"The supposition is that it came from my paternal grandmother. It's possible that it's been in my family for, at least now, four generations." - Steve
Steve: So who's got a panda on their card? Do you have a panda Jonas?
Jonas [Steve's Son]: I have a panda on my card.
Steve: All right. Here you go.
Anders [Steve's Son]: I do too.
Steve: My name is Steve. I'm 38. I work for an IT consulting company in Boston.
Anders: Let's do four more.
Steve: Four more. Okay.
Steve: My wife Nancy and I have two boys, Anders and Jonas.
Steve: Yeah I can take over.
Steve: I first became aware of tuberous sclerosis, when my sister was diagnosed. My sister Amy was 19. She was having headaches and blurred vision. They took her in and gave her a CAT scan. She had a tumor that was blocking the flow of spinal fluid. Her neurosurgeon was familiar with TSC and had speculated that the cause of the formations in her brain were a result of TSC. And the rest of us in my family were clinically diagnosed to have TSC as well.
Dr. Elizabeth Thiele [Neurologist]: When we make the diagnosis of tuberous sclerosis in an individual, we then wonder if they have it as a result of a spontaneous mutation. In that situation, no one else in the family, including the parents would be affected. Other times, it's passed on through a family.
Steve: It was presented to us that it was genetic and passed down to me and my sister from my father.
Dr. Thiele: If an individual has tuberous sclerosis, and they go on to have children, each child they have will have a 50 percent chance of inheriting the mutation, and also inheriting this disorder of tuberous sclerosis complex. So, when we do make the diagnosis in an individual, it's very important to look not only at that individual, but their family members. Their parents, their siblings, their children, to see if, perhaps, other people in the family may also have the disorder.
Steve: To me, you know, it's clear that it's a hereditary disease that affects people differently. I guess you would say we have a relatively mild form of TSC.
Dr. Thiele: The important story in the family is that Amy presenting with the tumor and being diagnosed with TS led to over ten other family members also being diagnosed with tuberous sclerosis complex.
Steve: My father's brothers were also tested and one had TSC and the other did not. The supposition is that it came from my paternal grandmother. It's possible that it's been in my family for at least now four generations.
Nancy [Steve's Wife]: When Anders was born tuberous sclerosis was something that I knew I should be aware of. There was no test done until we went to see Dr. Thiele. She took one look at Anders and she kind of went over him with a Wood's lamp from top to bottom and said, "it's normal to have maybe two or three of these patches of white skin and your child has about eight or nine of them and I'm extremely suspicious. The next step at that point was to get an MRI and look for sure. The MRI revealed several tubers in his brain. When he was 18 months he started to have kind of like these little bit of staring spells. That really woke me up and I decide that, I mean I had to call Dr. Thiele immediately. Within 24 hours we were in and we were seen and he had an EEG and they identified that he was definitely having seizures and those seizures were legitimate and significant enough to warrant medication.
Anders: Right on the bottom because there's so much weight on it.
Nancy: Ahhh.
Steve: Anders was put on Lamictal. We started out with a, you have to sort of ramp him up slowly. I think from start to finish, he was on for just about 15 months, maybe 18 months all together.
Skating Instructor: There you go. There. Good job.
Steve: Then at 15 months, we started to ramp him down, because we hadn't seen activity for just about a year I think at the time. To date, he hasn't had any more, and haven't had any concerns.
Nancy: "Look," Peter said excitedly, "blue apples." Are those blue apples Jonas? What are they?
Jonas: Blueberries.
Steve: About two years after Anders was born, Jonas was born. He was clinically diagnosed with TSC and at the time they were able to do a genetic test as well so it was backed up genetically that he had TSC also. Didn't notice any seizure activity in Jonas. We still haven't noticed any seizure activity in Jonas. He's three now and he's progressing very nicely.
Steve: My father and my sister are doing great. My sister Amy still goes in every year to visit her neurologist. And has a clean bill of health. My father is doing fine as well. He doesn't get evaluated as frequently, because he's never had any real issues.
Dr. Thiele: Their family is somewhat unusual, in that all of the individuals in that family, that we have been able to diagnose, are all mildly affected, which is pretty unusual. Usually there is much more variability within a family, of some severely affected, some mildly affected. As the child grows and develops they still have a lifetime ahead of them of possible other manifestations. So they will need to be followed throughout their lives, with regard to looking for kidney involvement, more significant skin involvement, and even other neurologic involvement. You know, they're still very young, and as they enter school, we will continue to follow them very closely in order to insure that they are doing as well in school as they can do.
Steve: Uh oh, careful. Don't want to get the plastic in there do you? It'll taste yucky.
Nancy: For us, it really, it comes down to a lot of monitoring. Every year the kids go in and have an MRI, and EEG and an ultrasound.
Anders: It looks like it's scared.
Nancy: Ah.
Steve: You know we're doing the preventative screenings. We're making sure that if anything should happen we can catch it early enough.
Steve: Okay. It's just about ready, I think.
Steve: There's always the possibility that something will happen down the line, to myself, or to them, or my father or someone else in my family.
Nancy and Steve: If you want to bless your food, hold hands now.
Steve: When and if it occurs, we'll just have to deal with it then.
Nancy and Steve: Blessings on our food and each other. Bon appétit.