Image For Blog Post

May 31, 2024

Finding Hope and Power on the Tuberous Sclerosis Complex (TSC) Journey

Vanessa Vazquez spends her workday helping students at Florida International University plan for their futures, unsure whether her son, Max, will ever get the same opportunities.

At just two weeks old, Max was diagnosed with tuberous sclerosis complex (TSC). TSC is a rare, multisystem genetic disorder often characterized by non-cancerous tumors, skin abnormalities, and severe neurological manifestations including refractory seizures and neurodevelopmental delays.

“TSC is on the rare disorder list, but it isn’t rare to me,” Vanessa commented. In fact, there are nearly two million people worldwide who are estimated to be living with TSC, with approximately 50,000 of those living in the United States.

But for Vanessa and her family, navigating life with TSC comes down to resilience, seeking out your community in the face of the unknown, and self-determination.

RESILIENCE: “Don’t take no for an answer.”

Max was born in 2008 with five tumors in his brain, two in his heart, several skin manifestations, and developmental delays that became increasingly apparent within the first year of his life. “We spent what should have been the most glorious weeks of our lives with our newborn in the NICU for the next three months,” Vanessa recalls, with Max experiencing milestones like his first bath with the nurses, instead of his parents.

He was initially misdiagnosed with benign neonatal sleep myoclonus, a sleep-related movement disorder occurring in very young infants characterized by fast, repetitive jerks of large muscles (e.g. arms, legs, torso) during sleep. This triggered other testing, including a spinal cord test and MRI, and within 24 hours it was determined that Max actually suffered from TSC.

With so little known about TSC at the time, Vanessa recalls one doctor telling her and her husband their child “would not live longer than three months,” a terrifying prognosis that thankfully proved to be false.

Since then, Max has cycled through countless therapies and treatments. The struggle of navigating the U.S. healthcare system, with limited state resources and numerous insurance stipulations, has been “a huge challenge” for the family, Vanessa adds.

Despite managing his condition in early childhood, when Max turned 13, everything changed. He suffered his first tonic-clonic seizure (previously named a grand mal seizure), causing a loss of consciousness and violent muscle contractions, as Vanessa and her husband sought assistance over the phone from Max’s physician while pulled over on a Miami turnpike.

Although the family completed several training courses for seizure management, Vanessa emphasizes that nothing prepares you for the first one, knowing that the family “were going to have to deal with seizures for the rest of our lives.”

At 14, Max experienced another seizure, and was taken to the ER where they put him on antiseizure medication. Vanessa recalls how the medication “did not agree with [Max]” and believes this, in combination with hormonal changes, put Max in a “spiral”, manifesting TSC-associated neuropsychiatric disorders, also known as TAND.

“We would rather deal with a grand mal seizure any day of the week than TAND”, Vanessa comments. The decline of Max’s mental health, and diagnosis of OCD and sleep disorders, contributed to his journey from honor roll student, to being unable to function in a standardized school setting. Now, at the age of 16, Max continues to experience significant TAND related challenges and has struggled to find an effective treatment regimen.

Vanessa stresses that although it can be scary, she and her husband have become better at identifying the signs preceding seizures. Now, they ensure that rescue medication is readily accessible at all times, including in the car.

TSC COMMUNITY: “You are not alone.”

The relationships Vanessa, her husband, and Max have built with other TSC families over the years through the TSC Alliance have been an invaluable source of support. “Your own direct family will never understand what the TSC journey is like,” she shared candidly, “but another TSC family will.”

Vanessa became a Board Member of the TSC Alliance, an internationally recognized nonprofit dedicated to improving the lives of people with TSC, having spent years advocating for the organization. Her role on the Board enables her to “have a voice on where research is directed.”

For instance, Vanessa believes that the impact of TAND, of which 9 out of 10 TSC patients will develop at some point in their lives, is chronically under researched. TAND may include autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), anxiety, depression, and impulsivity.

As a Spanish-speaking representative, Vanessa can also communicate on behalf of an already underrepresented community within the TSC space. Being “empowered to do something for your child,” she adds, has helped her to assist other families experiencing the same challenges and milestones as her own.

Through the TSC Alliance, Vanessa has also met with patient advocates who have become role models for Max, inspiring him to live his life to the fullest. She remembers her first meeting with a gentleman during a TSC Alliance advocacy trip to Washington D.C. This adult with TSC, who participated extensively in several TSC Alliance volunteer capacities, gave Vanessa the one validation she had been desperately seeking for her son’s future—he was happy.

Vanessa recalls his joy of being married with two children, and his hopes for the future of TSC as a volunteer, community leader, and board member at the TSC Alliance. Although he has since passed, Vanessa continues to use his inspiring legacy and eternal optimism to guide her and her family’s TSC journey.

Recently, the Vazquez family joined other TSC families on a group vacation, allowing parents to connect, and kids the freedom to enjoy themselves in an environment that encouraged mutual patience, empathy, and comfort.

SELF DETERMINATION: “Whatever it takes, I can do this.”

Throughout the years, Vanessa has continued to pull “superhero” strength from Max, and the incredible clinicians who have remained by the family’s side, including Dr. Ian Miller, who joined Marinus Pharmaceuticals in 2021 to help advance research and care for TSC patients.

During the COVID-19 pandemic, she relied on telehealth to schedule appointments with a specialist at a TSC clinic in another state. “Appointments with our TSC expert physician are conducted via telehealth and are incredibly valuable to me and my family. If insurance companies would approve telehealth nationwide, it could have an amazing impact on TSC families.”

Speaking with Vanessa, you immediately sense her sheer determination to change the future of TSC for her family, and so many others. She envisions a future for TSC that prevents separating physicians from their pediatric patients due to geographic location or insurance constraints, and delivers affordable medication and therapeutic offerings for patients and families.

Her final advice for parents who have recently received a TSC diagnosis is to trust in the value of parental intuition. If you believe a medical decision has been made that doesn’t fit your own assessment of your child’s behaviors, go forward with confidence and persistence to ensure you receive the suitable support you need.

Furthermore, she recommends self-care as an essential part of living with TSC. Vanessa advises parents pay attention to their own wellbeing to enable their ability to care for their child’s needs.

For Vanessa and her family, living with TSC will always be a part of their lives. But finding purpose in driving change for her community has given her “hope and power” to leave something greater ahead for Max’s future, no matter what he faces.

To learn more about TSC, visit our page here.