It’s time to let the world get to know our amazing rare advocates! Each month 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 | GAND
- Oxnard, CA
- Secretary of Helping Hands for GAND
- Contact info: Email | Twitter | Facebook | Linked-In
- GATAD2B-associated neurodevelopmental disorder (GAND) affects 58 people worldwide
- Passionate about: Research, Patient Support, General Community Awareness
Why did you become an advocate for your rare disease community? What was happening in that community that made you want to take action?
Helping Hands for GAND is near and dear to my heart as my daughter, Olivia, was diagnosed with GAND at the age of 18 months. I joined Helping Hands for GAND at the initial launch in September 2015 and currently serve on the Board of Directors as Secretary. Because we are so few and have limited information about GAND, we have created a safe place for our families to join together in an online community where we can support one another and learn from each other. I am proud to continue to help create a sense of community for our GAND families and further our research efforts.
What was your first success or defining moment as a rare disease advocate?
With the generous help from a Global Genes grant, Helping Hands for GAND was able to host our 1st GAND Family Gathering in June 2016 in St. Louis, MO. We were able to bring together 18 families representing 19 of the known cases in the world (at the time). It was priceless to be able to connect in person with other GAND families to share, relate and support one another.
Share some of your biggest accomplishments as a rare advocate?
I was beyond excited to have Olivia’s neurology doctor interested in our group. Dr. Tyler Pierson from Cedars-Sinai Medical Center in Los Angeles has been leading a case series study on about 30 of the GAND children and anticipates to publish his findings in the coming months. We hope his paper will help bring more clarity to families and their doctors for how we can better help our children.
Share some of the hard realities you faced advocating for your rare disease.
As of April 2017, there are 58 known cases world-wide of affected individuals with GAND. Because we are so small, it’s difficult to get anyone interested in our group to support our research efforts. We’ve been extremely grateful to Dr. Pierson for all his efforts in leading the case series study and also connecting us with his colleagues to perform stem cell research as well.
What project(s) are you working on now for your community?
Helping Hands for GAND has started planning our next GAND Family Gathering which is scheduled for the Summer of 2018. We are also focused on developing literature that we can provide to our families and their doctors that will help to provide more education about GAND. If you’d like to help further our efforts and help those with this rare genetic condition, please visit gatad2b.org.
What advice would you give to an advocate just starting out?
Get connected with others in your disease community and/or find similar disease communities where you can get the much needed support that every rare family needs.
Why do you find working with advocates from different disease groups beneficial?
You can learn from them! What has worked, what hasn’t works as it relates to organizing your non-profit, setting up a scientific advisory board, fundraising, etc. It’s so valuable to development relationships with others in the rare community because together we are stronger.