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 | Alternating Hemiplegia of Childhood
- Co-Founder & President of Cure AHC
- From Raleigh, North Carolina
- Contact info: Email | Twitter | Website | Facebook | Linked-In
- AHC affects approximately 1000 children worldwide
- Passionate about: Legislative Policy, Research, Patient Support
Why did you become an advocate for your rare disease community? What was happening in that community that made you want to take action?
Researchers at Duke University in 2012 discovered the genetic root cause of the majority of cases of alternating hemiplegia of childhood (AHC). Given our near proximity to Duke, we thought it made sense to begin a close relationship with the research team and the international consortium of researchers they had helped create. We also knew with the complexity of symptoms in this disorder, we needed to have a team of doctors and specialists from many disciplines come together to help improve quality of life for those with AHC. We worked with Duke to create the first ever multidisciplinary clinic for AHC in the world. We also knew that there were likely thousands of undiagnosed cases of AHC in the world (because the symptoms mimic so many other disorders) so we launched an international effort to find them and to provide support for families all over the world who have children and adults with this disease.
What was your first success or defining moment as a rare disease advocate?
When I first got involved in advocacy for AHC, it was 2010. Pepsi had a grant online voting contest called the Refresh project. I led the campaign that successfully won $250,000 for AHC research. This victory was the catalyst that got the Duke team focused on AHC, and that focus led to the big breakthrough of the gene discovery.
Share some of your biggest accomplishments as a rare advocate?
Creating the multidisciplinary clinic at Duke, which has helped dramatically improve the quality of life for many AHC Champions (as we call those with AHC:) ). Helping to raise $600,000 for research. Funding several published research papers. Hosting the 4th Symposium on ATP1A3 in Disease (the primary research gathering for AHC).
Share some of the hard realities you faced advocating for your rare disease.
Raising funds is incredibly difficult! It is especially challenging to run a non-profit on a completely volunteer basis, especially when you are the parent of a child with a very life-limiting disease. We’ve also lost some children and adults with AHC , and those losses are always heartbreaking. Research progress is excruciatingly slow, even in the best of circumstances.
What project(s) are you working on now for your community?
We have several collaborative research projects we are actively funding. We are hosting a family gathering in Boston this July. The multidisciplinary clinic is expanding its ability to see even more patients, we will participate in the 6th Symposium on ATP1A3 in Japan this September, and have numerous fundraising and awareness initiatives.
What advice would you give to an advocate just starting out?
Don’t go it alone! Learn from others who have started this journey before you. You will save enormous amounts of time, energy, and money in the process. There are many ways to connect with other rare disease advocacy groups, both large and small. Global Genes, Everylife Foundation/RDLA,and NORD, all have a treasure trove of knowledge and support for advocates at every stage of the journey.
Why do you find working with advocates from different disease groups beneficial?
The time, energy, and money savings we get from learning from other advocacy groups’ successes and failures are the core reasons why we have been so successful in such a short time. We still make mistakes, but they are not nearly as numerous or as costly if we did not have the benefit of other’s experiences.