sit for an hour.

I watch the kids from the hallway as the make their way in and out of the five different rooms full of animals. The other kids greet all the cats, watch the bunny nibble hay, and pick out favorite dogs. But Emma does not budge. I kneel down beside her and ask, "Is that your favorite cat?"

Emma nods her head silently, and quietly admits, "I wish we could keep her."

In that moment I wish with everything in me that I could take that cat home. At any moment of the day Hannah is completely in love with a random anything, and I have no problem rolling my eyes at her, but Emma is different. Emma rarely sets her heart on something, she almost never asks for anything. I think of all the stories I have heard about therapy animals that special needs children bond with, and how those animals sometimes have a way of helping these quiet, special souls find their way in the world. And I wonder to myself what a cat like Lila might do for Emma. I can't find it in me to tell Emma that we have to go home, so she sits beside Lila and whispers quietly to her until the staff come and turn off the lights. My heart hurts for Emma as we leave.

I dole out generous globs of hand sanitizer, and we head to the van in the brisk evening October air, our ears still ringing with the barking of 40 lonely dogs. My ears ring all the way home with the chatter of four excited children, who can't stop talking about their favorite animals and all the funny things they were doing. In the rearview mirror, I watch Emma silently stare out the window the whole way home.

7:00pm

We have a late dinner of warm buttered bread, and warm sandwiches. We clean up a day's mess, including every mega-block, wooden block, waffle-block, and soft block that went into the giant bridge construction in the kids room.

8:00pm

Daddy's home! Hugs, kisses, spinning in the air, and a dog-pile ensue. Toby wants to wear his favorite camouflage shirt to bed tonight. Elijah wants to wear his fireman rubber boots to bed. Sounds like suitable sleepwear to me.

9:00pm

The kids are tucked in bed. I tell Matt about Emma and Lila at the Humane Society, and that I almost wanted to bring that cat home. Matt has had a stressful day and reminds me that there's no way we would want a pet on top of five kids. He reminds me that they have a gerbil. I want to tell him that Naomi talks to the gerbil, not Emma, but I let it drop.

We sneak ice cream cones from the back of the fridge and watch a movie together, hoping the kids don't come down the stairs to use the bathroom and catch us eating gluten and dairy. We have been known to hide ice cream under a blanket in such situations.

11:00pm

I lay in the darkness and the silence, and wonder why Elijah thought Santa would live in a purple closet. I wonder if the new tenant is warm in her trailer tonight. And I wonder what our lives would be like with a calico cat name Lila.

Saturday, October 4, 2014

Ebenezer's Morning

A cloud was hung over my daughters
From before our eyes could meet
Placed by pictures and tests that defied explanation
Called fear of the unknown and grief for what will be

Sometimes receding, sometimes overtaking us
With each failed milestone, foreboding test,
Or shaking head of a medical giant
Biding us brace ourselves against the darkness

When yet again we met in a room
A doctor sighing with sorry eyes
Placing one more crushing boulder
Onto their surreal pile of diagnoses

We felt again that chocking cloud
Overshadow their every smile
Ominous above their achievements
Looming fear of the unknown and grief for what will be

In my grief I let myself be led
To wander down the path of what will be
Along the way I stopped to mourn each fear
The pain they face, the joys they'll miss, rejections they will meet

I mourned the life they would not live
When they lost the sight I could not save
Mourned the magnificent battle ahead
And wept at last over two small graves

And weeping there I realized
I longed above all to see their smiles
To wrap my arms around them safe
And tell them I had cherished the joys
And had not mourned their lives away

Then waking from grief's spell to hear their giggles
I nearly wept for joy, like Ebenezer's morning
There was time yet left for them to live
And time for me to heed the portent's warning

Then ominous grey cloud slunk back to grey horizon
Looming fear of the unknown, aching grief for all that's sad
Now overpowered by a greater fear
The grief of wishing I'd savored the life they had

I lay and smiled in morning's welcome light
And slowly filled my lungs with summer's warming air
And listened to the joy I'd almost missed
The sounds of girls pretending drifting up the stairs

I rose to set aside the endless sandbags
Meant to hold the ocean with my leaking dam
Dusted off our bathing suits, smiled down at them,
Then laughed together, jumped in, and swam

Sunday, September 28, 2014

To Hold the Time

On Skyview's hill
Under battered pines
By golden corn
Brushing autumn's skies

I hold my son
Who would like to know
Why there are blinking lights
In the dusky blue
Why the ash tree is gone now
Why he can't touch the moon

We are happy to sit here
He and I
Where I once rocked him
To close the night
On Skyview's hill
Under battered pines

He is only delighted
To hear that the corn
Will soon be gone
That today's cool breeze
Will turn to snow
That Christmas will come
That he will grow

His ocean blue eyes
Twinkle as we talk
And I ache

Ache to hold this evening
And his pudgy toddler hand
And to never forget
His shining grin
When he lifted his eyes
To the dusky blue
And asked why he couldn't
Sit on the moon

"You'd need a spaceship"
I replied
"Where are they?"
He asked
And I could only smile
Into those ocean blue eyes
And together we ached
He for the moon
And me for today

We are happy to sit here
He and I
On Skyview's hill
Under battered pines
By golden corn
Brushing autumn's skies
Happy
And aching
To hold the time

Monday, September 22, 2014

Sister School

I watched out my kitchen window today as Hannah scampered up the branches of our magnolia tree. She shimmied out to the end of a branch that hung five feet off the ground, then shimmied back and gestured for Emma to do the same. Emma nervously, clumsily, made her way up to the branch. She stood on it shaking, clinging to another branch. She peered down at the ground as if it swirled below her, and then she looked back to Hannah, who was taunting her now.

"Come on, Emma!" Hannah goaded. "It's easy. You saw how easy I did it. Just climb out!

Emma narrowed her eyes and slid one foot along the branch below her, never loosening her grip on the branch above. She made that one step, then changed her mind and slowly climbed down from the tree. I didn't hear what Hannah was taunting because I was on my way out the door, livid.

I found Emma sitting on the back step, with her head in her hands, hiding the tears. Hannah's mouth was still dribbling with something about Emma not being a daredevil, when I yanked her inside and slammed the door.

