Gavin Chandler loves toy cars, watching Big City Greens, fans, the “Baby Shark” song, and anything that lights up or makes noise—including, his mother Jessica shares, the vacuum cleaner. He also has a fascination with Mickey Mouse; although Gavin is largely non-verbal, he points whenever he sees Mickey Mouse on the television and says, “Mouse, mouse!” One day, his family hopes to introduce him to Mickey Mouse, perhaps on a trip to Disney. To Jessica, Gavin’s love of Mickey Mouse and Baby Shark comes from two balloons that gave him comfort when he was hospitalized with seizures due to his tuberous sclerosis complex (TSC). 

The family’s journey with TSC has been difficult and overwhelming at times. In some sense, the future is uncertain. As many families facing rare disease diagnoses know, this journey can also be isolating. But, shares Jessica:

“We may bend, but never break.” 

Recently, Jessica sat down with Patient Worthy to discuss Gavin’s story, tuberous sclerosis complex, and the need for community. 

Tuberous Sclerosis Complex (TSC): An Overview 

So what is tuberous sclerosis complex (TSC)? This rare genetic disease causes noncancerous tumors to form throughout the body, often in the eyes, heart, kidneys, skin, lungs, and brain. TSC results from TSC1 or TSC2 gene mutations. Normally, these genes prevent cells from growing uncontrollably. The mutations allow cells to divide excessively, forming tumors. Around ⅓ of patients inherit these mutations; the remaining ⅔ acquire it spontaneously. This happened in Gavin’s case, with Jessica explaining:

“There are two types of TSC, with type 2 being the worst. That is the type my son has. They did tests on me and my husband to see if one of us had TSC, but we didn’t. The doctor told us that one of his genes just mutated.” 

Tuberous sclerosis complex is most often detected in infancy or childhood. However, in milder cases, people may not receive a diagnosis until they reach adulthood. The TSC Alliance shares that symptoms and severity may vary widely between those affected, even within the same family. Symptoms related to TSC can, but do not always, include:

• Facial lesions that resemble acne
• Behavioral problems such as hyperactivity, aggression, or repetitive behaviors
• Skin abnormalities such as small areas of thickened skin or patches of light-colored skin
• Growths under or around the nails
• Autism spectrum disorder
• Pitted teeth
• Developmental delays
• Kidney, lung, eye, or heart issues due to growths
• Seizures

In Gavin’s case, he has autism, sleep difficulties (sleeping just four to five hours each night), and frequent seizures. Because of this, he has to undergo seemingly endless EKGs, EEGs, and ECHOs. When his seizures are bad enough, Gavin has had to be hospitalized. 

Currently, no cure exists for tuberous sclerosis complex. However, treatment can help with symptom management, such as controlling seizures. Although some complications can arise due to TSC, most people with TSC have a normal lifespan. 

Gavin’s Story

Jessica and her husband had already had a successful pregnancy and birth prior to Gavin. They adore their daughter and were excited to bring another child into the mix. When Jessica became pregnant with Gavin, everything seemed to be going smoothly at first. One day, Jessica, her husband, and their daughter went to an appointment to learn whether Gavin would be born male or female. It was at this appointment that doctors identified a potential issue. Jessica shares:

“The doctors told me that my amniotic fluid was not moving like it was supposed to, among some other issues. After we found out the gender, the doctors put us into a room. A nurse practitioner came in to discuss everything. I was in tears when she started talking to us about Gavin so I don’t entirely remember what she said.” 

Jessica was soon considered to have a high-risk pregnancy. She went to so many doctors while she was pregnant that she almost cannot think of them all. When Gavin was born, he was officially diagnosed with TSC. 

Parenting a medically complex child has not always been easy. Jessica explains that Gavin is a very loving child, but sometimes acts like a cantankerous old man. More frustrating are the outward stares or pity Jessica gets from other parents. She shares:

“When I speak to other parents, I can see the pity in their eyes. They are most likely thinking, ‘Thank goodness my child is normal. I don’t think I could handle a special needs child.’ Yes, being a mother to a special needs child is hard. It’s hard to get any time to yourself and you feel bad when you get burnt out. I get all these false ‘I’m sorry’ or ‘I understand’ statements from other people. But they don’t understand because they are not raising a special needs child.” 

Jessica would love to meet other mothers of children with tuberous sclerosis complex who understand what she is going through and have been down the same path. If you are a parent of a child with TSC and would like to connect with Jessica Chandler, please email [email protected] and she will facilitate that connection.