Real People. Real Stories.

Teigan’s Story

Tiegan 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 Tiegan’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 old enough to use social media, I joined some RP Facebook groups. In one group, a woman (who I think may have been Kristie De Marco), posted a photo of the classic ‘Refsum feet’ – with shortened fourth toes, and caption along the lines of “If you have shortened toes, and RP, get tested for Refsum’. I first googled what Refsum Disease was after that post, and couldn’t believe the symptoms I was seeing that explained so much of my life to that point.  

Never in my life had I seen anyone else with feet that looked like mine, (I experienced a lot of shame and embarrassment about them growing up) and I had 7 or 8 surgeries to try and ‘fix’ them. After seeing the Facebook post, I made a doctor’s appointment and requested the 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 me 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 they relented, 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!  

At the time, I was not offered any genetic testing, but I have received a referral this year to have it done. 

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 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 De Marco and others with Refsum. It was fantastic to hear their stories, and for the first time feel very understood. I hope to continue raising awareness and educating myself using the DARE resources.  

My Life Now: 

I am lucky enough to work for a 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 recently stopped driving on the advice on my optometrist, and they took me onboard without hesitation. When I found out about my Refsum diagnosis I was met with compassion and understanding, the likes of which 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 and opportunity for advancement. I am so pleased to say I have recently attained 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 & friends– I come from a family of 6 kids, and my siblings have given me the most beautiful nieces and nephews to love.  

The things that I love most about my life, however, would not be complete without mentioning my fiancé, Adrian. We have been together for 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. Adrian has shown me a love and happiness that I will forever be grateful for. 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 truly been a game changer 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 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 on 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 and 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 really back myself to 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 would like for people to see that there is hope. 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 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 their community - and know that they can too.  

Teigan S.