There are many things in life that are just hard, but imagine having to live with a rare, life-threatening genetic disease that is still unknown by many. Having Glycogen Storage Disease has shaped me into who I am, taught me a lot, and forced me to put things into perspective. There are many challenges, but also many benefits, and I have learned so much from living with a disease.
I have Glycogen Storage Disease Type 1A, which can also be referred to as GSD. It is a rare genetic condition where you cannot maintain your blood sugars. It interferes with the way the body turns food into energy. Due to a missing or impaired enzyme, the body is unable to maintain normal blood sugar levels, leading to low blood sugar (hypoglycemia).
Not only do I have to live with a disease, but I am the only patient with GSD in the world who cannot handle the normal regimen that every other patient takes. Other patients take cornstarch which helps maintain blood sugars for three hours or more. On the other hand, I take Tolerex which maintains my blood sugars for only 90 minutes. If I were to miss taking Tolerex, or be late for my testing and drinking, it could lead to severe hypoglycemia, which unfortunately doesn’t have any physical signs I can feel; this could also lead to seizures and possibly death. With my rigid schedule for my health, it obviously impacts my daily activities and my school work. While I do believe I am capable of participating in everything, there are times when my health takes priority and dictates what I can and cannot do.
Additionally, with my disease, there are food restrictions that include not being allowed to have sugar, fruit, and large amounts of dairy. If I had too much of these foods, there could be a build-up in my liver and I might develop tumors and adenomas. Personally, I believe that not being able to have sugars, fruit, and dairy has not had a big impact on my everyday life. However, sometimes I wish that I could taste certain foods and not have so many restrictions.
At times, my friends feel bad for me when they are eating cakes, candies, or fruits, but I’ve learned how to create sugar-free desserts and treats that are not only yummy but sometimes even better than those my friends are eating. As I have grown older, things have become much easier for me. I am now able to test my blood sugars by myself and I have my alarms set on my phone every 90 minutes so that I do not forget. Also, I drink my Tolerex now rather than being fed through a feeding tube. Even though this is a very limiting disease, I still participate in many activities just like others my age. Some activities that I love to do are swimming, playing tennis, and being on stage! I enjoy swimming and playing tennis because I like to be active and enjoy the outdoors. I also love theater because I enjoy performing and being able to become someone that I am not.
I am sure that many of you are starting to feel bad for me, but I do not want people to feel that way, as it is really not that bad. I am able to manage things just like others. I have grown up understanding how important it is to be positive and not let anything hold me back and throughout my life, and my parents continue to reinforce that. My parents have always taught me to be proud of who I am, be true to myself, and always remember that there is not one person that goes untouched, everybody has something they struggle with, even if they do not realize it. I should never be embarrassed or feel sorry for myself. Glycogen Storage Disease is something I have but definitely not who I am.
While I wish I did not have GSD, I know that I have helped so many other people overcome their fears when they suddenly have health issues themselves. When I was in kindergarten, my teacher was diagnosed with diabetes, and to this day, she still tells me that it was because she watched me constantly having my blood sugars tested that she could be brave and not question taking care of herself. This teacher is just one example of how I have made a difference in someone’s life.
In 2010, when I was in kindergarten, I even helped change the law. Connecticut state law required that only a registered nurse was permitted to administer a student’s blood tests and feeds during the school day. There were even limitations to what they would allow parents to do. Realizing that this would be a detriment to my school experience, my parents, with the help of local state legislators, rallied to have the laws in Connecticut changed. My family, educators, medical professionals, government officials, and friends joined me at the State Legislative Building where they and I personally testified. Finally, the law was changed to permit caregivers other than a registered nurse to take care of me and other children with similar health conditions. It was not until a few years later that I was truly able to understand the impact that changing the law had on me and others.
I am sure many of you think about how to be strong at times in your life, and what makes you brave, and who your heroes are. We all have things we want others to know about us and are discovering about ourselves.
While the treatment for rare diseases is very important, so is the research to find a cure. Although all this sounds terrible, it is really not that bad and I am so lucky that there are now trials being done for gene therapy treatment. Additionally, I always continue to be hopeful, because (who knows) maybe in the future I will be cured!
Although the thought of having a disease is scary, I truly believe that living with GSD is really not bad and has changed me for the better by making me a much stronger person overall. Having this disease has taught me to speak up for myself, be confident, be comfortable in my own skin, always be empathetic for others, and be able to understand when others are going through difficult things in their lives. No matter what, it will not stop me; it is just what I have and will never describe who I am. In life, it is so important to put things into perspective and remain optimistic amid adversity, and I’ve learned how essential that optimistic mindset is when faced with life-changing misfortune.
We all have obstacles in our lives, and we can either choose to let them get the best of us and wear us down, or we can choose to be the person who can overcome any obstacle and look at these as life’s opportunities rather than struggles. I choose to be an overcomer. I choose to live every day to the fullest. Not many are as lucky as I am, to be able to pass a law. This process instilled in me at a very young age an understanding that any individual has the ability to affect change.