"What is wrong with you, Hannah?!"I laid into her. "You know Emma doesn't have the same balance as you! She doesn't have the same coordination. She doesn't have the same eyesight. You know that, and instead of encouraging her, you are making her feel ashamed that she isn't like you."

Hannah's eyes welled up with tears. "I forgot," she whispered, "I just wanted someone to play with me."

I turned away from Hannah then, back to the window, and there I stood silently watching as Emma made her way back into the tree. She had steel determination on her face this time. I wanted to save her, wanted to tell her she didn't have to be like Hannah, but then she slowly slid her way several feet farther on the branch...and smiled.


I realized then, something my subconscious had known for awhile, that so much of Emma's abilities are due to Hannah's constant prodding and coaching. Hannah has, in effect, been Emma's physical and occupational therapist. She has not always been the kindest or the most gracious in her efforts to coax Emma along, but Hannah's need for a playmate and Emma's desire to keep up with her sister has created a remarkably effective program of intensive therapy for Emma.

Every day Hannah pushes Emma's abilities and nearly every day Emma's eyes fill up with tears. Had it been up to me I would have consoled Emma long ago and set her on the couch where she was safe and comfortable. I know I would have. I don't want to see her struggle. Yet the most amazing thing happens in Emma nearly every day: she doesn't choose the couch. She climbs back up on the tree and tries again.

Hannah has been coaching Emma on increasing her endurance--pushing her to run faster and farther during recess, timing her and cheering her on, and chastising her when she gives up. And do you know what has happened this summer? Emma's endurance has increased--remarkably so.

Hannah has set up obstacle courses and made up games where they time each other running over and around obstacles. I want to yell that that's totally unfair for Emma: she doesn't have the same eyesight! But do you know what has happened? Emma's agility has improved--remarkably so.

This fall, I wanted to tell Emma's soccer coach about her genetic syndrome, so he would understand why she was clumsier and slower than the other kids, but I held off. And I have been put to shame. Do you know what has happened this soccer season? This:



And this:

And this:


To my amazement, Emma is one of the better players on her team. There is no genetic explanation for that. The best explanation I can come up with is this:


And maybe some of this:
(Never mind that you're terrified right now, Emma, you're going to like this.)

And this:
(See? You're having fun!)

Today I turned back from the kitchen window to a heartbroken Hannah and told her, "Emma's up in the tree again. Go tell her what a good job she's doing. She needs to hear you tell her that she's doing a good job."

"OK, " Hannah smiled, "I will."

You should have seen the smile on Emma's face when she did.

Tuesday, July 22, 2014

The Summer When Energy Found Me

This summer, even amidst the grieving, something wonderful has happened in our family: my energy has begun to return. I still don't feel great, but I can say confidently now that I feel much better, better than I have in about three years.

This seems to coincide exactly with what the neuromuscular doctor told me to expect with the CoenzymeQ10 supplement: to notice improvement in about two months, with full benefits felt around six months. I've been taking CoQ10 for about three months. After six weeks I noticed the brain fog beginning to lift. My thinking felt clearer, less like I was moving in slow-motion and more like I was witty and ambitious again.

Within another two weeks I began to have short periods of time where I actually felt energetic, like I could wash the dishes and put in a load of laundry without needing a nap and a cup of coffee in between. It would only last an hour or two at first, but the energetic periods slowly became longer and more frequent.

Then I noticed that my legs actually began to feel like a weights had been taken off of them. Have you ever done the little slumber-party game where you stand in a doorway and press the backs of your arms out as hard as you can against the doorway for one minute, then when you step out of the doorway your arms begin to float upward? That's how my legs felt, like I was walking with so little effort now that they almost lifted too high, like the slightest amount of force made them just float upward now. I wondered if I might be able to lay on my back and raise a straight leg upward now, something I had been totally unable to do in December, and to my amazement my leg flew up with hardly any effort at all. I've been galloping through the grocery store lately (OK, not actually galloping, but it feels like it compared to the way I used to drag myself through stores last winter), and running up staircases for the fun of it.

About three weeks ago I noticed another completely foreign feeling: waking up feeling refreshed, like I'd actually had enough sleep, like I wanted to get out of my bed and do things: clean the house, take the kids to the swimming pool, or teach Toby to ride his bike. In fact, I've felt energetic and ambitious long before having that cup of coffee I used to cling to. And, at least in that way, it's been the best summer in a long time.

I got a pool pass for our family this summer, and we've gone now more times than I can count. Hannah apparently can hardly recognize me as her mother. When I told the kids we were going swimming for the second day in a row a few weeks back she gasped with wildly excited eyes, "Swimming again?! You've got to be kidding me!"

This summer:
-Hannah and Emma learned how to swim
-Naomi has grown to be quite a strong swimmer
-Toby learned to ride a bike
-Elijah has learned to play in the backyard and obey the boundaries I've set up for him
-The girls learned to make rubber band bracelets and set up a busy shop in our backyard where they sell  all sorts of rubber band accessories to the neighborhood kids.
-All the kids have made friendships with neighbors
-I took the four older kids bike riding on a nature trail while I attempted to keep up with Elijah in a stroller
-We took a week's vacation to visit my family
-We went to the county fair
-All four kids are on separate soccer teams, which means we have practices and games almost every day of the week.

And I'm actually enjoying it all. It's been really amazing to feel alive again. I remember how much of a struggle it was just to get up and get the kids out the door last year at this time, and how much I loathed any extra activities for that reason. I remember the dismay of knowing that no matter how many hours of sleep I got I would never, ever feel better. I remember the fear that something was seriously wrong with me when my arms and neck began to actually give out on me. And I am so grateful to be on the other side of those feelings.

I still get tired, but it's a much more normal tired, the kind that comes after a long day of activity and disappears after a good night's sleep like it's supposed to. I still struggle with weakness in my arms and neck, but even that is finally improving. Yesterday and today I have begun driving short distances without the help of my neck pillow--yes, holding my own head up against the movements of the van--and I'm able to do it for about five to ten minutes now, which is a great improvement.

All of this adds to the collision of emotions I've had in the last month: so much grief over the new BBS diagnosis, but so much happiness over the return of a good deal of energy and ambition. I've feel like this summer I want to give my kids the best summer they've had yet, to make sure that it is full of happy memories, and I feel that I'm achieving that goal and enjoying doing it, even with all the grief mixed in alongside.

