Francesca "Frannie" Schmidt was born with tuberous sclerosis complex, a genetic disorder that causes tumors to form in many different organs. Her mother, Nicole, shares how desperation for effective medical treatment brought the family to Cincinnati Children's and how the care Frannie received here changed their lives.
I hardly noticed Frannie's seizures at first because they weren't dramatic. She really looked more like she was stretching than seizing. But when she was about 2 months old, the episodes became more frequent and closer together. She was hospitalized for extensive testing and within three days doctors diagnosed her with tuberous sclerosis complex, or TSC.
With TSC, the gene in the body that suppresses tumor growth is broken. It can be mild or severe and there is no cure. Some people have TSC and don't even know it because their symptoms — such as white spots on their fingernails and rough patches of skin — are so minor. But some people have severe symptoms, which can include seizures, tumors in the liver, kidneys and lungs, developmental delays, autism and many others. People with problems like these can have a normal life expectancy, depending on how the disease progresses. But complications can be fatal. For example, some TSC patients develop cancerous tumors or, like Frannie, multiple tubers that cause seizures and affect brain function.
When my husband and I learned about Frannie's diagnosis, the news was hard to absorb. Her neurologist couldn't predict how TSC would affect her, and he wasn't sure that her seizures could be controlled. The future was so uncertain and we were terrified.
Our neurologist in Seattle worked with us for about 8 months to control Frannie's seizures through medication. Meanwhile, we enrolled her in a special preschool program for babies and children with special needs. We also got her into physical and occupational therapy to overcome the developmental delays that go hand in hand with the disease.
Looking for New Therapies
When Frannie was about 9 months old, the anti-seizure medication stopped working and she was having 15-20 seizures a day. Our neurologist tried using another drug in addition to the one she was on, but nothing stopped the seizures. We had been hearing good things about the Tuberous Sclerosis Clinic at Cincinnati Children's and decided to call David Neal Franz, MD, a pediatric neurologist. He was so kind and understanding, and he urged us to bring Frannie to Cincinnati for a consultation.
At that first appointment, Dr. Franz took one look at Frannie's test results from six months earlier and could tell that the TSC was affecting her kidneys. He diagnosed her immediately with TSC-related polycystic kidney disease, which causes fluid-filled sacs to form in the kidneys and can eventually lead to high blood pressure and kidney failure. He told us to find a nephrologist (kidney specialist) in Seattle who could begin treating her, which we did.
After that first visit to Cincinnati Children's, we decided to continue seeing Dr. Franz, even though we lived almost 2,000 miles away. For one thing, he had pretty much saved Frannie's kidneys. Also, he was very optimistic for our daughter, and that was encouraging because of his experience — he had 400 TSC patients at the time. We began coming to Cincinnati Children's about every four months to see how Frannie's condition was progressing and to make sure we were doing everything possible to help her.
Deciding to Have Brain Surgery
For a while, Dr. Franz was able to more or less control Frannie's seizures with medication. But when she was about 2, the meds were becoming less and less effective. Dr. Franz felt we needed to consider surgery to remove as much of the problematic tumors as possible from her brain. He referred us to the Epilepsy Surgery Program.
We met with an epileptologist who told us that time was running out for Frannie: The seizures were preventing her brain from developing and if we didn't do something drastic to control them, she would start to regress developmentally. The good news was that he felt surgery could help, so we met with a surgeon to learn more.
The surgeon explained there would be two surgeries. During the first, he would open up Frannie's skull and place electrodes directly on her brain. For the next few days, Frannie would be allowed to seize repeatedly. The electrodes would collect data that the epileptologist would use in conjunction with imaging technology to create a map of the brain to locate the tubers, decide which ones could be removed safely and plan a surgical path. A second surgery would be performed to remove the tubers.
There are no words to express how frightening, stressful and upsetting it was for my husband and I to say yes to the surgery. One wrong move in the operating room could cause paralysis or brain damage. But at this point, Frannie's situation was dire. Surgery was her only chance at having a normal life so we decided to move forward.
The first surgery was such a strange and uncomfortable feeling to entrust our child to other people, but at the same time we believed in our epilepsy team at Cincinnati Children’s. In fact, by the time Frannie was discharged from the hospital, we pretty much worshiped the whole medical team. They are incredibly skilled, but what's more they are kind, caring people who love children. Those doctors and nurses are our heroes.
Both surgeries went very well. Frannie’s surgeons were able to remove the tubers that were affecting her speech, but the ones affecting her gross motor skills were in too sensitive an area so they could not remove them. Three weeks after Frannie's surgery, we returned home to Seattle.
Slow but Sure Improvement Life After Surgery
I had hoped Frannie's seizures would stop completely after the surgery. Instead, they subsided gradually. That was good news, but what we were really excited about was how quickly she started to pick up new developmental skills. She began using new words and just five months after surgery, she began to walk. She has been seizure free for two years.
Today, Frannie continues to be on anti-seizure medication, just to be safe, and blood pressure drugs. We return to Cincinnati Children's every year for a check-up and for tests to ensure that the remaining tubers in her brain are not growing. She's still a bit behind on her developmental milestones, but she is catching up.
Although we don't know what the future holds, we are hopeful. Dr. Franz continues to be very optimistic and believes Frannie will go to college someday. For now, we are just thankful for our happy daughter, who brings us so much joy.