Within a few weeks of bringing her newborn daughter home from the hospital, Columbus resident Shannah Hudson learned something was wrong.
A newborn screen revealed her daughter, Emmalyn, had a rare genetic disorder called Glutaric Aciduria/Acidemia Type 1 (GA-1), which prevents the body from completely breaking down certain types of amino acids. These partially-broken down acids can work as a neurotoxin in the brain, which, depending on severity and treatment, can cause a range of debilitating symptoms, including hemorrhages, seizures or death.
Emmalyn, now 7, is the reason Shannah started her advocacy for research on rare diseases.
“We want to give Emmalyn the best life she can possibly have,” Shannah said. “She’s incredibly blessed, even with the disorder–she’s actually the best case scenario for the disorder. The newborn screen is why a lot of kids with GA-1 can have happy, healthy lives. Without that, she wouldn’t be the kid we know today.”
Shannah has been an advocate in the fight against rare diseases, such as Emmalyn’s, for the last three years. Now the Mississippi representative for the Southeast Regional Genetic Network, she spent the last week in Washington D.C. for Rare Disease Week. Wednesday was Rare Disease Day, which recognizes people who suffer from rare diseases. The National Institute of Health classifies rare diseases in the United States as any that affects fewer than 200,000 people.
Emmalyn is her motivation, and Shannah hopes her advocacy can help push for a cure one day, through calling for increased clinical trial research for rare diseases.
“What keeps me motivated is the hope for a cure one day in her lifetime,” Shannah said. “Not just for her, but all those who have rare diseases. For 95 percent of the people who have a rare disease, there is no standard treatment. There’s no FDA-approved protocol or drug. All rare disease patents have basically no support.”
As part of her trip in Washington D.C. , Shannah met with the offices of federal legislators representing Mississippi, including Sen. Roger Wicker. As part of those meetings, she told them about Emmalyn, her story and her advocacy work, as well as pushing for legislation for increased funding for rare disease treatment and research.
“Rare Disease Week is an important reminder for the need to spur innovative medical research and remove barriers to groundbreaking new patient treatments,” Wicker said in an issued statement. “I am especially grateful for advocates like Shannah Hudson, who fight for this cause not just during this special week, but every single day.”
For Shannah, advocacy is about raising awareness that, she hopes, will one day lead someone to work toward finding a cure such as enzyme replacement therapies that are already available for other disorders.
“Without public awareness, there will not be any change,” she said. “There has to be awareness for someone to be inspired to take interest to find a cure.”
Alex Holloway was formerly a reporter with The Dispatch.