Wishing for Spring

In winter it's snowy and boring on the land
And the sky is a grey and cloudy band
Oh how I wish for spring
When trees bud and birds sing

I'm tired of when frost bites
And tired of cold snowball fights
I want spring with weather nice
That melts the old snow and ice

I want to see a snowman's carrot nose
Sitting in a small pile of melted snows
'Cause that's a sign that spring is coming
When flowers bloom and bees are humming

--by Naomi Eby (age 9)

How to Update a Sink, I Think

Matt was actually the one who planted the crazy idea in my mind. He complained that it was too hard to wash our large cooking equipment in our sink. He said he wished we had a higher, arched faucet to fit the pots underneath. I said I wished we had Cono's industrial kitchen…but we didn't, and we'd just have to make due. I've been working over the past year and a half to upgrade as much of our cooking equipment as possible to match our family's huge cooking needs. We've gotten a huge crock-pot, food processor, food dehydrator, rice cooker, jumbo skillets, huge stock-pots, massive mixing bowls, and a professional sized kitchen-aid mixer. Last week I put up a shelf-and-hook system to help store some of my larger equipment in easier reach.

And while all of this has helped immensely, I've continued to come back to the idea of having a deeper kitchen sink, with a higher faucet to accommodate our larger-than-average dishwashing needs. Plus, our sink was just old and nasty looking, with white porcelain that collected annoying black marks every time a pot touched it, and creepy brown stuff that continually snuck out from under the edges, no matter how often I wiped them clean. Yesterday morning my sink looked at me and told me it was ready to go: it's work here was done.

I looked on the internet some to see what might be available for sinks and faucets, but figured I was dreaming--the 10" deep stainless steel double sink that I would really have liked to have was about $250, and then there was the little cost of playing a plumber to install a new sink and faucet. I knew that wouldn't happen. But I thought I'd just take some measurements and look around, just in case. A trip to Lowe's revealed a nice faucet on sale $89, which isn't too bad, but they didn't have the sinks I needed in stock and they would have been too expensive anyway. I noticed that their posted price for installing only a sink was over $200. So I sighed, and left.

On my way home I swung by the ReStore (a store of used hardware and houseware items, like a Goodwill for Home Depot) not expecting to find what I was looking for, but I figured it was worth a look. The lady in the store listened to my description of my ideal sink and helped me look through a large shelf of used sinks. I was floored when I saw my dream sink in front of me: a stainless steel, double sink with the left sink extra large and 10"deep. When the lady offered to sell it to me for $20, I suddenly became insanely crazy and bought a kitchen sink, deciding to install that thing myself if I had to. Back to Lowe's I went for that faucet, and some silicone caulk, and I was all ready to go.

All I had to do next was disconnect the old faucet and drains, rip the nasty sink out, slip the new one in place and hook everything up: a three hour project at most… I hoped. So Matt came home from work to find me tearing up the kitchen. He promptly left the room, because we both know by now that it's just easier that way. I'm not sure why, but he finds these whims of mine stressful.

Alright then. So this is what it looks like under a kitchen sink… This stuff should come apart somehow… Might need some tools or something… 

And so I got started at about 7:00pm yesterday. I didn't have any problems disconnecting the old faucet, save for the crumbs of nastiness flaking off the fittings and into my face as I lay under them with my pliers. The major problem with disconnecting the drains was the smell, and the four kids in my kitchen making gagging and vomiting noises. They got banished, mainly because they were making me want to vomit, which would have been wholly unhelpful. Then Matt stepped in for his one manly job: removing the old porcelain sink which was entirely too heavy for me to lift out of a hole. I tried, then I called Matt, and sure enough, it was much easier with Matt doing it.

At about 8:30 I gleefully plopped my new kitchen sink in place… sort of… but no, something was wrong. It was sitting half an inch off the counter. Some genius had decided that sinks should now be made with half-inch metal rods sticking down all the way around, about an inch inside the sink edge, probably to do something dumb, like hold the sink in place. Nobody needed those in the 1950's when my last sink was (effortlessly) dropped into a hole in the counter just big enough for the sink basins. So, there I was at 8:30pm with a new sink that measured the same as my old sink on the outside, but didn't fit in the hole in my counter.

