Cystinosis, Baby

One of the most celebrated treasures of motherhood is the scent of newborn babies – soft, downy, honey-scented baby hair and squeezy baby cheeks smelling of fresh baby skin. That fresh-from-heaven, irresistible baby perfume embodies everything new and lovely and good and innocent and melts even the most exhausted mama heart.
Perhaps that is why I couldn’t stop the tears on that first day the sulphuric, burnt smell of cysteamine drifted up from my beautiful, barely six-week-old baby girl’s breath.  It is the smell of cystinosis: of doctor’s appointments and lab work and rounds and rounds of medications.  It is the smell of tears, and anxieties, and the unknown.  It is the smell of sorrow.
And it is the smell of life and hope for my baby girl.
ImageSidebar (sort of): since Madelyn’s birth, my friends and family have endured many of my thoughts about cystinosis.  I am a verbal processor and sometimes get verbal diarrhea.  And cystinosis happens to be on my mind often – every six hours anyway, at the very least.  At any rate, as I begin the slow process of processing (haha) this journey, I hope that the verbal diarrhea can – perhaps – work itself out.
We are a small number, those whose tiny babies are diagnosed with cystinosis.  Usually, the diagnosis is received around the first year of life, when parents are freaking out that their failing-to-thrive baby is possibly dying.  Only those who choose to have (or get surprised by) another pregnancy have the opportunity to diagnose their child so early that the symptoms are avoided and the treatment begun before any kidney damage has taken place.
Cystinosis, a metabolic disease managed (but not cured) by medication administered every 6 hours, broke into our lives in June of 2011.  The second of our three daughters, Aliyah (Ali), stopped thriving before she was 7 months old, but we did not receive a diagnosis until the week before her first birthday in June.  Instantly thrown into a world of hospital visits, new terminology, medications, and constant clock-watching, we squeezed sleep in between 2-hour-long dosing sessions every six hours and barely kept our heads above water.
But we managed to keep swimming, and the routine became easier.  Six-weeks post-diagnosis we took the girls tent-camping with friends, and although meds certainly complicated the matter, we found ourselves delighting in the trip and relieved that we could continue in our life in spite of such enormous changes.  By the end of that first year, those two-hour-long dosing sessions had shrunk to fifteen minutes each, four times a day; Aliyah had grown several pounds; she was walking (when she could not even hold her head up by her 11th month) and talking up a storm.  Gone was our peaceful, docile Ali, replaced with the real Ali – a feisty, dynamic, chattering little fighter.
Pregnancy with our third child was a bittersweet time – full of hope and anxiety.  We prayed that our baby would not have the disease, knowing even so that her freedom from cystinosis could leave Aliyah feeling more alone than ever.  Even as our due date approached, we became more and more aware of the challenges not just of cystinosis but also the challenges unique to belonging to a rare disease community.
I was also very aware of the concerns and thoughts and, in my mind, judgements of others who were aware of our twenty-five percent chance of having another child with cystinosis – making the carrying of our sweet third child a time riddled with anxiety, self-consciousness, and breathless hope.
When Madelyn was born, we held our breath for six weeks, waiting, hoping, praying.  And then the email came from our nephrologist, whom we love dearly:
Hi there
I am out of the country and so have not been entirely “in the loop” about Madelyn’s investigations.
I understand that Madelyn has had a WBC Cystine level done. The result is 1.39  which is high.
In addition the genetics test that was done for the other concerns is apparently saying that Madelyn has two abnormal cystinosis genes…
I hope that you and Madelyn are OK….This is all rather disconcerting…..
And again, we found ourselves thrown into a new world, and a new experience of cystinosis entirely.  Cystinosis had broken into our lives again.  And although we believed, before Madelyn was born, that we were ready for it, the truth is
You never are.
** I have found this post very difficult to write.  So many thoughts.  So many moments.  So I have to write it in bits, largely to make sure it isn’t too personal but also to make sure I can speak the truth of our lives in this new reality.  For me.  And for my daughters.  So it is to be continued… **


