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.”
Michio Kaku Talks Life on Mars, Genetic Engineering, and Immortality
Dr. Michio Kaku
Today is the release of THE FUTURE OF HUMANITY, the latest book by the world-renowned physicist Dr. Michio Kaku. In it, he explores the astonishing technologies that could propel us to live on other planets and even to live forever. LeapsMag Editor-in-Chief Kira Peikoff recently chatted with Dr. Kaku about some of the ethical implications we need to consider as we hurtle toward our destiny among the stars. Our interview has been edited and condensed for clarity.
"Technology is like a double-edged sword. The question is, who wields it?"
A big part of your book discusses living on Mars, and you mention that nanotech, biotech and AI could help us do so in the next 100 years. But you also note that efforts to make the Red Planet habitable could backfire, such as using genetic engineering to produce an ideal fertilizer, which could make one life form push out all the others. How should we judge when a powerful new technology is ready to be tested?
Technology is like a double-edged sword. One side can cut against ignorance, poverty, disease. But the other side can cut against people. The question is, who wields the sword? It has to be wielded by people's interests. We have to look not at the needs of the military or corporations, but society as a whole, and we have to realize that every technology, not just the ones I mentioned in the book, has a dark side as well as a positive side.
On the positive side, you could terraform Mars using genetic engineering to create algae, plants that could thrive in the Martian atmosphere, and a self-sustaining agriculture where we could raise food crops. However, it has to be done carefully, because we don't want to have it overrun Mars, just like we have certain plants that overrun the natural environment here on Earth. So we have to do it slowly. It cannot be done all of a sudden in a crash program. We have to see what happens if we begin to terraform stretches of Martian landscape.
Elon Musk of SpaceX, who has pioneered much of these technologies, has stated that we can jumpstart terraforming Mars by detonating hydrogen bombs over the polar ice caps. Later he had to qualify that by saying that they are airbursts, not ground bursts, to minimize radiation. Other people have said, we don't know what a nuclear weapon would do. Would it destabilize Mars? Would it open cracks in the ice caps? So we have to think things through, not just make proposals. Another proposal is to use silver mirrors in space to reflect sunlight down to melt the ice caps, and that would be more environmentally friendly than using hydrogen bombs.
"Our grandkids, when they hit the age of 30, they may just decide to stop aging, and live at age 30 for many decades to come."
As far as colonizing Mars, you also talk about technologies that could potentially help us end aging, but you note that this could exacerbate overpopulation and an exodus from Earth -- the double-edged sword again. What's your personal view on whether anti-aging research should be pursued?
Anti-aging research is accelerating because of the human genome. We're now able to map the genomes of old people, compare them with the genomes of young people, and we can see where aging takes place. For example, in a car, aging takes place in the engine, because that's where we have moving parts and combustion. Where do we find that in a cell? The mitochondria, and so we do see a concentration of error build-up in the mitochondria, and we can envision one day repairing the mistakes, which could in turn increase our life span. Also we're discovering new enzymes like telomerase which allow us to stop the clock. So it's conceivable, I think not for my generation, but for the coming generations, perhaps our grandkids, when they hit the age of 30, they may just decide to stop aging, and live at age 30 for many decades to come.
The other byproduct of this of course is overpopulation. That's a social problem, but realize in places like Japan, we have the opposite problem, under-population, because the birth rate has fallen way below the replacement level, people live too long, and there's very little immigration there. Europe is next. So we have this bizarre situation where some places like Sub-Saharan Africa are still expanding, but other places we're going to see a contraction. Overall, the population will continue to rise, but it's going to slow down. Instead of this exponential curve that many people see in the media, it's going to be shaped like an "S" that rises rapidly and then seals off. The UN is now beginning to entertain the possibility that the population of the Earth may seal off sometime by the end of the century--that we'll hit a steady state.
"In the future, that composite image may be holographic, with all your videotapes, your memories, to create a near approximation of who you are, and centuries from now, you may have digital immortality."
Later in the book, you talk about achieving immortality through storing your digital consciousness, uploading your brain to a computer. Many people today find that notion bizarre or even repulsive, but you also wisely note that "what seems unethical or even immoral today might be ordinary or mundane in the future." What do you think is the key to bridging the gap between controversial breakthroughs and public acceptance?
I imagine that if someone from the Middle Ages, who is fresh from burning witches and heretics and torturing non-believers, were to wind up today in our society, they might go crazy. They might think all of society is a product of the Devil, because attitudes toward morality change. So we humans today cannot dictate what morality will be like 100 years from now. For example, test tube babies. When Louise Brown (the first test tube baby) was first born, the Catholic Church denounced it. Now, today, your wife, husband, you may be a test tube baby and we don't even blink.
