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!

Women’s Right to Choose: From my mother-heart

~ The Third Installment of this discussion ~

When listening to the members of our parliament address the “when is a baby a human” question and the abortion debate, one emotion rules over all: anger.  Anger in accusations spat out against one another, in indignation at the threat to rights, in defense of an already legal and – dare I say it – nurtured practice.

But anger is a secondary emotion.  It guards us against the real emotions, those too deep and profound to really express.  Not privately.  And certainly not publicly.

What does the anger protect, in this very heated and emotion-laden debate?  What are those deepest, most frightening emotions that cannot even find a voice, dare not find a voice lest they make some kind of moral statement about the issue?

Fear.  Fear of restrictions, the loss of our freedom and independence, the loss of our ability to continue living as we want.  But again, those are the shallow fears, the obvious ones.  Fear of judgement.  Fear of guilt…that ultimately, we might be wrong; that underneath it all, what we are doing might be the most abhorrent, devastating act we could possibly execute on the life of another.

And sorrow.

Abortion is, above all things, wave upon wave upon wave of endless sorrow, endless heartache, endless pain.  Oh, how I grieve for the terrifying, earth-shattering sorrow of abortion.

For the woman whose child is conceived in inconceivable violence, who carries in her body a baby who is as much genetically hers as any child she has or desires with the man she loves.  For this woman, violated unbearably in the beginning, and violated again either in termination or in a childbirth for which she did not ask.  For this woman, who faces choosing between ending a life, giving away her baby, or raising a child not created in love, my heart weeps.

For the woman who chooses to terminate her pregnancy, only to feel loss and grief and regret and sorrow, for whom dates and should-have-been-birthdays never let her forget.

For the man whose baby is terminated by the someone else’s choice, the father whose voice is silenced in political correctness and cloaked in the veil of women’s rights.

For the woman who, after years of desperately waiting and longing for a baby, or after losing pregnancy after pregnancy, would gladly love the baby of the woman who terminated hers for no reason other than convenience.  Timing.

For the woman told she must choose between her life and that of her child, whose child’s existence threatens her own.  And for the father who could lose them both.  It is a very real possibility that someday, my beautiful girl will face a pregnancy that could take her own life.  How can I judge this choice?  How does a mother face this grief, this choice, this reality, a grief too deep for tears?  For either choice is the extinguishing of a life, and the ending of a future.

During my  years of infertility and desperate hope, I heard stories of teenage girls getting pregnant, of women terminating their pregnancies, and my heart screamed at the unfairness of it.  Why so many unwanted babies, why so many babies killed, when I so yearned for one to love?  And then came Sara – the precious, beautiful, irrepressible gift of my oldest daughter.  Every day, I am fall-on-my-knees grateful for the courage and faith and strength of her birth mom.  Every day I thank God that this little daughter of mine lives and breathes and laughs and loves, that our lives have been forever changed by the light that is her.  And then Aliyah – our surprise child, who lives with a genetic disease that has drastically transformed our lives.  It is beyond comprehension that our Aliyah – a joy and delight of infinite worth, whose every single day blesses us with hope and love – would not, by some, be considered worthy of life.

Ask a woman, her belly blossoming with pregnancy, what she carries inside of her, and she will tell you – her baby.  Her human baby.  The woman who has just miscarried did lose a mass of cells – a mass of cells that constitutes human life – she lost her child.  The mother who loses her pregnancy in a street-mugging or car accident is not given the public dignity of grieving her baby lest it open up the abortion debate.  The heartache is unending.

The choice of abortion is never easy.  It is never pain-free.  And it is never, never without the loss of a life.

And in all of that sorrow and fear, I also do feel anger.  Anger at the refusal to even enter into a discussion about whether a fetus is a baby because of fear that “women’s rights” will be lost.  Anger at constant justification of an act that takes a life, justification that often brings up rape victims as those most vulnerable to lose abortions – when statistically, these women make up the smallest proportion of women having abortions.  Anger for the tens of thousands of babies in Canada that lose their futures because they were conceived at the wrong time in their mother’s life.  Anger that women’s rights take precedence over the rights of innocent, beautiful, silent babies.  Anger at my own fear to take a public stand on this issue lest I be labelled intolerant, backward thinking, uncivilized.

We cannot fight abortion with anger, judgement, condemnation, but to stand by and pretend that the loss of a baby is merely the termination of a fetus is equally impossible.  It is to ignore the depth and reality of this act, this choice, and to trivialize the sorrow and fear accompanying it.

Let us not use anger as our sword in this incredible issue.  Let us find compassion, grace, and truth.  Even as we speak as a voice for the voiceless.

