Not many people expect a rare disease diagnosis out of the blue. For many, they had been seeking the correct diagnosis for years before finally being given the name of their condition. That was not the case for Colton Tallman or his younger sister Riley. An accident on the jungle gym and the ensuing trip to the hospital changed their lives forever. A routine CT scan to check for any head injuries revealed cause for concern, and after further testing, Colton was diagnosed with tuberous sclerosis complex (TSC). His parents opted to test Riley for the same genetic condition and were shocked to discover that she was also impacted. Now, they’re learning how to provide the best care while also advocating for their children.

About Tuberous Sclerosis Complex

TSC is a rare, genetic disorder that is characterized by benign tumors that form throughout the body; however, they are most common in the brain, lungs, skin, heart, and kidneys. Symptoms can range in severity and between patients depending on where these tumors grow and how many there are. Possible effects include seizures, developmental delay, issues with communication and social interaction, facial lesions, eye abnormalities, behavioral issues, and problems with the lungs, heart, and/or kidneys. Either the TSC1 or TSC2 gene is mutated in those with this condition. These genes are typically in charge of ensuring that cells do not divide and multiply too quickly. When mutated, cells can divide and reproduce out of control to form tumors. Both genes are inherited in an autosomal dominant pattern. While there is no cure, treatment can manage symptoms.

The Tallman’s Story

Nobody was expecting Colton’s diagnosis when it came. In fact, neither Phil nor Jackie Tallman really knew anything about TSC at all. Discovering that Colton had brain lesions was terrifying, and they didn’t know what it meant for his future. Fortunately, the staff at Lurie Children’s Hospital’s TSC Clinic in Chicago were extremely helpful in diagnosing and explaining. They performed an MRI and genetic testing to ensure that the diagnosis was correct.

Because TSC is genetic, the Tallman’s opted to test Riley as well. After an MRI, it was revealed that she also has TSC, and lesions were growing on her heart. While this news was concerning, doctors reassured the family that she would simply grow out of them.

After the diagnosis, all four of the Tallman’s had to make adjustments to their lives. One of the first things that they had to do was learn; they educated themselves on TSC and connected to the TS Alliance. This nonprofit works with families and connected the Tallman’s to others who had been in their shoes. It can be incredibly reassuring to talk to and confide in others who understand the situation.

Raising Colton and Riley

Through all that they have learned about tuberous sclerosis complex, Phil and Jackie realized that some of their children’s behaviors pre-diagnosis were connected to TSC. For example, Colton would often fall, which could have been absence seizures. He also showed signs of obsessive-compulsive behavior and ADHD, which are categorized as TSC-associated neuropathic disorders (TAND). Now that Colton’s parents understand his symptoms, they can figure out how to best treat them. The same goes for Riley, although she experiences fewer manifestations of the disease than her brother.

Fortunately, medication has been successful so far. Since Colton has begun receiving treatment, the lesions in his brain have shrunk enough to avoid invasive brain surgery. While this is overwhelmingly positive, the COVID-19 pandemic has thrown a wrench in things and made treatment more difficult. Telemedicine wasn’t effective with Colton, and if the family was able to make it to the specialist, they had to undergo COVID-19 testing every time.

Not only has the pandemic changed Colton’s treatment regimen, but it has isolated the family, as the medication puts him at a higher risk of serious complications from the respiratory virus. Riley is not on any medication, but she remained isolated as well to lower the risk for her brother.

Staying home from school and daycare has been difficult for both children, especially as online learning is not helpful for Colton. The extra services he received in person were unavailable, which made school difficult. Luckily, he is now able to physically go to school, play with his friends, and enjoy his childhood. Riley has returned to her life as well, which greatly improves her life.

Looking Forward

The Tallman’s have learned so much on their journey. For parents starting out on the same journey, they recommend one thing: advocate for your kids. Many people do not understand their condition, and it’s your job to explain it and fight for your child.

There are non-profits and support that can help with this, such as the TS Alliance. Reaching out to these groups can make a difference, and it also provides the opportunity to help out. The Tallman’s frequently fundraise, volunteer, and take part in research.

You can read their full story here.