There's a Silicon Valley company today that will take what is known about you on the Internet, your credit card transactions, your emails, and create a composite image of you. In the future, that composite image may be holographic, with all your videotapes, your memories, to create a near approximation of who you are, and centuries from now, you may have digital immortality—your memories, your sensations, will be recorded accurately, and an avatar will recreate it. Like for example, I wouldn't mind talking to Einstein. I wouldn't mind sitting down with the guy and having a great conversation about the universe.
And the Connectome Project, by the end of the century, will map the entire brain--that's every neuron--just like the genome project has mapped every gene. And we live with it, we don't even think twice about the fact that our genome exists. In the future, our connectome will also exist. And the connectome can reproduce your thoughts, your dreams, your sensations. We'll just live with that fact; it will be considered ordinary.
"A hundred years from now, we may want to merge with some of these technologies, rather than have to compete with robots."
Wow. In such a "post-human" era, our bodies could be replaced by robots or maintained by genetic engineering. Once these technologies become commercially available, do you think people should have the freedom to make changes or enhancements to themselves?
I think there should be laws passed at a certain point to prevent parents from going crazy trying to genetically engineer their child. Once we isolate the genes for studying, for good behavior, things like that, we may be tempted to tinker with it. I think a certain amount of tinkering is fine, but we don't want to let it get out of control. There has to be limits.
Also, we are in competition with robots of the future. A hundred years from now, robots are going to become very intelligent. Some people think they're going to take over. My attitude is that a hundred years from now, we may want to merge with some of these technologies, rather than have to compete with robots. But we're not going to look like some freaky robot because we're genetically hardwired to look good to the opposite sex, to look good to our peers. Hundreds of thousands of years ago, and hundreds of thousands of years into the future, we'll still look the same. We'll genetically modify ourselves a little bit, but we'll basically look the same.
That's an interesting point. It's amazing how fast technology is moving overall. Like at one point in the book, you mention that primates had never been cloned, but a few weeks ago, news broke that this just happened in China. Do you think we should slow down the dramatic pace of acceleration and focus on the ethical considerations, or should we still move full-steam ahead?
Well, CRISPR technology has accelerated us more than we previously thought. In the past, to tinker with genes, you had to cut and splice, and it was a lot of guesswork and trial and error. Now, you can zero in on the cutting process and streamline it, so cutting and splicing genes becomes much more accurate, and you can edit them just like you edit a book. Within the field of bioengineering, they have set up their own conferences to begin to police themselves into figuring out which domains are ethically dangerous and which areas can provide benefits for humanity, because they realize that this technology can go a little bit too fast.
"Where does truth come from? Truth comes from interaction with incorrect ideas."
You cannot recall a life form. Once a life form is created, it reproduces. That's what life does. If it reproduces outside the laboratory, it could take over. So we want to make sure that we don't have to recall a life form, like you would recall a Ford or a Chevrolet. Eventually governments may have to slow down the pace because it's moving very rapidly.
Lastly, you talk about the importance of democratic debate to resolve how controversial technology should be used. How can science-minded people bring the rest of society into these conversations, so that as much of society as possible is represented?
It's a question of where does truth come from? Truth comes from interaction with incorrect ideas--the collision of truth and untruth, rumors and fact. It doesn't come from a machine where you put in a quarter, and out comes the answer. It requires democratic debate. And that's where the Internet comes in, that's where the media comes in, that's where this interview comes in. You want to stimulate and educate the people so they know the dangers and promises of technology, and then engage with them about the moral implications, because these things are going to affect every aspect of our life in the future.
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.
Society Needs Regulations to Prevent Research Abuses
A tension exists between scientists/doctors and government regulators.
[Editor's Note: Our Big Moral Question this month is, "Do government regulations help or hurt the goal of responsible and timely scientific innovation?"]
Government regulations help more than hurt the goal of responsible and timely scientific innovation. Opponents might argue that without regulations, researchers would be free to do whatever they want. But without ethics and regulations, scientists have performed horrific experiments. In Nazi concentration camps, for instance, doctors forced prisoners to stay in the snow to see how long it took for these inmates to freeze to death. These researchers also removed prisoner's limbs in order to try to develop innovations to reconnect these body parts, but all the experiments failed.
Researchers in not only industry, but also academia have violated research participants' rights.
Due to these atrocities, after the war, the Nuremberg Tribunal established the first ethical guidelines for research, mandating that all study participants provide informed consent. Yet many researchers, including those in leading U.S. academic institutions and government agencies, failed to follow these dictates. The U.S. government, for instance, secretly infected Guatemalan men with syphilis in order to study the disease and experimented on soldiers, exposing them without consent to biological and chemical warfare agents. In the 1960s, researchers at New York's Willowbrook State School purposefully fed intellectually disabled children infected stool extracts with hepatitis to study the disease. In 1966, in the New England Journal of Medicine, Henry Beecher, a Harvard anesthesiologist, described 22 cases of unethical research published in the nation's leading medical journals, but were mostly conducted without informed consent, and at times harmed participants without offering them any benefit.
