Michael's Page

Michael was just a week old in November of 1998 when his pediatrician noticed his heart murmur. She assured us that it was probably nothing, but wanted us to have Michael examined by a pediatric cardiologist. A chest x-ray, an EKG, and an Echocardiogram later, we met with the cardiologist in his office. Michael has multiple Rhabdomyoma tumors in his heart…the tumors are benign…they will probably reduce in size and eventually disappear…there is a 50% chance Michael could have Tuberous Sclerosis…. We were in shock. This was not the news we were prepared to hear.

The cardiologist referred us to a geneticist for consultation and testing for Tuberous Sclerosis. When we met with the geneticist he checked Michael’s eyes and skin for TS. His eyes seemed fine. They found a white spot on his left leg with the Wood’s lamp. We were told there was a chance that Michael did have TS. Michael was scheduled for an eye exam with an Ophthalmologist, a renal ultrasound to check his kidneys, and an MRI scan of his brain. Michael’s eyes and kidneys were fine. On January 7, 1999, the MRI results were in: Michael has multiple lesions in his brain. Michael has Tuberous Sclerosis.

Tuberous Sclerosis is a genetic disorder that causes non-malignant tumors to form in any vital organs, such as the brain, eyes, heart, kidneys and skin. Not everyone with TS is a result of genetics – 60% are spontaneous mutations. Michael is one of them as my husband and I do not show any manifestations of TS. Not everyone with TS have the same symptoms. Some cases are mild – some are severe. There is no cure.

Michael was only 2 months old when he was diagnosed. According to the geneticist, it was inevitable that Michael would have seizures and referred us to a pediatric neurologist. I had visions of my son flopping on the floor like a fish during a seizure. Although we were fearful of the unknown (at the time we had never heard of Tuberous Sclerosis) we were thankful for the early diagnosis. Michael’s seizures became more noticeable when he was 3 months old and we were somewhat prepared for them. They were much milder than I had expected (I learned there are many different types of seizures). His neurologist started him on Phenobarbital.

Other than the seizures, Michael’s development was typical for a child his age. He smiled, laughed, babbled, and rolled on the floor.

When Michael was 7 months old he reached his maximum level on Phenobarbital. His development did not continue to progress. In fact, he lost some of his skills. He stopped vocalizing. He wouldn’t smile, laugh or cry. He became somewhat lethargic. We reduced his dose of Phenobarbital and added Klonopin as he continued to have seizures.

In September, when Michael was 10 months old, he was hospitalized for a couple of days. His body temperature was low (94.8), his breathing was shallow and he was unconscious. To this day we are not sure what caused this to happen, but we did notice a small miracle when he came home from the hospital. Not only did his seizures disappear, but he also broke out of his spell! He was smiling! He was laughing! He was crying! We had our son back! There was one drawback: a feeding issue. Michael stopped taking a bottle and was not eating enough to keep his weight at the 25 percentile on the Denver scale. This is still an issue today, though he is doing better. His seizures returned a few weeks after he was released from the hospital.

Michael began Early Intervention when he was 11 months old. He received Occupational Therapy to help with his gross motor (crawling and walking), Speech Therapy and attended class twice a week. His Occupational Therapist had Michael practicing sitting up on his own within the first month, which was very impressive. He eventually learned how to sit up on his own, get to a sitting up position from the floor and crawling on his belly (what I affectionately like to call "the combat crawl").

As Michael’s seizures continued, his neurologist added Carbatrol to be taken along with his Phenobarbital and Klonopin. At first, it seemed to control his seizures, but they eventually resurfaced. Once again, Michael reached his limit on Carbatrol. The effects were different than the Phenobarbital. Michael balance was off, his body would shake and he would throw up. After being hospitalized overnight to help him keep his medicine down we reduced his dose of Carbatrol.

Since June 2000, Michael has been doing wonderful! His neurologist took him off of Carbatrol and put him on Topamax, which helped with his seizures. Since then he has been weaned off of Klonopin and Phenobarbital. During the Phenobarbital wean he started having seizures again. He is now currently on Topamax and Neurontin.

Michael started crawling on his hands and knees in June 2000, took his first steps the day after Christmas, and started walking in January. He has been vocalizing more with mama and baba and is now starting to say dada. He continues to go to therapy and will start preschool once he turns 3.

Despite his medical woes, Michael is a very loving child. He has a smile that can light up a room. He’ll put his arms around your neck and squeeze for what seems like an eternity, and we love it!

We hope Michael will be able to gain seizure control once again and remain that way. There is always a chance that any new medication could cause physical and emotional side effects. His kidneys could develop tumors later on in life, which can also cause complications. There are times when we wonder what the future holds for Michael, but we try to concentrate on his accomplishments.

Michael's Story