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… **


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