I clearly remember the first time I heard the words “tuberous sclerosis complex.” It was eleven years, two weeks and four days ago. I will never forget that day.
My husband, Matt, and I were at the Medical University of South Carolina with our 3-year-old daughter, who began having seizures a few days prior. We had seen a neurologist and had some testing done the day before.
We heard a knock on the hospital room door early that morning. The neurologist and a neurology nurse practitioner came in and gave us the news.
“Chloe has a genetic disease called ‘tuberous sclerosis complex,’” the doctor told us.
He explained that tuberous sclerosis complex causes tumors to grow in the vital organs, most often in the brain, heart, kidneys, skin, eyes and lungs. He said Chloe’s brain MRI showed she had tube-shaped growths called “tubers,” a hallmark of the disease, and they were most likely causing her seizures.
The neurologist said TSC could cause autism, but he assured us that Chloe did not show any signs.
Later that day, a nurse came in to check Chloe’s vitals and asked me if her blood pressure was always high. I had no idea her blood pressure was high until she told me!
An ultrasound of Chloe’s kidneys later that day explained it. She had multiple cysts on both kidneys, another symptom of TSC. Six months later, we found out she also had polycystic kidney disease, which occurs in a small percentage of TSC patients.
Chloe also had tumors in her left eye and lesions on her skin. Thankfully, her heart was perfect.
After we were given Chloe’s diagnosis, the nurse practitioner suggested we visit the Tuberous Sclerosis Alliance’s website. While it was overwhelming to read about all the different ways the disease could manifest itself, we needed to learn as much as we could about TSC so we could give our daughter the best possible chances.
Going to the TS Alliance’s website was the best thing we could’ve ever done for our little girl. It not only provided us with the most accurate and detailed information about this scary thing we were facing; it also gave us hope. The TS Alliance helped us find the best doctors in the world, identify the best treatments and give Chloe the best possible outcome.
I quickly connected with the TS Alliance and was put in touch with a family in Columbia who had a child with TSC. Since then, we’ve met hundreds of people fighting this disease, including several in South Carolina. We have even become friends with another family right here in Bluffton.
Stephany Hurst and her 6-year-old daughter Ivy both have TSC. Stephany’s kidneys are filled with tumors, but she is considered to have a mild case of TSC. Ivy has battled seizures since her diagnosis at about 6 months old. She was diagnosed with autism last year, and is nonverbal and developmentally delayed.
“But none of her struggles have dampened her joy,” Stephany said. “She is one of the happiest, silliest kids you’ll ever meet. God’s design for her was no mistake. She is a gift and brings joy to all who know her.”
When your child is diagnosed with a rare disease, you wonder what the future holds. Will she always have seizures? Will she develop more tumors and cysts? Will she live a normal lifespan?
The hard truth is we just don’t know. TSC affects each person differently. Some have severe learning disabilities, behavioral problems and hundreds of seizures a day. Others might have a few tubers and skin lesions but never have any other symptoms.
Chloe was eventually diagnosed with a subependymal giant cell astrocytoma, or SEGA as we call it in the TSC world. SEGAs are brain tumors caused by TSC.
Again, Chloe was lucky in that hers was not in a dangerous location – it was not blocking the cerebral spinal fluid from flowing, which could cause hydrocephalus and possibly even death.
Chloe is now 15 years old, and she has directly benefited from the efforts of the TS Alliance. Since her diagnosis 11 years ago, the organization’s grassroots efforts led to the first FDA-approved drug for SEGAs.
In 2012, Chloe started the drug, everolimus, and has had life-changing results. Her SEGA has shrunk, the tumors in her eye have disappeared, and she has far fewer cysts on her kidneys now. She also has not had a seizure in more than eight years!
Stephany and Ivy are also on everolimus and have seen some positive results. The drug is saving Stephany’s kidneys, it has reduced the size of a tumor in Ivy’s eye and has also helped with her seizures.
We are so grateful for this medicine and other treatments that have come about thanks to the TS Alliance. However, we have not won the battle just yet. We need more treatments, and we need a cure!
May is National Tuberous Sclerosis Complex Awareness Month, and May 15 was Global Tuberous Sclerosis Complex Awareness Day. The Town of Bluffton and the Town of Hilton Head Island have both issued proclamations for awareness day, and the South Carolina Governor’s Mansion was lit up blue for TSC awareness May 14-17.
This year we celebrated awareness day with the Step Forward to Cure TSC Global Virtual Walk-Run-Ride on May 15 and 16. Although the event will have passed by the time this story lands in your mailbox or on your computer screen, we will continue raising money through the end of the year.
To donate to the organization on behalf of Chloe Bredeson’s team, Chloe’s Champions, visit give.tsalliance.org/team/346610.
For more information about TSC or the TS Alliance, visit tsalliance.org.
Amy Coyne Bredeson of Bluffton is a freelance writer, a mother of two and a volunteer with the Tuberous Sclerosis Alliance.