These days in 2011 – An Anniversary we won’t forget

It’s funny that the “anniversary” of cystinosis in our lives isn’t June 6 – the day she was diagnosed.  Cystinosis happened in our lives far before we knew it – before we knew Aliyah was a girl, before we heard her heartbeat, before we even knew she was.  But the anniversary feels like the whole end of May and beginning of June, from the first realization that she was losing weight to the tearful phone call to the pediatrician, pleading for an earlier appointment, all the way through to those first long, fearful weeks ago home in a new lifestyle foreign and frightening to us.  Oh, life has changed.  It is now fresh, full, and joyful, even if it’s dictated by a six hour clock.  But oh, do I remember those days.

A letter to us – one year ago.

Dear Self,

I see you sitting there on the couch in your small townhouse living room, your two darling towheaded girls asleep upstairs. Your fear is so deep it burdens heavily on your chest, takes your breath away, stifles your voice.  You cannot ask the questions you are thinking – they are too dark, too fearful, and far too real.

The tests your baby had today are only the beginning.  You have several weeks ahead of you that will test your faith and hope further than its ever been tested.  Only now, looking back over the last few months, have your eyes been opened to the reality of little Ali’s health – her weakness, emaciation, inability to roll over or sit up and now, her increasing inability to even hold up her head.  Her chronic constipation and incessant thirst seem the least of your worries.  You wonder how in the world you could have missed all of this.

You have a long road ahead.  In the next weeks, you will weep many tears as your small, not-even-one-year-old daughter will be poked with needles, strapped to boards for ultrasounds and other invasive tests, and attached to heart monitors.  You will watch her throw up more than you think she can even take in, her little head hanging in limp exhaustion after each vomit.  You will lean your forehead on the white railings of the crib and stare at her, your vision blurred with tears, while the doctor tells you he’s “95% sure” and “it’s a diagnosis I wouldn’t want for my child”.  Every visit from the doctor or medical team will leave your head spinning with questions and information overload, and underneath all of it, your heart will break because the life you had hoped for your precious baby will not be.

You will not believe it when people tell you it will get better.  In your journal, you will record all of the 10 medications Ali must take in the tube through her nose, four times a day, every. damn. day.  You will record every time she throws up and every time you have to re-dose the medication.  In the small family room at the hospital, the pharmacist will patiently explain how to calculate the correct dose so you can mix powder with water and sustain Ali’s life, fighting the little crystals that threaten her cells every day. With a resolution you didn’t know you had, you will learn how to pull an ng-tube out of her nose and re-insert it, while she wails against you, not understanding this new life she faces.

In the dark of your parents’ basement, while someone else gives you respite and watches over your daughter, you will weep tears of fear and despair and hopelessness and guilt.

That first time you take Ali home for the day to celebrate her first birthday, and you fearfully give her all her meds without the aid of the nurses, and she throws it all back up?  That will happen again.  And again.  After the first few weeks, you will not be filled with fear but, armed with some experience and understanding, you will cope.  You will have months of sleeplessness – with two hour feeds in the middle of the night, constant vomits, going through 5-pairs-of-baby-pajamas in just as many hours – but those will pass.  The first Thursday night med night (med nights are on Mondays now) will take you 4 hours and you will only pack 4 days worth of medications, and you will look ahead at endless years of an onerous and discouraging weekly med-prep.

Clean syringes drying

But now?  Now you can do it all in about 30 minutes (not counting washing all those syringes), and while watching ‘The Bachelorette” too.  The tremendous fear of the internal damage that happens in Ali’s body when she doesn’t miss a dose is still daunting – but now you can accept your humanness when the alarm isn’t properly set and you miss a dose, and your world doesn’t melt around you if she throws up.

First Birthday

You will doubt God.  You will question how he could be a God of love in a world of suffering, how people see you as strengthened by your faith when others you have met without faith seem stronger than you.  You will explore atheism and evolution and agnosticism, and you will let your doubt control you.  But you will also be surrounded by people who care, listen, truly hear, and pray.  You will not lose faith.  But you will walk around in the dark for awhile.  Perhaps for quite a long while.  That’s okay; God is God in the dark, too, and he can handle all of your questions and uncertainties.