Emma's endocrinologist called me today to tell me that Emma's enlarged thyroid is due to autoimmune thyroid disease, the same as Naomi has, but that her thyroid function actually looked a little better on this last test so she won't be put on medication right now--we'll just have to watch it closely. She also told me that Emma's hormone tests show that Emma's adrenal glands are definitely acting as if they are in puberty and Emma's pituitary is showing borderline high hormones as well--not scary-high levels or treat-it-right-now levels, but "we need to watch this closely" levels. Emma will be having a brain MRI in October to see if there's anything abnormal, such as a cyst in her pituitary gland.

On August 4th I will be taking Naomi and Emma to see a pediatric ophthalmologist to begin the process of assessing the condition of the girls' retinas and watching their degeneration, an appointment I am simultaneously anxious for and dreading.

But today, today they are well. Today they are "healthy." Today is what we have. So you know what I did today? I took the kids to the pool and we had a glorious time. Naomi passed the pool's swim test and got up her courage to jump off the diving board, then decided it was so much fun she jumped off ten more times while we laughed and cheered her on. This is an amazing accomplishment for a girl who three years ago couldn't stand the feeling of any water on her face.

Tonight we went to soccer practice and had a lovely time there as well watching Toby ham it up in front of all his new friends. I'm so glad that I am now able to give this kind of day to my kids, and I'm hoping to do it again tomorrow.

Monday, July 14, 2014

Bravery

I watched you tonight
In the golden evening
Surrounded by girls
Leaner, stronger, faster
And I saw in you strength
Those girls will never have

I watched them flit with ease
But you concentrated
With you whole being
They glided
You fought
They never tired
You tired
And ran on

Girl after girl showcased
The reflexes of a gazelle
You took a ball to the face
And chose to stay
In the line of fire
Even when reflexes failed you

They danced on ankles
That have never turned
Your ankle betrayed you
For the thousandth time
In your short life
Leaving you behind
Yet again

When I saw the tears well up
When I went to meet you
You sighed
Wiped your eyes
Stood up
And began your plans
To practice harder at home
That's when I knew
You were stronger
Than all of them

I watched you tonight
In the golden evening
Beauty
Courage
Determination
And my greatest sorrow
Was knowing the others
Didn't see it

I wish that I could gather them up
Players, coaches, parents, fans
Wish I could explain
Everything you had overcome
To be where you are
Wish I could give them eyes to see
Your bravery

But I stood silently
And marveled
And thanked your maker
That out of those twelve girls
You were mine

Thursday, July 10, 2014

The Ache

I wanted to come out fighting when we were told our girls had Bardet-Biedl Syndrome. I wanted to be the mom who makes the best of a bad situation.

I took notes like a madwoman at the BBS conference. I didn't miss a session, or a word. I came home on a mission. I e-mailed doctors and more doctors. I checked into insurance coverage for specialists. I marched myself into the special education headquarters and talked with their director to find out how to get the girls the best educational opportunities. I wanted to fight. I wanted to be thankful for what we have and hopeful for the future. I didn't want to ache.

But somehow the ache has found me.

And I've realized that it's better to meet the ache, to give it a long look and a deep sigh, to unchain it and acknowledge that it lives here now--not just an occasional visitor, or even a frequent guest; this ache is a part of my story now, a part of me.

The ache finds me as I watch my kids play in the backyard: Hannah and the rest of the neighborhood running circles around Emma, who waits patiently to join in the game.

It finds me when the nurse asks Emma how she's doing today and Emma stares back blankly, not sure what the nurse is asking; and when that nurse interprets her blank stare as mental disability, gives up talking to Emma, and talks to me instead.

The ache wells up when Emma runs into a pole on her left side at church, her sister on her right side that evening, and falls flat on her face tripping over a curb five minutes later. She cries that she didn't see the curb as I wipe her knees. And now I know. I know that she didn't see it. And it breaks my heart.

I am heartbroken.

The ache finds me when she gets up, dusts herself off, and smiles again. It wells up when she giggles.

I ache when she comes grinning with her hands hidden, "Mommy, geh wuh I ha behine my back! (Mommy, guess what I have behind my back!)" and reveals three droopy dandelions with all the pride her heart could muster. I kiss her forehead, find the perfect vase, send her back outside, and I ache.


I don't ache from despair or because there's no hope; I don't ache because there's no beauty left in life. I ache because there is so much beauty and so much sadness all woven together in our life now. And as far as I can tell language fails for that emotion.

Watching Emma makes me ache like a sunset, full of mournfulness and grandeur all intertwined; like a wolf's howl on a still night, so haunting and yet breathtaking that you don't cry or smile, you just stand, and stare… and ache.

If you see me fall silent at one of Emma's soccer games this summer, staring quietly at her while she swipes for the ball. Please don't tell me that everything will be OK, because you and I both know that in a way it will and in a way it won't. Just stand beside me, and if you want you could whisper, "It's like watching the sunset, isn't it?"


Thursday, July 3, 2014

To Whisper to the Dark

I came tonight
To where the crescent moon glows
In deepest blue
Over brightest copper
Behind the dark outlines
Of age-old pines

I came because here
Nothing has changed
When everything has

I came to watch tiny lights bob carelessly
Over the rising grasses
And listen to the lonely train whistles
Miles away
And to breathe again

I was a little sick to my stomach
As we drove to that quiet room
Knowing it was coming
Yet shell-shocked when we left
Despite all efforts to be prepared

I was too busy to feel much
Too much to learn
Too many people to meet
Sandwiches to pack
Hours to drive
Holding my breath
Until now

I came tonight
To where the crescent moon glows
In deepest blue
Over brightest copper
To breathe again

Today I fought for them
I scanned reports
I e-mailed specialists
I knocked on offices
Today I put my hands to boulders
And my axe to trees
To clear a way for them
But tonight I came to breathe

To let out the ache
That begs for air
To lift my eyes
To the depths of the universe
And whisper that this hurts

I've come to sort emotions
Tangled beyond recognition
The grief from hope
The relief from sorrow
The immeasurable pride
At the maturity with which
She's taken this news
From the horror that any ten year old
Should have to be so mature

I came tonight to watch the grasses
Lit by the streetlight
Long after the sky is nothing but dark
To let the ripples settle a bit
From the latest stone
Tossed into my heart

Today they rode bikes
In the golden evening
Eyes bright
As if nothing had changed
And I can't decide whether that
Is beauty
Or tragedy

I came tonight
To where the crescent moon glows
In the deepest blue
Over the brightest copper
Behind the dark outlines
Of age-old pines

Because here nothing has changed
When everything has
I came to let out the ache
To whisper to the dark
To settle the ripples
And to breathe

Sunday, June 29, 2014

The Diagnosis that was Ten Years in Coming: Bardet-Biedl Syndrome

Ten and a half years ago Matt and I sat bewildered when our OB told us that our prenatal ultrasound showed our little baby girl had unusually bright kidneys. We began our search for answers ten and a half years ago, but all we found were more questions, that is, until last Thursday.

