Lesley and Alex Holmes were thrilled when they learned Lesley was pregnant with their first child in 2018. But their joy turned to despair when Lesley underwent a prenatal scan at 20 weeks. “The doctor said: this is very serious. Your child has tumors in her heart. This is very likely tuberous sclerosis complex,” Lesley said. “I was devastated. But then I had to quickly get over that because I knew I needed to help my baby.” Lesley dove into researching all she could about TSC – specifically about the cardiac rhabdomyomas which were weakening her baby.
Through sheer persistence, Lesley got clinical support to take an MTOR inhibitor – a drug normally used for children and adults with TSC — to hopefully reduce those tumors in utero. The rhabdomyomas immediately began shrinking, and their daughter, Seraphina, was delivered at 37 weeks. “The medicine saved her life,” she says. Since then, six-year-old Seraphina has experienced intermittent seizures. They have had to change medications a number of times and she ultimately underwent brain surgery at age 5. “She’s now in first grade. She’s behind in some things and has certain challenges. But she’s in general education and has many strengths. She’s a sweet kid who loves to dance and sing. And she loves her little brother,” Lesley beams.
These days, Lesley is channeling her passion into support for pioneering TSC research. “We lived firsthand how important it is for there to be research into new treatments, trying out new medications, or trying a different use of a medication, like I did.” Additionally, she says, research funded by the 
TSC Alliance has the potential to benefit other disorders, such as epilepsy. She and Alex contribute generously from their donor advised fund to the TSC Alliance for research. Their goal is to find treatments that go beyond just managing symptoms. “How do we really push the ball forward on these more novel therapies, to help move us closer to finding a cure or preventing the manifestations of TSC from ever starting?”
A top priority is fine-tuning treatment for each individual affected by the disease. “I feel very strongly about precision medicine and really being sure that we’re looking at each person as an individual. We’ve seen with seizure meds that what works for one person doesn’t work for another person. Gene therapy is another thing that people are thinking about in the rare disease world. How can we utilize this to perhaps bring about a cure for TSC?”
Lesley considers the TSC Alliance essential for all families affected by TSC – by providing robust community support, guidance on clinical care, and educational webinars. The wide-ranging assistance gives her hope for the future. “My goal is for my daughter to life a happy, fulfilled life. That’s what I want for everyone with TSC – to live their best and most fulfilled lives and for their families to be supported. And we want to do all we can to get our community there.”
Help the TSC Alliance accelerate TSC research by donating to the 50 Forward Fund!