I tried removing the obnoxious metal rods: then I remembered that they were supposed to hold a sink in place and they were made to stay put under pressure. I tried bending them out of the way: negative on that as well. So it came down to cutting the counter. This might not have been too hard if I had a handy little rotary saw of sorts, but I didn't. But I was in too deep to back out now, and at this point in a perplexing project I tend to pull out my most useful weapon: unyielding tenacity.

Yes, folks, that is how I removed a half-inch thick piece of plywood, one inch in on three sides of a sink hole with a box-cutter, a hammer, and a flat-head screwdriver (aka chisel and wedge). And it only took me three hours. No, no the kids didn't mind sleeping through the incessant pounding noises and culturally acceptable curses at 10:30pm.

Shortly after midnight the sink was sitting in it's proper place, beautifully caulked and all. I decided it was a good time to let the caulk dry. So I slept then--not because every muscle in my upper body was aching or because nine out of ten of my knuckles were bloody, just needed to let that caulk dry.

I woke up early, more out of fear of the kids getting into my plumbing tools and supplies all over the kitchen, than out of eagerness to greet my project. The drains didn't quite meet anymore, since the left sink drain was lower and farther back that the previous one.

Well shoot.

But actually, one trip to Ace Hardware and two hours later, I got that problem worked out relatively easily.

It even drained, except that I realized I had forgotten to seal the drain on the right that I had taken off our old sink to add to the new one. So then I had to take it apart, seal it, replace everything, and cellophane-wrap the sink so the glue could dry for 24 hours. At least the left sink was draining without a hitch. And here I was giddy with excitement again: I just needed to hook up the new faucet.

I should learn not to be giddy.

The new faucet hooked up perfectly smoothly: like warm butter on toast. I took a deep breath and turned on the water supply lines, and then I met a monster. The hot water supply line was something like a thousand years old. It had always been touchy, leaking if you turned the handle wrong, but I had always been able to find a sweet spot before where the water would run through the pipe, but not spray out all over under the sink. No such luck today. That valve was shot. It had heard that the sink and faucet had been relieved of duty after sixty-plus years and it demanded to retire as well. I had no choice but to turn the valve off, take some measurements, and head back to the hardware store for a new valve. It was a compression fitting, no blow-torches needed or anything crazy like that, so once I had the part in hand I was sure I'd be done in a few minutes.

I turned the water off to the house, and very carefully attempted to turn the old valve off the copper pipe. Then I broke out some major tools and attempted again, but it was stubborn. I was careful to support the copper pipe as I cranked on the fitting, but with the slightest movement the ancient copper pipe, which already had a slight kink in it where it came in through the floor, kinked worse and, to my horror, sprung a leak.

That was where my heart really sank. Crap. And now what? So I called my dad, of course, who told me it might be time to call a plumber. But that wasn't going to fly with me. I didn't want to pay for that; I didn't want to wait for that--remember the water is off; and I really didn't want Matt to think I'd screwed it up or he might not trust me in the future. I had to fix this myself. So my dad gave me a list of things I'd need to buy: soft copper pipe, a pipe-cutter, and a compression union. The hardware-store guys who were hanging out in the plumbing aisle waiting for people to laugh at, got their laugh at my story. Then they hooked me up with all the right stuff for under $15 and I began to feel hopeful again.

The pipe had burst right at the junction with the floor so I had to pull the old pipe out through the basement. This is one of those times where it's nice to have an unfinished basement because the pipes were easily accessible. I cut the old pipe, ran a new copper line, cut it to size, connected it to the valve under the sink, then connected it to the cooper line in the basement with a compression union. I breathed a huge, satisfied sigh and turned the water back on.

Instantly children began screaming in the kitchen. I was hoping they were screaming for joy along with me, but when I heard, "Mommy!! There's water spraying all over the kitchen!!!"that nice, satisfied feeling felt more like a rock in my stomach. I turned the water off while Hannah ran for a few bath towels. They hadn't been kidding. I hadn't tightend the compression nut on the hot water valve enough, because it blew right off and created an indoor sprinkler. Once everything was dry again, I laid into that nut with every muscle I had in my body. Then I checked the compression union in the basement and it was trickling too, so I gave it a little more muscle with my crescent wrench and pliers as well.

