Clear As Mud
 

Glut-1

Zeesy’s Health journey 

Zeesy, our beautiful daughter, was born on September 30th, 2010 and is our second child. We adopted her a few days after birth in her state of birth, New Jersey. She is just thirteen months younger than her older sister Chaya, our Russian baby, who we adopted only ten months earlier.  

Life was real busy juggling two babies 🙂 but having waited for so long for children, we were loving, and embracing, every moment, even the sleepless nights. 

One beautiful Sunday morning, in the fall of 2011, shortly after Zeesy’s first birthday, Zeesy was sitting in her highchair, while Chaim (my husband) was feeding her breakfast. She was her usual jolly self, when suddenly her head dropped, and she started experiencing what seemed like a seizure. 

We rushed to the ER and arrived at our local hospital within six minutes of the seizure. The testing started and the process of trying to figure out what was going on was underway. From all the tests they did, we got very little information and the doctors couldn’t establish any concrete reason for her seizure. They sent us home with the parting words “sometimes kids get a seizure once, and never again” There was nothing really left to do, so although skeptical, we went home hoping for the best.

Time passed and it was evident to me and Chaim that something wasn’t right. Zeesy was slow reaching her expected milestones, including walking and talking. She also would have these insane crying episodes/meltdowns. Yes, all kids have tantrums but Zeesy’s would last at least an hour, she would black out, couldn’t hear us, wasn’t consolable and her crying would disrupt our entire household.

We live in Bozeman, Montana. Although, it’s a wonderful place to live and raise a family, it’s a small town and we don’t have a local pediatric neurologist. We traveled to Billings (Montana’s largest city) which is two hours away, which didn’t either have a full-time pediatric neurologist, but at least they had one that came from Salt Lake City once a month to see local patients. The visiting Dr. told us that everything Zeesy was experiencing was behavioral and not neurological. We didn’t buy it! We knew this wasn’t behavioral, something wasn’t right, and we were determined to figure it out. 

Through a friend of mine we found out about a pediatric neurology center outside of Philadelphia. In November of 2014 I took Zeesy to get a comprehensive neurological workup near Cherry Hill, New Jersey. The Doctor was amazing and in two short days we were able to get a clearer picture of what was going on. Zeesy wasn’t sleeping (although it looked like she was) and her brain was having multiple seizures at night. Her brain was very unstable, and all those crying episodes she was having were mini seizures that were absolutely impacting her development.

We headed back to Bozeman feeling so validated and grateful for some clarity but also completely overwhelmed by what comes next.  We needed to do some further genetic testing to see if we can get any more info on what type of epilepsy we are talking about. The more information we have, the better and more informed decisions we can make regarding treatment.

Thank G-d we did! Turns out that Zeesy has an extremely rare genetic disorder called Glut-1 Deficiency Syndrome.

So what is Glut-1?

“Glut 1 Syndrome is a genetic disorder that impairs brain metabolism. Glucose isn’t transported properly into the brain, leaving it starving for the energy it needs to grow and function. Glut1 Deficiency causes an array of symptoms…Some signs and symptoms may include

seizures, movement disorders, speech and language disorders, and developmental delays.

There is no cure for Glut1 Deficiency.  The current standard of care treatment is a ketogenic diet, which helps improve most symptoms for most patients by giving the brain an alternate source of energy and helps optimize brain growth and development.”

Zeesy was already doing speech therapy, occupational therapy, physical therapy, was on meds for her seizures. Now she needs to go on this special medical version of the Ketogenic diet. How do we even go about this? Do we have what it takes to provide all the special medical care that she needs and still give our other children what they need?! It took time to process and get used to, but we got there 🙂

What exactly is a Ketogenic diet?

It’s a high fat, moderate protein and really-low-carb diet, which allows the body to produce and burn ketones for fuel in the absence of glucose. These Ketones act as an alternative energy source and help supply better nourishment for the brain.

In simple English: it’s a pain in the you know what!

Zeesy can only eat meals that we prepare and measure for her. The ingredients are very limited. She can’t ever eat out at a restaurant or in anybody’s home. And when we travel (which we do a lot) we have to take all her food along.  Chaim or I travel every couple of months to Colorado’s children hospital where they monitor her closely. 

The good news is, is that the diet is working well! And while Zeesy has a lifelong of challenges ahead of her, she is developing beautifully as she plays catchup for all the years her brain wasn’t getting the energy it needed.

I have learned so much from being on this journey alongside Zeesy. 

In the beginning it all seemed so overwhelming and insurmountable. Taking one step at a time, getting help and working as a team with my husband, has made the process doable: now, it’s just part of our life. Every day brings new challenges with Gut-1, because it’s still so rare and not much is known about it. So, we take a deep breath and ride the wave 🙂 and we definitely don’t let it hold us back from having fun!