Monday, 12 October 2015

Humatrope 7: From the 13th Floor

Humatrope collar: used alcohol swabs, needle caps, words of love
Of the swirl of confusion that is my memory of receiving my daughter's diagnosis from the paediatrician, this sentence stands out clearly: If I was going to pick a disability, I'd have PWS over Down Syndrome any day. Until a few moments earlier, when she led me into her private office and graciously invited me to google it there, alone, I hadn't realized my two-month-old baby had a disability at all. I was ill-prepared to feel grateful for the relatively encouraging diagnosis, or to contemplate a choice between the two. I wouldn't have picked either one.

My first reaction was fleeting, just a glance at the tiny, open window, 13 storeys up; and a brief calculation of the best path to that window, over the desk on which sat the computer... the computer. Google it? No thanks. I'll sit here in the semi-dark, and stare at this beautiful, sweet, perfect, 2 month-old baby with the sparkling eyes. She fills me up and smells like butterscotch.

One dead of silent night in the NICU* I asked the nurse - whispered to her, and it still seemed too loud: You've seen lots of babies, all sorts of cases. Do you think it's possible this baby could be... dull?
Oh, no, not this baby. Just look at her eyes.
*Neo-Natal Intensive Care Unit

I hoped it was the antidepressant I had continued taking throughout my pregnancy, that had seemed so necessary and recommended. My mom thought she just needed ripening. She was beginning to show some spunk, we thought. We'd even heard her cry, kind of. That's why I had gone to what I thought was an ordinary 2-month check-up, merrily alone: I was clueless. She had sparkly eyes! As I sat with her in the dim, and the doctor saw to her other patients, my husband, also clueless, but now alarmed, was rushing there from work. The doctor had called him herself.
Tassles: needle caps, found pearls, extra beads
We did eventually google it. A lot. At least my husband did. I prefer my bad news in small instalments, don't like to dwell too much upon the future - especially since the present doesn't much resemble any of the permutations we were advised to expect. I get the main points from my good friend, Heather, president of the BC Prader-Willi Association. She keeps me apprised of developments: clinical trials and research; supplements and diets; new babies* and untimely deaths; controversies about Human Growth Hormone, dealing with rigid behaviour, scoliosis surgery options; a remedy for skin picking that works; info about types of alarms for fridges, and GPS for kids running away to seek food; heart-wrenching anecdotes about ordinary people in extraordinary situations added to the mix along with all the other stuff parents of all sorts must deal with.
* one or two in BC per year, or 1 in 20,000 world-wide, across all populations. The least rare, rare disease, we are told - for whatever that's worth

PWS is bad science fiction – a cruel kind of torture that morphs from failure to thrive, to an all-consuming, insatiable hunger just a few years later. A month after receiving the diagnosis, we attended our first BCPWSA conference, smashed head-on into the towering brick wall of our reality. Driving home that evening we were silent, absolutely deflated, pinned down by heavy piles of crushing debris. But glimpses at the back seat, lit by passing streetlights, showed a sleeping angel. Introduced by a social worker at the BC Centre for Ability, Heather had written in her first email to me, "Hi and Congratulations. I will give you some of the advice I received, which was just to love that little girl and try not to let the fear override the joy of your new baby. Many children are doing so well and there is a lot of research happening that can really change their futures." I decided to go with that.

I know we are very lucky. The most bizarre, disturbing - and the most-feared - hallmarks of Prader-Willi Syndrome - never-ending, over-powering hunger; ceaseless food seeking; obsessive-compulsions; skin-picking - are, so far, (knock wood) absent. They're long over-due and probable, but for now our lives are minimally affected (knock on wood): we don't lock our kitchen cupboards, we leave food in plain sight, we don't give constant supervision in case she should acquire it in some stealthy way and cram herself so full it backs up, is spewing from her mouth as she tries to stuff more in and her stomach tears in several places because she doesn't vomit or feel much pain*. Fingers crossed and knock on wood.
* according to one study, G
astric Rupture and Necrosis accounts for 3-6% of deaths in PWS. The unsupervised eating binge usually occurs at a family holiday celebration, where everybody thinks somebody else is monitoring food intake. When everybody is watching, nobody is watching

Incredibly, our daughter tells us she is full, at which point she stops eating. No credit to us. She even magically limits herself to the 1200 daily calories her whacked-out metabolism runs on. The only thing I have to do is provide healthy food and limit bad choices: 1200 calories leaves very little room for treats, so they are a big deal, infrequent, stingy and savoured. Though there are troubling signs the transition may soon be upon us, so far we've had it pretty easy. Knock wood. (You'd think I was superstitious...)

The biggest challenge has been cognitive. In the giant Gelatin Mould of Life, learning, for her, is like wading through shoulder-high Jello to read the backwards writing on the bottom of the Pyrex bowl. But not to worry: it's strawberry Jello! It smells good! And it makes everything look so pretty, and pink.

Her sweet personality goes a long way: she's gregarious - especially to dog-owners - cheerful, fun, kind, naturally optimistic, brave and strongly attached. She connects deeply and opens her heart and her imagination to anyone who shows a fleeting interest, sharing her kooky world of witches, Hansel and Gretel, vampires, sharks, Terry Fox and his robot leg, bullies who recoil at the colour pink, and the ever-so-handsome Everly Brothers. Did I mention she loves dogs..?

There are some minor hassles and endless appointments: endocrinologist, opthamologist, orthopaedic surgeon; brace fittings, swallow and feeding studies, stim tests, nightly needles, tutoring, blah, blah, blah. She rolls with it, looking forward to the appointments like she might a play date, making a non-issue of the shots. A brace for scoliosis is the newest challenge. She hates it, but she endures it. During her daily one-hour break we rub her skin, give her a good scratching, scrub the stinky brace with Dr. Bronner's and alcohol. Switch out undershirts. Tickle, wrestle and hug.

She almost never complains, but I don't blame her when she does. For the most part, she smiles as she pushes her way through that thick Jello, eyes sparkling, patting every dog along the way, hiking her pants back up over her brace, and teaching me about bravery, gratitude, and enjoying life. If I had to pick between PWS and Downs, I still wouldn't choose either one. I would take away the yoke from her neck in an instant - but I would not change her for the world.

Sewing details here


  1. Hi Leah,
    It was such a pleasure meeting you at Denise's recent Art Salon. I was inspired by you then and even more inspired by this moving and beautifully written blog. I hope you find a place to show this magnificent piece... a metaphor for so many things.

  2. Thank you, Julie. Suggestions appreciated - I don't really know how these things work!