Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Affecting about 5,000 Canadians, the disease is largely unknown but more common than cystic fibrosis and Lou Gehrig’s disease (ALS).
Andrea Foster from Brampton, Ontario has experienced the challenges that TSC can present firsthand. When her five-month-old daughter Annie was having seizures, she brought her to The Hospital for Sick Children. Having never heard of TSC or its causes, Andrea had to face a painful reality: not only was Annie diagnosed with severe TSC, but her identical twin sister Audrey had the exact same genetic disorder.
As the girls have been growing up, the disease has also progressed, manifesting through other symptoms. At the age of five, both twins were diagnosed with autism and, now nearly 10 years old, they both exhibit the disease’s telltale physical signs, such as ash leaf spots and angiofibromas (red marks) across the bridge of their noses. The twins are so alike that an MRI has revealed they have a nearly identical number of small inoperable tumours covering their brains.
Despite the heartbreaking challenges of raising her twin daughters with TSC (in addition to two other children, now aged 11 and 13) Andrea says that she’s been fortunate to have the support of her family and an extensive, dedicated healthcare team to help her with the unpredictable and lifelong commitment of TSC.
What you should know:
– TSC causes non-cancerous tumours to form in many different vital organs of the body, including the brain, kidney, heart, eyes, lungs and skin.
– A wide variety of symptoms occur in people with TSC, including: seizures, developmental delays, behavioural problems, autism, skin abnormalities, and kidney disease.
– Many people with TSC show evidence of the disease in the first year of life; however, it can also surface between the ages of 15 and 30.
– Kidney tumours affect up to 80% of patients with TSC and growing tumours may lead to unpredictable life-threatening complications.
– Treatment for people with TSC includes the management of seizures, special education for those who need it, and surgery, including plastic surgery. It is important to speak to your healthcare team about a treatment plan that works best for you or your loved one.
The month of May is now TSC Awareness month. To make a donation or for more info please visit www.tscanada.ca.