"Tuberous sclerosis hasn't affected me in any big ways. I think I'm really lucky." - Danica
Danica: My name is Danica. I'm thirteen and I'm in 8th grade.
Danica: The best thing about being 13 is, knowing that I'm now a teenager and I have the right to act like one.
Danica: Cookies!
Susan [Danica's Mom]: Hi honey! Yeah, I made you some cookies today.
Danica: Tuberous Sclerosis hasn't affected me in any big ways. I think I'm really lucky.
Danica: Could you get the milk?
Susan: Sure. How was school?
Danica: Boring.
Susan: Boring?
Dr. Elizabeth Thiele [Neurologist]: We would consider Danica to be mildly affected by tuberous sclerosis particularly with regard to the neurologic aspects of the disease. And when we talk about mildly versus severely affected, it's often the brain manifestations that we're referring to, the seizures, [intellectual disabilities], autism, significant behavioral abnormalities. And if you look at all of those, Danica is really mildly affected.
Susan: Hey Nica?
Danica: What?
Susan: Remember we have that karate class scheduled at four today, so you need to get ready pretty soon.
Danica: Okay.
Susan: Okay?
Danica: I'm going to be going for my black belt test on Saturday at ten o'clock in the morning. I'm a little nervous, actually I'm really nervous, but I feel ready.
Danica: These are the belts that I have earned through the past four years. I received this one. It's half brown, half black belt. This lets you know when you're ready to test.
Susan: Danica's just a lively girl. She's bubbly and energetic, and a lot of fun to be around.
Tighe [Danica's Brother]: Come on.
Susan: She has a little brother who's seven years old. He just started second grade. It's the three of us, here at home.
Danica: Come on. Come on.
Danica: I think I'm basically a normal person because I can do normal person things. I'm almost a black belt in karate and I think I'm really lucky.
Susan: We didn't notice anything until she was about four and a half. But she did have a growth on her lower left lid. And then when she was four and a half she developed what looked like a rash across her face, her cheeks and her nose. And then I noticed some white patches on her skin. She had some like orange peel like bumps on her lower back. So I was like, hum, there's some odd things going on here. And we had gone to the pediatrician and she sent us up to UVM med school, to the head of dermatology. And we went up there when Danica was, the day after she finished kindergarten; she was five and a half. He walked in and saw the, symptoms and said, oh, she has tuberous sclerosis.
Susan: This is a picture the day she was diagnosed. We took the ferry across Lake Champlain. And it was kind of a quiet trip. We had a lot to think about at that time.
Susan: It was kind of surreal. I didn't know what to think, but I knew we had something that was fairly serious, if, you know, if it could cause [intellectual disabilities], or seizures, or anything like that. I didn't know what to think. But, you know, I had concerns and, questions.
Dr. Thiele: I first met Danica when she was seven years old. We looked at her brain, we looked at her kidneys, we looked at her eyes, we looked at other features of her skin to determine what manifestations she had, how we would then go forth following those things to make sure they had minimal impact on her overall health.
Danica: Mom!
Susan: Honey, I can't help you do every problem for you.
Danica: I'm not asking you to do every problem, but it's 2,289 not anywhere close to this.
Susan: It's closer than ... this is too much, so it should be there.
Danica: Last year I had an MRI for my brain. I think they are looking for more white spots in my brain, and just seeing how much the white spots have grown.
Dr. Thiele: This is a picture of Danica's brain, so if you look at her MRI, this bright signal, that is where there is a cortical tuber. Cortical tubers are there when a child is born. They're areas of their brain that developed unusually. And many individuals with tuberous sclerosis have cortical tubers kind of throughout. And it's not at all unusual for folks to have tubers in every lobe in both hemispheres.
