Glut-1: Zeesy’s Health Journey
Originally published on Clear as Mud on October 12, 2020
Zeesy, our beautiful daughter, was born on September 30th, 2010, and is our second child. We adopted her a few days after her birth in New Jersey. She is just thirteen months younger than her older sister, Chaya, whom we had adopted ten months earlier.
Life was busy with two babies, but having waited so long for children, we cherished every moment, even the sleepless nights.
One beautiful Sunday morning in the fall of 2011, shortly after her first birthday, Zeesy was sitting in her high chair while my husband, Chaim, fed her breakfast. She was her usual jolly self when, suddenly, her head dropped, and she appeared to have a seizure.
We rushed to the ER, arriving at our local hospital within six minutes. Testing began immediately, but despite all their efforts, the doctors couldn’t identify the cause of the seizure. They sent us home with parting words: “Sometimes kids have one seizure and never again.” Though skeptical, we returned home hoping for the best.
As time passed, it became evident that something wasn’t right. Zeesy was slow to reach her developmental milestones, including walking and talking. She also had intense crying episodes and meltdowns. While tantrums are normal for children, Zeesy’s would last for over an hour. She would black out, couldn’t hear us, was inconsolable, and her crying disrupted our entire household.
We live in Bozeman, Montana. Although it’s a wonderful place to raise a family, it’s a small town without a local pediatric neurologist. We traveled two hours to Billings, Montana's largest city, where a neurologist from Salt Lake City visited once a month to see patients.
The visiting doctor told us that Zeesy’s issues were behavioral, not neurological. We didn’t buy it. We knew something deeper was going on and were determined to find answers.
Through a friend, we learned about a pediatric neurology center outside of Philadelphia. In November 2014, I took Zeesy there for a comprehensive neurological workup. The doctor was amazing, and within two days, we finally had a clearer picture. Zeesy wasn’t sleeping; her brain was experiencing multiple seizures at night. Her brain was highly unstable, and those crying episodes were actually mini-seizures, severely affecting her development.
Returning to Bozeman, we felt validated and grateful for the clarity but also overwhelmed by what came next. We needed further genetic testing to identify the type of epilepsy she had. The more information we had, the better we could plan for her treatment.
Thank G-d we did! It turns out Zeesy has an extremely rare genetic disorder called Glut-1 Deficiency Syndrome.
So, what is Glut-1?
“Glut-1 Deficiency Syndrome is a genetic disorder that impairs brain metabolism. Glucose isn’t transported properly into the brain, leaving it starved for the energy it needs to grow and function. Glut-1 Deficiency causes a range of symptoms, including seizures, movement disorders, speech and language delays, and developmental delays. While there is no cure, the standard treatment is a ketogenic diet, which helps improve symptoms by giving the brain an alternative energy source and supporting brain development.”
Zeesy was already receiving speech therapy, occupational therapy, physical therapy, and medication for her seizures. Now, she needed to follow a specialized medical version of the ketogenic diet. How would we manage this? Could we provide all the medical care she needed while still supporting our other children? It took time to adjust, but we found our way.
What exactly is a ketogenic diet? It’s a high-fat, moderate-protein, very low-carb diet that forces the body to produce and burn ketones for energy instead of glucose. These ketones act as an alternative energy source, providing better nourishment for the brain.
In simple terms: it’s a pain in the you-know-what!
Zeesy can only eat meals that we carefully prepare and measure. The ingredients are highly limited. She can’t eat out at restaurants or at anyone’s home. When we travel, which we do often, we bring all her food with us. Chaim or I travel every few months to Children’s Hospital Colorado, where they monitor her closely.
The good news is that the diet is working! While Zeesy has lifelong challenges ahead, she is developing beautifully and catching up for all the years her brain lacked the energy it needed.
I’ve learned so much on this journey alongside Zeesy. In the beginning, it all felt overwhelming and insurmountable. But, by taking one step at a time, seeking help, and working as a team with Chaim, we’ve made it manageable. Now, it’s just part of our life. Every day brings new challenges with Glut-1 because the disorder is still so rare, and much remains unknown. So, we take a deep breath and ride the wave—and we definitely don’t let it stop us from having fun!