Shannon Hudson, mother from Columbus, is doing everything in her power to bring awareness to Glutaric Aciduria/Acidemia type 1, a rare disease her daughter was diagnosed with upon birth, reports The Dispatch. Thanks to newborn screenings, it was only weeks after she took Emmalyn home that she learned of the diagnosis. While never easy news to swallow, diagnosing the disease early on allowed Emmalyn to have a happier, healthier life than she may have had otherwise.
Glutaric Aciduria/Acidemia Type 1 is a rare disease that affects the break down of amino acids. This can lead to a range of aggressive symptoms such as seizures, hemorrhages or even death. Emmalyn is now 7-years-old and has a happy life, and probably the best life her disorder will allow. Without the early diagnosis, her mother shared that she might not be the same kid she is today.
For several years Shannah has been strongly advocating for rare disease awareness. She is currently a representative in Mississippi for the Southeast Regional Genetic Network. This last week she spent time in Washington D.C. in honor of National Rare Disease Day. Shannah expresses that her daughter is her greatest motivation to fight for awareness and eventually a cure. She wants to find a cure during her daughter’s lifetime and is not just fighting for her daughter, but for all the other people who suffer from rare disease.
Not only did Shannah fight for the cause on Rare Disease Day, but she fights every day, all year. She hopes to continue to raise awareness with hope that one day it will bring about funding and research, that will lead to a cure.
If there is no public awareness, there can be no change. It all starts with people like Shannah and her daughter Emmalyn.
