“It’s so curious: one can resist tears and ‘behave’ very well in the hardest hours of grief. But then someone makes you a friendly sign behind a window, or one notices that a flower that was in bud only yesterday has suddenly blossomed, or a letter slips from a drawer… and everything collapses. ”― Colette
On January 17th Mark and I met with India’s neurologist, her nurse, and two geneticists from the “Care for Rare” team at CHEO. India didn’t come with us. She hates going to the hospital. Besides we thought we might have to ask some difficult questions. Over the past five-years we’ve met with many specialists and though I’m always nervous beforehand, I remember being especially so this time. My entire body felt heavy as if I’d filled my pockets with stones. When we sat down in the C9 waiting room I said “Fuck” really loudly and Mark had to shush me. These days I swear constantly without even realizing.
The meeting was held in a small white room with a window that looked out on the parking lot. For those of you, who’ve never spent time in the medical system, little rooms are never a good sign. Mark and I sat on two office chairs on one side of the room and the two geneticists sat on the examining table with India’s nurse, while her neurologist leaned against the sink. All the usual pleasantries were made quickly. The young geneticist who’d we met before and liked took over. He informed us that they didn’t have a name for India’s illness. He said that she had a deficiency of acid ceramidase. This deficiency is shared by people with SMA, Diabetes Type 2, Chronic Obstructive Pulmonary Disease and Farber Disease. The mutated gene at the root of this is ASAH1. Very recently it was discovered this mutation is responsible for Spinal Muscular Atrophy plus Progressive Myoclonic Epilepsy. However India’s mutation is expressing itself in a way the medical community has never seen before. Most patients—there have been about four so far that we know of—begin getting ill earlier than India did and typically their symptoms begin with the usual signs of SMA and the seizures follow later. At present, India is one in seven billion.
For this reason I’ve been trying to imagine what seven billion looks like. I’ve tried picturing Lego pieces and pennies but I still can’t see it. I read at The World’s Best Ever blog that “standing shoulder to shoulder all seven billion of us would fill the city of Los Angeles”. This is the best way for me to get my head around the number. I understand big cities.
Mark and I both have the mutated gene. I couldn’t get my head around this at first, but Mark told me to think of it like we’re both wearing the same blue sweater, only my left sleeve is unravelling while his right sleeve is. This mutation is not a big deal for us but unfortunately India inherited both our mutations so both her sleeves are unravelling. Whenever I envision this, I think of the character of Lavinia in Shakespeare’s bloodiest play, Titus Andronicus. I once saw a production where after Lavinia’s hands and tongue were cut out by her father’s enemies Demetrius and Chiron, long red ribbons sprouted from her sleeves and mouth and coiled like snakes about her.
When we were waiting for the results of these last tests I asked Mark how it could be possible that our child had such a rare disease? And he said that was probably what all parents in our situation asked themselves. This may not seem particularly complicated answer but I find it comforting. I never ask myself why my daughter, why not somebody else. After all to do that would feel as if I wished it on another family and I wouldn’t do that to my worst enemy. I’m not angry, just heartbroken.
So where are we now? The best way to express the situation is dire but not without hope. Currently an Ottawa a lab is testing India’s blood with three different substances to see if they can improve India’s levels of Acid Ceramadise; a doctor with Rare for Care is testing orphan drugs to see if they can provide her with answers, experts in France and New York are also at work, meanwhile a lab in Alberta is doing a metablome to make sure her organs are working correctly. I’m grateful for all the attention. The best minds are working very hard to fix India. While this is comforting, I’m terrified. Each day my girl grows a little more fragile, a little farther away.
How does India feels about her situation. To be frank, I’m not sure how to answer this. I don’t know how deeply she’s able to contemplate her predicament. The seizures are every five seconds and last about five seconds. This means any thoughts she has are constantly interrupted. For her one day slowly merges into another and she loses track of time, the day, the month. At night is often when she shares her thoughts. Not long ago, while I was lying in her bed with her she asked me, “How come, I’m like this. I used to be normal.” I didn’t know what to say so I told her the truth that I don’t know.
As a short story writer it’s my job to invent truth. Tim O’Brien a writer I admire says: “A lie, sometimes, can be truer than the truth, which is why fiction gets written.” To me, a story—no matter what kind—must in order to be accepted by a reader feel authentic. I can’t think of any worse criticism than to hear a reader say my story didn’t feel real. But I often find myself wondering were I to write about India’s story as a work of fiction would it be believed? It sounds like one of those after-school specials I was so fond of growing-up. Sometimes when I hear myself telling our story I have to fight the urge to laugh. Other times I want to grab people shake them ask, “How the Hell did this happen?