Michael is severely affected by tuberous sclerosis complex. For most of his life he has had seizures that have been very difficult to control. He is nonverbal, is still in diapers, and has many autistic features, yet he has a remarkable relationship with his sister and parents.
The first indication that Michael might have TSC was when, at the age of five months, he developed a type of seizure called infantile spasms, which is characteristic of the disorder. Doctors confirmed the diagnosis when a Wood's lamp examination revealed multiple hypomelanotic macules (ash leaf spots) on his back. Michael spent the next week in the hospital, where he received brain magnetic resonance imaging (MRI), a spinal tap, an electroencephalogram (EEG) and an electrocardiogram (EKG). The tests revealed multiple cortical tubers in Michael's brain and a cardiac rhabdomyoma, which appeared to be regressing. At that time doctors put Michael on a steroid called ACTH to treat his seizures. In very rare cases, ACTH can cause cardiac rhabdomyomas to grow, and Michael was one of those rare cases. When Michael was switched to a different medication, the rhabdomyoma regressed and has not been an issue since.
Michael's seizures, however, were treatment resistant. The new medication worked for a few months, but his seizures came back. Michael's family tried many medications, and each time the seizures returned as bad as—and sometimes worse than—before. In addition to the medications, Michael received a vagus nerve stimulator (VNS) when he was two years old. The VNS is an implantable electronic device that stimulates the vagus nerve and helps to control seizures. When he was six years old, his family also decided to try the ketogenic diet, a special high-fat, low-protein, low-carbohydrate diet that can help reduce seizure activity.
Michael has now been seizure-free since he was seven years old. His doctors don't know for certain why Michael's seizures have subsided. Perhaps the medication Michael is currently on has worked; or maybe the vagus nerve stimulator, the ketogenic diet, or a combination of treatments has made the difference. It is also possible that Michael's brain has grown and developed to a point where he has simply outgrown his seizures.
Whatever the reason, being seizure-free has opened up possibilities for Michael's future development. Within the past year and a half, Michael has learned to walk and his family has noticed his personality emerging more and more each day. Michael's mom says, "Michael's a mischievous eight-year-old. In his own little way, he likes to tease his sister. He loves to laugh, he likes to be tickled, he loves to be hugged. If I'm sitting around reading the newspaper, he'll climb into my lap and have a cuddle session."
Being seizure free has also helped Michael make progress at school and with his therapies. Each year Michael's family, teachers, and school therapists develop an IEP, or Individualized Educational Plan. Every week he receives several hours of physical therapy, occupational therapy, and speech therapy. Michael's school uses a collaborative model, which means that teachers repeat the skills he is working on in his therapies throughout the school day.
Michael's IEP challenges him with goals such as decreasing the occurrence of self-stimulating behaviors like putting his hands in his mouth, and increasing the occurrence of more productive behaviors. He also has movement goals. For example, he often wears a weighted vest to help bring his heels down so he can develop a more natural gait.
One of the most important goals for Michael is to improve his communication skills. His teachers use a "total communication" approach that includes visual cueing, tactile cues, spoken language, and sign language. They also use large button devices called switches. Michael can use a switch to start or stop an activity, or his teachers or family can record messages that can be activated by the switches. Michael can push the switch if he chooses to share the message. Eventually his teachers hope to set up two switches a "yes" switch and a "no" switch - so that Michael can participate in decision making. Michael's family might also one day implement the "yes" and "no" switches at home.
Ongoing Medical Care
Michael's health is regularly monitored by an extensive team of caregivers, including a nutritionist who helps his family manage the ketogenic diet. Ongoing care includes kidney ultrasounds and neurodevelopmental evaluations in addition to normal checkups with his pediatrician. Michael also gets an EEG to look for seizure activity and an MRI to monitor the growths in his brain.
When Michael was six years old, surgeons removed a subependymal giant cell astrocytoma (SEGA) from his brain, leaving a scar across the top of his head. Since that time, the tumor has grown back. Although the current SEGA is not blocking the flow of spinal fluid, as the other had, doctors continue to monitor it closely. They suspect that Michael may need additional surgery in the near future to remove the growing tumor.
Caring for a child like Michael is a lot of work and can put a lot of strain on a family. Knowing this, Michael's parents are careful to share the responsibility. For example, Jane works closely with Michael's school, and Russ makes all of Michael's meals. They are also careful to maintain balance in their lives. They try to make sure that Michael's older sister, Dana, gets the attention she needs. Jane and Dana spend an hour of mom and daughter time each morning before Michael wakes. They also go on family ski trips to a facility where Michael is welcome in the children's center. The family knows that Michael is well taken care of and Dana gets her parents all to herself.
Russ and Jane also make time for each other. Ever since the early days of their relationship, Saturday night has been "date night" for Russ and Jane, and that's a routine they've managed to maintain even with two kids and a dog! Michael's dad says, "I think what we do is we try to make sure that we have some alone time, some time for ourselves. And just get a little break every now and then."