You will not believe it when people tell you it will get better.  After all, what do they know?  You will be overwhelmed when you realize only 12 other Albertans struggle with this, and you will not appreciate anyone who tries to encourage you.  Cynicism is an ugly thing and you don’t wear it well, but you are so blessed to have friends who can tolerate you in your ugly moments!  It IS true that they may not know what’s like, but regardless, they’re right, it will get better.   Your three-year-old will help you administer supplements and vitamins, and will know words like potassium and cysteamine before her half-birthday.  You will manage endless rounds of vomit and countless loads of very smelly laundry without losing your own lunch!  You will learn early to trust both sets of parents to Aliyah’s care and thus will have some much needed sleep on occasion.  You will even go camping with all those meds – in a tent.   You still don’t wear a watch and you rarely miss the exact moment at noon/6/midnight/6 when the next dose is due.

So here we are, one year later, and while your life is entirely different, the little baby you thought you were losing is bursting with personality and energy and zest for life.  She is no longer immobile.  Her head doesn’t lag when you lift her up.  She is walking, running, dancing, learning to leap!  With the vocabulary of a four-year-old, she chatters your head off about anything and everything, with a sense of humor destined for some stage somewhere.  Her sleep is uninterrupted by meds or throwing up; she no longer pees through everything she wears; she doesn’t drink fountains of water and she actually likes food.  She is adored by her older sister, doted on by her grandparents.  And she has a far deeper faith than her parents.


Your reality is not the same anymore.  Neither is Aliyah’s.  But it is full of hope, full of love, and full of dazzling joy.  You are surrounded by people who have cared for and prayed for and blessed you and your family; you have a new home; meds are not a daunting, hopeless, overwhelming, life-consuming task but rather just part of your daily life.  You still have questions – your daughter’s future is so full of unknowns – but then, whose future isn’t?  And truly, you are full of gratitude.  Gratitude for the science behind Aliyah’s ability to survive and be healthy within the diagnosis of cystinosis; gratitude for the technology and support of medicine; gratitude for the compassion of hospital staff and friends and family; gratitude to a God who gave you and your daughter a second chance you feared (this time last year) would not exist.  You have learned to relinquish control and rest in the now, the only time any of us have.

So on this long “first anniversary” of cystinosis, you recognize and understand the challenges.  You are aware of the unknowns that lurk ahead, of the trials that you and Aliyah – and Sara, as she experiences and copes with her sister’s condition – will each face.  But you do not mourn, not now.  You rejoice that your friends and family have patiently stood by and listened to your frustrations and fears, that your husband has been a solid rock even as he walks inside of his daughter’s diagnosis, and that God has faithfully guided you in the dark.

On this one-year-anniversary, you CELEBRATE!


So when Bob and I decided to buy this house (that we have now lived in for a week and are totally enjoying), we knew right off the top that Sara and Aliyah would share the larger of the two bedrooms.  There are so many beautiful reasons for sisters to share a room: they learn how to develop personal space in a communal space, they learn to respect each others’ boundaries, they develop a close bond whereby they share their toys, their clothes, their secrets.

And, of course, I get a library.


So that’s the selfish reason that the girls are sharing a bedroom – I’m kind of tired of having a computer in the living room, mounds and mounds of paperwork piling up in the corner of the blessed space where I relax and reminding me that I shouldn’t be relaxing; I should actually be working.

Well, this sharing-of-a-room business has been an adventure thus far, to say the least.  Of primary concern in our little world was Aliyah’s midnight med schedule: Bob and I sneak into her room at about 11:55 pm and 5:55 am for twenty minutes, during which we give her a dose of formula and five little syringes of supplements and vitamins and medications.  We also manage to change her diaper (and sometimes her clothes, when she has peed through the double-diaper she wears – not uncommon).  Well, of course we’ve been worried that Sara’s sleep would be disrupted and subsequently med-hour would grow much longer in our attempts to return her to blissful slumber.

