Mother’s Love Led to Life-Altering Therapy for Daughter’s Seizures

Tracy Dixon-Salazar’s daughter, Savannah, developed Lennox-Gastaut syndrome (LGS) at 5 years outdated after experiencing uncontrollable seizures since she was two.

Tracy pursued a Ph.D. after realizing she wanted to search out info on her personal to higher perceive her daughter’s situation.

At age 2, Tracy’s daughter, Savannah, had a daunting expertise the place she appeared to be choking. The household referred to as 911 out of worry, and paramedics later clarified that Savannah had suffered a seizure.

“Each my husband and I went on the identical time, ‘What’s a seizure,’” Tracy, 52, from San Diego. “We really went six months, and she or he didn’t have any, after which on the age of three, they got here again onerous and quick. She began having a whole lot of seizures a day.”

At first, medical doctors averted calling Savannah’s episodes seizures, utilizing phrases like “episodes” or “spells.”

Tracy ultimately came upon Savannah had epilepsy, however medical doctors had been reluctant to diagnose her on account of worry of stigma.

Pissed off by Savannah’s intense seizures, Tracy pursued a Ph.D. This led her to find a mechanism behind Savannah’s seizures, who’s now 30.

Tracy’s analysis additionally helped discover a therapy that has lessened the frequency of Savannah’s seizures.

Tracy mentioned she wished to know her little one’s situation however didn’t anticipate with the ability to assist.

She was stunned by her eventual capacity to make a distinction.

At age 3, Savannah started experiencing frequent and steady seizures.

Regardless of looking for assist from a number of medical doctors, Tracy and her husband encountered unclear diagnoses. They may not discover the reason for the seizures regardless of in depth testing.

There was no household historical past or traumatic harm to clarify them.

They solely realized about Savannah’s epilepsy by studying her medical chart, as nobody had knowledgeable them.

Decided to search out solutions, Tracy requested her daughter’s medical information as a mom on a mission.

At 5, Savannah was identified with Lennox-Gastaut syndrome after experiencing seizures for nearly two years. LGS includes frequent seizures and developmental delays.

Tracy explains that LGS will not be inborn and develops over time when the mind is bombarded by seizures. This results in irregular wiring because the mind tries to arrange itself, particularly throughout early improvement.

The LGS Basis outlines 4 key traits of Lennox-Gastaut syndrome:

• Early childhood seizures
• Therapy-resistant seizures and a couple of sort of seizure
• EEG check outcomes that present irregular brainwaves
• Mental disabilities or developmental delays

Savannah’s household felt misplaced concerning her well being and had been deeply overwhelmed at the moment.

Whereas the diagnoses gave Tracy a reputation for Savannah’s situation, the Lennox-Gastaut syndrome, the knowledge they acquired didn’t fairly match their experiences with Savannah’s life.

“The messaging (within the Nineteen Nineties) was ‘You’ll be able to stay a full life with epilepsy,’” Tracy remembers.

Nonetheless, this didn’t match their expertise at residence.

Savannah’s improvement stopped, requiring frequent hospitalizations and even resuscitation, she added.

Realizing the dearth of solutions, Tracy noticed the significance of changing into an knowledgeable in her daughter’s well being.

She described the illness as intrusive, sudden, and consuming, emphasizing the motivation that comes from straight experiencing its influence, particularly when it impacts somebody as treasured as your personal little one.

Over time, Savannah’s seizures decreased, but she nonetheless confronted a whole lot month-to-month, accumulating an estimated 40,000 seizures.

Her improvement stalled by age 3, stopping her from buying primary abilities like toilet use or studying, and she or he remained at a toddler’s psychological degree regardless of getting older.

At instances, Savannah skilled seizures that persevered, necessitating emergency motion, both by means of hospital visits or administering rescue drugs.

Initially, these drugs got rectally, however now choices embrace nasal sprays and dissolvable capsules, as per the Epilepsy Basis.

