When doctors couldn’t stop her daughter’s seizures, this mom earned a PhD and found a treatment herself.
Savannah Salazar (left) and her mother, Tracy Dixon-Salazaar, who earned a PhD in neurobiology in the quest for a treatment of her daughter's seizure disorder.
Twenty-eight years ago, Tracy Dixon-Salazaar woke to the sound of her daughter, two-year-old Savannah, in the midst of a medical emergency.
“I entered [Savannah’s room] to see her tiny little body jerking about violently in her bed,” Tracy said in an interview. “I thought she was choking.” When she and her husband frantically called 911, the paramedic told them it was likely that Savannah had had a seizure—a term neither Tracy nor her husband had ever heard before.
Over the next several years, Savannah’s seizures continued and worsened. By age five Savannah was having seizures dozens of times each day, and her parents noticed significant developmental delays. Savannah was unable to use the restroom and functioned more like a toddler than a five-year-old.
Doctors were mystified: Tracy and her husband had no family history of seizures, and there was no event—such as an injury or infection—that could have caused them. Doctors were also confused as to why Savannah’s seizures were happening so frequently despite trying different seizure medications.
Doctors eventually diagnosed Savannah with Lennox-Gaustaut Syndrome, or LGS, an epilepsy disorder with no cure and a poor prognosis. People with LGS are often resistant to several kinds of anti-seizure medications, and often suffer from developmental delays and behavioral problems. People with LGS also have a higher chance of injury as well as a higher chance of sudden unexpected death (SUDEP) due to the frequent seizures. In about 70 percent of cases, LGS has an identifiable cause such as a brain injury or genetic syndrome. In about 30 percent of cases, however, the cause is unknown.
Watching her daughter struggle through repeated seizures was devastating to Tracy and the rest of the family.
“This disease, it comes into your life. It’s uninvited. It’s unannounced and it takes over every aspect of your daily life,” said Tracy in an interview with Today.com. “Plus it’s attacking the thing that is most precious to you—your kid.”
Desperate to find some answers, Tracy began combing the medical literature for information about epilepsy and LGS. She enrolled in college courses to better understand the papers she was reading.
“Ironically, I thought I needed to go to college to take English classes to understand these papers—but soon learned it wasn’t English classes I needed, It was science,” Tracy said. When she took her first college science course, Tracy says, she “fell in love with the subject.”
Tracy was now a caregiver to Savannah, who continued to have hundreds of seizures a month, as well as a full-time student, studying late into the night and while her kids were at school, using classwork as “an outlet for the pain.”
“I couldn’t help my daughter,” Tracy said. “Studying was something I could do.”
Twelve years later, Tracy had earned a PhD in neurobiology.
After her post-doctoral training, Tracy started working at a lab that explored the genetics of epilepsy. Savannah’s doctors hadn’t found a genetic cause for her seizures, so Tracy decided to sequence her genome again to check for other abnormalities—and what she found was life-changing.
Tracy discovered that Savannah had a calcium channel mutation, meaning that too much calcium was passing through Savannah’s neural pathways, leading to seizures. The information made sense to Tracy: Anti-seizure medications often leech calcium from a person’s bones. When doctors had prescribed Savannah calcium supplements in the past to counteract these effects, her seizures had gotten worse every time she took the medication. Tracy took her discovery to Savannah’s doctor, who agreed to prescribe her a calcium blocker.
The change in Savannah was almost immediate.
Within two weeks, Savannah’s seizures had decreased by 95 percent. Once on a daily seven-drug regimen, she was soon weaned to just four, and then three. Amazingly, Tracy started to notice changes in Savannah’s personality and development, too.
“She just exploded in her personality and her talking and her walking and her potty training and oh my gosh she is just so sassy,” Tracy said in an interview.
Since starting the calcium blocker eleven years ago, Savannah has continued to make enormous strides. Though still unable to read or write, Savannah enjoys puzzles and social media. She’s “obsessed” with boys, says Tracy. And while Tracy suspects she’ll never be able to live independently, she and her daughter can now share more “normal” moments—something she never anticipated at the start of Savannah’s journey with LGS. While preparing for an event, Savannah helped Tracy get ready.
“We picked out a dress and it was the first time in our lives that we did something normal as a mother and a daughter,” she said. “It was pretty cool.”
Rooting for Your Ancestors Doesn’t Make You Racist
A group of people waving flags in a World Cup theme.
Editor's Note: This op/ed is in response to our Big Question of the month: "Should shared genetics play any role in encouraging sports fans to root for a certain team?"
A soccer fan can usually explain why he chose to love his team, but there is seldom any logic to it.
If it takes a mail-order DNA test to get you into the game, then swab your cheek and join the party.
Maybe he likes the colors, or maybe his mom grew up in the city where the team plays. Maybe a certain elegant Dutchman (Marc Overmars) played for a certain London club (Arsenal) during the most impressionable years (the late '90s, roughly) in the life of a young person (me), and that poor child continued to follow that poor club decade after losing decade, even though he lived in Florida, where games were only sometimes shown on TV and he missed most of them anyway, and, besides, this was long after the Dutchman had ceased being an employee of that club to which the young Floridian had absolutely no spiritual or economic connection.
I digress.