This has not been the case.

In fact, the only night Sara woke up due to med hour was when Aliyah threw up everything and we had a hurry-hurry time of cleaning the bed, the floor, ourselves, and the kid.  And two hours later, Sara returned the favour by wetting her bed (sorry, Sara – but don’t worry, everyone does it at least once) and we had another hurry-hurry-change-the-sheets-and-the-kid time, this time to Aliyah’s sleepy protests.

No, the issues have not been the middle-of-the-night situation – they have been the before-you-sleep and when-you-wake-for-the day situation.

Day One of room sharing: Aliyah was devastated to learn that she had to stay in her crib while Sara got her (normal) big girl bed.  After a healthy round of wailing, we got both girls tucked into their own beds and slipped out.  The following hour was filled with laughter, chatter, and tears as the girls entertained or tortured each other, one after the other.

Sara, being exhausted, finally drifted off to sleep.  For the next thirty minutes: “Sara?…Sara?…Sara?…Sara?…Sara, wake up!…Sara?”  Finally, singing herself a little song, Aliyah finally slumbered.

The next morning was payback: Sara came into our room at 7am, announcing that Aliyah desperately wanted to get out of bed and was calling me.  Groggily, I headed into the room, to find Aliyah groaning, rubbing her eyes, burying her face in her giraffe, and trying to block out the light.  Haha, that’ll learn ya.

And apparently it did, for the following five days have been a dream; every night for five, the girls quietly tucked in for the night and not a peep was to bed heard.

Until tonight.  At the moment, Sara is singing herself a song while Aliyah alternates between babbling at her giraffe and calling, “C-ysal!” Where she learned my name I’ll never know, but it’s more than amusing to hear her actually calling me that way.

At any rate, my selfish desire for a library/office/study/whatever is turning into a lovely relationship between Sara and Aliyah.  Both seem remarkably happy to be sharing a bedroom (“Just like Mommy and Daddy!”) and, aside from the days when Sara shuts Aliyah in or out (and poor Ali can’t yet reach the door handle), all’s well with the world.


5-Minute Friday: Brave

Here we write for five minutes – no self-editing, no going back to fix our bad ideas, just the beautiful flow of words and creativity and expression.  We have five minutes to write.

So here we go.


It seems that we don’t have to face a lot of fears these days.  At least where I live, we don’t have war or famine or major natural disasters (aside from wicked wind!).  We’re not facing cruel dictators or despots.  We just live every day – waking up to a morning at home or at work or at school, grocery shopping, cooking and eating meals, visiting friends, earning money and paying bills.  Not too much to need bravery for.

And yet.

Every day, I see more on the internet that breaks my heart.  Every day I hear more about the sexualized world my daughters are growing up in, the messages they will face every moment of their lives telling them to be somebody for somebody, to reveal their most beautiful secret selves to the world, to find their identity in how their body looks and acts.

To be brave, they will have to battle that message, courageously swimming against the stream to show the truth about themselves:

They are beautiful – without make up, fully covered, in whatever body shape God has given them.  Courage is to reveal the beauty within – to stand up for truth and honor and love in the face of all that opposes, to defend the defenseless, to determine ideals based on a standard completely different than the cultural standard of the day and to act upon it.

Brave to face an onslaught of ideas that differ from truth and goodness.

Brave to face the opposition of a culture.

Brave to shine like stars in the darkness.


