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Penelope Roberts

Penelope Roberts
Genetic Counselor

Penelope Roberts: The people who come for genetic counseling are families or individuals who are affected with tuberous sclerosis.

Mark: This is Jacob

Roberts: Hi Jacob.

Mark: Say hello.

Roberts: Genetic Counseling explores all aspects of the disease. And gives people time to absorb it. It's a very shocking and very difficult diagnosis to come to terms with.

Mark: And eventually he was diagnosed and we were told at about four and a half, five months he was a 70 percent chance of having seizures and no longer than two weeks later he had is first infantile spasm.

Roberts: That must have been scary.

Mark: Very.

Roberts: The genetic counselor can offer comfort and support and explain genetics in terms that people can understand.

Roberts: Genes are made up of four chemicals and all genes have a particular sequence of these chemicals and they have to be in a particular sequence in order for the genes to work properly. And what these genes are making is they're making proteins.

Roberts: We talk a bit about their medical history. We take a family history, which usually entails a three-generation pedigree.

Roberts: Okay, so your mom has another daughter.

Tatiana: Yeah. And another son.

Roberts: And do they share the same mother and father?

Tatiana: Yeah.

Roberts: It's important to figure out if tuberous sclerosis is coming down through the family, and people just don't know it. They all thought, gosh we all have these white spots and we just thought that made us a family.

Roberts: It doesn't look like the tuberous sclerosis is coming down through the family. It looks like in Jacob's case, this is a mutation that's only occurred, it's a new mutation that's occurred in Jacob.

Mark: So he's the first of it's kind in our family.

Roberts: That's the way it looks right now.

Mark: He's the lucky one, unfortunately.

Roberts: Unfortunately.

Roberts: We'll talk about the genetics, what causes tuberous sclerosis. Talk about how a mutation can occur.

Roberts: Genes that cause tuberous sclerosis are located on chromosome nine and chromosome sixteen. So we each have two copies of the genes that if there's a change in them, a mutation in them, they cause tuberous sclerosis.

Roberts: It offers people just the opportunity to understand what's going on, and how the disease can affect their family, what their future options are, if they want to go on and have more children. It just, it explores all aspects.

Roberts: So what some people consider is they consider having the first person, such as Jacob having a genetic test to see if they can find the mutation in either the TSC1 gene or the TSC2 gene. And if they can find it, then what they can do is offer you prenatal testing if you were to have another child.

Tatiana: Okay.

Mark: Can I ask you another question? Because he has TS, is it something that either one of us did so he can be diagnosed with it or for it to be passed on?

Roberts: Is it something you did that caused the mutation to occur?

Mark: Yeah, like maybe alcohol, stress or smoking?

Roberts: No there isn't anything you did or didn't do.

Roberts: A lot of people, a lot of parents especially, come in with the concern, was this something I did? I had a glass of wine during my first trimester. Or, you know, I was around somebody who was smoking. I stood in front of the microwave. You hear a variety of questions. Was it something I did? Did I cause my child to have epilepsy and to have tuberous sclerosis? And to reassure them that it was nothing they did. That this was a random chance, a mutation that happened, and would have happened no matter what they did, if they hadn't had the glass of wine, if they had it. It was a random chance.

Mark: So there's no reason for us to blame ourselves.

Roberts: No, there's not at all. There's nothing you did.

Roberts: At the end of a genetic counseling session, we'll offer to them resources that they can use to learn more about the disease. We'll offer them families who are willing to speak with them, who also have the same diagnosis. We'll offer them reading material that they can take home.

Roberts: About a week later, they'll get a letter that says, everything that was talked about in writing. So that they can have that for their medical records they should be keeping and also just to go back and look and be like you know I thought she was talking about was what the risks if we were to have another child because during a new diagnosis you're not really thinking about, gosh you know, what happens if I have another child and so they may be talking about it, but you're sort of tuning it out and so to have that to go back and read later, it's really a nice resource for them.