Despite heightened awareness and enhanced guidelines, abuses continued. Until a 1974 journalistic exposé, the U.S. government continued to fund the now-notorious Tuskegee syphilis study of infected poor African-American men in rural Alabama, refusing to offer these men penicillin when it became available as effective treatment for the disease.
In response, in 1974 Congress passed the National Research Act, establishing research ethics committees or Institutional Review Boards (IRBs), to guide scientists, allowing them to innovate while protecting study participants' rights. Routinely, IRBs now detect and prevent unethical studies from starting.
Still, even with these regulations, researchers have at times conducted unethical investigations. In 1999 at the Los Angeles Veterans Affairs Hospital, for example, a patient twice refused to participate in a study that would prolong his surgery. The researcher nonetheless proceeded to experiment on him anyway, using an electrical probe in the patient's heart to collect data.
Part of the problem and consequent need for regulations is that researchers have conflicts of interest and often do not recognize ethical challenges their research may pose.
Pharmaceutical company scandals, involving Avandia, and Neurontin and other drugs, raise added concerns. In marketing Vioxx, OxyContin, and tobacco, corporations have hidden findings that might undercut sales.
Regulations become increasingly critical as drug companies and the NIH conduct increasing amounts of research in the developing world. In 1996, Pfizer conducted a study of bacterial meningitis in Nigeria in which 11 children died. The families thus sued. Pfizer produced a Nigerian IRB approval letter, but the letter turned out to have been forged. No Nigerian IRB had ever approved the study. Fourteen years later, Wikileaks revealed that Pfizer had hired detectives to find evidence of corruption against the Nigerian Attorney General, to compel him to drop the lawsuit.
Researchers in not only industry, but also academia have violated research participants' rights. Arizona State University scientists wanted to investigate the genes of a Native American group, the Havasupai, who were concerned about their high rates of diabetes. The investigators also wanted to study the group's rates of schizophrenia, but feared that the tribe would oppose the study, given the stigma. Hence, these researchers decided to mislead the tribe, stating that the study was only about diabetes. The university's research ethics committee knew the scientists' plan to study schizophrenia, but approved the study, including the consent form, which did not mention any psychiatric diagnoses. The Havasupai gave blood samples, but later learned that the researchers published articles about the tribe's schizophrenia and alcoholism, and genetic origins in Asia (while the Havasupai believed they originated in the Grand Canyon, where they now lived, and which they thus argued they owned). A 2010 legal settlement required that the university return the blood samples to the tribe, which then destroyed them. Had the researchers instead worked with the tribe more respectfully, they could have advanced science in many ways.
Part of the problem and consequent need for regulations is that researchers have conflicts of interest and often do not recognize ethical challenges their research may pose.
Such violations threaten to lower public trust in science, particularly among vulnerable groups that have historically been systemically mistreated, diminishing public and government support for research and for the National Institutes of Health, National Science Foundation and Centers for Disease Control, all of which conduct large numbers of studies.
Research that has failed to follow ethics has in fact impeded innovation.
In popular culture, myths of immoral science and technology--from Frankenstein to Big Brother and Dr. Strangelove--loom.
Admittedly, regulations involve inherent tradeoffs. Following certain rules can take time and effort. Certain regulations may in fact limit research that might potentially advance knowledge, but be grossly unethical. For instance, if our society's sole goal was to have scientists innovate as much as possible, we might let them stick needles into healthy people's brains to remove cells in return for cash that many vulnerable poor people might find desirable. But these studies would clearly pose major ethical problems.
Research that has failed to follow ethics has in fact impeded innovation. In 1999, the death of a young man, Jesse Gelsinger, in a gene therapy experiment in which the investigator was subsequently found to have major conflicts of interest, delayed innovations in the field of gene therapy research for years.
Without regulations, companies might market products that prove dangerous, leading to massive lawsuits that could also ultimately stifle further innovation within an industry.
The key question is not whether regulations help or hurt science alone, but whether they help or hurt science that is both "responsible and innovative."
We don't want "over-regulation." Rather, the right amount of regulations is needed – neither too much nor too little. Hence, policy makers in this area have developed regulations in fair and transparent ways and have also been working to reduce the burden on researchers – for instance, by allowing single IRBs to review multi-site studies, rather than having multiple IRBs do so, which can create obstacles.
In sum, society requires a proper balance of regulations to ensure ethical research, avoid abuses, and ultimately aid us all by promoting responsible innovation.
[Ed. Note: Check out the opposite viewpoint here, and follow LeapsMag on social media to share your perspective.]