Naomi was born with club feet, a distended abdomen, and kidneys that functioned poorly. She grew into an intense, demanding, and draining baby, and then toddler. Then her eyes crossed. Then we were told she had a heart murmur. When our third daughter, Emma, was born with a similar condition both girls were given the diagnosis of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis, called ARPKD/CHF for short, and we added the concerns of liver disease to our list of diagnoses.

We learned everything we could about ARPKD/CHF, but were still left with questions. Children with ARPKD/CHF have kidney and liver disease, but do not normally have crossed eyes, heart murmurs, and general developmental delays (unless it is delays from long hospitalizations due to illness). My girls had multiple neurological problems including: difficulties with balance and coordination, severe stuttering, severe speech apraxia, slowed mental processing times, eyes that were overly sensitive to light, nearsightedness, and decreased white matter volume on brain MRI. These problems, the experts told us, were not a part of ARPKD/CHF and must be purely coincidental.

We were told we knew for certain that the girls had a "ciliopathy," meaning a defect to a gene important for the proper functioning of the cilia (or tail-like structure) on many cells of the body, and that ARPKD/CHF was the one ciliopathy they shared the most features with. When Naomi began to struggle with obesity that no doctor could explain to me I had had enough. I researched every ciliopathy that had been documented so far in human history, looking for clues. What I found both shocked and scared me. I found Bardet-Biedl Syndrome (BBS).

BBS is also a ciliopathy that can cause polycystic kidneys and liver fibrosis, but can also cause a host of other conditions in children, including problems in almost every system of the body. It can cause neurological and developmental delays, it is often associated with severe speech problems, it can cause heart murmurs, crossed eyes, social communication issues, sensory-processing problems, and autistic-like traits. It can also cause morbid obesity. These findings were almost a relief to me: we had these issues already so finding a cause would have been a cause for celebration if it weren't for the main symptom of BBS: retinal degeneration inevitably leading to blindness.

I brought my findings up to several doctors who told me with certainty that my daughters did not have BBS. These doctors thought you had to be born with extra fingers and toes to have BBS (in actuality only 80% of patients with BBS have extra fingers and toes). They told me my girls weren't obese enough to have BBS, (but they wouldn't take into account that Naomi had had celiac disease for the first six years of her life and I had worked very hard to control the obesity after that). They told me that my girls would be mentally retarded if they had BBS (a very common and unfortunate misconception made by doctors who didn't understand that slow mental processing time is not the same as being stupid). And so I let the idea rest for awhile.

Last January, with Naomi's kidney function worsening, we saw a new nephrologist (kidney doctor). She told me with in no uncertain terms that my girls did NOT have ARPKD/CHF. Their kidneys were small instead of enlarged, and their blood pressure was not elevated as you would see in ARPKD. She believed their kidney condition was either Cystic Dysplastic Kidneys or Nephronopthisis, two kidney conditions that can be seen on their own, or as a feature of BBS. She didn't want to jump to the conclusion that the girls had BBS, but it was enough evidence for me.

I came home and joined the Families of Bardet-Biedl Syndrome Facebook group, where I found that there was an upcoming BBS convention in Iowa and that I could send in my children's blood samples for free genetic testing ahead of the conference if a doctor suspected they might have BBS. We sent our samples off in March and waited and tried not to think too much about it in the meantime.

-------------------------------------------

Last Thursday Matt and I met with a researcher from the Wynn Institute for Vision Research at the University of Iowa and she told us that Naomi and Emma do, in fact, have Bardet-Biedl Syndrome. After ten and a half years the genetic mutation has been found and we have a concrete diagnosis. She handed us papers that I wanted to just stare at stating:

A homozygous ATG>AGG nucleotide substitution resulting in an amino acid change of Met390Arg is present in the coding sequence of the BBS1 gene of this patient. This finding is consistent with the diagnosis of Bardet-Biedl Syndrome (BBS).

I read it over and over in the following days, because with that finding, everything changes.

What does this mean? It means Matt and I both carried the exact same mutation in one copy of our DNA and Naomi and Emma each happened to inherit that mutated copy of the BBS1 gene from both of us. Two mutated copies of the BBS1 gene means that the instructions to make the BBS1 protein are all screwed up and that protein is made incorrectly in both girls. The major problem is that this protein is needed (as Matt and I learned at the BBS conference this weekend, following the diagnosis) in nearly every cell of the body in order to help traffic other proteins up and down the cilia of the cells in order to send and receive messages from other cells. It's like having all the taxi cab drivers in the city drunk at once, which would severely affect the traffic flow in the city and may eventually crash the city completely. In addition the BBS1 protein also seems to somehow help the "garbage man" of the cells to collect the trash. When the "city" of the cells cannot effectively move traffic or take out the trash, they at first function poorly and eventually die.

It is this mutated BBS1 protein that causes cystic kidneys, liver fibrosis, poor neurological signaling, heart defects, skeletal defects, endocrine abnormalities, obesity, and eventual retinal degeneration leading to vision loss. We were told that Naomi's extreme sensitivity to light and Emma's near-sightedness are early signs of retinal degeneration and that they need to get to a pediatric ophthalmologist who is familiar with BBS as soon as possible for further, in depth testing including Optical Coherence Tomagraphy and Electroretinograms to evaluate the condition of their retinas. Unfortunately at this point in time, there is nothing they can do to slow the degeneration. Apart from a miracle of God or modern medicine, the girls will slowly go blind, probably over the next 10-20 years of their lives.

