Danica is mildly affected by tuberous sclerosis complex (TSC). She is cognitively normal and has never had seizures. Her most recognizable symptoms at 13 are on her skin, most noticeably the angiofibromas on her face. She is interested in talking with a dermatologist and is considering laser surgery to treat the lesions.
Most individuals with TSC are diagnosed in infancy or early childhood, but some people, especially those who are mildly affected, are diagnosed only after a particular manifestation, such as a skin lesion, becomes more pronounced.
When Danica was three and a half years old, a dermatologist removed a growth from the lower lid of her left eye. After some time the lesion began to grow back. When she was four and a half, what appeared initially to be a rash developed across her cheeks and nose. Her mother also noticed areas of lighter skin on her torso and a patch of bumpy skin on her lower back. Danica's pediatrician couldn't identify the source of these symptoms and referred her to a dermatologist, who was also unable to make a diagnosis.
When Danica was five years old, she visited another dermatologist who was familiar with TSC. This doctor recognized that Danica's skin symptoms were actually facial angiofibromas, hypomelanotic macules, and a shagreen patch—three major diagnostic features of TSC. (Learn more about how TSC affects different organ systems.) Danica was diagnosed with TSC based on her skin findings alone.
Danica's mother found a TSC clinic where Danica received a full clinical evaluation including an echocardiogram, a brain MRI, and a kidney ultrasound. These tests were performed to determine which organ systems were involved and which were not. Danica's tests revealed small tumors in her brain (subependymal nodules, or SENs) and in her kidneys (angiomyolipomas, or AMLs). To this date, Danica's tumors have been asymptomatic, meaning that they have caused no medical problems. The results of these tests provided an important baseline and helped determine how Danica's health would need to be followed in the future in order to minimize TSC's impact.
Danica also received a neurodevelopmental evaluation, which similarly provided a baseline understanding of her cognitive development. These tests showed that she is developmentally normal, which is clear from her progress in school. Even so, she will continue to receive periodic evaluations so that if in the future she does need help, her teachers and family will be there to provide support.
Ongoing Medical Care
People like Danica who are mildly affected by TSC require monitoring throughout their lives, despite their lack of symptoms. Her doctors will continue to regularly examine her brain and kidneys and will start to evaluate her for possible lung problems in her late teens. Even so, she will continue to receive periodic evaluations so that if in the future she does need help, her teachers and family will be aware of it and be there to provide support.
Doctors also recommend that when young men and women who are affected by TSC reach puberty, they meet with a genetic counselor to understand the risk of passing along the TSC mutation to their children. Danica's doctors have talked with her and her mother about scheduling a genetic counseling session in the near future.
A supportive home life has helped Danica develop a healthy self-image. Karate has been instrumental as well. Danica was quite shy as a young child, but developed an interest in karate in the third grade. Her mom found a karate studio nearby and enrolled her in lessons. Karate has helped Danica to build her confidence and self-esteem. She says, "I always feel comfortable there. If I'm having a hard day, I can always go there. And I'm good at it, so that makes it more fun, because I know that I am succeeding and I'm doing what I want to do." She loves to compete and has advanced through the ranks fairly quickly. In September 2005, she passed her junior black belt test.
Danica and her family live in an area where it has not been easy for them to connect with other TSC families. When Danica was 12 they were able to attend one of the TS Alliance conferences and were pleased to finally meet people who are dealing with similar issues in their lives. They attended information sessions, classes, and social events, where they learned more about TSC and how it affects each person differently.
Danica's mom says, "The TS Alliance event was wonderful. It was a great opportunity to meet other parents who have children with TS, and some adults with TS also. It's a great group of people. It was really very uplifting to be there and to see all the research that's going on and people who are working so hard to do something about this."