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.”
Six Reasons Why Humans Should Return to the Moon
An astronaut does a spacewalk on the Moon.
"That's one small step for man; one giant leap for mankind."
This July 20th marks fifty years since Neil Armstrong, mission commander of NASA's Apollo 11, uttered those famous words. Much less discussed is how Project Apollo shifted lunar science into high gear, ultimately teaching scientists just how valuable the Moon could become.
A lunar-based solar power system would actually be cheaper than Earth-based solar power implemented on a global scale.
During the six missions that landed humans on the lunar surface from 1969 to 1972, Apollo astronauts collected some 842 pounds of lunar rocks and dirt. Analysis of these materials has provided us with major clues about the origin of Earth's celestial companion 4.51 billion years ago, but also has revealed the Moon is a treasure trove. Lunar rock contains a plethora of minerals with high industrial value. So let's take a look at some prime examples of how humanity's expected return to the lunar surface in the years to come could help life here on Earth.
24/7 solar energy for Earth
During the 1970s, scientists began examining the Apollo lunar samples to study how the lunar surface could be used as a resource. One such scientist was physicist David Criswell, who has since shown that a lunar-based solar power system would actually be cheaper than Earth-based solar power implemented on a global scale. Whoa! How is that possible, given the high cost of launching people and machines into space?
The key is that it would be enormously expensive to scale up enough Earth-based solar power to supply all of humanity's electrical needs, since solar power on such a scale would require a lot of metal, glass, and cement.
But the Moon's lack of atmosphere and weather means that photovoltaic cells built by robots from lunar materials can be paper thin, in contrast with the heavy structures needed in Earth-based solar arrays. Ringing the Moon, such a system would be in perpetual sunlight, making it cheaper to collect solar power there and beam it down to Earth in the form of microwaves.
A source of helium-3 for clean, safe nuclear fusion power and other uses
The gas helium-3 is extremely rare on Earth, but plentiful on the Moon, and could be used in advanced nuclear fusion reactors. Helium-3 also has anti-terrorism and medical uses, especially in the diagnosis of various pulmonary diseases.
A place to offload industrial pollution
Since there are minerals and oxygen in lunar rocks and dust, and frozen water in certain locations, the Moon is an ideal home for factories. Thus, billionaire Jeff Bezos has proposed relocating large segments of heavy industry there, reducing the amount of pollution that is produced on Earth.
The Moon could be a place for colonists to get their space legs before humans put down roots on more distant locations like Mars.
Radio Astronomy without interference from Earth
Constructed on the Moon's far side (the side of the Moon that always faces away from Earth), radio telescopes advancing human knowledge of the Cosmos, and searching for signals from extraterrestrial civilizations, could operate with increased sensitivity and efficiency.
Lunar Tourism
Using the Moon as a destination for tourists may not sound helpful initially, given that only the very wealthy would be able to afford such journeys in the foreseeable future. However, the economic payoff could be substantial in terms of jobs that lunar tourism could provide on Earth. Furthermore, short of actual tourism, companies are gearing up to provide lunar entertainment to fun-seekers here on Earth in the form of mini lunar rovers that people could control from their living rooms, just for fun.
Lunar Colonies
Similar to lunar tourism, lunar colonization sounds initially like a development that would help only those people who go. But, located just three-days' travel from Earth, the Moon would be an excellent place for humanity to become a multi-planet species. The Moon could be a place for colonists to get their space legs before humans put down roots on more distant locations like Mars. With hundreds or thousands of humans thriving on the Moon, Earthlings might find some level of peace of mind knowing that humanity is in a position to outlive a planetary catastrophe.
A woman gives a DNA sample at a Pheramor-sponsored event.
Brittany Barreto first got the idea to make a DNA-based dating platform nearly 10 years ago when she was in a college seminar on genetics. She joked that it would be called GeneHarmony.com.
Pheramor and startups, like DNA Romance and Instant Chemistry, both based in Canada, claim to match you to a romantic partner based on your genetics.
The idea stuck with her while she was getting her PhD in genetics at Baylor College of Medicine, and in March 2018, she launched Pheramor, a dating app that measures compatibility based on physical chemistry and what the company calls "social alignment."
"I wanted to use genetics and science to help people connect more. Our world is so hungry for connection," says Barreto, who serves as Pheramor's CEO.
With the direct-to-consumer genetic testing market booming, more and more companies are looking to capitalize on the promise of DNA-based services. Pheramor and startups, like DNA Romance and Instant Chemistry, both based in Canada, claim to match you to a romantic partner based on your genetics. It's an intriguing alternative to swiping left or right in hopes of finding someone you're not only physically attracted to but actually want to date. Experts say the science behind such apps isn't settled though.
