Embracing Life with a Rare Genetic Disorder

Growing up, I always knew that being “different” was never something to be ashamed of, but rather something to embrace. This embracing came with its own unique way of life—a never-ending cycle where there was never any room for error. I was born with Glycogen Storage Disease (GSD) Type 1a, a rare, life-threatening genetic disorder that changes the ways the body uses and stores glycogen—a form of energy. To survive, people with GSD must drink cornstarch and check their blood sugars throughout the day. Most people with GSD can wait approximately four hours before their next dose of cornstarch. However, I am an anomaly. 

After getting diagnosed, I was put on cornstarch, the regimen for GSD. But, after fifteen months, my body started rejecting it, and to this day we still don’t know why. The doctors knew they needed something to maintain my blood sugars, so they decided to try Tolerex, a high carb, low volume formula for people who need alternate nutrition to survive. Growing up, it was given to me through my feeding tube everyone and a half hour to keep me alive. 

I clearly remember the day when all my friends were playing at the playground, and I asked my mom if I could drink it, so I didn’t have to sit for so long to get tube fed. 

I have been drinking Tolerex ever since, until last summer when everything changed in ways I could never have imagined.

 

Alyssa Temkin as a child being treated at Conn Children's

 

Years of Failed Attempts and Holding onto Hope

At least once a year, I would spend a week in the hospital, trying again to switch my daily regimen to cornstarch. When we would try the cornstarch, every few hours, a certain amount would be mixed with water and pushed through the feeding tube in my stomach, yet without fail it always made me sick. I wanted it to work so we would try several times before I inevitably had to accept the fact that cornstarch was not going to be my regimen at this time. I was going to have to go back to Tolerex but in my heart deep down I knew that I was ready to try again at some point.

The summer of 2024 though, things were different.

The week in the hospital felt like a blur and after 18 years of my life on Tolerex, and two days before my birthday, I was finally on cornstarch. The best birthday gift I could have ever asked for. 

 

Alyssa Temkin as a child being treated at Conn Children's

 

A New Chapter of Freedom and Possibility

I will never forget the day that I left the hospital. I was going home with all new supplies and a whole new life. Instead of having my formula have to be refrigerated and kept on ice, I would now be carrying pre-measured containers of cornstarch that I would mix with water before I had to drink it. I would have more time and freedom between checking my blood sugars and a dose of cornstarch. I was ready to embrace the new changes but also feared the unknowns and being able to get used to this new life. Yet, I would persevere like I always had and was excited to embark on this new journey.