But here is where the good news comes in: that miracle of modern medicine may not be many years away. The University of Iowa has been given an enormous sum of money by a man with a similar retinal degeneration disease for the purpose of ending genetic retinal degeneration. They have built facilities and hired researchers and have begun trials of gene therapies that have had good success with other types of genetic retinal degeneration. Multiple children with genetic retinal degeneration have been treated in these trials with gene therapy and have had some vision restored. They told us at the conference that they believe gene therapy for the retinal degeneration of BBS is only single-digit years away from being a reality. And so we are sober, yet hopeful.

We met many other families, including adults with BBS this weekend. The conference center was full of white canes and guide dogs, but also full of smiles, laughter, and friendships. We learned from the few experts in the world working on BBS everything there is to know right now, and we in turn offered our insights to them so that they can further the research. We are hopeful.

Yet we are sober. This diagnosis has been an enormous collision of emotions for us: relief at finally knowing; sadness and fear for what is ahead. But that is still not all. The University of Iowa would also like blood samples from our boys. You see, Hannah, who was tested for BBS and found to be a carrier (one bad copy of the BBS gene, and one good copy) also has small kidneys and the same heart murmur as her sisters. Toby, who does not have cystic kidneys, has one small kidney that is out of place. Carriers for BBS do not normally show symptoms of the disease, which leads the U of I researchers to believe that there may still be another mutation, perhaps in a more kidney-related gene, that may be complicating our family's health picture further. These researchers will now be sequencing the entire exomes of all of our five children (some 20,000 genes each) in an effort to see if another genetic mutation is shared by our children that would explain why four out of five of our kids have unusual kidneys. This information will help them better understand the interactions of genes in the human genome, and it will help our family better understand the health of our children. It will be several months before we get results from all of this.

This is all very difficult for us to fully digest. When we return home I will have to begin the process of connecting our girls to the correct eye doctors and low-vision resources. I will have to argue with our school system until they conceded to teach them braille while they are young instead of waiting until they are blind, because while the potential of gene therapy is thrilling, it is not yet a reality we can count on. I will be working to connect with the Foundation Fighting Blindness and other resources which can help us on this journey. I will be working to implement more stringent dietary plans for both girls to control their weight and hopefully lower their chances of developing type II diabetes (though this may develop in BBS even with proper weight control). I will be taking Emma for further evaluations to determine the proper cause of and treatment for Emma's early puberty. And I will be sending copies of the girls' genetic testing results along with information on BBS to their geneticist, pediatrician, nephrologist, cardiologist, endocrinologist, GI doctor, speech therapist, and physical therapist.

And then, in the quiet moments, I will be grieving this new challenge that has been heaped upon more challenges in two little girls' lives.

Thursday, May 29, 2014

The Chemistry of Meltdowns

It was the first concert we had been to in ten years, since the spring that I was pregnant with Naomi. Matt's favorite guitar player was in town, his mom and dad were watching our kids, and we were enjoying a marvelous performance together. We had just settled back into our second-row seats after the intermission when Matt's phone vibrated.

He didn't recognize the number. They called again and left a message. Then my phone vibrated with same number. Again they called twice and left a message. I hated to disrupt the entire second row and everyone behind them, but I was pretty sure this message was important. As soon as the song ended I made my way past applauding people, apologizing as I swiped their knees and stepped on their toes.

In the lobby I retrieved the message. It was Matt's dad calling from a new cell phone number we didn't recognize, but I didn't so much hear him as I heard the shrieking. Wild, panicky shrieks came one after another; hair-raising, blood-curdling screams of terror that made me want to drop everything and fly home with superhuman-mama speed. The volume was so loud that I hurried outside, worried that the screams now echoing through the empty lobby would make their way through the double doors and into the concert hall.

I recognized those shrieks, only they were older and more violent than ever, terrifyingly so. It had been over three years since I had last heard them. I was at the same time angry with Naomi and filled with compassion for her, sorry that Matt's parents were dealing with this, and embarrassed that it had happened again. I erased the message and dialed my home only to hear the continuing cadence of panic and anger, terror and rage ringing out so loud I had to shout to be heard over the phone.

I asked them to give the phone to Naomi but she swiped and punched and kicked with such force that they couldn't get near her. I asked them to put me on speaker phone and I tried to out-shout her, "Naomi! It's Mommy! NAOMI!! Calm down and listen to me!!" But I might as well have been shouting down an erupting volcano. Naomi was gone. She wasn't in that kicking, flailing, red-faced, shrieking body anymore. I knew, because I had fought that demon before, and that girl was not my daughter.

Matt's dad was bewildered. He had asked her to come inside for bed. That was all. And she had had plenty of warning. But she had dug in her heels. It started as stubbornness and anger. She was culpable for that wrong response, but the downward spiral that followed without warning I recognized as something far beyond her control. They had had to drag her inside as the whole neighborhood looked on, and they barely got her one-hundred-pound frame in the back door before she collapsed in her violent tantrum of nuclear proportions.

I asked to talk with Matt's mom. "Try talking to her gently," I coached, "Ask her if she thinks she's having a reaction. Tell her you think she'd feel better if she had an epsom salt bath."

I couldn't say much more because it was nearly impossible to yell loud enough to be heard. I thought about driving straight home, but I knew Matt would be worried, not knowing what had happened. I'm not terribly tech savvy, and forgot I could have sent him a text message. I decided to slip back in at the next applause, and I handed Matt a written synopsis on the back of a ticket stub, "Naomi is having a horrific meltdown."

If you're not familiar with autistic meltdowns you might assume I am a lenient parent, that I encourage tantrums by not disciplining them or by giving in to them. So let me quickly say: please educate yourself. Naomi has never once been rewarded for a tantrum: quite to the opposite, we dealt very strictly with them when she was little, before we understood them. The autistic child does not tantrum to get their way. Though it may initially begin as stubbornness, it quickly escalates out of their own control. They tantrum because they must. And no, a spanking will not cure it.

I sat, bewildered and worried, through the last four songs of the concert. I watched the fingers move and heard the notes, faintly, but my mind was racing through every food Naomi had eaten that day, any new chemical exposures she may have had. We knew these meltdowns were usually caused by exposure to foods containing large amounts of phenols, a chemical found naturally in many fruits and vegetables, but in especially high doses in artificial colors and some preservatives such as sodium benzoate.

