Tuberous Sclerosis: New Treatment Gives Ryan New Hope
"It's almost like someone turned on a light switch."
At age 6 months, Ryan McVicker was diagnosed with tuberous sclerosis, a genetic condition that causes benign tumors to grow in various parts of the body. Today, with the help of a new medication, rapamycin, Ryan's tumors are decreasing in size. He now spends time playing with his younger brother and learning new tasks that before seemed impossible, such as tying his own shoes.
A picture of happiness, Joyce and Michael McVicker live in Columbus, OH, with their two sons, Ryan, age 9, and Adam, age 5. Ryan loves hanging out with his little brother, eating ice cream and working on puzzles. Unfortunately, the McVicker family's journey to this joyful time has not been an easy one.
Ryan McVicker seemed to be a happy, healthy baby when he was born in 1997. But when he was 6 months old, something just didn't seem right.
Two Frightening Diagnoses
Joyce and Michael noticed Ryan having strange "cluster" episodes. Not sure what they were seeing, they decided to make a video to show to Ryan's pediatrician. Joyce suspected that maybe Ryan had developed diabetes, since this condition runs in the family.
After viewing the videotape, Ryan's pediatrician sent the McVickers to a local hospital for tests, including an electroencephalogram (EEG). An EEG is a recording of the electrical activity of the brain.
The McVickers returned home with two devastating diagnoses for Ryan: Infantile Spasms and Tuberous Sclerosis. Infantile spasms is a form of epilepsy, which can develop in infants with tuberous sclerosis but also with other forms of epilepsy. These types of seizures often look like startle episodes and occur in clusters. Tuberous Sclerosis (TS) is a genetic condition where a child develops benign growths in various parts of the body, such as the brain, heart and lungs. Infantile spasms is often a symptom of TS.
Joyce and Michael were told that Ryan would be severely impaired by these two disorders. Not willing to sit back and accept this frightening future for his son, Michael began to do research on the internet. There he found the Tuberous Sclerosis Alliance web site, which lead Joyce and Michael to Cincinnati Children's.
On the Road to Cincinnati
The McVickers first contact with the Tuberous Sclerosis Clinic at Cincinnati Children's was Cindy Tudor, one of the clinic's nurse practitioners. "Cindy has helped us grow in so many ways," Joyce said. "This is more than just a clinic. The people here really care."
After speaking with Cindy Tudor about the services the clinic provided, the McVickers decided to bring Ryan to Cincinnati. "We wanted to go to a place where [treating TS was] all they did," said Joyce. "As soon as we met Dr. Franz we weren't going anywhere else."
New Treatment Offers New Hope
David Neal Franz, MD, pediatric neurologist at Cincinnati Children's and director of the Tuberous Sclerosis Clinic, has been researching a new, non-surgical treatment for tuberous sclerosis: rapamycin. Traditionally, rapamycin has been approved and used to prevent rejection in transplant patients. (Read more about this research study on page 5 of the Spring 2006 edition of Perspective, a Tuberous Sclerosis Alliance publication.)
Recently, however, research has shown that rapamycin can be effective in treating symptoms associated with tuberous sclerosis.
The tuberous sclerosis gene causes the formation of the growths / tumors. Rapamycin replaces the function of the tuberous sclerosis genes to shrink the size of the tumors throughout the body and may be useful in the treatment of seizures as well.
The side effects of rapamycin include:
- Suppression of the immune system
- Sore in the mouth
- Elevated cholesterol
Because of these side effects, Dr. Franz and the Tuberous Sclerosis team monitors each patient very closely. The results of the rapamycin study to date are encouraging, but more studies will need to be done to further confirm these results.
"Ryan has continued to really amaze us with his ongoing improvements and accomplishments," said Cindy Tudor. "We're very hopeful about this new alternative approach to treating tuberous sclerosis."
Rapamycin Brings News Beginnings for Ryan
At the time Ryan began rapamycin, he had a brain tumor called a sega (subependymal giant cell astrocytoma), which would have meant more surgery without this new treatment. He was also having 1-2 seizures a day.
Ryan has already undergone two major brain surgeries at Cincinnati Children's, both to help control his seizures and to remove tumors on the brain. The first procedure was a tuberectomy, where a tumor thought to be causing Ryan's seizures was removed from the brain.
The second major brain surgery was to remove a sega using a balloon procedure, performed and pioneered by Kerry Crone, MD. (Learn more about this new surgical treatment for brain tumors.)
After beginning rapamycin, this newest tumor began to reduce in size and the seizures went away. Ryan is now able to zip his jacket, tie his shoes and count to 5 -- things that seemed next to impossible before this new treatment. "It's almost like someone turned on a light switch," said Joyce. "He's more cognitively there, more interactive."
"He's always happy," Joyce said about Ryan. "He just keeps going and that's what it's all about."
Joyce and Michael offer this advice to other families:
- Always try. It may be new but you never know what will happen.
- Never give up hope.
"Ryan has taught us so much," said Joyce. "He's taught us simplicity, to see the good in everything."
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