Maybe the fan simply picked the most dominant team at the moment he discovered the sport, thereby choosing Manchester United, which is just another way of saying he gets off on the suffering of others. Or maybe he took a mail-order DNA test, found out he was 1/12 French, and decided it would be Les Bleus or bust this summer at the World Cup.
A company called 23andMe hopes that millions of American fans, casting about for a team to support since their own failed to qualify for the World Cup, will take that last path. The TV spots hawking the service are already blanketing Fox Sports. And while I happen to think that soccer is a highly interesting sport for lots of better reasons, my position is that if it takes a mail-order DNA test to get you into the game, then swab your cheek and join the party.
The point is, soccer is an exercise in the arbitrary. Your favorite player will probably miss the goal. The referee will probably make the wrong call. Your team will probably lose. You will probably get angry and then you will get sad and then, next week, you'll start the cycle again, over and over, ultimately infecting your offspring with the same illogical obsession so that you'll have someone else to be miserable with.
Choose misery with a chance of joy, I say. Choose empathy and random connection.
Maybe, because of a DNA test, you'll choose to care about the national soccer team of Egypt or Colombia or South Korea. The best that can happen is that you might plug in with a group of people who live far away in Egypt or Colombia or South Korea. You might, for a moment, share in their suffering and delight in their triumphs. You might empathize with strangers for no other reason than the fact that your great great great great great great great great great great grandmother was born in a crude hovel somewhere in the Nile Delta.
Whoa! Cool! That's the splendor of soccer… and advances in our understanding of the human genome, I suppose.
A leading bioethicist has suggested that 23andMe's campaign could inflame racial animosity, but that seems unlikely to me, because if we could alter the allegiances and behavioral patterns of actual soccer hooligans—for better or worse—by appealing to science and reason, they would already be extinct. No, the worst that could happen is that you'll waste a few hours of your life screaming at a TV show featuring two groups of men who are being paid millions of dollars to determine who is more proficient at placing a small orb between two sticks.
Choose misery with a chance of joy, I say. Choose empathy and random connection. Choose Iceland, even though it's unlikely you have any Icelandic ancestors, because it's the smallest country ever to qualify for the World Cup and what did Iceland ever do to you? Just don't choose Germany—they don't need your help.
[Ed. Note: To read the counter viewpoint, click here. Then visit leapsmag on social media to share your opinion: Who wins this debate?]
Soccer Fans, Don’t Root for a Team Based on Genetics
A soccer ball through glass.
Editor's Note: This op/ed is in response to our Big Question of the month: "Should shared genetics play any role in encouraging sports fans to root for a certain team?"
23andMe is taking a lot of heat as one of the DNA aggregators whose databases may not be secure from prying third-party eyes. That is a huge issue, but the company is engaging in even more troubling behavior—using genetics to sponsor racism.
The ad campaign urges that you choose to root for a team based on genetics—theirs and yours.
There is plenty to condemn when it comes to racism in international sports. Fans taunting black and minority athletes is a huge problem. No sport has been as beset by racial taunting as soccer. Which is why the current advertising campaign by the genetic testing company 23andMe and Fox sports is especially foul.
With the U.S. men's team eliminated from the 2018 FIFA World Cup in Russia, many potential American fans were left without a primary rooting interest in the upcoming summer tournament. And that would be a disaster for Fox, which will be carrying the games.
The network teamed up with 23andMe to urge American soccer fans not to tune out the World Cup. Instead the ad campaign urges that you choose to root for a team based on genetics—theirs and yours. Given the fact that ethnicity and race are mainly cultural and social constructs, not biological, this suggestion seems more 19th than 21st century in terms of its justification.
The ads say, "root for your roots." Send your spit off to 23andMe for a DNA test and you might discover most of your genes came from one of the countries that did qualify for the biggest event in soccer. Saudi Arabia, for example. Or Panama, Argentina, Serbia, Senegal or Iran. So if you and the team have the same genes - voila, you have someone and something to root for. Soccer hooligan bigots everywhere must be thrilled by this twaddle.
There is no correlation between genetics and who is a member of a nation's soccer team. People from many ethnic and racial backgrounds play for many nations. There is no Argentinian or Croatian team genotype. And why would information about your genetic ancestry lead you to root for a particular athlete or team? How about the team's skill, not their skin color or biological makeup?
What genetic difference is it that we are going to root for anyway—the immune system differences between Switzerland and Egypt?
And are there really genes to be found that determine with certainty that you or the team you are watching are really Panamanian? Hardly. Panama is a political entity that came into existence in 1903 not a biological species. And, do we really need an ad campaign telling us, falsely, that the nations of the Earth can be sorted out neatly into clear racial groups based on their heredity? What genetic difference is it that we are going to root for anyway—the immune system differences between Switzerland and Egypt? Markers for bone density between Argentinians and Russians?
The 'root for your roots' campaign comes at a horrible time, just when FIFA is trying to root the racism out of the World Cup. It is built on bogus science about the genetics of how we define nations and ethnic groups. It appeals to the racism in us to pick a team we can root for. And it reinforces racial and ethnic stereotypes about human behavior and nationhood that are rooted in history, culture, economics, colonialism and prejudice, not ancestry, genetics or biology. This is not the way to introduce the world to genetic testing.
[Ed. Note: To read the counter viewpoint, click here. Then visit leapsmag on social media to share your opinion: Who wins this debate?]