Three years ago, when Naomi's diet had been full of "fruit" snacks, yogurt, Nestle Quick, fruit loops, soda, and other dye and preservative-containing foods these violent meltdowns often happened multiple times a day. She had been plagued by terrible headaches that were only worsened by Tylenol. She had had stiff, sore joints. She had been a miserable child, overwhelmed by the world around her, in constant pain or discomfort, withdrawn into a world of her own, then suddenly lashing out with violent, unpredictable force at the tiniest of disruptions.

But we had cracked that code. We had pinpointed phenols as the culprit. We had eliminated all artificial food dyes, sodium benzoate, Tylenol (which is itself a phenol), and even some natural foods high in phenols such as red wine vinegar. And she had vastly improved. The headaches disappeared, the joint pain subsided, and the angry, violent tantrums ceased completely. The dark bags under her eyes disappeared. She slept better. Just like that she was a different child, and every medical professional I mentioned this to looked at me like I'd grown three heads. The humored me, but I knew I was right.

Then tonight it reappeared, the child who might as well have been demon possessed. What went wrong? There was nothing, nothing new that she had been exposed to. She had eaten the most bland, tried and true foods. We hadn't gone swimming (chlorine exposure causes the same symptoms), she hadn't tried a new sunscreen, a new lotion, a new deodorant, nothing.

I was at the peak of mental frustration when I looked up at that guitar player in front of me and the idea crashed into my brain like a freight train: what if she's unable to process the chemicals released by her own anger? What if the only catalyst for her meltdown was her anger itself?

When we arrived home Naomi was almost back to her normal self. After 45 minutes of flailing, wailing, and shrieking, when Matt's mother had suggested to her that she might be having a reaction, she began to calm herself. She sang songs to her pet gerbil while she calmed down. When the epsom salt bath was ready, still feeling a bit stubborn, she claimed she didn't need it. She remained a bit on-edge the rest of the evening, arguing with Grandma that she ought to be able to sleep in her dirt-smeared pants if she wanted to. But by the time for tucking-in she gave her Grandpa a hug, told him she loved him, and shed tears of remorse when I explained how her tantrum had affected our evening out.

She didn't remember much of the tantrum itself, only the anger that led up to it. She said she just felt like she had to scream, like she had to kick and fight, her body compelled her to. She didn't feel like she was in control of it at all. Looking back she felt ashamed.

More determined than ever to find answers for my daughter I have spent the last few days at my computer like a madwoman giving myself a crash course on biochemistry, the degradation pathways of catecholamines, and the three phases of liver detoxification. And I think I've found it. I'm almost sure I have.

-----------

We know that Naomi, and many children with Autism lack the proper metabolic pathways to excrete phenols efficiently.

From Wikipedia: "Rosemary Waring a reader in human toxicology at the School of Biosciences, University of Birmingham, was the first researcher to produce scientific evidence suggestive of abnormal sulfur metabolism affecting people with autism spectrum disorders. Her findings suggest that people with autism present with consistently lower levels of circulating plasma sulfate and higher than normal levels of urinary sulfate than non-symptomatic controls (reflective of excessive 'dumping' of sulfate into the urine). Follow-up work has suggested that people with autism also present with higher than normal levels of other sulfur-related compounds, including sulfite. Waring found that most people with autism conditions have a deficiency in a key detoxification pathway involved with sulfation. The enzyme involved is phenol sulfur-transferase (PST), which is essential to the process of breaking down and removing certain toxins from the body. Waring postulates that symptoms arise from an inadequate supply of usable sulfate ions, rather than from a deficiency of the metabolic enzyme itself."

In other words, phenols must have a sulfate attached to them by certain enzymes in the liver in order to make them water soluble, and excretable by the kidneys. If the phenols aren't properly sulfated they will build up in the blood. I'm not completely sure what they do there, but I think they may want to bind with organic acids where they are able to react with them, which might conceivably affect the krebs cycle or glycolysis pathways. This is one area I would like to research more. Whatever these excess phenols are doing in the body, it isn't pretty to watch a child with phenol toxicity suffer from headaches, joint pain, dark bags under the eyes, inexplicable fevers, irritability, and irrational tantrums of nuclear proportions.

But is it possible that anger itself, and that well-known fight-or-flight response can trigger phenol toxicity? Yes, I am almost certain of it, and here's why.

The chemicals released in a fight-or-flight response are called Catecholamines. Dopamine, epinephrine (adrenaline), and norepinephrine (noradrenaline) are the three major catecholamines released in fight-or-flight, and they are all phenols. These phenols are then degraded within a few minutes by Monoamine Oxidase and Catechol-O-Methyl transferase down to other forms of phenol abbreviated MOPEG and VMA as illustrated below from Neurotransmission: The Autonomic and Somatic Motor Nervous Systems.


Ultimately, these phenols (MOPEG and VMA) need to have a sulfate added to them by enzymes in the liver in order to be excreted by the kidneys just the same way that phenols from diet do. Without adequate sulfating, these phenols will build up in the blood.

If I'm correct here (and I'm no chemist so I'll admit I might be wrong), this does not just mean that the child will suffer from excess phenols, but that build-up of these phenolic metabolites will slow down the further degradation of these catecholamines. This would mean that dopamine, epinephrine, and norepinephrine themselves would stay at extremely high levels for long periods of time in a child who is not able to excrete their degraded forms quickly and efficiently.

While these catecholamines might be degraded and excreted within a few minutes in a healthy individual, for a child with impaired sulfating, these fight-or-flight chemicals may stay at extremely high levels for forty-five minutes or an hour. If this is true, this child very literally cannot calm down.

No amount of discipline or reason will calm the child in this physiological state. They must yell, they must fight, kick, scream, thrash, and shriek as these chemicals increase their heart rate, their blood flow increases, their blood pressure rises, their energy stores are released, and their attention narrows.

