Editor’s Note: Today I am excited to release this article, written by an incredible young woman I’ve grown to know and respect as our Digital Marketing Intern. Courtney Burt’s time with us has come to a close. She recently received her Bachelor of Science degree from Saint Michael’s College, but her passion to advocate for those living with genetic conditions will continue far past her eight months with ThinkGenetic. We wish her luck in her new adventures, and will miss her spirit and dedication to our mission. Congratulations, Courtney! – R.O’Keefe
By Courtney Burt, ThinkGenetic Intern, Class of 2018
Being involved in the Duchenne Muscular Dystrophy (DMD) community has opened up my world to the challenges of living with genetic conditions. My original inspiration for getting involved came from my friend Jett, who is living with this rare neuromuscular condition.
For many of you, this condition is something new. DMD affects about 1 in every 3,500 male births. It causes weakness of the muscles, typically resulting in the use of a wheelchair during the teen years, and can limit survival to the mid-20s. Boys with DMD rarely live to see their 21st birthday.
Duchenne is caused by changes in the DMD gene, which contains the instructions for the dystrophin protein. This important protein keeps muscles together, strong, and working.Without dystrophin, damage and deterioration of the muscles worsens over time, which is why this is a “progressive” disease. The worst part? There is no cure.
My Growing Interest in Genetic Conditions
In 2017, I had the opportunity to take a summer internship at the nonprofit foundation started by Jett’s parents, called the Jett Foundation. The mission of this 501(C)3 is to “increase worldwide awareness of Duchenne Muscular Dystrophy with the purpose of raising and appropriating funds for research that will realize a cure for this fatal disease, and programming that will ensure children with Duchenne have the opportunity to enjoy a full life.” I wasn’t sure what to expect.
While gaining hands-on experience, I felt like I was helping spread awareness about Jett’s disease — which may some day lead to a cure for my friend and the approximately 15,000 patients diagnosed with Duchenne who are alive today in the United States.
Soon, summer became fall and a friend showed me a post for a new internship at ThinkGenetic. It was my senior year of college. I felt I had to expand my interest in the world of genomics.
When I started working at ThinkGenetic, I was shocked to learn that there are so many genetic diseases. As a business student at Saint Michael’s College, I had little education in biology, medicine or genetics. My intrigue in the world of genetic diseases and those who live it everyday continued to grow. Interning at ThinkGenetic showed me the ins and outs of genetic conditions from a patient’s standpoint and helped me understand the joy and challenges of growing a startup business.
ThinkGenetic locates and educates individuals with diagnosed and undiagnosed genetic diseases using Artificial Intelligence (AI). I helped the team by working with genetic counselors to obtain trustworthy information that would help guide patients through social media to the help they needed, faster. My favorite part of my internship was working on the Genetic Disease Awareness Campaign! Through this campaign, I learned about rare diseases and posted about them so the ThinkGenetic audience could learn about them too.
From Friend to Advocate
The more I learned about the millions living with genetic conditions over the past eight months, the more I realized there was a need for awareness around the the world. There are over 7,000 genetic conditions! Seth Godin has a saying that really spoke to me when I felt overwhelmed by all the need… “Before you promise to change the world, it makes sense to do the hard work of changing your neighborhood.” Given my personal relationships, I now feel an even stronger desire to advocate for those living with Duchenne and learn what it means to have this disease.
For example, having a physical disability does not automatically equate to having a mental disability. Sometimes, DMD (and Becker Muscular Dystrophy) can cause neurological problems. According to information I found through ThinkGenetic, as many as one-third of children with Duchenne have neurological problems. This is a pain point for me. I notice people change how they speak to my friend Jett versus how they speak to me. Sometimes I feel like shouting, “It’s his muscles that are broken, not his brain!”
Listening to Caregivers and People with DMD
In this community, I have found that others share my same frustrations about the lack of awareness of Duchenne and how important it is to listen and learn. For example, when I spoke with Danielle Edwards, whose 13-year-old brother has DMD, she explained that because of the lack of public knowledge, “I just wish that when I said it [Duchenne], people would know what I’m talking about. People know exactly what you’re speaking of when you talk about cancer. I wish people had the same reaction to Duchenne.”
People with DMD can go to college, have careers, and get married if they want to. “My brother Tanner? He’s a genius,” Danielle said. “He’s brilliant. He is so consumed with facts and he’s taught me a lot. I love going to adaptive summer camp with my brother because I love watching him get on stage and do the talent show. He would join more activities if he could.” Danielle advocates for her brother so he can experience some of the opportunities that she has.
When I asked Alex Lowe, a student at Broward College living with DMD, about his future, he said, “I love going to the conferences held by organizations like Parent Project Muscular Dystrophy because I like talking to people who share the same experiences as me. I’m majoring in journalism. It’s one of the few things I can do despite my disability and I really like it.”
Mothers are my biggest inspirations in this community. I met Tammy Henegar at her home in Ohio when I cycled from Minnesota to New Jersey for charity in 2012. Her son, Braedan, has Duchenne, so she started a foundation in his name.
Being involved with organizations that pave the way for children with Duchenne to have better quality of life has been therapeutic for Tammy. She said, “If we lose that battle, I want to know that I’ve done everything,” but a frustration for Tammy is explaining what Duchenne means. “You have to correct people when they think you are talking about MS (Multiple Sclerosis). Opening that door to awareness is important in understanding Duchenne.”
Braedan Henegar has been lifting up rocks since he started walking. As his symptoms worsen, it is tougher for him to look for bugs under rocks and pick up snakes. However, Braedan is still involved in the hunting community, which has introduced him to so many people who are supportive of him. “Braedan and I were in the car one day after he went Turkey hunting and he said ‘Mom, I hate having Duchenne but I love it,’” Tammy said. “I asked him ‘Why would you love it?’ to which he replied, ‘I wouldn’t meet so many amazing people if I didn’t have it.’”
DMD Organizations and the Future
There are many organizations for DMD that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. One of them is ThinkGenetic Advocacy Partner Parent Project Muscular Dystrophy, a nonprofit organization whose mission is to accelerate research for Duchenne therapies, impact policies and demand optimal care for affected families.
Although there are countless challenges that go along with having a genetic condition, Jett and the friends that I have made through the organizations I am involved with have shown me that is important to continue to spread awareness and have hope for a better future for rare diseases. Since the FDA approved the medication EXONDYS 51™ (eteplirsen) in 2016 — the first drug they’ve ever approved to treat DMD — the community and I are also hopeful for a longer life expectancy for those living with this genetic disease.