"Life with tuberous sclerosis isn't easy. I had struggles in certain things, but here I am today and it's wonderful." - Laurie
Anna May [Laurie's Mom]: Post em on the windows like what we have on here on religion.
Laurie: Okay.
Anna May: All right you can use tape and just tape the four corners.
Laurie: My name is Laurie. And I'm thirty-eight. I have tuberous sclerosis. I work with my mom. I've been at Mt. Holyoke for almost 18 years.
Anna May: TSC has affected Laurie's entire life. When she was an infant, she had some serious gross motor nerve problems. It affected her language she had seizures.
Denis [Laurie's Dad]: Everybody is affected differently, depending on where the tumors decide they're going to locate. In Laurie's case, it happens to be in that lower left lobe of the brain. So that's why we've had to deal with not only seizures. But we've had to deal with a comprehensive language problem, that prevented Laurie from understanding language.
Dr. Margaret Pulsifer [Neuropsychologist]: About half of children and adults with tuberous sclerosis complex, it's estimated will have some type of cognitive impairment. They often times have difficulty with language and with learning, particularly with reading comprehension and written language.
Anna May: We're going to need 14 copies
Laurie: My mom said I could do anything you know that I wanted to do. It would take me longer, but I would be able to do it. I'm doing stuff in the secretarial field and I run errands.
Anna May: Can you just drop these off at the library on your way?
Laurie: Yes.
Laurie: I really like running the errands.
Denis: Laurie has been helped by her job, by the simple fact that she has to come into contact with so many people.
Laurie: It's going good.
Lee Bowie [Laurie's Colleague]: Are you still running the office?
Denis: And they all love her. So the interaction with other people helped Laurie grow tremendously, from the very basic eye contact with others, to other aspects of social life.
Lee Bowie: Well, it's been great seeing you Laurie.
Dr. Pulsifer: The goal for individuals with tuberous sclerosis complex is to fulfill their potential, to be the best that they can be, with the resources and the abilities that they've been given.
Laurie: This is my apartment. This is my living room. This is the TV that I watch the Red Sox on.
Laurie: I moved here about a year ago. Having my own apartment is wonderful.
Laurie: Out here is the deck.
Dr. Pulsifer: Many individuals with cognitive impairment will be able to live to some degree in on their own, given the right support and intervention. Some might need to live in a supervised setting, whereas others will be able to live more independently and have maybe weekly contact with somebody in the adult community to help them function.
Anna May: Laurie, what we're going to do is try to match up the things that would be good for you to wear.
Laurie: Okay. This goes with that.
Laurie: My mom comes over and she helps me with things.
Anna May: There were a lot of things Laurie had to learn, a lot of living skills. We've worked very hard with her over the years, preparing her for the time that she would eventually be on her own.
Anna May: Okay and you also said the tan pants, so you can mark that down.
Anna May: We still worry about her, you know, her health is what it is, but she is just so happy that it's wonderful for us to see.
Laurie: Come on Clement.
Anna May: As an adult, tuberous sclerosis has greatly affected her life, because she has had some very serious health issues to deal with.
Denis: It has been our experience that the way tuberous sclerosis affects an individual going from childhood to adulthood is simply in the progression of the disease. As they go into adulthood, more organs are affected more severely, such as the lungs, and the kidneys. I think her kidneys have been affected more severely than any other organ in her body.
Dr. David Steele [Nephrologist]: Tuberous sclerosis affects the kidney largely by certain forms of tumors called angiomyolipomas. About 80% of patients who have tuberous sclerosis will develop angiomyolipomas during the course of their illness. These abnormalities of the kidney generally have an onset at a fairly young age in tuberous sclerosis patients and are slowly progressive over time.
Laurie: I have 2/3 of my right kidney...and I had my left kidney taken out.
Dr. Steele: In order to preserve her remaining renal function for as long as possible, we have adopted certain strategies.
Laurie: The doctors put me on a low protein diet. My mom helps me with my menus and we do it on Sundays after we've gone to church.
Laurie: 14 grams.
Laurie: My mom has made the breakfast, lunch and dinner list for me, to make it easier so that I can just kind of look at what I want to eat and how much protein it is.
Anna May: But I think you're low enough, you'll probably be able to do it. Put it down and if it's too high we can change it.