Don’t kiss that frog!

my dearest little Sara,

well, it has finally happened.  the chase has begun; the giggles and long blond hair must’ve got him.  i must confess, when i saw him put his arms around you and lean in for the kiss, i was mighty proud when you shook him off and raced away.  i wouldn’t need to sic daddy on him after all.  you didn’t even look back to see if he was following you!  atta girl.

it may have been a dinosaur’s age ago, but i remember those playground chases.  all the girls, racing after one boy.  one boy, racing after all the girls.  i remember one recess when i was in the first grade, and we had cornered one boy under the play structure and tied him up (with what?  details.  can’t remember that far.).  all the girls took turns giving him a kiss on the cheek – except me.  i was far too shy and scared that my glasses would scratch him or some such.

he was my very first boyfriend (and the last for a very long time).  ah, dear dennis b..  i guess he preferred to be the chaser rather than the chase-ee.

oh, my little honey girl, do not chase those boys you want.  let them chase you.  and do not let just any boy catch you, baby.  be a butterfly and choose your catcher with care.

you’ve taken to loving fairytales recently, and the other day when we read “the princess and the frog” i found myself cringing at the lesson you were learning from this pretty princess and her toady friend.  in the fairytale of the “princess and the frog”, the frog retrieves the princess’s golden ball in exchange for 3 meals from her plate and 3 nights in her bed, after which he turns into a royal prince who had been cursed with an ugly appearance.  oh, how expensive that favour!  that frog certainly got what he wanted from the exchange.  i do understand that the morals of the story (at least, our version) are to keep your word, and to look beyond appearances, and i can appreciate both of those – do keep your word and do keep in mind that a person’s exterior is not necessarily a reflection of the heart.


do not kiss frogs.

kiss princes.

we girls tend to believe that our kisses and love can transform the ugliest of suitors.  we look beyond the things that really matter:

  • how he treats his mother
  • the jokes he tells
  • his attitude toward people who are different
  • the way he looks at and treats other women

and plenty of other very important things, and we give ourselves away.  not just our bodies.  our thoughts, our desires and hopes, our hearts.  and we still believe that we can somehow transform that ugly, ugly frog into the prince we desperately want.


frogs do not transform with kisses.  at least, not permanently.  if that frog you fancy morphs into some charming fellow with your kiss, you can trust that eventually he will probably morph back into his most comfortable form.  ribbit.

but kiss a prince, now – if you kiss a prince, he will stay a prince.  he wasn’t a prince to impress you, to win your favour, to get his pleasure.  he was a prince because it was in his nature, his character, and his choices.  and if eventually you do not want his kisses, or he does not want yours, he will still be a prince, and you can bid each other adieu with hope and thankfulness, self-respect and respect for him still in your heart.

my darling girl.  your heart is a jewel beyond price.  you carry the treasures of your laughter, your ideas, your intelligence, your character – gifts to yourselves, gifts to others, gifts to the King of Heaven, and perhaps someday gifts to a prince.  be discriminatory.  guard the mystery of you while you allow the chase.  trust the wisdom of your Father and your daddy before you give away your kisses.

and kiss only a prince.

i will be forever grateful that i did, and forever hopeful that your prince will be as wonderful as mine.

love, mommy





The story of a house and a broken resolution

On January 1st, I asked Bob what he hoped for in 2012.  It took him a long time to process that question (you know, it’s really a light-hearted inquiry, right?), and he said, “A year without any major changes, no major decisions or life-altering moves.”

I think we are in the multiple-colossal-changes-will-rock-your-life decade, that decade of marriage and babies and career changes and other major changes.  For awhile there I thought it was just us, but it seems that when you hit 30, one big decision just leads to another big decision and there isn’t really space to breathe in between.  We went from a brief year of dating/engagement/marriage (and I mean brief – but then, we’d already known each other for 2 decades so why wait?) to a summer in Africa to two children, a life-changing chronic condition, and a minivan in the space of five years, which is a pretty average time frame, I think, for those who choose to get married, but seems like a crazy time warp experience nonetheless.

And then someone recently glanced at a wedding photo on our wall and said, “Goodness, a few years really makes a difference, doesn’t it?” and I noticed the laugh lines on my face, the little silver strands in my hair (only 6, but who’s counting?) and the tired “I-know-everything-‘cuz-I’m-a-mom” smile I wore – you know, that smile that new moms who really don’t know anything wear.


