Real People. Real Stories: Teigan's Story

Teigan lives in Gippsland Victoria, Australia, and was diagnosed in 2021 with Refsum Disease. Her journey was not an easy one for a young woman, and she graciously agreed to share her story with the Global DARE Foundation. Here is Teigan’s story.

When and how were you first diagnosed with Refsum?

My name is Teigan.

I was diagnosed with Refsum in 2021(at 28 years old). I knew from a young age that I had Retinitis Pigmentosa (RP), and when I was older, I joined some RP Facebook groups. In one group, a woman Kristie DeMarco made a post about the common signs and symptoms of Refsum Disease. It included a caption along the lines of ‘if you have these symptoms, and RP, get tested for Refsum’. I first googled Refsum Disease after that post, and couldn’t believe the symptoms I was seeing that explained so much of my life to that point.

After seeing the Facebook post, I made a doctor’s appointment and requested a blood test for phytanic acid. In my small town I was met with some resistance. The doctor had never heard of Refsum, plus the test was going to cost more than $200. They were skeptical and hesitant to refer me. I really had to insist and advocate for myself that I didn’t believe my symptoms were coincidental. Eventually I was successful, however I became nervous to get the test done, and put it off for a few months.

When the results came back showing I had over 1,100 units of phytanic acid in my system, I was referred to the Royal Melbourne Hospital immediately, where my diagnosis was confirmed, and who I have seen ever since. They’re a fantastic team!

I first learned about the Global DARE Foundation after receiving my diagnosis. Again, through social media, I was looking for Refsum support groups on Facebook and found ‘Refsum Friends’, a group created by the Global DARE foundation.

It’s helped greatly in my journey; from following the diet guidelines -which has significantly reduced my phytanic acid levels- to finding and connecting with people who have shared my experience. I recently went to the city to meet with Kristie DeMarco and others with Refsum. It was fantastic to hear their stories, and for the first time I felt very understood. I hope to continue raising awareness and educating myself using the Global DARE resources.

My Life Now:

I am lucky enough to work for a really wonderful small business in Gippsland that provides Assistive Technology for people living with disabilities and the elderly members of our community.

I had made the scary decision to step out of my comfort zone in personal care after 8 years, and start a new job as a customer service representative in the beginning of 2021. Only a few months later I received my Refsum diagnosis.

I was open from the beginning with my employers that I was visually impaired and had stopped driving on the advice of my optometrist, and they took me onboard without hesitation. When I found out about my Refsum diagnosis and shared this with them, I was met with the kind of compassion and understanding that I never could have expected.

I’ve now been with the same business for four years, where I have had the opportunity to undergo further training. I am so pleased to say I have recently obtained my certificate IV in Human Resource Management, and am now the HR/Quality Coordinator here.  

What do you love most about your life today? 

The things I love most about my life today are spending time with my family & my incredible friends. I come from a family of 6 kids, and my siblings have given me the most beautiful nieces and nephews to love. My friends have shown me what it means to be loved unconditionally: whether they are friends I’ve always had, or ones I’ve recently found, I am forever grateful for them. 

The things that I love most about my life, however, would not be complete without mentioning my fiancé, Adrian. We have been together for almost four years, and share our two dogs, and our cat Tippy (who just happens to be blind too). We have a beautiful home and veggie garden together, and we’ve just bought a small caravan to start our travelling adventures. I still have around 30% of my vision, and pride myself on being very self-sufficient, but I would not be where I am today without his love and support.

What are some of the ways you cope with Refsum?  

I have closely followed the Refsum Diet recommended by the Global DARE guidelines that has helped me immensely. For a long time, I didn’t realize that the way you feel inside your body isn’t the way that everybody feels. Before I started the diet, I was tired all of the time, frequently sick, thin, and quite weak – and I didn’t realize that not everyone felt that way.

Since changing my diet, I have been able to maintain a healthy weight and feel 100 times better than I ever have. It’s been life changing for me. I’m looking forward to doing more this year to increase my strength and mobility.

What do you hope the Global DARE Foundation could accomplish for you and others with Refsum? 

I believe that Global DARE is striving for broader awareness and earlier diagnosis, and that too is what I’m hoping for. At each appointment I go to, I find myself educating the medical professionals about Refsum disease, and initially had to really push the doctors in my town to take me seriously and commit to further testing.

From what I have heard in the Refsum community, a lot of people have had to become quite ill or even hospitalized before receiving their diagnosis. I’m lucky that this wasn’t the case for me, and that I was able to put the pieces together and get the testing and support I needed.

I know there are others out there who are unable to advocate for themselves in this way, and I hope that in future they won’t have to.

What would you like people to take away from learning about your story, Teigan? 

I am only one of the people living with Refsum, and a lot of people have completely different experiences to me. But when I was diagnosed, I was afraid that I would have less opportunity to do the things I love, or to have a successful career. Refsum is so rare and unstudied that the information available to me at the time was limited (and quite alarming) until I received proper care from specialists, and found resources like the Global DARE Foundation.

I hope that other people newly diagnosed with Refsum are able to connect with me and others through the community Global DARE has helped create, and use their resources to improve their quality of life.

I hope people see in me a person who is loved, and who is making meaningful contributions to their community - and know that they can too.

Teigan S.