When doctors couldn’t stop her daughter’s seizures, this mom earned a PhD and found a treatment herself.
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.”
A ‘Press Release from the Future’ Announces Service for Parents to Genetically Engineer Their Kids
Most people don't recognize how significantly and soon the genetic revolution will transform healthcare, the way we make babies, and the nature of the babies we make. The press release below is a thought experiment today. Within a decade, it won't be. * * *
Genomix Launches uDarwin, a New Business to Help Parents Optimize the Health, Well-Being, and Beneficial Traits of their Future Offspring
NEW YORK, July 29, 2029 /PRMediawire/ -- Genomix, a Caribbean-based health and wellness company, today announced the launch of uDarwin, a discrete, confidential service helping parents select and edit the pre-implanted embryos of their future children.
"Our mission is to help prospective parents realize their dream of parenthood in the safest manner possible while helping them optimize their future children's potential."
"We often fetishize nature," said Genomix Medical Director and Co-Founder Dr. Noam Heller, "but the traditional process of conception through sex confers risks on future children that can be significantly reduced through the careful and safe application of powerful new technologies."
Approximately three percent of all children are born with some type of harmful genetic mutation. Through its patented process of extracting eggs from the prospective mother, fertilizing these eggs with sperm from the intended father or from one of the superstar donor samples in the proprietary uDarwin gene bank, and screening up to twenty of these embryos prior to implantation, this risk can be brought down to under one percent.
"Having a baby is the most intimate and important experience in most people's lives," said Genomix CEO and co-founder Rich Azadian. "Our mission is to help prospective parents realize their dream of parenthood in the safest manner possible while helping them optimize their future children's potential."
In addition to screening pre-implanted embryos to significantly reduce disease risk, uDarwin uses its proprietary algorithm for the "polygenic scoring" of embryos to directionally predict potential future attributes including healthspan, height, IQ, personality style, and other complex genetic traits. Attributes once accepted as being the result of fate or chance can now increasingly be selected by parents from among their own natural embryos using this entirely safe process.
A premium product offering, uDarwin+, provides parents the opportunity to make up to three single gene mutations to their selected embryo to reduce a risk or confer a particular benefit. Among the most popular options for this service include increased resistance to HIV and other viruses, a greater ability to build muscle mass, and enhanced cognition. Additional edits will be made available as the science of human genome editing further advances.
Jamie Metzl's new book, Hacking Darwin: Genetic Engineering and the Future of Humanity, explores how the genetic revolution is transforming our healthcare, the way we make babies, and the nature of and babies we make, what this means for each of us, and what we must all do now to prepare for what's coming.
"uDarwin is proud to be the first company in the world offering the highest level of reproductive choice to parents," Mr. Azadian continued. "Genetic technologies are allowing us for the first time to crack the code of our health and identity. As pioneers in applying the most advanced genetic technologies to human reproduction, we recognize that prospective parents' desire for the services we offer exceeds societal levels of comfort with this technology. Our highest levels of customer service, comfort, and confidentiality ensure parents can secure massive benefits for their future children while avoiding unnecessary attention or any compromise of privacy."
All uDarwin services will be carried out in the company's state-of-the-art clinic aboard a super-luxury 500-foot yacht operating in international waters. After applying on the secure uDarwin website and gaining approval, clients are provided a date, time, and location to meet a company representative at a conveniently located Caribbean marina from where they will be shuttled to the uDarwin clinic. "Pioneers have always traveled beyond boundaries to create new possibilities," Mr. Azadian added. "Conceiving a child in a location where it can receive the greatest benefits of advanced science is no different."
"Pioneers have always traveled beyond boundaries to create new possibilities."
The cost of the basic uDawin service is $5 million, with half paid up front and half paid following the successful birth of a baby. Charges for uDarwin+, premium sperm or egg donors, surrogates, and other services are additional. "uDarwin is not for everyone," Mr. Azadian said, "but most parents of significant means understand that the benefits of optimal genetics far exceed almost any monetary cost."
"The genetic revolution has already begun," Medical Director Heller added. "The question for prospective parents is whether they want to be the last parents who left the health and identity of their future children to chance or the first to give their future children the greatest chance of optimal health and maximal fulfillment in the new reality that will arrive far sooner than most people appreciate."
