Defeat Adult Refsum Everywhere
Kristie was catapulted into the world of rare diseases in April 2019 when she was diagnosed with Refsum disease. It took the gradual loss of her peripheral vision for her to seek help from a retinal specialist in Maine and Boston, MA. Both specialists diagnosed her with retinal dystrophy. It was through a genetic test that it was determined that she had Refsum disease.
How Global DARE Foundation began
When Kristie was diagnosed, there were no clinical trials or research being conducted into Refsum disease. A patient group didn’t even exist exclusively for it! This alarming lack of support spurred Kristie to establish a registered patient organisation. By October 2019, the Global DARE Foundation was formed. The charity held its first Board Meeting in October, and the IRS granted charity status by November 2019.
Kristie found our rare disease charity through Rare Revolution Magazine’s ‘Rare Revolutionaries’ Facebook group! It was via an email and our posts in ‘Rare Revolutionaries’ that she was made aware of our Patient Group Mentoring Programme. When Kristie saw that recruitment opened for the scheme, she jumped at the chance and applied as a mentee. The rest, as they say, is history!
Kristie’s experience as a mentee on our Patient Group Mentoring Programme
Kristie was paired with Ann, who acted as her mentor for a year. Ann’s expertise is in writing, which is why every SMART goal had a writing component to it. Kristie worked with Ann to establish the following three goals for the year:
- Launch a patient registry
- Create a whiteboarding video that describes Refsum disease
- Launch a country ambassador programme
Launch a patient registry
Kristie and Ann wasted no time! They decided on a platform to host the registry and worked to tailor their messaging to the audiences they were trying to reach. They asked each question for the registry in a simple, easy-to-understand and accessible manner, leaving jargon and technical language at the door. To their sheer delight, Kristie and Ann launched the first-ever Refsum disease patient registry in six months! Kristie began connecting with new patients, some of whom were newly diagnosed and started to gather data that could be used to attract interest in Refsum from pharmaceutical companies.
Whiteboarding video
Kristie and Ann wanted to explain what Refsum disease is in a fun, easy-to-understand and engaging way. They decided that a whiteboarding video was the best way to relay this message. Kristie and Ann hired a company to produce the video animation and wrote the script detailing what Refsum disease is for those who don’t know. You can watch their completed whiteboarding video below!
Launch a country ambassador programme
Last on the list was to launch a country ambassador programme. Kristie got this idea from the United Leukodystrophy Foundation and made it her own!
Kristie understood that what works in the USA for healthcare probably differs from what works in the UK, Switzerland, Canada and other countries. Engaging with these countries could prove challenging since Kristie is unaware of how their health system works. It’s why she decided to recruit one or two ambassadors per country to advocate for Refsum patients and their families; many of which live with Refsum themselves! These ambassadors understand the challenges faced by those living with Refsum in the country and are best placed to refer them to the Global DARE Foundation.
Kristie and Ann created a template email, PowerPoint presentation and Refsum brochure (digital and print) that ambassadors could share with patients when attending doctor appointments or encountering them around town. Kristie is thrilled to say that she now has ambassadors in the UK, USA, Switzerland, Netherlands, Belgium, Canada, Germany and Australia!
After our Patient Group Mentoring Programme – one year on!
Kristie has seen amazing advancements since she first began the Global DARE Foundation; not only at her own organisation but also at Retina UK. The umbrella charity Retina UK now has a designated Refsum page that links to the Global DARE Foundation for further support! Kristie and two of Global DARE Foundation’s Medical and Scientific Advisory Board Members also presented on Refsum at the 2022 Global Leukodystrophy Initiative Scientific Conference for the first time!
Refsum disease is one of the only causes of retinitis pigmentosa that has a therapy to slow vision loss. Patients are told to go on a special diet that is low in phytanic acid, which accumulates in the body when living with Refsum. This diet excludes dairy products, beef, lamb and some fish as they are high in phytanic acid.
Phytanic acid isn’t found on a food label. Since the 1990s, only 150 foods had been tested to see how much phytanic acid they contained. Kristie wanted to change this. Often those living with Refsum were guessing whether the food they were eating was safe! The Foundation has tested 100 additional foods since 2021 to add to the 150 foods that were tested decades ago.
This testing made significant improvements to the existing dietary guidance. There is now an easy-to-understand traffic light system for the diet. Patients have been able to both expand their diets with foods that are now considered safe and restrict foods that should be limited or stopped given their level of phytanic acid. This was a big win for those living with Refsum! She didn’t stop there either. Global DARE Foundation will test 40 more foods in 2023 through the Food Testing Programme.
If this isn’t outstanding enough, Kristie helped to establish a new Boston Refsum Centre of Excellence at Mass General and Mass Eye and Ear Infirmary (MMEI). This brand-new centre provides end-to-end care!
As for Kristie’s patient registry, the first research paper was published in May 2023 using the data from the registry. You can read the research paper below.
Well done, Kristie! We can’t wait to see what you and Global DARE Foundation achieve next!
“I think my eyes were open to rare diseases when I got a rare disease. So I want to be helpful, not only to my disease but to other diseases.
You guys are a great organisation focused on helping patient organisations meet their goals, helping to raise awareness of rare diseases and helping us drive forward better therapies by educating and empowering us.”