Anna May: At this point, the kidney, despite how terrible it looks in pictures, is still doing enough of a job that she's able to function normally.
Dr. Steele: Our hope is that we may be able to prevent Lori from progressing to dialysis or transplantation for a number of years.
Dr. Jayaraj Rajagopal [Pulmonologist]: It's good to see you Laurie. How are you?
Laurie: I'm fine. How are you?
Dr. Rajagopal: Let's go into the exam room. Get yourself comfortable.
Denis: TSC has affected Laurie's lungs for about four or five years now.
Dr. Rajagopal: If we could just start and I could listen to your lungs. That would be terrific. Is that okay?
Laurie: Doctor Jay is, is my lung doctor.
Dr. Rajagopal: And I'll have you take some deep breaths.
Laurie: He makes sure that I'm doing OK.
Dr. Rajagopal: In tuberous sclerosis, the most serious lung disease that one has to contend with is called LAM. This is lymphangioleiomyomatosis.
Dr. Rajagopal: The thing that we're all so concerned about are these kind of holes that you see here. Those are called cysts.
Laurie: The black things?
Dr. Rajagopal: Yeah, the black things.
Anna May: They are monitoring the lungs very closely.
Dr. Rajagopal: So that's all very good news.
Dr. Rajagopal: LAM is an unusual disease where certain cells in the lung, particularly smooth muscle like cells, will start proliferating inappropriately. And those excess of cells, depending on where they are, will cause different kinds of problems. It can cause problems with wheezing, or problems with the blood vessels or the lymphatic vessels of the lung. And indeed, one can go on to develop lung cysts in the lung, that then cause lung collapse.
Dr. Rajagopal: The CAT scan allows us to actually take a look at the lung and measure the cysts and the nodules.
Dr. Rajagopal: On a chest CT scan a number of years ago, Laurie had findings that were consistent with LAM.
Dr. Rajagopal: So these lung function tests essentially look like they haven't changed.
Dr. Rajagopal: Fortunately for her, and for her family, she hasn't had very many symptoms from her lung disease. But I think it's something that weighs on her, and we're concerned about. For that reason, we're following her very carefully to see whether her LAM is stable, or getting worse over time.
Dr. Rajagopal: The best hopeful option is Rapamycin.
Dr. Rajagopal: There is no proven specific therapy yet for LAM. But there is an interesting drug on the horizon, Rapamycin, which specifically affects the pathway of the genes that are affected in tuberous sclerosis.
Dr. Rajagopal: If she enrolls in the trial, it may be that that trial has her get a CT scan before then.
Denis: Well hopefully they're going to start the Rapamycin fairly soon I would hope.
Anna May: The drug trial involving Rapamycin is a new process to us at this point in time. We have received some literature on it. Laurie is being considered as a candidate for it. And the next step is for us to meet with her neurologist and possibly begin on the medication.
Denis: What is your hope Rapamycin's going to do in terms of Laurie's cysts and ...
Dr. Rajagopal: It's possible the nodules will shrink, but we don't, we don't really know.
Laurie: Hopefully, Rapamycin will shrink the tumors in my body, or help reduce the tumors in my body.
Denis: We're willing to give it a shot and Laurie is willing to give it a shot. It's the most hopeful thing to come down the pike since you know, since we've known that Laurie's had tuberous sclerosis, which is 30 years now.
Denis: And we're headed home.
Anna May: We're hoping that Rapamycin will certainly give Laurie better health for the future. But other than that I don't think we really, we really think differently about Laurie's future than we do our own.
Denis: You gotta get going gal. We're looking at a skunk here.
Denis: We're a very positive family. We think positively all the time. For example, in Laurie's future, we can see dialysis. We've even spoken to Laurie about that because of her kidney situation. We don't know what's going to happen with her lung situation. And Laurie understands that as well. But we don't dwell on that. We simply plan a future like we would normally plan a future. And we expect Laurie to live to a ripe old age. We are going to replace ourselves as legal guardian at some point, because Laurie is always going to need that help with organizing her medical appointments as well as her financial situation. We're putting all of that in place, because we're not going to live forever, and we expect, fully expect Laurie to outlive us.
Laurie: Life with tuberous sclerosis isn't easy. You know, I had struggles in certain things. But, here I am today and it's wonderful. You know if kids feel that they can't do something, they can. Just keep trying.