Rare disorder grows tumors that cause seizures

Some days Lisa Brown wants to cry.

Some days she wonders why her daughter has to suffer.

But most days, the Jackson mother feels blessed.

The Southeast Missouri State women's basketball team cheered Monday night after learning they will play the Oklahoma Sooners Saturday in Austin, Texas, in the NCAA Tournament.Lisa and Charlie Brown's 8-year-old daughter, Natalie, has a rare genetic disease called tuberous sclerosis. The disease causes benign tumors, or tubers, to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs and skin. TS also causes Natalie to have violent epileptic seizures.

Natalie, who was born Nov. 20, 1998, is the couple's second child. They were high school sweethearts whose first child, Garrett, now 13, was born four years after they got married.
When Natalie was born, she developed normally and was a healthy baby girl. But in October 1999, when Natalie was 10 months old, her parents woke up in the middle of the night to the sound of their daughter's abnormal breathing.

Lisa, whose younger sister had seizures as a child, quickly realized her infant daughter was having one. The couple rushed Natalie to the emergency room.

Doctors performed various tests on Natalie that revealed she could have one of two conditions: bleeding on the brain or tuberous sclerosis.

"We knew neither was a good option, but at the time I was more worried about the bleeding on her brain," Lisa said.

But doctors told the Browns that tuberous sclerosis would be a worse prognosis because it would affect Natalie for the rest of her life. Additional testing revealed Natalie had the rare genetic disorder.

"At that time, I felt like my wall started crumbling around me," Lisa said. "Here we had our little boy and our little girl, and as a parent, you didn't want anything bad to happen to either of them."

The Browns quickly learned everything they could about tuberous sclerosis. The disorder affects about 40,000 people in the United States, and an estimated one in 6,000 babies are born with TS each year. Some individuals can inherit the disorder from a parent with tuberous sclerosis, but most cases occur due to a faulty gene mutation.

The prognosis for people with tuberous sclerosis depends on the severity of symptoms. Some individuals with mild symptoms can live long, productive lives, but some may have more serious disabilities.

In Natalie's case, doctors found numerous tubers on her brain, kidneys and a spot behind her right retina. The tubers on Natalie's brain cause her to have seizures, which range from small tremors to status epilepticus, or seizures that last more than five minutes. Without emergency attention, the status seizure can cause permanent brain damage or be fatal.

Emergency room

From the time of Natalie's diagnosis until she was 3 years old, she had numerous status seizures.
"We went through periods where we were at the hospital four or five times a month," Charlie said. "We basically had a relationship with the emergency room doctors because we were up there so much."

Natalie was prescribed various seizure medications, which caused her to have mood swings and extreme vertigo.

"That was a very bad time for our little girl," Charlie said. "She would curl up in a little ball and sit in the corner and cry. It was tough to watch."

On one occasion to the emergency room, when Natalie was 3 years old, she had a status seizure that lasted about four hours.

"We couldn't get her to stop," Charlie said. "The doctors were exasperated. We were running out of options."

A St. Louis Children's Hospital doctor told the Browns he was concerned with the number of seizures Natalie was having and recommended they consider epileptic brain surgery.

"Every time Natalie had one of these seizures, she could die," Charlie said. "So we agreed to look into the epileptic surgery."

Surgery'

Tests determined that Natalie was a candidate for the surgery, which would consist of removing a portion of Natalie's brain where the seizures originated.

"Most kids with tuberous sclerosis don't have the option to do this surgery because their seizures come from too many different places," Charlie said.

Doctors told the Browns the surgery could help reduce or eliminate Natalie's seizures, but she might become paralyzed on the left side of her body and lose vision in her left eye.

"We were faced with the fact that we were going to take away the one thing our girl has, which is physicality and the ability to run, jump, play outside, or you're going to keep her from dying," Charlie said.

Natalie underwent the brain surgery Jan. 28, 2003.

"That was the hardest thing to ever see your child go through," Lisa said.

Doctors told the Browns that Natalie would be confined to her bed for about 15 days after the surgery. But Natalie was running down the hospital's halls two days after the procedure.

"It was a miracle, and as far as we can tell she's never had one sign of paralysis on her left side or any blindness," Charlie said.

Four years later, Natalie is still not seizure-free, but the surgery reduced the number of status seizures she has. Instead of four status seizures a month, Natalie has gone for periods of up to 10 months without a seizure.

'Truly is a blessing'

"Looking back on where she's come from, would I have done the surgery again? Absolutely," Charlie said.

Lisa agrees.

"You have to do something at some point," she said. "We thank God for what he's given us and the blessing that Natalie is, and she truly is a blessing."

Two years ago, Lisa became pregnant again.

"With what we had gone through with Natalie, we weren't planning to have any more children because we were worried the tuberous sclerosis started from us," Lisa said. "So when I got pregnant again, we were really worried."

On Jan. 7, 2005, Gabriel Brown was born. So far Gabriel has no signs of tuberous sclerosis.
Unknowns about Natalie's condition remain. Even though Natalie is homeschooled by teachers from the Jackson School District, her learning has plateaued. She has the mental capacity of a 2-year-old. Doctors continue to monitor her and check for the growth of additional tubers. So far, the tubers on her kidneys haven't caused any problems, but they could as she goes through hormonal changes.

Like most 8-year-olds, Natalie enjoys playing outdoors and loves to swim. Her parents have to monitor her time outside during the summer months because a side-effect of her medication doesn't allow her to sweat.

The Browns say they don't focus too much on Natalie's future but love watching their 8-year-old daughter dance to country music.

"You can't focus on the fact that she might never get married or fall in love," Lisa said. "We don't let that control our lives."

No one knows what Natalie's mental capacity will be, but the Browns say they'll do whatever they can for their daughter.

"We're going to teach her and play with her, and if she grows, she grows," Charlie said. "But if she doesn't, I'm going to love her anyway."