THE BLOG

Coping with My Twins' Rare Genetic Disorder

07/19/2013 08:06 EDT | Updated 07/19/2013 10:41 EDT

The neurologist slipped a piece of paper across table containing information about what could happen to my daughter, Annie. Hearing that this was a disorder with a broad spectrum of how it affects an individual meant that there was hope that Annie would be normal if she were to be at the mild end of the spectrum. I was shaken but hopeful, and no doubt in denial. Most of what I heard in that meeting was a garble, but what I did hear was the fact that this was a genetic condition. Genetic? I bit my lip hard in an effort not to cry. No one in that room knew that Annie was an identical twin. They were unaware of Audrey, our other baby at home. And when I told them, the looks of shock on the medical team's faces told me this was not good news....

When my husband, Kirk, and I discovered we were expecting twin girls that winter, the thought of four kids in less than four years caused feelings of excitement, disbelief, and overwhelming joy to overtake our hearts and minds. Annie and Audrey arrived in the summer of 2003. Big sister Lily was three years old, big brother Russell was two, and family life was a happy whirlwind. Completely unaware of the chaos to come, we embraced this season of busyness.

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Lily, Annie, Audrey and Russell

In January 2004, when she was only four months old, the unthinkable happened -- Annie experienced her first seizure. After a CT scan and days of waiting at The Hospital for Sick Children, we were ushered into a hospital board room, surrounded by doctors and nurses, and told our baby had been diagnosed with Tuberous Sclerosis Complex (TSC). We had never heard of it. After Annie's diagnosis, we were warned to keep our eye on Audrey and to arrange tests for her as well. We didn't have too wait long, for it was only three weeks later when Audrey began having seizures, and her diagnosis of TSC followed.

TSC is a genetic condition which affects one's body's ability to suppress tumour growth. The result is that benign tumours or tubers, as they are called, grow on the skin and central nervous system and other various organs. Annie and Audrey have tubers all over their brains, and, to quote their neurologist, "way too many to count." They also have the typical red facial bumps, angiofibromas, across the bridges of their noses and cheeks, as well as white ash leaf spots on their bodies. Audrey has the distinctive forehead plaque, which looks like a head bump, and the characteristic shagreen patch across her lower back. Audrey also had the heart tubers, which eventually shrunk, as most heart tubers do. So far, our girls don't have any kidney or lung tubers, though there is always the fear they will in the future. Both girls are monitored annually with EEGs and MRIs to see if the tubers are causing seizure activity and/or increasing in size or number. MRIs now require general anesthetic, while EEGs entail sleep deprivation and sedation. Both require fasting and often cause the girls to experience anxiety and meltdowns.

People with TSC vary drastically in affectedness. Although they are now aged 10, Annie and Audrey's intellectual capacity is around the level of a two or three-year-old. They have less verbal ability than a toddler. Annie has always been more severely affected than Audrey. She still struggles with daily seizure control, while Audrey's seizures have been well controlled for over five years. Kirk and I are still changing the girls' diapers, bathing and dressing them, fighting to get their teeth brushed, and guessing at "what's wrong." As they continue to get older, the girls' independence will be minimal, but we are hopeful and encouraged when we see tiny victories surface. Simple things like being able to sit through an assembly at school, going into a store without an anxious meltdown, and just playing as other children do, are all milestones we don't take for granted.

Our twins have suffered from sleep disorder, seizures (including infantile spasms), anxiety, feeding difficulty, autism and global developmental delay. As with all people diagnosed with TSC, Annie and Audrey's symptoms are not identical even to each other, in spite of their identical DNA. TSC affects one in 6,000 persons and two of them are ours.

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Lily, Audrey, Andrea & Annie

Nearly two million people worldwide are known to have TSC. There are many undiagnosed cases due to the disease's obscurity, as well as the mild symptoms which may occur in some people. While, TSC is far more common than ALS (Lou Gehrig's Disease) or Cystic Fibrosis, it remains virtually unknown by the general population.

Appointments, therapies, medications, meltdowns, and fears about the future are unrelenting. We have experienced grief at the loss of dreams and face daily challenges as we raise children with special needs. Supported by our family, our TSC family, researchers and doctors whose aim is to find a cure and more effective treatments, we are not without hope, help, or joy in the midst of our difficult circumstances. Our faith in God has given us peace, and we find strength from a seemingly illogical joy. It has been a long winter -- a whole decade of dealing with TSC, and it's still snowing. Our winter is ongoing but we live in a season of hope.

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