Fighting Isolation When You Are One in a Million: Gabby’s Story in Honor of Rare Disease Day

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By Gabrielle Z.

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A very special person once told me: “You are dealt the cards in this life that only you are meant to handle.”

My name is Gabrielle but everyone calls me Gabby. Growing up, I was described as a strong and radiant child. I was so full of energy and loved being around family and friends. People told me that my smile lit up a room. I started dancing when I was 3 years old, and I loved every second of dance class. I had dreams of becoming a professional dancer. Being up on the stage with my best friends was the light of my life.

Everything started to change when I got a very serious stomach virus when I was 10. My parents rushed me to the Emergency Room in fear of what type of virus I had. After extensive bloodwork, doctors discovered that I had elevated CPK (Creatine Phosphokinase) levels and liver enzymes. This discovery started my journey involving specialty doctors, tests, and prescribed medications. At the age of 10, I was misdiagnosed with an auto-immune disorder. After years of medications trials, we decided to give up due to me being symptom free. 

At this time, I was leading a very typical life. I attended school, had many friends and continued dancing competitively for many years. I eventually went on to get my Master’s degree as a school psychologist. Eventually, with our own research and perseverance, a genetic diagnosis of Neutral lipid storage disease with myopathy (NLSD-M) was given to me. At the time of my diagnosis, there were only 15 cases known worldwide. The chance of being diagnosed with this disease was one in a million.

At the age of 20, my life started to decline physically when my mom questioned why I was picking up my glass of water with my left hand. After being questioned, I went to pick up my glass with my right hand and realized I had no strength in my hand to pick up the glass. In the years to come, I started to experience muscle weakness in my right shoulder and arm. Currently, I have a great deal of weakness in my upper and lower extremities which has made daily functioning extremely difficult, especially walking. The only interventions available to me are occupational therapy, physical therapy and strength training, all of which might slow the progression of this disease but will not cure it.

I question every single day why I was given this life. I do realize that, for now, there is no cure for NLSD-M. Even knowing this, I try not to lose hope in research, doctors, and medicine. Through my support team of family, friends, and my incredible therapists, I have the strength to keep fighting every day. 

The fear I face every day is what my future will look like if therapies or medicines aren’t developed for NLSD-M. I have created a nonprofit foundation, Gabby’s Wonderful World, with the hope that research will continue and a treatment will develop for people like me who struggle with this rare disease. I want others who have been given this diagnosis to feel supported and to know that even if they’re one in a million, they are not alone. We are stronger, emotionally and physically, together.  

Rare Disease Day is important to me because it is a day where you know you are not alone. For my entire life, I have struggled with feeling alone in my journey. To this day, I am the only known case in the United States of Neutral lipid Storage disease with myopathy. Knowing that there is no one else like you in your own country is very isolating, especially when there are no current treatments. But knowing there is a community out there that faces some of the same challenges I do brings comfort to me. 

As a school psychologist, I bring support and comfort to people’s lives daily. I think rare disease patients can support each other and others can support us in many ways, including the following:
1. Bringing awareness to the world about rare diseases and being able to have a voice and speak about what you are going through.
2. Ending isolation and bringing individuals together when diagnosed with a rare disease by providing the emotional support to navigate this new way of life.
3. Driving therapeutic treatments for a disease with no cure, even if that treatment helps one individual.

This Rare Disease Day, my family and I will be wearing our stripes and lighting up the house in Rare Disease Day colors to show our support for every single person who struggles with a rare condition. 

Feeling inspired? Click here to read more stories and learn how you can get involved this Rare Disease Day, including by making a donation to NORD today.    

Gabby started her own nonprofit organization to bring awareness to her condition. Are you interested in learning how to start your own organization? Check out NORD’s RareLaunch Program today.