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.”
Pregnant and Breastfeeding Women Might Have a New Reason to Ditch Artificial Sweeteners
A mom cradles her newborn baby.
Women considering pregnancy might have another reason to drop artificial sweeteners from their diet, if a new study of mice proves to apply to humans as well. It highlights "yet another potential health impact of zero-calorie sweeteners," according to lead author Stephanie Olivier-Van Stichelen.
The discovery was serendipitous, not part of the original study.
It found that commonly used artificial sweeteners consumed by female mice transfer to pups in the womb and later through milk, harming their development. The sweeteners affected the composition of bacteria in the gut of the pups, making them more vulnerable to developing diabetes, and greatly reduced the liver's capacity to neutralize toxins.
The discovery was serendipitous, not part of the original study, says John Hanover, the senior author and a cell biologist at the NIH National Institute of Diabetes and Digestive and Kidney Diseases. The main study looked at how a high sugar diet in the mother turns genes on and off in the developing offspring.
It compared them with mothers fed a low sugar diet, replacing sugar with a mix of sucralose and acesulfame-K (AK), two non-nutrient artificial sugars that are already used extensively in our food products and thought to be safe.
While the artificial sweeteners had little effect on the mothers, the trace amounts that were transferred through the placenta and milk had a profound effect on the pups. Hanover believes the molecules are changing gene expression during a crucial, short period of development.
"Somewhat to our surprise, we saw in the pups a really dramatic change in the microbiome" of those whose mothers were fed the artificial sweeteners, Hanover told leapsmag. "It looked like the neonates were much, much more sensitive than their mothers to the sucralose and AK." The unexpected discovery led them to publish a separate paper.
"The protective microbe Akkermansia was largely missing, and we saw a pretty dramatic shift in the ratio of two bacteria that are normally associated with metabolic disease," a precursor to diabetes, he explains. Akkermansia is a bacteria that feeds on mucus in the gut and helps remodel the tissue to an adult state over the first several months of life in a mouse. A similar process takes several years in humans, as the infant is weaned off of breast milk as the primary food source.
The good news is the body seems to remove these artificial sweeteners fairly quickly, probably within a week.
Another problem the researchers saw in the animals was "a particularly striking change in the metabolism of the detoxification systems" in the liver, says Hanover. A healthy liver is dark red, but a high dose of the artificial sweeteners turned it white, "which is a sign of massive problems."
The study was conducted in mice and Hanover cautions the findings may not apply to humans. "But in general, the microbiome changes that one sees in the rodent model mimics what we see in humans...[and] the genes that are turned on in the mouse and the human are very similar."
Hanover acknowledges the quantity of artificial sweeteners used in the study is on the high end of human consumption, roughly the equivalent of 20 cans of diet soda a day. But the sweeteners are so ubiquitous in consumer products, from foods to lipstick, and often not even mentioned on the label, that it is difficult to measure just how much a person consumes every day.
The good news is the body seems to remove these artificial sweeteners fairly quickly, probably within a week. Until further studies provide a clearer picture, women who want to err on the side of caution can choose to reduce if not eliminate their exposure to artificial sweeteners during pregnancy and breastfeeding.
NASA Has the Technology to Save Us From an Asteroid Strike, But Congress Won’t Fund It
If a massive asteroid were to strike the Earth, it could be more destructive than a thousand atomic bombs.
At the biannual Planetary Defense Conference earlier this year, NASA ran a simulation of an asteroid slamming into the center of Manhattan.
For several millennia now, we've been lucky, but our luck won't hold out forever.
The gathering of astronomers, planetary scientists, and FEMA disaster-response experts attempted a number of interventions that might be possible within a time window of eight years, the given warning period before impact.
Catastrophic asteroid crashes are not without precedent, and scientists say it's only a matter of time before another one occurs—that is, if we do nothing to prevent it. It's believed that a huge asteroid crash off the coast of Mexico's Yucatan Peninsula created a worldwide disaster that helped to speed the extinction of the dinosaurs 65 million years ago.
In 1908, a meteoroid less than 300 feet in diameter exploded in the air over the Tunguska region of Siberia, creating a shockwave that leveled trees for hundreds of square miles. It's a matter of sheer luck it didn't hit a major population center, where human casualties could have been enormous.
For several millennia now, we've been lucky, but our luck won't hold out forever. There are millions of asteroids circulating about in our solar system, some of them hundreds of miles across, and although the odds of a massive one crashing to Earth in the near future is statistically low, the devastation could be apocalyptic.
Back at the conference, the experts tried sending several spacecrafts to knock the asteroid off-course by slamming into it. They considered blasting it with nuclear weapons. They even considered painting it white so it absorbed less of the sun's energy, hoping that would shift the asteroid's trajectory. In the simulations, all of the interventions failed and the giant space rock crashed into Manhattan, killing 1.3 million people in a massive explosion that was 1,000 times more powerful than the Hiroshima bomb.
NEOCam is designed, tested, and ready to build, but the project is currently frozen because of a $40 million gap in NASA funding.
Given more time, the scientists said, they might have succeeded in preventing the disaster. However, with today's asteroid-hunting telescopes, it's not likely we would have more warning. Our current telescopes are not powerful enough to detect all the near-earth asteroids, nor are they positioned well enough for sufficient detection. As recently as last week, for example, an asteroid traveling 15 miles a second narrowly missed crashing into the Earth, and it was only noticed several days in advance.
Now for the good news: There is a new technology that could buy us the time we need, says MIT planetary sciences professor Richard P. Binzel and colleagues who attended the conference. The Near-Earth Object Camera, or NEOCam, designed by NASA's Jet Propulsion Laboratory, would detect more than 90 percent of nearby objects that are 420 feet across or larger, according to Binzel.
The powerful infrared telescope is designed to sit within the L1 Lagrange point, a stable location in space where the gravitational pulls of the Earth and the sun cancel each other out. From there, large space bodies could be detected early enough to give scientists decades of warning when an asteroid is heading for Earth. NEOCam is designed, tested, and ready to build, but the project is currently frozen because of a $40 million gap in NASA funding.
The status of NEOCam, according to Binzel, is a case-study in short-sightedness and a lack of leadership. Congress needs to raise NASA's Planetary Defense budget from its current $160 million to $200 million to get the telescope built and launched into space, a goal that would seem eminently doable within the strictures of 2020's $4.75 trillion government budget. But Binzel describes a current deadlock between NASA, Congress, and the Office of Management and Budget as a "cosmic game of chicken."
If we don't use our technology to defend the planet, "it would be the most epic failure in the history of science."
In an excruciatingly budget-conscious atmosphere, "No one wants to stick their neck out and take adult responsibility" for getting the funding allocated that would unfreeze the project, says Binzel. But, he adds, "We have a moral obligation to act."
NEOCam would not only spot the overwhelming majority of asteroids in Earth's vicinity, it would determine their size and pinpoint exactly where they are likely to strike the Earth. And it would allow us decades to act, according to Binzel. Repeated ramming by an international armada of specialized spacecraft could slightly change the trajectory of an asteroid, he says. Changing the trajectory only a tiny bit, given the scale of millions of miles and several decades for the course change to take effect, could cause an asteroid to miss the Earth altogether.
"So far we've been relying on luck," says Binzel, "but luck is not a plan." Now that we have the technology to discover what's careening through our space neighborhood, it's our ethical duty to deploy it. If we don't use our technology to gain the knowledge we need to defend the planet, Binzel concludes, "it would be the most epic failure in the history of science."
Should Congress green light the $40 million budget for the new asteroid-hunting telescope? @NASA #NASA #astroid— leapsmag (@leapsmag) 1564681293.0