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.”
Podcast: The Science of Recharging Your Energy with Sara Mednick
If you’re like me, you may have a case of email apnea, where you stop taking restful breaths when you open a work email. Or maybe you’re in the habit of shining blue light into your eyes long after sunset through your phone. Many of us are doing all kinds of things throughout the day that put us in a constant state of fight or flight arousal, with long-term impacts on health, productivity and happiness.
My guest for today’s episode is Sara Mednick, author of The Power of the Downstate, a book about the science of relaxation – why it’s so important, the best ways to go about getting more of it, and the time of day when our bodies are biologically suited to enjoy it the most. As a cognitive neuroscientist at the University of California, Irvine, Mednick has a great scientific background on this topic. After getting her PhD at Harvard, she filled her sleep lab with 7 bedrooms, and this is where she is federally funded to study people sleeping around the clock, with her research published in top journals such as Nature Neuroscience. She received the Office Naval Research Young Investigator Award in 2015, and her previous book, Take a Nap! Change Your Life was based on her groundbreaking research on the benefits of napping.
In our conversation, we talk about how work and society make it tough to get stimulation like food and exercise in ways that support our circadian rhythms, and there just as many obstacles to getting sleep and restoration like our ancestors enjoyed for 99 percent of human history. Sara shares some fascinating ways to get around these challenges, as well as her insights about the importance of exposure to daylight and nature vs nurture when it comes to whether you’re a night owl or an early bird. And we talk about how things could change with work and lifestyles to make it easier to live in accordance with our biological rhythms.
Show notes
3:10 – The definition of “upstates” and “downstates”
5:50 – The power of 6 slow, deep breaths per minute to balance the nervous system
9:05 – Watching out for mouth breathing and email apnea
13:30 – Different ways of breathing for different goals
16:35 – Body rhythms – what is heart rate variability and why is it so important?
21:05 – Are you naturally a morning or night person? Nature vs nurture
27:10 – The perfect storm that gets in the way of following our circadian rhythms
29:15 – The evolution of our pre-bedtime downstates – why it's important to check in with your cave mates
30:10 – The culture shift needed for more people to follow their circadian rhythms and improve their health
35:10 – Employers and communities can build downstates into daily work and life
38:15 – Choosing how we react to the world
41:00 – Being smarter about peak performance
45:09 – The science of pacing yourself for long-term productivity
49:42 – The science of light exposure for circadian rhythms
52:20 – Where to learn more about Sara Mednick’s research and writing
Links:
Sara Mednick’s website https://www.saramednick.com/ and her Twitter
Mednick’s recent book - The Power of the Downstate
Mednick’s book on the benefits of napping - Take a Nap! Change Your Life
The blue light blocking glasses recommended in Mednick’s book https://www.amazon.com/dp/B019C3O2UE?psc=1&ref=ppx_yo2ov_dt_b_product_details
An app for measuring heart rate variability - Elite HRV app https://elitehrv.com/
Thorne take-home Melatonin test
Podcast: The Friday Five weekly roundup in health research
The Friday Five covers five stories in health research that you may have missed this week. There are plenty of controversies and troubling ethical issues in science – and we get into many of them in our online magazine – but this news roundup focuses on scientific creativity and progress to give you a therapeutic dose of inspiration headed into the weekend.
Covered in this week's Friday Five:
- Sex differences in cancer
- Promising research on a vaccine for Lyme disease
- Using a super material for brain-like devices
- Measuring your immunity to Covid
- Reducing dementia risk with leisure activities