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Jacob, 18 months
Jacob was six months when he started to get infantile spasms. The first time, it was really, really scary. - Tatiana, Jacob's mom

Tatiana [Jacob's Mom]: Let's go in your little swingy, swing swing.

Tatiana: Jacob is eight and a half months now. He's a real good baby. He loves to play with people. He gets up in the crib. He walks in his walker. He's really friendly. Normal baby.

Tatiana: I knew something wasn't right with Jacob a month after he was born, when I noticed the white patches on his skin. They referred me to the neurologist, Dr. Thiele. She definitely diagnosed him with TS, because he had two major signs, one being two tumors already in his heart, and the other one being more than three white patches on his skin.

Tatiana: Right after the diagnosis, they warned me about the infantile spasms.

Dr. Elizabeth Thiele [Neurologist]: Infantile spasms are a type of seizure we see in infancy, typically with onset between five and nine months of age. And tuberous sclerosis complex is one of the most common causes of infantile spasms for reasons that we don't understand at all. But about a third of children with tuberous sclerosis will develop infantile spasms.

Tatiana: Jacob was six months when he was when he started to get infantile spasms. The first time, it was really, really scary. It was like he couldn't control his muscles in his face sometimes. He wouldn't shake. He just kept on jerking forward and going like that and coming back, so I just held him really tight and kind of calmed him down.

Tatiana: I know. It's okay.

Dr. Thiele: It's really important to recognize and treat infantile spasms. We know that they occur commonly in TSC, and we know that the majority of children who develop them will have fairly significant cognitive impairment. If that child is destined to have spasms, it's in that child's best interest to identify them the day or as soon after they start as possible and start treatment.

Mark [Jacob's Dad]: Hi Dr. Thiele.

Dr. Thiele: Hi Mark. Hi Tatiana. And here's the big guy.

Tatiana: Jacob definitely was getting seizures before I started noticing them, so they were a little difficult to spot, but then when I was really actually holding him, that's when I noticed that it was really a seizure.

Dr. Thiele: So even just really subtle, did that look kind of like it, only really subtle. Then let us know that too, because sometimes if the kids are still having spasms they can almost just be very mild, but the parents usually know.

Dr. Thiele: It's really an amazing thing, but parents usually know, even if they're young parents, even if it's the first baby. They realize that what the child is doing is not normal.

Tatiana: He'll have clusters that will last about six or seven minutes.

Dr. Thiele: And doing that kind of repetitively during that time.

Tatiana: In one minute he'll do like two or three.

Dr. Thiele: If I'm meeting with a family of a baby who's been diagnosed with tuberous sclerosis complex, especially if it's the first child with tuberous sclerosis complex, they've ever seen, they never heard of the disease before. We typically tell them about seizures in general, what seizures can look like. Most children with spasms will have clusters of them. It won't just be one, but clusters of them, and they typically will be most common either as the child is going to sleep or waking up from a sleep state. And so that's the place when the family might notice them the most. And we also describe what they could look like. So classically it's a flexor spasm. So the child flexes at the trunk and then relaxes. It can be an extensor spasm.

Voice of Mom [Home Video]: Hi baby girl. Ooh, right there. Oh, Quinn.

Dr. Thiele: And sometimes they can be very mild, just with the head nodding, or the eyes blinking. But when babies develop the seizures, they also frequently have a big change in their personality. And the parents also notice that, that the child has been very interactive, smiling, reaching for things, and all of a sudden develops this indifference, towards the parents, towards the world, and loses interest in things they used to do.

Tatiana: Jacob.

Tatiana: What scared me about the seizure was it looked like he couldn't control himself. Like he was just out of it and like he'll be scared and when he'll come back to normal he'll cry and he'll start shaking again a little bit and he'll come back to normal and he'll look at me like "what's going on" and that really broke my heart.

Tatiana: Dr. Thiele recommended me a really good medicine, Vigabatrin.

Dr. Thiele: There are lots of different treatments for infantile spasms. I think most people in the tuberous sclerosis community would say that Vigabatrin is the treatment of choice.

Dr. Thiele: And once he started the Vigabatrin how did you see them decrease in frequency? Was it like that gone, or did it take several days for them to kind of decrease.

Mark: It took several increases for him to stop having seizures.

Tatiana: He's taking 500 milligrams in the morning, 500 milligrams at night and it seems to be working. No more infantile spasms.

Dr. Thiele: Jacob has been seizure free, since a few days after starting Vigabatrin, so he's not had any subsequent infantile spasms. Fortunately, he doesn't have any other seizure activity that we know of and he's doing beautifully. So developmentally he's a perfect baby right now and it's my hope that that continues to be true.

Tatiana: It's so beautiful out, yeah Jacob.

Tatiana: He's doing great. He's doing so much better. He doesn't have the infantile spasms any more. It's been already two months that he doesn't get one. He's been learning everything. He hasn't forgotten anything like before.

Tatiana: In you go.

Tatiana: He's a normal baby now.

Tatiana: I love you.

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