In celebration of chub: an Aliyah update

It has now been nearly three and a half months since Aliyah’s diagnosis, and life has certainly changed for our family!  Our little munchkin has gone from frighteningly tiny and lethargic to a still-tiny-but-not-scary-tiny bundle of ridiculous, non-stop energy and laughter.  Here’s the update.

The food update

Some have told me that a baby/toddler will never starve himself, no matter how little he seems to eat.  In Ali’s case, that does not ring true as many cystinosis kids have a really hard time eating.  To this day, I’m not quite sure why: is it cystagon that suppresses the appetite, or cystinosis itself?  Not sure.  Regardless, one of our earliest concerns about her was how incredibly little she would eat at any given meal.

That concern continued for a long time.  Many families whose cystinosis children have g-tubes have been really concerned that their baby will not take food orally.  For the last three months, we have laid off oral feedings with Ali, choosing instead to hope that she’ll gain weight through tube feedings.  We would still sit her at the table with food, but her preference by far was to toss it over her high chair rather than put it in her mouth.

Well, in recent days, that has begun to change.  She has definite favourite foods now: spaghetti, carrot sticks (to suck and slobber on and then try to feed to mommy – gross!), yogurt (vanilla only – just like her sister), cheerios, peaches.  At supper time she practically falls out of my arms to get to the food!  She also loves to drink her formula – through her syringe.  Sometimes she’ll drink half the dose!

Bottom's up!

Certainly, she does not eat enough to sustain herself, and still gets the full tube feedings while we attempt to grow into the growth chart, but it is a definite improvement and encouragement.  People often ask if she’s allowed to eat through her mouth.  Heck yes, and anything she darn well pleases!

The Growth Chart Update

That said, I guess chub is a strong word for our tiny little Ali, but truly, she has gained about 1/4 of her birth weight in 3 months!  When we were admitted to the hospital two weeks before Aliyah’s 1st birthday, she weighed 11 lbs – barely more than some babies’ birth weight!  At her 1 year check-up (3 months late), the scale shouted 16.5 lbs!  And counting!  Every gram brings her that much closer to that beautiful day when she can face forward in the van. (:

The Cystine and Electrolyte Update (**and, to me, the most important of the updates**)

Almost three weeks ago, Aliyah had her 3-month cystine appointment, the time when her blood is tested for cystine levels in her body.  The first test on June 3 revealed her levels at 3.8 – when they should be well below 1.  Today, the pharmacist called to let me know Ali’s white blood cell cystine count is now 0.7!!!  A phenomenal drop – but not quite the target level of 0.4, so now our cystagon levels are on the rise again.  Apparently it’s due, in part, to the speed with which little Ali is gaining weight.  No complaints here!

Our doctor decreased two of her supplements, charted her in the 3rd percentile for height and weight, commented on her incredible astounding vocabulary.  (She has several dozen words that she uses on a regular basis.  They include whale, book, puppy, bubbles, bath, more, thank-you, and various animal sounds).

The Motor Development Update

Two weeks ago, our home care nurse visited, bringing with her a visitor – a physiotherapist to look into Aliyah’s lack of mobility.  Now fifteen months old, Aliyah still had not rolled from lying down to a sitting position, nor did she crawl (a source of frustration to me; she just grins and lets Sara bring her everything she wants, the little queenie).  Within two days of encouraging particular movements, she has, today and for the first time, sat up by herself!  (<– Note: that was last week, now).  While camping last weekend, Aliyah discovered transitioning from sitting to standing, but didn’t seem interested in continuing the exercise until today, when her bath consisted of up-and-down, up-and-down from bum to feet, with a lot of happy and proud giggles.  One of the most fun things I hear these days is, from Sara, “Yay!  You did it, Ali!”  and an echoing, “Yay!” from Aliyah when she accomplishes such a feat (she loves cheering for herself and does it quite regularly).  Now, she is beginning to scooch on her bum from one place to the next, and has started pulling herself up on any piece of furniture nearby.  This is SUCH a joy – and now we have to baby-proof the house again!

It’s not all easy.  Some days I miss her flat, perfect tummy – with no tube in it.  Her hair and skin and breath has started to release the faint chemically sweet odor of cystamine – and I miss that fresh baby smell.  She still throws up on a fairly regular basis (particularly if she bonks her head pretty hard).  Bob and I look forward to a break in the night-routine, and know that Aliyah won’t get that.  I wish, sometimes so deeply that it hurts, that she did not have this horrible disease.

But she is growing – she is happy – she is a fighter and a cheerleader and a laugher and a breath-takingly wonderful baby girl.  We are so thankful for her, and so proud of her.

We named her Aliyah, which means “to ascend” in Hebrew.  Our prayer is, indeed, that she rises high above her condition and lives life triumphant, joyful, and free.

Her next appointment is the eye appointment next week – and then in November another cystine check.  And so the routine carries on.


11 Comments (+add yours?)

  1. Nikki Nieboer
    Sep 19, 2011 @ 20:35:16

    Wow Crystal!! What an incredible update. Praying often for your family.


  2. beth@redandhoney
    Sep 19, 2011 @ 21:46:10

    So much great news! Yay! We’d love to see you guys again sometime…


  3. Crystal
    Sep 20, 2011 @ 02:06:12

    Thanks, Nikki, for your prayers! Beth – we’re prepping the basement – lights are done, getting the area ready for guests to stay overnight should you choose to do so! (: When’s your next visit to Calgary?


  4. Elesha
    Sep 20, 2011 @ 03:21:19

    I loved reading this Crystal! How exciting it is to see Aliyah responding well to treatment and improving so much already. What an answer to prayer! We are praying for you and Bob, Aliyah and Sara and we’ll keep on doing it. Love you guys!!!


  5. Chrisaline
    Sep 20, 2011 @ 03:59:32

    Thank-you for the update. I’m happy to hear of Alijah’s weight gain and her change in activity levels. We’ll keep praying for you guys!


  6. channing
    Feb 22, 2012 @ 13:13:28

    I have a two year old little girl who has Cystinosis. Its a constant struggle and battle to get her to eat. She will eat well for like two weeks then not eat at all. What did you give her through her g-tube? Did you puree foods and push through there? I need any help and suggestions I can get 😦


    • Crystal
      Feb 22, 2012 @ 15:23:38

      I’m with you on the constant struggle. We have the same thing happen – several weeks of great eating, then several weeks of only g-tube food. We haven’t pureed anything; we just put formula in there four times a day (to a total of 460 mls). We’re in a stretch of not eating much right now. All we really do is include her at all meals, make sure some of her favourite foods are there, and let her experiment. Right now she’s not interested in cantalope, so I just keep including it in all our snacks and she plays with it, shares it, nibbles on it, but doesn’t really eat yet. It’s always a guessing game as to whether or not she’ll eat. Good luck! I’d love to hear your story.


      • Tahnie
        Apr 06, 2012 @ 23:46:46

        Hi! I just wanted to chime in and say it is completely normal for toddlers to have strange eating habits! I have Cystinosis myself, but my daughter, who turned two in February and is healthy, has crazy eating habits! Don’t get discouraged! They often exhibit control over their lives by being very very picky about food in this developmental stage!

        Just wanted to share a little encouragement! 🙂

      • Crystal
        May 26, 2012 @ 03:26:28

        Thanks, Tahnie. Really, some days I can’t tell if it’s just toddler-dom interrupting her eating or cystinosis. Usually when the food just stays in her mouth for ages, I’d guess cystinosis…when she’s playing with it, spitting it out, or being especially picky, it’s just the 2-year-old coming out. Thanks for the encouragement!

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