Akathisia "is a syndrome characterized by unpleasant sensations of inner restlessness that manifests itself with an inability to sit still or remain motionless." According this Wikipedia article, "It was discovered that akathisia involves increased levels of the neurotransmitter norepinephrine, which is associated with mechanisms that regulate aggression, alertness, and arousal." And again, from this article, "Severe akathisia can become a very harrowing experience. Jack Henry Abbot (1981) describes the sensation:

...[It comes] from so deep inside you, you cannot locate the source of the pain … The muscles of your jawbone go berserk, so that you bite the inside of your mouth and your jaw locks and the pain throbs. … Your spinal column stiffens so that you can hardly move your head or your neck and sometimes your back bends like a bow and you cannot stand up. … You ache with restlessness, so you feel you have to walk, to pace. And then as soon as you start pacing, the opposite occurs to you; you must sit and rest. Back and forth, up and down you go … you cannot get relief …"

I cannot say for sure if my daughter suffers from an acute, hour-long akathisia due to norepinephrine overload, but it sounds hauntingly familiar. She says she must scream, she must kick, she must fight, no matter how ashamed she feels later; she has no control over it. And I think I am finally beginning to understand why.

Rosemary Waring demonstrated that many children with autism lack adequate sulfating pathways. She saw that children who ingested phenols in the form of food additives suffered symptoms that some have called phenol toxicity. She suggested that limiting dietary phenol intake in these children would improve symptoms. I have found this to be true with my daughter.

Though some research has touched on the roles of catecholamines in autism, like this study which found increased levels of catecholamines circulating in the blood of people with autism, and this study which found altered patterns of excretion of catecholamines and their metabolites in autistic children, and this rather frustrating study from as recently as 2013 which concludes that "neurotransmitters might play a key role" in autism and suggests that further research is needed, I cannot find anyone who has suggested that it is the phenolic properties of catecholamines and impaired sulfation that may underlie their altered metabolism.

I propose (as I cannot see anywhere else on the internet that this has been proposed, if I am wrong, please let me know) that children who lack adequate sulfating pathways also suffer from not only phenol overload but catecholamine overload when the fight-or-flight response is activated and these chemicals are not efficiently excreted because of impaired sulfation pathways. If I am correct, this is a plausible explanation of the chemical basis for the autistic meltdown.

My experience with Naomi seems to bear this out. When sulfate is absorbed into her skin in an Epsom salt bath, the readily available sulphates make it possible for her to quickly and efficiently excrete phenols. Twenty minutes later, she emerges from her bath as a new child: no headache, no joint pain, no stomach ache; not irritable or irrational, but bright and sweet and healthy as could be. This is equally true whether she is experiencing phenol toxicity from FD&C red dye 40, or from her own fight-or-flight meltdown.

There are many more questions to ponder here: why exactly do so many children have impaired sulphation? Has something made the enzymes sluggish? Are they wasting sulphate in the urine so that it is not available for the enzymes to use?

Beyond this, I know that my daughter adversely reacts (big time) to many common drugs that are not phenols, but are processed in phase one liver detoxification through an enzyme called Cytochrome P450 3A4 (CYP3A4). I have personally witness violent meltdowns in response to:

-Midazolam (Versed)
-Fentanyl
-Dexamethasone (Decadron)
-Diazepam (Valium)
-Acetaminophen (Tylenol)
-Lidocaine
-Dextromethorphan (cough suppressant DM)

All of which are processed by CYP3A4 in the liver. I don't know whether she has a genetic modification of this enzyme, or whether the Pregnane X Receptor which is supposed to cue this enzyme into action is the problem. Looking into things that downregulate PXR, which would ultimately lead to poor processing of these drugs is also fascinating, including inflammation. Let's not get into everything in our environments that could cause inflammation.

And so I have a lot left to think through, but I think I know this: my child who cannot tolerate dietary phenols also cannot tolerate the natural catecholamines released during the fight-or-flight response. Adding sulphate to her blood stream as epsom salts absorbed through her skin gives her almost immediate (within ten to twenty minutes) relief of all symptoms. I would also like to look at other ways to help her cope: dietary supplements, deescalating conflicts, calming techniques, and such, but understanding the chemical reactions are the basis for all of this, and something that is all too often overlooked in the study of autistic meltdowns, at least as far as I can see.

I need to add that Naomi is known to have both kidney and liver disease (polycystic kidneys and congenital hepatic fibrosis) that are not currently well understood in the medical world and are caused by a genetic mutation that had not yet been identified in Naomi. It is possible that her particular metabolic challenges are a result of her genetic defect and could not be applied to the autistic community as a whole, but if Dr. Waring is correct that a majority of autistic children have impaired sulfur metabolism, then I think it is reasonable to conclude that impaired catecholamine degradation may lie at the heart (or at least be a part) of the autistic meltdown.

While I am not a chemist, I did talk this through with my dad who holds a PhD in Chemistry, and he believes this is plausible. If anyone out there who has a background in biochemistry would like to challenge or confirm my musings, please do so, we could only both benefit from your insights.

Wednesday, May 28, 2014

Backyard

In the corner of the goal
Not wanting to be hit
In the shade of great walnut trees
Just bursting into leaf
She stands, arms crossed
Smiling a little at the boys
Running full-on towards her
With the pink community soccer ball

Across the dusty field
Her sister comes leaping
To guard the goal
That's not quiet guarded
Nimbly swiping the ball
From boys twice her size

A third sister giggles
At her good fortune
from the other side of the goal
She was jointly
Not quite guarding

In a corner of the dust field
Two brothers sit
Convinced they've found a sandbox
Developing roads and railroad tracks
And chasing down ant holes
With their newfound friend

She speaks no english
They speak no spanish
And no one minds
They understand just fine

The littlest brother peeks up
Catches my eye
And runs with joy-filled eyes
Towards me yelling
"Mama! Mama!"
To find a hug
And the assurance
I'm always watching

His friend follows
Explaining something exciting
In spanish
And when I explain
That I don't understand
She smiles, shrugs,
And somehow convinces
both of my sons
Without a word
To gather piles of last year's walnuts
To feed the squirrels
That she doesn't at all
Find a nuisance

When my littlest one
Sees the biggest boys
Jumping bicycles on ramps
He watches, mesmerized
Toes on the edge of the road
He knows he must not cross
Wishing I wasn't calling him to dinner
When there's so much to do
Outside

Thursday, April 24, 2014

Update on Me: Finally a Doctor Who's On to Something

I wrote in January about the possibility that I would be diagnosed with Myasthenia Gravis. A neurologist in my home town had run a test that seemed to indicate a problem with the neuromuscular junction, which would explain the weakness and fatigue that I had been struggling with for about a year. My neurologist wanted me to see a neuromuscular specialist at a major teaching hospital about 3 hours away for more definitive testing, but that doctor couldn't see me until April. Being impatient, I found a doctor about 5 hours away who could see me in January, hoping I could get some treatment sooner. I haven't updated since, for fear that I sound like a hypochondriac with my constant health talk, but some of you have asked, so here's the update.