I braced myself as I turned the water back on again, but there were no screams. Painful silence followed as I listened, then watched for drips, but to my amazement: I had successfully completed plumbing the sink! I wiped all the pipes dry again and watched and watched for drips and leaks, but there were none. The cold water turned on in my new faucet, and the hot water too. It ran down a drain with no leaks. And then I realized, while angels sang, that I had put in a new kitchen sink a faucet completely by myself, for a total cost of about $150, and… about thirteen hours of labor. And it was worth it all.

A Weight Off

Naomi began gaining weight rapidly from her first week of life. She gained one pound per week until she was six weeks old. She had enormous cheeks that weighed her down and rolls upon rolls on her baby thighs. When she was a little over a year old she began to slim down, and for the next five years we didn't worry about her weight at all. She ate like a horse, but she was always a healthy size.

When she was six years old Naomi was diagnosed with celiac disease. An intestinal biopsy revealed that her intestines were badly damaged, limiting her body's ability to absorb nutrients from her food. I reasoned that that must be why she ate so much. After we removed gluten from her diet, her intestines healed, and she began to absorb nutrients, but her appetite didn't decrease. When she packed on nearly 20 pounds that first year I reevaluated our diet. I removed many of the gluten-free starchy snacks that were filled with sugar and made fresh fruits and veggies available at all times for snacking. We talked about some healthier eating habits with Naomi, encouraged her to exercise more, and for about a year we held her weight steady.

Then without warning in October of 2012 Naomi began to gain several pounds per week. I took her to doctors worried that she was retaining water. They were alarmed as well, but couldn't find a physical cause. Her kidney and liver functions were sufficient, her heart was fine, and her thyroid function was normal. It was a mystery.

Matt asked me one day if I had been drinking more coffee. I admitted I had. We figured together that that was the reason our liquid coffee creamer was suddenly empty again. We stopped by the store on a Sunday afternoon, on our way home from church and I ran inside for another bottle of creamer. On Tuesday morning when that 32oz bottle of liquid coffee creamer was suddenly empty, I realized where Naomi's drastic weight gain had come from.

Fortunately, when I confronted her, she admitted to having a habit of drinking the creamer when no one was watching. I grilled her then: what else was she hiding from us? She admitted to drinking pancake syrup from the bottle, eating brown sugar from the canister, and a host of other "snitching" behaviors I had been clueless about. When I scolded her and told her how much she was hurting herself, she was clearly remorseful. Looking at her then I realized that she had readily admitted to this problem, because she knew she needed help to overcome it. For her, it wasn't so much a discipline issue as it was an addiction issue. Decisive action was necessary.

I bought a new cabinet, rounded up all the items Naomi had ever been tempted to snitch, stored them in the cabinet, and then installed a combination padlock.

The coffee creamer was trickier, since it had to be refrigerated. I considered putting a lock on our refrigerator, but that would have added a huge amount of stress to my life as I spend so much time cooking. I considered buying a small locker to store in the refrigerator for a few key snitchable items, but in the end I opted for talking with Naomi seriously about the dangers to her health when she drinks coffee creamer and putting a poison label on the bottle as a reminder.

I also posted on the refrigerator a list of healthy eating habits that encouraged Naomi to eat small portions and healthy snacks, not snitch foods when I'm not looking, and exercise more often. And these measures helped… for awhile.

Last spring Naomi's weight held steady again for several months. The weather was warm. She was active and motivated to be healthy, and the numbers on the scale stayed steady. She was clearly overweight, carrying about 88 pounds on the 4 1/2 foot frame of a nine-year-old girl, but at least she wasn't gaining anymore.

But this fall it began again. Something about the cold weather, or being homebound, I'm not sure what, but she just lost control again. She no longer snitched unhealthy foods, she just ate and ate and ate the healthy foods I served. I gently reminded her, I scolded her, I sometimes limited her meal portions, but she would cry--tears and all--that she was still hungry, and I wasn't sure how to respond to that.

I didn't want her to be self-conscious. I never wanted to make her looks the issue. I didn't want to add guilt to her addiction, and I didn't really understand what drove it. I had her thyroid checked at least four times. It was fine. And Naomi and I both grew increasingly frustrated.

