Written by Melissa E. Daley, CISCRP
“The best way to describe Savannah is that she lives in the now. She doesn’t really fret about the future, and she doesn’t dwell on the past. But she does have memories that come up from time to time. You can pull out pictures and she can remember those times and what was happening,” says Dr. Tracy Dixon Salazar, of her daughter, Savannah. “She recalls having to wear a helmet in school all the time and having a seizure response dog. I don’t think she globally understands the journey she’s been on.” Now in her late twenties, at age five Savannah was diagnosed with Lennox-Gastaut syndrome (LGS), a development brain disorder that frequently evolves from early-life-onset epilepsy and usually emerges between ages of three to five years old. (1) Tracy’s role in Savannah’s life is a triumvirate of mother, patient advocate and scientific researcher.
“Savannah started having seizures out of the blue and nobody could tell us why,” says Tracy. When Tracy and her husband, Ruben, sought treatment for Savannah, they were told that knowing the origin of the seizures was not necessary to stop them. However, none of the prescribed medications worked. They were advised that Savannah’s seizures would not damage her brain. “I would see the seizures taking a huge toll on her cognitive ability and her ability to learn. We were told that you can’t die from seizures, and yet we had to resuscitate Savannah a number of times,” says Tracy.
Tracy decided to address the disconnect between how medical professionals were assessing her daughter’s illness and Savannah’s lived experience by enrolling in college, ultimately attaining her PhD in Neurobiology and Neurosciences. It took twelve years, with Tracy and Ruben tag-teaming work, school, child care and health care responsibilities. Despite the grueling demands, Tracy was determined. “I wanted to understand what could cause early life seizures,” says Tracy. “What was this LGS and where did it come from?”
LGS patients can have hundreds of seizures a day that dramatically impact their physical and cognitive development. “You never knew what you were going to get,” says Tracy. “It could be a five-seizure day, or it could be a 500-seizure day.”
Tracy describes a 500-seizure day as “…absolute chaos. You’re not going anywhere. They’re not going anywhere. You’re probably not going to make it to work. She’s not going to make it to school. You’re on watch to make sure that these seizures stop on their own. You have to be counting them,” says Tracy. A cluster of seizures together over a prolonged period of time can cause brain damage. A single cluster that does not end on its own (called status epilepticus) can also become a fatal emergency.
Savannah, Tracy and friend.
“At its worst, Savannah was going into cluster seizures or status epilepticus, two to four times a week.” Tracy or Ruben had to prevent Savannah from injuring herself during a seizure, administer rescue medications, and attend to Savannah’s post-episode physical needs, which may include caring for uncontrollable bouts of urination, defecation and vomiting.
Seizures are brutal. Over the years, Savannah has endured a fractured skull, broken teeth, broken arms, injury to her eye and a severed nose bridge. With her parents searching for a way to provide relief and healing, Savannah tried 26 different treatments between the ages of two and eighteen, including medications, diets, devices and alternative therapies. Some of these were through participation in clinical trials. None of them worked.
As a post-doctoral candidate, Tracy worked in a lab, sequencing exomes, the coding part of the genome that contains information for protein synthesis (2), in children with pediatric brain disease and epilepsy. “For me, science was going to be the thing that answered these questions,” says Tracy.
Savannah was a participant in clinical research conducted by Tracy and her colleagues on the research team. In addition to sequencing Savannah’s genes, they also sequenced Tracy’s and her husband’s, as part of Tracy’s research for a precision or genomic therapy to treat LGS.
“When we sequenced Savannah’s exome, we found a group of calcium channel genes, that were telling us that she had too much calcium going into her brain cells, so we started to look at existing medications that targeted calcium channels,” says Tracy. They found medications targeting calcium that were used for high blood pressure and arrythmias, not epilepsy. After a risk/benefit analysis of the data and in coordination with Savannah’s physician, Savannah began treatment with a calcium blocking drug. Her seizure numbers dropped by 95% and her episodes of non-stop seizures completely stopped. (3)
“Unfortunately, we didn’t find it until she was 18 years old, so a lot of brain damage had already happened. But she really turned a corner after that,” says Tracy. Savannah was able to safely discontinue a number of medications she had been taking. “She started talking. She could walk. Savannah is funny and sassy. I feel like I got to meet her again when she was 18 years old.”
While the outcome of the research was positive, Tracy faced internal challenges about her role as a parent and a researcher during the process. “It was difficult for me as a mother and a scientist, because all of my training had said ‘you can’t objectively study your own disease or a disease that your loved one has’. Yet if you go into scientific literature, there are TONS of people who have studied their own disease or a disease of a loved one,” says Tracy. “It’s made them a better scientist, in many ways. But there’s so much more at stake if I get it wrong, with my own child. I was so conflicted during this time.”
Participation in clinical research has been a big part of their lives, even before Savannah’s participation in the study conducted by her mother and the team. “It was always important for us to be part of research studies, to be a part of clinical trials, to be thinking about not only how we are going to help ourselves, but how we are going to help the next generation as well,” says Tracy. “LGS is a rare disease, but we have a community of six thousand (active in the LGS Foundation). There is a predicted forty-eight thousand thousand people with LGS in the United States and a predicted million people worldwide.”
Tracy shares there are several things to consider before participating in clinical research. “Being in a clinical trial is not without risk – but so is not being in a clinical trial. If you have exhausted every anti-seizure medication and there is an open clinical trial, and you choose not to be in that, there will be consequences for that as well. As a parent, you just make the best possible decision that you can make. There is risk on both sides. Become as informed as you possibly can to make that decision.”
Tracy is committed to providing information and resources to the LGS community by serving as Executive Director of the LGS Foundation, founded in 2008 by Christina Sanlnocencio, whose brother Michael was an adult living with LGS. Tracy says “Advocacy organizations like the LGS Foundation, or wherever your community is, are there for you so you don’t have to walk this alone. Talk with them. They have a lot of great information to share on how to navigate and understand clinical trials. How to think about the pros and cons of participating in clinical research. Find somebody who has walked there before you and hear their story. It can help you make decisions about whether or not you or your loved one should go into a clinical trial, or how you are going to support your loved one who is in a clinical trial.”
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