Women’s Rights: A Rose By Any Other Name

~ The Second Installment of This Discussion

Before we have our babies, we scour bookshelves and magazines and internet sites, seeking out the perfect name for our little bundle of joy.  Sometimes we examine the meaning of a moniker in hopes that our child’s name will determine their character or in fear that it may tempt the fates.  Sometimes we select names by their sound or the way their letters look together (I personally like ‘y’s – I think that comes from my mom, who chose the spelling both my and my sister’s names because of the ‘y’).  We speak the name out loud to hear the flow of it.  Hopefully we check the initials lest they spell some unfortunate acronym that our poor child will have to live down someday.  When our second child took her first breath and the doctor crowed, “It’s a girl!” I turned to my husband and said wonderingly, “We have an Aliyah!” (I was not expecting her; I really thought our girl’s name was unnecessary).

Naming a business or a belief is equally important. Placing a name on an ideology automatically denotes its strength, its intent, and its direction.  But equally, it suggests an opposite, a flip-side, and that also must be considered.

For instance, note the term pro-life.  It suggests that it fights for life, for breath, and for the future.  The same name says it is anti-death, and that anyone who is not pro-life is then pro-death.

This is certainly not the case.

On the other hand, take a look at pro-choice.  Pro-choicers stand for rights, the ability to think and reason and make a decision.  Anti-choicers are therefore against choice.

Neither of these particular monikers hold all of the truth behind the ideology.  Pro-choice and pro-life are not opposite ideologies.  They are monikers promoting an image, radiating a purpose, and standing for a good fight.

There is one problem: only one of them can be right.  The ideologies they stand for are direct opposites.  But the battle is often fought on different terms and stations.  The arguments are not parallel; if they were, we might actually hear each other.

So let’s look at the names, then.

I am pro-life.  I believe in allowing people to live freely, to pursue their health, to have access to air and water and food.

I am anti-death.  (Let’s face it, none of us really look forward to that last breath we take, regardless of what we believe of the afterlife).

I am pro-choice.  I believe we should have a hundred million choices – from the smallest details of our lives like our clothes, our hairstyles, and our vehicles, to the largest details of our lives – whom we marry, when we have children (although, regrettably, that isn’t usually our choice), what career path we follow, where we live.   Choice is integral to independence and identity.  I started giving my babies choices before they could talk (in Aliyah’s case, that was practically in utero, but that’s beside the point).  Those choices often prevent major blow-ups, by the way (parenting tip number one).

I am also anti-choice.  Not all choices are created equal.  I am against choosing to steal, choosing to harm others, choosing to assert one’s will over another’s freedoms, choosing to assert one’s rights at the expense of another’s life.

And that is the point, isn’t it?

A Woman’s Right to Choose: The First Question

~~ The first installment in a heated debate ~~

Today in the Canadian government, Tory MP Stephen Woodworth put forth a motion that a committee examine a section of the Criminal Code that deems babies to be humans from the moment they have fully emerged from the birth canal.

This motion has sparked outrage from pro-abortion MPS of all stripes, and in the Canadian community at large, as it is an unapologetic attempt to criminalize abortion.  Since 1989 under Brian Mulroney, abortion has been entirely unrestricted, legal throughout the 9 months of pregnancy until birth and funded publicly, through a taxpayer-funded health system.**  We are one of the only Western nations without any laws governing this practice.

The anger in parliament and in Canada is understandable, considering the belief that it is “a full-frontal assault on a woman’s right to choose” (Quebec NDP Francois Bouvin).  Women have fought long and hard for the rights we have – the ability to vote, own property, receive the same rate of pay for the same work, among many others.  In a world where women’s bodies frequently are considered the property of men, we have also fought for the right to control our own sexuality, for the dignity of determining who, how and when the most personal and private parts of ourselves are shared.  These rights are pivotal to our freedom.  They are pivotal to our nature.  And they are pivotal to our humanness.

This, however, is the problem: we always respond to abortion as an issue of women’s rights.  That is not the first issue.  Before we can look at abortion as the right to choose, we have to determine one other thing: is the fetus a human being?  At what point does it become a human being?  Who determines if it is a human being?  For if it indeed is a human being before birth, then the very humanness of that fetus precedes the rights of the woman.

Woodworth admits that this is an attempt to criminalize abortion.  That is no secret.  He also, and very reasonably, said, “those who believe that a fetus becomes human at the moment of birth should have the courage of their convictions and be willing to expose them to an examination of the evidence.”

Why are pro-abortionists afraid to broach this very first of questions?  Could it be because there is a reasonable argument stating that the fetus is a human being prior to exiting the birth canal?  Is it that there is a scientific and logical argument that suggests life may begin before the first breath?  This is the first issue, before a woman’s right to choose – is a fetus a baby?  If pro-abortionists could seriously, scientifically, and reasonably assert that a fetus is not a human being, then there should be no issue of losing the woman’s right to choose.

I would suggest that the government and pro-abortionists, then, examine scientifically the nature of human life and its definition before suggesting that a woman’s right to choose is preeminent in the abortion debate.


** Note: Abortions are legal in Canada throughout 9 months of pregnancy, but statistically very few are performed after 20 weeks, the majority occurring up to the 13th week (the first trimester) of pregnancy.  Abortions performed after the 23rd week are usually chosen due to abnormalities in the baby or significant health risks to the mother.


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.


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