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“Yeah we all shine on, like the moon, and the stars, and the sun.”

–John Lennon

Rapunzel is my favourite fairy tale. I used to spend hours when I was four years old pretending to be her. I’d dress up in my mother’s prettiest nightgown, stick a pair of my tights on my head  and stand on the sofa waiting for the prince to rescue me. Much of the story’s allure was its imagery: the tall grey tower without a door, the full moon illuminating the witch’s walled garden filled with rampion, the  dense verdant forest where the prince hunted. Then, of course, there was  Rapunzel, lonely and bored, passing her days singing and combing her endless golden curls.

Naturally I never bothered pretending to be Rapunzel’s Mother. She was boring. But I’ve been thinking about her lately, how she must have despised herself for craving those greens. Did she hate her husband for the bargain he struck with the witch? When the witch came to claim her reward what did she do? Stand immobile and watch silently as her daughter was stolen, or did she—as I like to imagine—scream, claw at the witch’s face until there was blood, forcing her enemy to rip the girl from her arms. I never pondered the violence of this story until now. In the past it was all about the Prince and Rapunzel’s ultimate rescue.

This year, Mark, India and I spent Christmas at Gibson’s Landing on the Sunshine Coast. My parents live in a big suburban house overlooking the ocean. Their street is filled with wildlife, deer graze on their front yard, coyotes slink down the road. If there’s one landscape in Canada that’s truly the stuff of fairy tales it’s the Sunshine Coast. Take a drive to Saltery Bay and it’s all Arbutus trees, wet green forests, moss, and rocky beaches, turn North and drive past the village of Langdale, here the landscape becomes Alpine similar to where I live in Quebec but massive in scale. It’s a good place to think.

At the beginning of December, after five years of tests, drugs, diets, and mistaken diagnoses, we finally learned why India has been so ill. She has a very rare version of a rare disease called Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy. To make matters more complex, India’s form of this disease is so rare—the only stats Mark found were greater than one in a million—that we haven’t been able to find any information about anyone else like her even on the sites about  Spinal Muscular Atrophy (SMA). Of the four types of SMA,  to the best of our knowledge, India is most closely linked to Type Three. Her diagnosis would never have been possible without the efforts of Dr. Kym Boycott at the Neurogenetics clinical program at CHEO and a program called FORGE. We’re very grateful.

This is my understanding of the disease, now keep in mind I only passed biology bymemorizing the definitions. It’s caused by a genetic defect in the SMN1 gene which codes SMN, a protein used by all eukaryotic cells. The SMN1 gene is needed for the continued existence of our motor neurons. A lack of this protein can cause the death of neuronal cells in the spinal cord which results in muscle wasting.  This process accelerates during growth spurts. Lately India has been waking up at night because of the pain. We’re hoping she stops growing very soon. She can no longer walk., stand without full support, sit without back support or feed herself. There’s no cure for SMA and no treatments.

India was never tested for SMA because she was athletic and muscular plus although the age of onset can vary, typically its around three-years-old; she was ten when she started to get ill. An odd feature of SMA is that they’ve found that children suffering from it develop cognitively somewhat quicker and parts of their intelligence develop faster. This detail could have changed everything but nobody ever put much thought into it. Whenever India ended up in the hospital, all the doctors and nurses  would marvel at how smart she was in spite of the never-ending head-drops and seizures. Recently I read in her neurologist’s notes that he also was impressed by her ability to continue to learn despite her disability. Why then did they continue to test for progressive epilepsies  that  featured symptoms such as dementia and the rapid loss of intellectual functioning?

India doesn’t like to hear the doctors talk about her so she wasn’t with us when her neurologist broke the news. It was strange because she was in the room next door and we could see her through a one-way window. The first question I had for the doctor was if the disease was fatal. I had to force myself to ask this. He told me that the book was closed on babies and children with Type One and Two but not Type Three. After that I was so relieved the rest of what he said sounded like gibberish.

SMA is the genetic disease with the highest incidence of death in babies. One in fifty people are carriers, yet Mark and I had no idea that we were. I took every test available when I was pregnant.  I find it difficult to accept that I contributed to my daughter’s pain. It isn’t rational but I blame myself. For the most part, India is coping with the news, though like Rapunzel she spends far too much time alone. Fortunately she has her Korean soap operas and Japanese animation to keep her occupied. Today she woke up crying and when I asked her what was wrong, she said, “I just want to walk. I hate that wheelchair.” I told her I hated it, too and that I wished I could trade places with her. She said, she knew that.

At the Giant Tiger on Friday, there was a little girl about three years old with blond hair like candy floss, wearing big rubber boots and a pink parka, helping her mother with the shopping. Watching her, trying to heft a box of cereal into her miniature cart, I was reminded of India at the same age and I started to cry. In those days we lived on  the far end of Bayswater Avenue a long walk from the number two bus which we took to and from her nursery school. To distract India from the walk , I would tell her stories about a pony with a magical mane. Sometimes this would work and she’d gallop ahead of me. On bad days, she’d fling herself on the ground and insist on being carried. I did my best to be fair but at the time I was determined to raise an independent child so I refused to carry her. This meant the fifteen minute walk  would become thirty or forty minutes which drove me crazy as I hate being late. I didn’t voice my impatience but it drove me nuts. This makes me laugh now, for if I have learned anything at all from India’s illness it’s that the small stuff really doesn’t matter.

Tragedy shifts one’s perspective. Most days it feels as if everyone else is walking  around a house with a perfectly flat floor and I’m in that crazy crooked house with the slanted floor at the Museum of Science and Technology. A friend of mine who recently experienced loss put it like this, “You have to learn to navigate a new world.” For me, an element of this process is learning that even your relationships aren’t as they seem. Everything is topsy-turvy. The friends you once believed would do anything for you aren’t necessarily the ones that come to your rescue. Prince Charming comes in many guises and nine-out-ten times  the people who show up have their own sad stories.

Mark and I both view the new diagnosis differently. Obviously he’s upset that his daughter has a progressive illness, but he feels relieved to have an answer. He continually assures me that there’s much to be optimistic about. In France and theStates there doing drug trials and research is being done in gene and stem-cell therapies. Though logically I comprehend Mark’s viewpoint, I don’t share it. I’m happy we have an answer but it’s not the one I wanted.  Whenever I used to picture an ending to India’s story I always imagined a happy one with a magic medicine and miraculous cure. These upcoming treatments don’t seem real to me. In my imagination I picture them on the horizon, an unreachable constant and my girl locked in that terrible tower forever.

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