For $40, Pheramor sends you a DNA kit to swab the inside of your cheek. After you mail in your sample, Pheramor analyzes your saliva for 11 different HLA genes, a fraction of the more than 200 genes that are thought to make up the human HLA complex. These genes make proteins that regulate the immune system by helping protect against invading pathogens.
It takes three to four weeks to get the results backs. In the meantime, users can still download the app and start using it before their DNA results are ready. The app asks users to link their social media accounts, which are fed into an algorithm that calculates a "social alignment." The algorithm takes into account the hashtags you use, your likes, check-ins, posts, and accounts you follow on Facebook, Twitter, and Instagram.
The DNA test results and social alignment algorithm are used to calculate a compatibility percentage between zero and 100. Barreto said she couldn't comment on how much of that score is influenced by the algorithm and how much comes from what the company calls genetic attraction. "DNA is not destiny," she says. "It's not like you're going to swab and I'll send you your soulmate."
Despite its name, Pheramor doesn't actually measure pheromones, chemicals released by animals that affect the behavior of others of the same species. That's because human pheromones have yet to be identified, though they've been discovered throughout the animal kingdom in moths, mice, rabbits, pigs, and many other insects and mammals. The HLA genes Pheramor analyzes instead are the human version of the major histocompatibility complex (MHC), a gene group found in many species.
The connection between HLA type and attraction goes back to the 1970s, when researchers found that inbred male mice preferred to mate with female mice with a different MHC rather than inbred female mice with similar immune system genes. The researchers concluded that this mating preference was linked to smell. The idea is that choosing a mate with different MHC genes gives animals an evolutionary advantage in terms of immune system defense.
The couples who had more dissimilar HLA types reported a more satisfied sex life and satisfied partnership, but it was a small effect.
In the 1990s, Swiss scientists wanted to see if body odor also had an effect on human attraction. In a famous experiment known as the "sweaty T-shirt study", they recruited 49 women to sniff sweaty, unwashed T-shirts from 44 men and put each in a box with a smelling hole and describe the odors of every shirt. The study found that women preferred the scents of T-shirts worn by men who were immunologically different from them compared to men whose HLA genes were similar to their own.
"The idea is, if you are very similar with your partner in HLA type then your offspring is similar in terms of HLA. This reduces your resistance against pathogens," says Illona Croy, a psychologist at the Technical University of Dresden who has studied HLA type in relation to sexual attraction in humans.
In a 2016 study Pheramor cites on its website, Croy and her colleagues tested the HLA types of 250 couples—all of them university students—and asked them how satisfied they were with their partnerships, with their sex lives, and with the odors of their partners. The couples who had more dissimilar HLA types reported a more satisfied sex life and satisfied partnership, but Croy cautions that it was a small effect. "It's not like they were super satisfied or not satisfied at all. It's a slight difference," she says.
Croy says we're much more likely to choose a partner based on appearance, sense of humor, intelligence and common interests.
Other studies have reported no preference for HLA difference in sexual attraction. Tristram Wyatt, a zoologist at the University of Oxford in the U.K. who studies animal pheromones, says it's been difficult to replicate the original T-shirt study. And one of the caveats of the original study is that women who were taking birth control pills preferred men who were more immunologically similar.
"Certainly, we learn to really like the smell of our partners," Wyatt says. "Whether it's the reason for choosing them in the first place, we really don't know."
Wyatt says he's skeptical of DNA-based dating apps because there are many subtypes of HLA genes, meaning there's a fairly low chance that your HLA type and your romantic partner's would be an exact match, anyway. It's why finding a suitable match for a bone marrow transplant is difficult; a donor's HLA type has to be the same as the recipient's.
"What it means is that since we're all different, it's hard statistically to say who the best match will be," he says.
DNA-based dating apps haven't yet gone mainstream, but some people seem willing to give them a try. Since Pheramor's launch a little over a year ago, about 10,000 people have signed up to use the app, about half of which have taken the DNA test, Barreto says. By comparison, an estimated 50 million people use Tinder, which has been around since 2012, and about 40 million people are on Bumble, which was released in 2014.
In April, Barreto launched a second service, this one for couples, called WeHaveChemistry.com. A $139 kit includes two genetic tests, one for you and your partner, and a detailed DNA report on your sexual compatibility.
Unlike the Phermor app, WeHaveChemistry doesn't provide users with a numeric combability score but instead makes personalized recommendations based on your genetic results. For instance, if the DNA test shows that your HLA genes are similar, Barreto says, "We might recommend pheromone colognes, working out together, or not showering before bed to get your juices running."
Despite her own research on HLA and sexual compatibility, Croy isn't sure how knowing HLA type will help couples. However, some researchers are doing studies on whether HLA types are related to certain cases of infertility, and this is where a genetic test might be very useful, says Croy.
"Otherwise, I think it doesn't matter whether we're HLA compatible or not," she says. "It might give you one possible explanation about why your sexual life isn't as satisfactory as it could be, but there are many other factors that play a role."