Naomi at her highest weight in December

By last December she had gained another ten pounds, topping the scales at 98 pounds, and putting her BMI into the obese category. At the same time her kidney function continued to decline. She has only a small amount of function left in her small, scarred kidneys, and they can only filter so much body mass. The extra weight she was gaining was only speeding their demise. So I had to be honest with her, and I had to take drastic measures.

Matt and I finally sat down with Naomi in December. We explained that we were going to show her some tough love. We told her that because we loved her we could not let her continue to gain weight, to hurt her kidneys, and to risk developing diabetes. We told her that we were taking control of her eating to help her, and that if she trusted us and followed our plan it would be difficult, but worth it. We told her she would be served one helping at each meal, and that was it--absolutely no second helpings, no matter how hungry she felt. We told her she would have one small snack in the afternoon, but nothing after dinner at night. We told her she would need to play actively every day, ideally for one hour, even if she didn't feel like it. She cried, she argued a little, but then she accepted it. And I think she dared to hope that it would help.

The first week was hardest. Old habits die hard. It is hard to walk away from a table not quite feeling satisfied. It is hard not to return to the kitchen when you are bored or feel a little munchy. It is hard to get off the couch, put on all your snow clothes, and get booted out into the cold when you feel sluggish. But we worked together. She needed a calcium supplement with every meal now because of her failing kidneys so I bought a minty flavor. She got in the habit of finishing her meal, drinking a big glass of water, popping a minty calcium in her mouth, and leaving the kitchen. She said the mint taste helped to get the taste of dinner out of her mouth so she wouldn't want to keep eating, the water made her feel more full, and staying out of the kitchen always helps. After one week, her weight had dropped from 98 pounds to 97, we showered her in praise, and she glowed with pride. Now she wanted to stick to the plan.

In mid January, when we learned from her new kidney doctor that Naomi likely has Bardet-Biedl syndrome, we finally understood why this had been such a struggle for her. BBS causes obesity by damaging the receptors in the brain that are supposed to receive the satiety signal called leptin. Unable to receive the signal, the hypothalamus believes the body is starving and ups its signals to increase food intake and decrease activity. Naomi constantly receives hormonal signals telling her body to eat and rest, which is a huge obstacle for any nine-year-old child to overcome. I didn't waste any time in explaining this to Naomi. She was actually relieved to have someone explain what she had been feeling. Then I commiserated with her that it wasn't fair that she would have to fight this her whole life. But I made it clear that it wasn't an excuse not to fight. Her other option was to give in to the cravings, be morbidly obese, speed up the time to kidney failure, likely develop diabetes, and die early. She decided too that it was worth the fight.

In about seven weeks since we began this program, Naomi has lost a total of seven pounds, dropping her weight to 91 pounds and placing her BMI out of "obese" and into "overweight." I can't tell you how much I've layered on the praise. She feels very proud of herself and she should. She has more energy, her favorite clothes fit again, and her self-confidence has grown. She knows she can set a goal, work hard, and achieve results. We have set a target weight of 83 pounds because that would be the highest BMI allowed in the "healthy weight" category for a girl her age and height. If she sticks to the plan, she should arrive at her goal in about two months.

Beyond saving her kidneys and pancreas, she's learned a life-lesson. Life has dealt her an unfair hand, but she can choose to take control of as much of her health as possible, and she can enjoy the glow of accomplishment when she has.

Naomi and Emma after haircuts, and after Naomi lost seven pounds

Plunder to the Thief

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hideous pirate
Never satisfied

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

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

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

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

All I love in this world
Plunder to the thief

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

…

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

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

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

Bardet-Biedl Syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

     (yes for both)

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

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

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

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

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

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

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

Pencil to Paper

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

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

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

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

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

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

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

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

Stitching emotions
Phrase on phrase
Embroidering sorrow
And grief
With hope

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

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

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

For the Love of a Stinkbug

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

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

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

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

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

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

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

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

"That's really sad," he sighed.

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

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

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

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

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

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

From the sidelines. I sighed again, and wondered…

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

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

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

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

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

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

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

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

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

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

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

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

They laughed uneasily, and wondered.

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

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

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

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

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

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

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

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

Mission accomplished.