The Disease (in short form)

Our daughter Ali was diagnosed, the week before her first birthday, with a rare, inherited, metabolic disease called Cystinosis, so rare, in fact, that computers underline it in red as a spelling error.  There are only around 50 people in Canada with the disease; 500 in America; 2000 (diagnosed) in the world.  Because it is an “orphan disease,” pharmaceuticals are less likely to adopt cystinosis for research purposes because it lacks financial benefits; however, the medicine used to treat cystinosis patients is currently in clinical trials as potential treatments for Huntington’s disease and Parkinson’s disease.

Cystinosis is a metabolic disease whereby the amino acid cystine is transported into the cells but not out.  Over time, cystine build-up in the cells destroys the body’s major organs, including the kidneys and the eyes.  The disease can be managed with a medication called cystagon (or cysteamine), which must be taken every 6 hours around the clock.  Cystagon has some interesting (and kind of annoying) side-affects, such as nausea and vomiting, decreased appetite, and creating a different odor in those who take cysteamine (my mother-in-law says our daughter smells like hay; to me, it smells chemically sweet).

Most cystinosis patients have already undergone some kidney damage by the time they are diagnosed, and as a result need to take a cocktail of supplements in addition to the cysteamine, also at 6 hour intervals.  In Aliyah’s case, her quarterly medicine bag contains potassium (K-Citra), sodium phosphate, PMS dicitrate (a bicarbonate compound, as I understand), carnitor, calcitriol, and iron, as well as omeprazol (to control the acid in her stomach and help tone down the vomiting).

Discovering Aliyah

Patient diagnosis often starts with a child’s failure to thrive.  In Aliyah’s case, we were first concerned with chronic constipation, a situation our GP largely ignored (after all, what baby doesn’t have problems pooping at some point?).  She had been gaining weight beautifully until 6 months of age, at which point she was in the 50th percentile for weight and height (kind of a surprise considering the, ahem, petiteness of her parents).  Shortly after we introduced solid foods, we began noticing some changes.  As already mentioned, she was constipated (sorry, Baby; I know this is a little personal).  Secondly, she had a puny appetite, being satisfied with ridiculously small amounts of food.  She was still nursing, so I didn’t assume this was a problem.  Then one day I introduced water, and the world as we knew it ended.  Aliyah was a voracious water-drinker, and learned by seven months how to drink from a regular cup; she would drink up to 8 cups of water a day; she stopped wanting formula; she started losing weight.  By 10 months, at her 6-month vaccinations (I was late, and now I thank God for that!), the nurse weighed her and was shocked to note that Aliyah, who had been 14 lbs at Christmas, was now 13 lbs in the beginning of May.

In a bit of a flap, I made an appointment with our GP, who took note of her growth curve (she had, in fact, fallen right off the chart), and promptly referred us to a pediatrician, who scheduled a barrage of tests.  Upon seeing the results of those tests (lots of sugar, protein and white blood cells in her pee; clearly not a diabetic by her blood), he immediately recommended we be admitted to the hospital – not emergency, but actually admitted in.

It was the beginning of the scariest time of our life.

Incredibly enough, Bob had already stumbled upon the Cystinosis Research Foundation as a result of his googling the symptoms (this was kind of nice; the doctors referred to us as “smart people” after Bob named the disease they were searching for before they told it to us).  It turns out, the previous week’s tests were only the beginning: Aliyah had ultrasounds, nuclear scans, x-rays, and hourly bloodwork as the doctors tried to discover what was going on in her crazy little body.  We were shocked to learn that she has a duplex kidney (unrelated to cystinosis and causing it’s own problems).  We were completely overwhelmed by the amount of medications the nurses were pumping into her, through the ng-tube in her nose.   We were confused, watching Aliyah’s happy personality disappear into what seemed like a depression.  The fog of our fear hung heavy.  We knew only that our baby was sick and we couldn’t help her.

Three weeks later, we had a different daughter in our arms.  As her caloric and electrolyte intake increased, so did Aliyah’s energy.  She became a chatter-box, full of words and greetings for people.  In her stomach, she had a g-tube to help her take the bitter-tasting oral medications and the calories she needed to help her grow; we had an arsenal of medications and a binder loaded with information; we had a team of 9 professionals who would follow us through Aliyah’s cystinosis journey.

We were finally going home.

And our lives will never be the same.

4 Comments (+add yours?)

  1. Nettie Wiens
    Jul 23, 2011 @ 05:31:47

    This journey you are on – which you are sharing so personally and from your hearts point of view, takes us right into your life, into Aliyah’s life, and into your family life. We have been there for some of it …. and remember different moments … the first questions, (is everything o.k?) checking it out routinely at first, then the sudden quick spiral of her going down and concerns going up. There are some unforgettable memories and amid the pain, there are also some very tender memories. That beautiful little wave of hers from her hospital crib – with her gentle smile, and sweet “hi”. Her command, “walk!”. She meant it. She loved it. She walked into our hearts each time we walked with her. We have been learning too – and celebrate each time the meds go well, seeing her new-found energy and determination, as well as from your unique new life, and how you and Bob are stepping into it with struggles and faith going hand in hand. The faith lessons are incredible – not one bit easy, not the choice we would have made, yet, there is a sacred learning that is unfolding and we find it a mysterious privilege to see God walk with all of us in very personal ways through this deep life change.


    • Crystal
      Jul 30, 2011 @ 04:56:34

      This is beautiful, Mom. Thank you for teaching me to love words, learning, and seeing life unfold! You’re right; it is a sacred learning and a mysterious privilege, even as I would have done anything to spare Aliyah from this disease. But she will love and laugh and learn and grow and it will be a part of her identity…and of ours, and even of yours!


  2. Sheri
    Jul 24, 2011 @ 03:23:20

    Thanks so much for creating this blog and allowing us to be able to share in the journey. Love you!


  3. Colleen
    Jul 29, 2012 @ 14:57:33

    I just found your blog and am in awe of your writing and your beautiful approach to life and raising Aliyah. My son also has cystinosis. We experienced a similar journey. After many complications, miracles, and answered prayers, he is now 22 and has a great quality of life and our family remains intact and very loving and supportive. It was a challenging journey, but filed with love and many life lessons. I look forward to reading your blog. Much love to you and your family.


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