This is a very condensed version of India's story. For a more complete picture of India and our life with her, read her mothers' blog: Fall On Me, Dear.
India was born perfectly healthy.
She grew and progressed normally. Happy. Healthy. Full of spirit.
One strong little girl. Always was.
When she was little she adored horses, singing, drawing, and fashion. Until she got sick she loved to ride her groovy purple bike and play soccer. At gymnastics she was the girl who climbed the highest up the rope. It’s her dream when she grows up to travel the globe. So far, she’s been to England, France, Spain and the States. And she loves to sing. By six we had her enrolled in lessons and by ten she could send shivers up and down your spine with the power of her voice.
At the time of her death she was still a bright, caring, talented, occasionally bad-tempered teenager, pining for a love of her own –like a million other girls her age.
India and her parents –Christmas 2005.
In 2007, on a trip to Cape Breton, India began falling down every afternoon on her way to play at the beach. At first, it seemed like simple clumsiness. She’d recently gone through a growth spurt. When the falling became more frequent we began to worry.
That August, India was diagnosed with absence seizures. We were upset by the diagnosis but reassured by the neurologist, who told us that her seizures could be controlled with medication. However, it wasn’t long until the medications stopped working so her doctor began trying different cocktails of anticonvulsants.
Over the past six years, India has tried many medications without success. Medications so strong that at times it’s been difficult to tell which symptoms are caused by the disease and which the drug. Many of these expensive medications seemed only to aggravate her condition. For two long years she was also on the MCT oil diet, a modified version of the Ketogenic diet administered out of The Hospital for Sick Kids in Toronto –five hours drive away from us– but by late 2011 it too had stopped working. This rigourous and demanding diet left her so weak and vulnerable that it precipitated a terrible period of big seizures –Grand Mals, as most people know them– that lasted for six months.
At that point, running out of options and having to spend months at a time in hospital, we enrolled ourselves in a genome study called FORGE (Finding of Rare Disease Genes in Canada) to find out if there was a genetic cause for India's condition. We knew it would be a long wait for answers but it wasn't until late 2012 that we got any results. By this time India was in bad shape. From a diagnosis of Absence we'd gone from Juvenile Absence through Juvenile Myoclonic to Myoclonic Absence – all mystifyingly incomplete diagnoses. Her seizures were now coming every two minutes.
Over 2011 India started to complain of 'wobbly legs'. At first this happened every couple of months. She would suddenly become unsteady on her feet, and panicky, she'd call for support. These episodes would last for a day... maybe two, and then were gone. Then, as with everything about this disease, things got steadily worse and by Christms of 2011 she could no longer walk unaided. In addition her hands trembled, she started to have trouble hearing and her voice developed a strange, unnerving quaver.
She is now basically bed-ridden. Unable to walk, or hold a pencil, or worst of all, carry a tune. She speaks in a barely audible mumble, unable to get out more than a few words at a time and has a great deal of difficulty hearing, all the while continuously falling unconscious.
India has a genetic defect. One tiny messed-up gene is clogging up the cellular processes of her nerves. Unable to rid themselves of Ceramide, the cells of her Central Nervous System (the spine and brain) are slowly choking to death. This is why she can't walk. The neurons responsible for communicating with the large muscles of her limbs are unable to properly perform their job. This part of her condition is similar to another well-known disease: Spinal Muscular Atrophy. Indeed we were told that she has something newly-discovered called Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME).
But not. The few cases which can be found worldwide bear only a surface resemblence to India's case. Their seizures are a secondary, late-stage aspect of their cases, India's illness began with seizures and it wasn't until she'd had them for four years that the muscular atrophy appeared. She has what they call a Novel Defect. Unknown. Her neurologist refers to it as PME-SMA (the inversion of SMA-PME reflecting the predominance of seizures over muscular atrophy) but it really has no name.
The kind of work a lab is required to do to get to point where a viable treatment option is possible requires many hours of intensive effort and the mastery of many difficult new techniques. To keep her memory alive we intend to get them as much help as we can muster.
India has many types of seizures, all at once, rendering her unconcsious. Her eyes glaze over, the muscles of her limbs and mouth twitch, and her head drops to her chest. They do not last long: from three to fifteen seconds. When she comes-to, she sometimes forgets what she was involved with, sometimes not. In the early days she would often talk right through them, not even aware that anything had happened. They have never affected her mental capacity. She has always been the independent, cheery and bright-spirited girl we've known since she was born. But from many-hundreds she has gone to thousands of these episodes per day.
At first they were about ten minutes apart. Now, in July of 2013, they are coming every three to five seconds. To date, the exact cause of the seizures is not known and there is no known mechanism to stop them. It progresses until death.
One month before her death she started to experience horrific hallucinations which over the next three weks rapidly increased in severity and frequency. After a series of gran mals she lost the ability to swallow and we were obliged to take her in to Rogers House, Ottawa's children's palliative care facility, where her illness was managed by the amazing and caring staff. We stayed there with her, free to attend to her as her parents, in what turned out to be her final week of her life and were with her during her final moments.
If you want more insight into the weeks leading up to her death please visit her Facebook Page.
India LOVES Korean noodles.
These were brought to her by a friend directly from Korea. July 2013