After coming back from the Global Genes conference, Kristie was convinced that establishing a foundation was the right next step to advocate for a cure for Refsum Disease.
With the help of other patients and family, Global DARE Foundation was formed with 5 board members. DARE stands for Defeat Adult Refsum Everywhere. The first board meeting occurred in October 2019 and received its IRS approval and launched their website in November 2019.
In just 6 short months the foundation was able to launch a website, run two fundraisers, establish an experienced Medical & Scientific Advisory Board (MSAB), and partner with many foundations and organizations in rare disease.
The Global DARE Foundation is fortunate to have a MSAB made up of the foremost researchers and clinicians in the field of Refsum disease, peroxisomal disorders, and retinitis pigmentosa. In their roles as medical and scientific advisers, members collaborate with each other and with the Board of Directors to drive forward better quality of life for those diagnosed with Refsum disease.
“I couldn’t be more excited about our MSAB – they are so engaged and active.”
The Global DARE Foundation has raised their first 20,000 dollars to fund their first research project- analyzing phytanic acid levels in foods. Because people with Refsum disease cannot process much phytanic acid, they need to adhere to a low phytanic acid diet- but only 150 foods have been tested for their phytanic acid levels. Patients are limited in what they can eat.
“If we could make available more foods through testing, we will improve the quality of life of patients. Testing foods is a quick win and will help change the hearts and minds of our Refsum Community. Gradually more people are joining our community calls. It is important because we are all stronger together”
In addition to her work at the foundation, Kristie works full time for TD Bank in data and analytics. Her strong leadership and business background from her professional career helps her drive forward large projects.
“I know when you set clear priorities and objectives, you write them down and share them with others you are more likely to accomplish them. Our objectives for 2020 are on our website along with our overall MSAB objectives. Transparency is important.”
The foundation is in the process of creating a patient registry and are working to acquire a grant for a gene therapy proof of concept.
One of the Global DARE Foundation’s goals is to increase awareness of tell-tale signs of the condition. Refsum disease can be diagnosed through genetic testing, like it was for Kristie, or via a simple blood test that measures phytanic acid levels. “We just need to get out to more ophthalmologists, neurologists, and ENT to educate them.”
“Patients are often diagnosed with retinitis pigmentosa in their twenties but aren’t diagnosed with Refsum disease until much later. Everyone with retinitis pigmentosa should have a peroxisomal panel done. Your vision loss progresses faster the higher your phytanic acid is, so the sooner you go on the diet the better. “
Kristie has been partnering with other organizations as well. She is a board member for the United Leukodystrophy Foundation and considers collaborating a win-win.
“Even if I don’t make a difference for myself- we’re at least advancing research for future generations. I didn’t know much about rare disease before being diagnosed with one. As I learned more I thought, wow, I really had no idea. It was great to join the ULF and advocate for more than just my own disease. A lot of us are dealing with the same things. There can be good synergies across groups.”
Kristie has high hopes for Global DARE foundation and for the Refsum community and is backing them with hard work. “Hopefully people will connect with us and we will have a lot more to offer Refsum patients as time goes on. I want to be that advocate who makes a difference.”