Dr. Thiele: As we go up higher in the brain and look at the ventricular system, you see this little nodule here. These are called subependymal nodules and they're named that because the lining, the wall of this ventricle, is called the ependymal lining. And this is the region of the foramen of Monro, and that's a very tiny little canal, that the spinal fluid that's made in the lateral ventricles has to flow through to get to the third ventricle. So the problem is, if someone has a subependymal nodule in that region, if it grows, then it can functionally block that tiny little canal. So these, if they do grow, the name kind of changes from subependymal nodule, to subependymal giant-cell astrocytoma. So it's not cancer, it's not a malignant tumor. It's just a scary sounding word.
Dr. Thiele: We will continue getting annual MRI scans for Danica until she's around 20 years of age. And then for reasons we really don't understand, these lose their propensity to grow.
Susan: Where's sensei?
Danica: Hello.
Susan: Hi sensei.
Susan: I tell people that it's a neurological disorder that has a wide range of manifestations. Danica's more noticeable ones are in the skin. She's 13 now, and a little more concerned about how she looks.
Karate Instructor: Okay. Come in. Turn it right into a sidekick now. Same foot. Sidekick right out to me.
Dr. Joop Grevelink [Dermatologist]: The conditions or the findings in Tuberous Sclerosis that need to be treated are the ones that are either causing medical problems or psychosocial problems.
Danica: I'd like to get these little red bumps removed so that I have regular skin.
Karate Instructor: Go! One, two ...
Dr. Grevelink: She still has persistent lesions that she would like to have addressed. Laser treatment reduces the amount of lesions significantly and often can make the skin look pretty normal.
Karate Instructor: That's good. That's good.
Danica: I'm going to start with my chin, because that's the smallest area. And I'm going to see how it works out, and if I'm happy with the results, I'll do the rest of my face. I want to know what it will feel like after the surgery.
Dr. Grevelink: The chin would look like she fell off her bike that she might ride and it's a superficial sort of scrape and it will heal in about five to seven days. She'll put ointment on there, take showers. She can do anything otherwise and there will be some mild sunburn feeling after the treatment, but that's it.
Karate Instructor: All right. Side step.
Susan: Danica knows this is going to be a lifelong thing for her. There's issues that may come up in the future.
Karate Instructor: Push it.
Danica: I've always wondered if I will ever get a seizure, and what it would be like. I've heard about seizures, and I've seen people who have had seizures. But I've always wondered if I would ever have any.
Dr. Thiele: We know that probably 5 to 10 percent, at least, of folks with TSC never have a seizure, never develop epilepsy. Even though she's never had a seizure at her age, there is still a chance. And some folks with tuberous sclerosis do develop seizures and epilepsy, later childhood and adulthood. And Danica is aware of that. And I think we're all keeping our fingers crossed that she never has seizures.
Karate Instructor: Hah! That's better.
Dr. Thiele: Everyone with TS has to be monitored for the rest of their life. And as children grow into adults, the organ system that becomes one of the biggest concern is the kidney. So by monitoring closely and doing the follow up testing, we know the kidneys are involved as soon as they are involved, so we can intervene with certain treatments when appropriate, to do what we can to protect the health of their kidneys, so that person stays mildly affected.
Karate Instructor: Hah! Ahh! All right.
Susan: The gene that her mutation is on has been associated with some lung problems in women later in life, in the thirties or so.
Dr. Thiele: We now know that a mutation in either the TSC 1 or TSC 2 gene can be associated with lung involvement in women. It's really my hope that by the time Danica goes through puberty and is at risk for this lung disease that we will have a specific drug that can treat it and prevent it from impacting the lives of these women.
Danica: Ah! Ah!
Susan: I believe that we're given challenges in our lives to make us stronger and better. Everybody has something to deal with in their life. Why does Danica have TSC? It's, it's just something that's there, and it's a challenge for our family; it's something that's going to challenge her her whole life, but I believe that she'll be better for it.
Karate Instructor: Go with it. Go with it. Push it.
Susan: Right now life is all about karate.
Danica: Karate has helped me to realize that I can do anything that I want to. And I can get as far as I want to, even with TSC.