Storybook starts conversations about little-understood disease

(ARA) – “Wednesday was a long day. We went to the hospital for a special checkup. The nurse showed us the giant, cool-looking tunnel called an MRI machine. They told Scott he was going to slide in there so they could take a picture of his brain. He’s done this before.”

For many families with children living with tuberous sclerosis complex (TSC), a serious genetic disorder, this scene may be all too familiar. Scott’s story is a part of an online children’s storybook about a young boy with TSC as seen through the eyes of his favorite toy, a stuffed dog named Turbo.

This eBook, called “Turbo and Scott,” was developed to help foster discussion with kids, family members and friends about this complex disease in an accessible way. In addition to highlighting the duo’s everyday adventures, the story, written by children’s author John Grandits, addresses some of the challenges children with TSC may face, from frequent doctor visits to living with skin lesions and seizures.

Also known as tuberous sclerosis (TS), TSC affects approximately 25,000 to 40,000 people in the US and may cause noncancerous tumors to form in vital organs, including the brain, kidneys, heart, lungs and skin. The disease is associated with a variety of resulting disorders including seizures, developmental delays and life-threatening brain swelling (hydrocephalus). For both those living with the disease and their caregivers, TSC can often impact their quality of life.

“Facing the challenges of a TSC diagnosis on a daily basis can be stressful or even overwhelming, for the entire family,” said Kari Luther Rosbeck, President and CEO of TS Alliance, who authored the foreword of the TSC eBook. “‘Turbo and Scott’ will hopefully help alleviate some fears and encourage meaningful discussion about living with TSC.”

The eBook was sponsored by Novartis Pharmaceuticals Corporation and developed as part of a unique collaboration with input from patient advocates, a TSC-treating physician and several parents of kids with TSC. The TSC community contributed to the eBook, with parents submitting photographs of kids with TSC, and children with TSC developing original artwork, all of which are featured as illustrations in the eBook. The TSC eBook also features a “Note to Parents” authored by Dr. Robert Flamini, Director of TSC Clinic, Medical Director of The Children’s Epilepsy Center at Children’s Healthcare of Atlanta, who provided guidance on the TSC eBook.

In addition to the children’s story, the TSC eBook also features a “Q&A for Curious Kids” explaining key TSC facts and terms in child-friendly language, which may help parents answer difficult questions their children may have about the disease.

The TSC eBook is available free of charge at www.TSCstory.com.

Fast Facts about TSC:
* Diseases with similar US prevalence rates include cystic fibrosis and Lou Gehrig’s disease (amyotrophic lateral sclerosis or ALS).
* One-third of all patients with TSC genetically inherit the disease, while in the remaining patients, the disease is acquired as a result of spontaneous genetic mutation.
* Many patients show evidence of TSC in the first year of life; however, many cases are undiagnosed in infants due to mild forms of initial symptoms.