The January appointment with Dr. K was a huge disappointment. Dr. K decided before he even walked in the room that I was a hypochondriac. He subjected me to more psychological questions such as, "Why are you so worried about your health?" than questions related to my physical symptoms. He questioned everything I said, even going so far as to question whether my children really had celiac disease, until I told him that they had been diagnosed via intestinal biopsy at a children's hospital. He told me my neurologist had screwed up the tests and the results weren't reliable. He gave me a half-hearted exam that never properly tested the fatiguability of my muscles and then pronounced that I was suffering from stress and needed to take it easy for awhile.

Unfortunately, at that moment I was more shocked and disappointed than livid, and all I wanted to do was leave that office as quickly as possible, knowing that if I got overly emotional it would only confirm in his mind that I was over-stressed. Two hours later I was livid, and I remained livid for the next few weeks.

But my only real option was to wait patiently until my next appointment with the neuromuscular specialist I had been originally referred to, which was in April. I tried to will myself healthy again. I pushed myself to keep up with the chores, even when my arms felt like lead. I pushed myself to get out and get active, hoping it would make the weakness go away. But, no matter how I tried, I could not will my neck to support my head while I was driving. I tried and tried again, coaching myself, "Come on, Kathy, you can hold your neck up for a three minute drive to the store!" But I couldn't. It would tire and ache as if a hundred-pound weight were on it, then finally cave back against the headrest.

So I tried to rest, and I tried to remain active, and I used a neck pillow to prop my head up in the car, and sometimes at home, and I waited for April. I stayed off the internet, tried not to think about it, and waited. I had a couple weeks of feeling slightly better in early March (hence the burst of energy to replace my kitchen sink), but then slipped back down when I had a big week of activity and never really recovered.

The first week of April I had to take Naomi for a two-day trip to the children's hospital. I told myself I could make the 7 hour round trip, since the drive was split between two days, as long as I got plenty of sleep beforehand. That was a really dumb mistake. The drive there was far more challenging than I had expected. My arms got heavier and heavier. Lifting them up to hold the steering wheel felt like the final push for that last rep in a set of fifty dumb-bell curls. I could move them, but the effort it took was incredible. I lay one arm in my lap at all times, and drove with the other hand at the bottom of the wheel, switching periodically. Then my legs got heavy. I couldn't maintain the pressure needed on the gas peddle and had to use cruise control to regulate my speed for most of the drive. I used my left foot to brake a few times because my right leg felt so heavy.

The second day of our trip was far worse. We went to a children's museum in the morning, which was absolutely wonderful, but took it's toll by the time of the doctor's appointment. I began to feel weaker and weaker and had a headache. After the appointment, as we made our way through the hospital halls I began to feel nauseous, my head pounded, I tripped over my own foot once, broke a sweat, and thought I was going to pass out right there in the hall. I was thinking over and over, "Just make it to the van and you can rest." When I finally sat down in the driver's seat of the van I felt a familiar tightening and twisting in my brain--a migraine headache. I didn't know what to do: I was trapped over three hours from home. I decided just to make a run for it and see how far I could get out of the city, then I would pull over and get a hotel room if I needed to, but I just wanted out of the city. I don't remember much of that drive, other than I was in intense pain and was probably not very safe driving, but about two hours later the migraine lifted and the relative rest of sitting in the van had renewed my strength enough to make it all the way home. I vowed not to attempt that again.

Finally, last week, came my long-anticipated appointment with the neuromuscular specialist. Matt took the day off of work to drive me there. This lady doctor, Dr. B, was a night and day difference from Dr. K. She listened respectfully, took my symptoms seriously, and is testing me thoroughly. She never once asked me how much stress was in my life or why I was worried about my health. She ran a huge panel of blood tests and I will return on May 9th for further nerve and muscle tests. She is looking for signs of muscular dystrophies, myopathies, myasthenias, and metabolic abnormalities. I couldn't have been more thrilled with this doctor. I know that if modern medicine has the ability to detect my problem, this doctor will find it and help me.

Three days after my appointment Dr. B e-mailed me to say that my levels of Coenzyme Q10 were low, and that she wanted me to start on this supplement right away. If I understand it correctly, Coenzyme Q10 is necessary in nearly every cell of our bodies for the production of ATP, the energy source of cells. Without sufficient CoQ10 muscle cells may not be able to produce enough energy to respond properly. My level was well below the bottom of the reference range and only 31% of the average level found in healthy adults. The doctor believes this could be the reason for my muscle weakness and fatigue. We are still waiting on many more in-depth tests to come back which will tell us more about how my cells are producing energy and whether there is more to the picture than a simple deficiency.

We do not know why my CoQ10 levels are low. I eat a healthy, varied diet with few processed foods. My diet is rich in meat, eggs, and other foods high in CoQ10, but even if it wasn't, most of the CoQ10 in a body does not come from diet, the body is supposed to produce sufficient levels on its own. It's possible the problem could be a deeper genetic or mitochondrial disfunction that impairs my body's ability to produce CoQ10. Further testing is needed to sort that all out.

In the meantime, I have been taking a fairly high dose of CoQ10 (200mg, 2x/day) per Dr. B's instructions, and my levels will be tested again in a few months. I can't tell an ounce of difference in one week's time, but I guess it can take months to raise a body's levels of CoQ10, so I will have to be patient. I am happy to feel like we at least have something to go on now, some idea of what is wrong and how to help it.

On another note if I did have a genetic mutation that impaired production of CoQ10 (called Primary Coenzyme Q10 Deficiency, which sometimes manifests as muscle weakness in adults) this could have been passed on to my children. There are several case reports of children with Primary CoQ10 Deficiency who have presented with polycystic kidneys and neurological abnormalities. Since we still don't know what mutation plagues our children, this is an interesting possibility to me, especially since it could be treated with a simple supplement. I know I am getting ahead of myself here, we really don't know why my levels are low, but it makes me wonder.

All that to say, I think I have finally found real help, and am getting closer to some treatment that holds the promise of helping me feel human again, which is a very hopeful prospect. We shall see.