If you could genetically alter your future children, would you? https://t.co/N0tqwX4Qd3— leapsmag (@leapsmag) 1564426548.0
30 Million People Are Uninsured. New Startup Wants to Connect Them Directly to Doctors.
When Eli Hall was in his thirties, he had a kidney stone that needed surgery. Despite having medical insurance, his out-of-pocket costs for the procedure came to $4,000.
Mira promises that most routine visits will cost around $99 or slightly above.
Hall, an Arizona-based small business owner soon discovered that such costs were proving to be the norm. As a result, he stopped buying insurance altogether. Now he pays in to a subscription-based model of healthcare where $300 per month will get him, his wife, and two children unlimited access (either over the phone or through in-office visits) to doctors in the Redirect Health network. This subscription also meets the Affordable Care Act insurance mandate.
Hall's move away from the traditional insurance care model might have been deliberate, but not everyone is as lucky. In 2018, the Centers for Disease Control and Prevention reported that 30.1 million people under the age of 65 were uninsured in the United States. Now, a new startup called TalktoMira is helping those without insurance access doctors for routine visits — affordably.
The service, accessed through the website (or phone or text), evaluates a user's symptoms and returns recommendations for specific doctors that factor in wait times, traffic conditions, and pricing. Khang T. Vuong, the founder and CEO, expects that doctors will be willing to provide discounts through this model, as they're eliminating the administrative costs associated with the insurance middleman. Some discounts can be as high as 50 percent, according to the website.
Mira promises that most routine visits will cost around $99 or slightly above. "This provides people who can't afford paying $3,000 to $4,000 per year in insurance premiums an alternative to access basic healthcare," Vuong says.
As of press time, Mira is available in the Washington D.C., Northern Virginia, and Dallas, and will soon expand across the country via a partnership with a national network of healthcare providers.
"For those who live in places where we don't have a presence, users can still search for the nearest and least busy urgent cares. The goal is to build a national database of walk-in clinics with straightforward upfront pricing so the 30 million uninsured and 56 million underinsured have access to same or next day primary care at an upfront affordable cost," Vuong says.
Getting Around Traditional Insurance
Mira caters to the uninsured by helping them navigate the healthcare system the moment they need it. "Currently cash patients have to rely mainly on Google for searching for options," Vuong says, adding that patients do also occasionally work with the app ZocDoc for booking. "However [ZocDoc] info has no pricing information; we fill in that much-needed gap," Vuong says. In focus groups TalktoMira conducted, a majority (70 percent) reported cost of service as their main barrier to healthcare.
As Hall's subscription-based model proves, cash-driven access like TalktoMira is not the only option for the uninsured. Direct primary care like the kind that Redirect Health delivers is another way to get around high premiums. It does so by effectively eliminating the administrative costs associated with the middleman, says David Slepak, the director of business development at Redirect. Doctors who are tired of packed schedules and the administrative headaches involved with the insurance model are only too happy to be a part of subscription or cash-based models, explains Vuong.
But TalktoMira and direct primary care models don't resolve the challenges of insurance related to catastrophic events.
James Corbett, Principal at Initium Health, points out the uninsured can also access federally qualified health centers across the country or a free clinic, but these might have problems of long wait times.
"Not a Cure-All"
TalktoMira might not provide the same level of consistency that seeing a primary care doctor does, though Vuong says there are ways to see the same doctor again by choosing them through the system. He adds that TalkToMira also empowers patients by asking them about their satisfaction after the visit and to see if any further checkups might be warranted, thus enabling patients to rate their doctors just like they would any other service provider.
"I might not have one primary care doctor, but I have the entire system behind me," says Hall.
But TalktoMira and direct primary care models don't resolve the challenges of insurance related to catastrophic events. The subscription model won't kick in if the patient has a heart attack and needs to be hospitalized, for example. So patients are also encouraged to purchase a high-deductible, low-premium plan for such contingencies.
"We're spending so much on insurance for the car that we can't afford the gas to drive the car."
Vuong recognizes TalktoMira doesn't solve all the problems related to insurance, but it can at least start by helping to facilitate access to routine visits. Even the insured don't always seek out a doctor because of copays and high deductibles, Slepak says. "We're spending so much on insurance for the car that we can't afford the gas to drive the car," he says.
TalktoMira is hoping that by making routine care accessible, it might both lessen the crunch in emergency rooms where many people don't really belong, and also nip problems in the bud.
"It's not a cure-all, not a panacea," admits Vuong. "It won't get you a knee replacement. But at least I can get you in the system so you might not have to get to that point."