A New Approach to Caring for Kids with Tuberous Sclerosis Complex

Luke Avansino, now 8, was diagnosed with tuberous sclerosis complex, a rare genetic disorder, as an infant.

Eight years ago, Dr. Jeff Avansino, a surgeon at Seattle Children’s, and his wife, Dr. Amy Criniti, welcomed their third child – a boy named Luke.

For the first few months of Luke’s life, he developed as expected. At about 6 months old, he started having spells of irritability. Avansino and Criniti, both physicians, thought it was likely due to a virus. But Luke’s spells continued.

“My wife has good intuition and knew something was wrong,” Avansino said. “She started looking into his symptoms and thought he might be having infantile spasms, or seizures.”

They took Luke in for tests and Criniti was right – Luke was having seizures. Doctors also found light colored patches on his skin. Further testing confirmed that Luke has a rare genetic disorder called tuberous sclerosis complex (TSC).

The toll of TSC

Dr. Jeff Avansino and his family on vacation. From left to right: Avansino, Luke, Mia, 12, John, 10, and Dr. Amy Criniti.

TSC causes tumors to grow in various parts of the body, including the brain and other vital organs. Though the tumors are benign, they impact a child’s development in a variety of ways, depending on where they are and how big they grow. There are about 50,000 people in the United States with the disease.

“Kids with TSC have very variable presentation of symptoms,” Avansino said. “One child can look typical but have kidney failure. Another can be physically healthy but have significant developmental delay.”

While symptoms vary, almost all kids with TSC have birth marks, and most have seizures due to tumors in their brain.

Luke, now 8, has tumors in his brain, heart, retinas and kidneys. He has taken seizure medications since he was a baby. The tumors in his brain have shrunk with medication and he’s been seizure-free for a couple years. But TSC has taken its toll.

“He has significant developmental delays,” Avansino said. “Cognitively, he’s more like a 2- or 3-year-old, but he’s making progress through intensive therapy.”

Where passion and experience collide

Because TSC is a multi-system disorder, children with the condition may need to be seen by many different specialists.

The problem, Avansino said, is that care for TSC patients across those specialty areas often isn’t coordinated, which can be difficult and stressful for families. Like many patients with complex conditions, families wind up managing their many visits, medications, procedures and more.

Avansino, who helped develop a multidisciplinary program for children with atypical development of the pelvic organs called the Reconstructive Pelvic Medicine Program, saw how a similar effort would help TSC patients get the coordinated care they need.

That awareness, coupled with his own experience as a father of a child with TSC, led him to team up with Dr. Stephanie Randle, a pediatric neurologist and epileptologist in Seattle Children’s Neurosciences Center.

Dr. Stephanie Randle, a pediatric neurologist, specializes in treating children with tuberous sclerosis complex.

Because most TSC patients have brain tumors and seizures, they’re typically seen by neurologists, and Randle has developed a growing interest in TSC.

“Parents of children with TSC would sometimes call me for guidance on the whole picture of their child’s disorder, not just the brain,” Randle said. “With other patients I see, the focus is just on the brain.”

To better coordinate care for TSC patients, Avansino and Randle recently established the Tuberous Sclerosis Complex Clinic at Seattle Children’s. As a Tuberous Sclerosis Alliance approved clinic, one of the clinic’s goals is to help families get all the care they need for their child in the fewest visits possible.

The clinic also includes a team of core providers who are essential to TSC patient care: neurologists, cardiologists, nephrologists, dermatologists and many more.

A new perspective

Luke (left) with his brother, John, and sister, Mia.

There is no firm prognosis for TSC and there is no cure. However, there is benefit to addressing a patient’s symptoms early in their care, according to Randle.

“The earlier we can start handling these kids’ symptoms while providing social and financial support, the better off they will be,” she said. “With the right coordinated care, many can have more typical development.”

For Avansino, having a child with TSC has changed his perspective on patient care. Knowing what it’s like to be in the shoes of the parents he meets, he approaches patient and family conversations with sensitivity and empathy.

It has also changed how Avansino sees people in all aspects of life.

“Everyone has their own identity,” he said. “We associate people as normal and abnormal, typical and atypical, but everyone is their own person. Luke is no different than any other kid. He has his own unique identity, which makes him so special.”

For more information or to schedule an appointment, please contact the Tuberous Sclerosis Complex Clinic at 206-987-2016.