Alone we are Rare. Together we are One.-NORD*
Let's create a Yasashii world:
Always friendly, always gentle, always kind.
* National Organization For Rare Diseases
The Story of One
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 Zeppieri but everyone calls me Gabby. Growing up I was described as being 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. 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 in my life, 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 Masters as a school psychologist. Eventually, with our own research and perseverance, a genetic confirmed diagnosis of Neutral Lipid Storage Disease with Myopathy (NLSD-M) was given to me. This is an ultra rare genetic disease. At the time of my confirmed diagnosis, there were only 15 cases known worldwide. The chances of being diagnosed with this disease was 1 in a million. Currently, I am the ONLY known case in the United States.
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 entire right shoulder and arm. Currently, I have a great deal of weakness in my upper and lower extremities. The overall weakness has made daily functioning extremely difficult, especially walking. Currently 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 does not cure it.
I question every single day why I was given this life and "why me?" I do realize that for now there is no cure for NLSD-M. Even with 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 this foundation 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're not alone. We are stronger, emotionally and physically, together.
Our Mission
As my life unfolded in a way that I never expected it to, our mission at Gabby's Wonderful World Foundation is to:
1. Bring awareness to the world about Neutral Lipid Storage Disease with Myopathy (NLSD-M).
2. End isolation and bring individuals together when diagnosed with a rare disease by providing the emotional support to navigate this new way of life.
3. Find a treatment for a disease with no cure, even if that treatment helps one individual.
It is time for pharmaceutical companies to make a push in developing a treatment or therapy for us. We understand that the technology and research knowledge is there but there are financial hurdles to overcome. Together as a foundation we will help to surpass those financial hurdles.
Even though we are a small population that are affected by this rare disease, we should be given a fighting chance. Every life matters. There could be people who have this disease who are currently being misdiagnosed. These therapies we are trying to push for will not only help the people suffering now, but the people who will be diagnosed with this disease in the future. There needs to be a push to develop therapies with the potential to improve our lives.
It is time for us as a global community and as patients with NLSD-M to make the impossible possible. I am holding out for a miracle and I know everyone suffering with NLSD-M is waiting for a miracle too. I know that we can make this happen together in pursuit of a Yasashii world; Always friendly, always gentle, always kind.
