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Family Story: Jacob, 9 months

Jacob was diagnosed with tuberous sclerosis complex (TSC) when he was five months old. Shortly after diagnosis he began having a serious type of seizure known as infantile spasms. This condition requires prompt medical intervention and careful monitoring as soon as it is identified. Jacob's seizures have responded well to the medication vigabatrin. Watch Jacob's video [duration 5:05] or read the transcript.

Jacob quote by Tatiana

About a month after Jacob was born his parents noticed several light patches of skin on his body. Jacob's parents were concerned about the white spots and took him to see the family pediatrician who examined Jacob under a Wood's lamp. However, the pediatrician was unable to determine what might be causing Jacob's skin abnormalities. The family then consulted a dermatologist, who strongly suspected TSC. He referred Jacob and his family to the Herscot Center for Children and Adults with TSC at Massachusetts General Hospital.

A cardiac ultrasound at the Herscot Center revealed two rhabdomyomas in Jacob's heart. Together with the skin findings, which were determined to be hypomelanotic macules, the rhabdomyomas were sufficient evidence to diagnose Jacob with definite TSC. These tests were followed by a complete clinical evaluation, including a brain MRI. The MRI showed tubers in his brain, supporting the diagnosis. (For more information on how TSC is diagnosed, see Diagnosis.)

Infantile Spasms

Jacob's parentsclick to enlarge photograph

Jacob's parents in consultation with neurologist Elizabeth Thiele

After his diagnosis Jacob's parents were counseled about infantile spasms, a serious type of seizure that is commonly associated with TSC. About one-third of infants with TSC develop infantile spasms in their first year, usually at between five and nine months. Jacob's parents were told what these spasms can look like and what to do if Jacob started having them. (For more information on infantile spasms and seizures, see Brain: Seizures.)

When Jacob was six months old his mother observed some of the characteristic signs of infantile spasms. She saw his torso become rigid and then jerk forward in his walker. At first she thought these movements were nothing out of the ordinary. Then, while holding Jacob the next day, she noticed his facial expression change. Tears came to Jacob's eyes, and she felt his body jerk forward. This movement recurred approximately 10 times per minute for several minutes. Because of the information she had received from the doctor, she knew that these unusual movements could be infantile spasms and immediately took Jacob to the hospital.

Vigabatrin

Jacob with bottleclick to enlarge photograph

Jacob's parents add his medication to his formula.

Jacob had an electroencephalogram (EEG) to characterize the electrical activity in his brain. This test confirmed that Jacob was experiencing seizures. Physicians responded by putting him on vigabatrin, an antiepileptic drug that has been used successfully to treat infantile spasms. Jacob's parents receive the medication in powder form and add it to his formula. They give him half of his daily dosage in the morning and the other half in the evening. Over the course of the first two weeks that Jacob took vigabatrin, doctors slowly increased his dosage to the prescribed amount. Within a month Jacob's seizures had decreased in frequency to the point where his parents observed no infantile spasms at all.

In the second month Jacob's mom noticed what she thought was minor seizure activity. After medical testing, doctors increased Jacob's dosage slightly. Soon after, he was again seizure free and has remained so as of early 2006. Still, Jacob's parents and doctors remain vigilant. His parents continue to watch him very carefully for any sign of infantile spasms or other seizure activity.

Doctors know that children who have infantile spasms are at greater risk for developmental and behavioral problems. Because Jacob's seizures were caught early and are well controlled, his parents and doctors are optimistic about his future. Right now Jacob is developmentally normal. His mom says, "He is a real good baby. He loves to play with people. He gets up in the crib. He walks in his walker. He's a really friendly, normal baby."