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.