It’s time to let the world get to know our amazing rare advocates! Each week I will be highlighting an advocate here in my blog as well as social media. If you would like to be featured in the spotlight, please click here.
Parent Advocate | Bohring-Opitz Syndrome
- Elizabeth City, NC
- Contact info: Email | Twitter | Facebook | Website
- Vice Chair of the Bohring-Opitz Syndrome Foundation
- BOS affects approximately 85 people worldwide
- Passionate about: Legislative Policy, Patient Support, General Community Awareness, Healthcare Professional Education
Why did you become an advocate for your rare disease community? What was happening in that community that made you want to take action?
My daughter Talynn, was born in January 2014. We had no idea what was wrong but knew something was. We battled until 13 days before her first birthday without any answers. Having a child and the doctors not having a clue what is wrong was a horrible feeling. I knew I did not want families to have to wait that long to receive a diagnosis. I became an advocate to raise awareness and shed some light on Bohring-Opitz Syndrome.
What was your first success or defining moment as a rare disease advocate?
One of my first successes happened this past year. I had found a photo on Instagram using the hashtag #specialneeds. It was a photo of a 10yrs girl. I reached out to the mom to let her know I saw features of BOS. Her mom messaged me back and said she would bring this up to her geneticist. After 10 years of waiting, it was confirmed Campbell had BOS! I helped a family find an answer!
Share some of your biggest accomplishments as a rare advocate?
One of my biggest accomplishments was working with a few moms from the BOS Support Group to create a ribbon and establish a BOS Awareness Day (April 6). The second HUGE accomplishment was working with another mom (Carrie Hunsucker) to establish a non-profit for Bohring-Opitz Syndrome.
Share some of the hard realities you faced advocating for your rare disease.
One of the hardest realities I have faced is not knowing all the answers to all the questions…. Living with a ultra-rare syndrome is difficult and I always get faced with questions like “Will my child ever walk?” “When will he/she talk?”, “What severity would you say my child is?”. I do not like being negative as our children are a blessing but I also want to be realistic to these moms.
What project(s) are you working on now for your community?
I just got back from Rare Disease Week on Capitol Hill and presenting to CHKD Residents for Grand Rounds. I am now working on the third annual BOS Awareness Day. To do this ; I package and ship awareness products around the world to help promote awareness; I create profile photos for the BOS community; I design our annual tshirts; I have a small gathering in my local hometown to raise awareness.
What advice would you give to an advocate just starting out?
Do not give up! Advocating is very important and no one will advocate for a child like their parent. I also suggest finding a group or person to help you. I wouldn’t have been able to do it by myself. Carrie Hunsucker did a ton of work to help with the BOS Foundation and with her help it is now established and we have an amazing board of directors!
Why do you find working with advocates from different disease groups beneficial?
Working with other organizations/different disease groups helps us grow. The Rare Disease Community is small and many of these organizations have the same goals. So teaming up together is beneficial not only for the learning experience but also for awareness for the Rare Disease Community.