With that being mentioned, Tracy determined to return to highschool after beforehand serving within the navy.

Initially enrolling in school for English courses to higher perceive scientific literature, she later shifted to science programs and located a ardour for the topic.

“I used to be simply attempting to know how this child, this wholesome 2-year-old, might go from being completely regular to having seizures and her life derailed. And studying these (medical research) drove me to school,” she says. “I wanted an outlet for the ache.”

Over 12 years, Tracy pursued her training diligently, acquiring affiliate, bachelor’s, and grasp’s levels earlier than incomes a Ph.D. in neurobiology, adopted by a three-year post-doctoral program.

Finding out offered her with a way of goal throughout a difficult interval.

Feeling powerless to assist her daughter, Tracy turned to training as a method to contribute.

Regardless of medical doctors’ incapacity to pinpoint the reason for Savannah’s epilepsy, Tracy discovered their dismissal of understanding its origins troubling.

This led her to delve into genetics, ultimately becoming a member of a lab centered on epilepsy genetics.

By means of genetic analyses, she sought to uncover insights into her daughter’s situation, the Lennox-Gastaut syndrome, even analyzing Savannah’s genome herself.

“Savannah didn’t have inherited epilepsy,” Tracy explains. I sequenced her, did all this evaluation, and was capable of present she’s obtained calcium channel mutations.”

These mutations brought about extreme calcium move by means of sure pathways, sparking Savannah’s seizures.

Tracy discovered this fascinating, particularly for the reason that household had witnessed calcium’s results on Savannah with out understanding the hyperlink.

Regardless of medical doctors recommending calcium dietary supplements to counteract medication-induced calcium depletion, Savannah’s epilepsy worsened with every try.

“We tried (calcium) three totally different instances, and she or he at all times had extra seizures,” she says. “I’m like, ‘There’s one thing to this.’”

After Tracy shared her findings with Savannah’s medical doctors, regardless of their lack of familiarity with the genetic side, they agreed to prescribe a calcium blocker usually used for hypertension and arrhythmias.

“There’s really a drug that blocks these actual calcium channels,” she explains.

Tracy observed a major change in her daughter’s situation shortly after beginning the brand new medicine.

Inside two weeks of starting the brand new medicine, Tracy remembers Savannah’s seizures lowering drastically from 300 a month to only some occurrences per week, leading to a exceptional 95% discount.

This enchancment has persevered for 11 years, which Tracy finds exceptional.

Savannah is doing significantly better since beginning the medication. Initially, her conduct was like that of a 3-year-old on account of mind injury.

However now, Tracy fortunately notes, there’s been vital enchancment in her character, speech, mobility, and potty coaching.

Tracy, who leads the LGS Basis, brazenly discusses the struggles of caring for these with Lennox-Gastaut syndrome.

A survey by UCB revealed that solely 22% of caregivers within the uncommon epilepsy neighborhood really feel adequately supported for long-term planning.

Tracy discovered solace in her household’s assist and wished the identical for others.

Lately, she and Savannah had a touching second whereas selecting a gown collectively.

Savannah, now keen on boys and social media singers, enjoys puzzles however can not work on account of her incapacity to learn or write.

Nonetheless, Tracy worries about Savannah’s trusting nature, which makes her weak.

Regardless of efforts, they’ve confronted rejection to find a spot for Savannah on account of her seizures and mental incapacity.

Whereas disheartening, Tracy’s willpower to advocate for her daughter stays robust.

“All the pieces’s onerous. I can’t even go to the neurology workplace with this child. I spend numerous time preventing with insurance coverage firms,” she says.

But, Tracy is decided to enhance the world by means of advocacy.

She believes it’s essential for her daughter and others with comparable challenges to have a spot in society, and she or he’s dedicated to spreading that message.

Watch Tracy’s journey to know Savannah’s uncommon illness, Lennox-Gastaut syndrome: