Patient Stories

“Tuberous sclerosis complex (TSC) has been described as a wave, and you never know when the next wave will hit. But seeing where Cammy is now and seeing her thrive gives us the confidence that when the next TSC wave hits, we’ll be able to handle it.”

Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease that causes tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. The aspects of TSC that most strongly impact quality of life are associated with the brain —like seizures and developmental delay, which occurs in over 85% of patients with TSC.1,2,3

Cammy and Meghan’s Story

When Cammy was only seven weeks old, she started showing signs of having a seizure; her arm would shake involuntarily and after a few seconds she would bounce. Meghan, Cammy’s mother, recognized that something wasn’t right and followed her instinct to take her to the hospital. After a number of tests, Cammy was diagnosed with tuberous sclerosis complex (TSC). It was in this moment that both Meghan and Cammy’s lives would change forever.

TSC is a rare multisystem genetic disease that causes tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It presents differently depending on the individual and it ranges in severity. The aspects of TSC that most strongly impact quality of life are associated with the brain—like seizures and developmental delay, which occurs in over 85% of patients with TSC.1,2,3

After Cammy’s diagnosis, Meghan and Cammy met with a TSC specialist who explained that, due to the unpredictable nature of the disease, there is no clear picture on how TSC will progress for each individual; some people have a mild form of the condition while others can be severely challenged.

With a diagnosis in hand, and no clear picture for the future, Cammy, Meghan and the rest of the family embarked on this new journey with TSC. As expected, the hardest part of TSC for Cammy’s family is the seizures. Cammy’s doctors told Meghan that managing the seizures is the most important step in order to help with her proper brain development. From that moment on, Meghan was determined to do whatever she could to ensure Cammy was receiving the care she needed.

In the year’s following Cammy’s diagnosis, the nature of TSC has resulted in unpredictable periods, where Cammy has experienced constant seizures, with some seizures not being visible at all, to periods where she wouldn’t experience any. However, thanks to recent scientific advancements, Cammy’s seizures have been able to be brought under better control, and the overall number of seizures have reduced. Meghan recalls when Cammy was able to take her first steps, something that may not have ever been possible without the work and dedication of countless researchers, doctors and patients.

Today, Cammy still experiences seizures from time to time, and although Cammy’s family doesn’t know what the future holds, Meghan believes that any day that she has fewer seizures is a big win.

When thinking about the future, Meghan noted “TSC has been described as a wave, and you never know when the next wave will hit. But seeing where Cammy is now and seeing her thrive gives us the confidence that when the next TSC wave hits, we’ll be able to handle it.”

References:

  1. Goh S, Kwiatkowski DJ, Dorer DJ, et al. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology. 2005;65:235-238.
  2. Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010;51(7):1236-1241.
  3. Theile EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: tuberous sclerosis complex, Sturge Weber Syndrome and Rasmussen encephalitis. Epilepsia. 2014;55(suppl.3):29-33.