So a lot of these events sprung from our hoping and planning, with a little bit of the mystery of God thrown in.  Okay, reverse that: these events sprung a lot from the mystery (and grace) of God and a little bit from our hoping and planning.  We didn’t expect growing a family would take so long (that was before they were born; now we realize how short the time actually is); we never in a million years expected to own a minivan (all minivan moms had to overcome the shame of it at some point); and we certainly did not anticipate so many career and job changes.  Thankfully, thus far each beautiful (and even terrible) event that has come by has been allowed – maybe even given – by God.

So back to Bob’s non-resolute resolution (he doesn’t believe in resolutions – no one keeps them).  We broke it.  Pretty much immediately.  In a big way.

On January 2nd I was dreaming of the house we planned to buy in two years and happened to take a sneak peak at what was available in the neighbourhood we wanted when I stumbled across the house I knew I had always wanted.  When I showed it to Bob in the evening, he initially brushed it off, but then noticed a few things that he had always wanted in a house.  Nah.  But we prayed about it, thought about it, prayed some more, and visited a realtor friend of mine.  Long story short, a long list of snags unravelled and badaboom-badabing, we had bought ourselves a house.  Eight days after committing to a no-change year.

So much for New Year’s Resolutions.

Anyone want to help us move in the middle of March? (:

The one about Bad Words

I don’t know where children learn language from.  Okay, not true – they learn it from their parents at first, of course, but we humbly don’t want to accept the credit (blame) for it.  The first worst word I taught Sara was s-t-u-p-i-d.  You see, I’m so afraid of that word already that I can only spell it.   Even yesterday when I watched “Crazy Stupid Love” and was telling Bob about it, I had to spell it.

That word actually first came from the movie “Cars,” I believe, because when Sara first blurted out “Stupid car” and I stared at her in shock, she explained that that was what the blue car said.  (Actually, I think Disney teaches our kids a lot of words we really don’t prefer – it’s just that we don’t hear them when we watch the movie, and they sound much much much worse coming out of a preschooler’s mouth).  So over Christmas, we were working very hard on eliminating the word stupid from Sara’s vernacular, because for some odd reason, that word really stuck in her mouth and came out a lot.  And sounded awful.  So the deal was, if Sara said stupid, then I got to eat her advent chocolate, and vice versa (I think I lost more chocolates than she did – I really had no idea how commonly I used that particular offending term).

I think we had mostly eliminated the word from Sara’s lips by early this month.  She now hears it anytime anyone says it, and looks with great reproof at the offender (or with shock at me, depending on who said it).  I believe my sister, my husband, and some friends of ours have been the most recent ones to declare something stupid.  No one gets away with it in our house.  We are experiencing a stupid reform in our family.

Well, we had one of those days two days ago.  Over one 30 minute period, I had three meals cooking on the stove, two children screaming for attention, and two very important phone calls to contend with.  At one point, I hung up the phone and hollered, “What a stupid day!”

Oh boy.

Twenty minutes later I was having a flashback to my childhood as my mouth foamed with the soap Sara had declared my punishment.  She won’t easily forget how disgusted I was by the soap.  She was very proud of the fact that she had mommy eat soap.  And I don’t think she’ll dare to make the stupid mistake again now that she has actually seen what happens to the mouth that says it.

Well, today my youngest added her foul mouth to the mix.  She said something that made my jaws drop and my eyes widen.  And then I couldn’t stop giggling.  “Ali, no,” I chastised her.  Sara watched me giggling, her own expression calculating and determining that Aliyah had said something hilarious.  Meanwhile, Aliyah stood at the window and repeated herself.  Loudly.  Clearly.  Again and again.

Gangsta attitude. Ish.

Honestly, I did not teach her that one.  Someone is going to have to pay.

Covering my mouth and trying desperately hard not to keep laughing, I shook my head at Sara.  Sara said it anyway.

“Aliyah said ‘fuck.'”

Yes.  Yes, she did.

Who knew what could come from those innocent lips?

PS.  Okay, I have to admit, Aliyah was attempting to say ‘fork.’  Regardless, she found the word very satisfactory.

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