Journey to a Diagnosis
As part of the Ataxia Aware project we are sharing personal accounts of those suffering with Ataxia or other rare conditions. We want to provide a safe space for people to talk about their experience with disability, whether themselves or someone close to them. This week is all about Kristie's journey.
At the end of 2016 I was probably in the best physical condition I had ever been in. I felt AWESOME. I had just completed a full Ironman triathlon in Louisville in October 2016. I had done this after my 6 year mission of getting healthy. In 2010 I was 85lbs overweight and not very active. That is me in the pictures above. I had accomplished my goal. Then things changed.
In 2017 my health started to deteriorate. I suddenly stopped sweating, my left leg started to have increasing pain and it was challenging to get motivated to get out of bed. It was harder and harder to keep up my active lifestyle. My doctors had no answers. I continued to push past the issues until June 2018 when my peripheral vision started to become distorted (picture below). That started a whole host of tests and specialist visits while my health continued to deteriorate. I could no longer run or ride my bicycle because of the pain in my left leg. I knew something was “wrong” with me. I continued to trust myself and pushed for a diagnosis. Finally, through genetic testing in April 2019 I received a diagnosis. It was Refsum Disease!
What is Refsum disease?
Refsum disease is a result of a faulty gene (PHYH or PEX7) which results in the lack of an enzyme that doesn’t allow the oxidation of a fatty acid called Phytanic Acid and it accumulates in the blood and fat tissues. Phytanic acid is not produced in the body but eaten through dairy, beef, lamb and fish.
Refsum can be devastating especially if undiagnosed. Symptoms include:
Retinitis pigmentosa (peripheral vision loss, night blindness, blindness)
Anosmia (Loss of Smell)
Polyneuropathy (nerve pain and numbness)
Ataxia (e.g.loss of balance, muscle weakness)
Ichthyosis (scaly skin)
Short metacarpals and metatarsals
Fighting for a Cure
Refsum disease currently has no cure. There is a strict diet to follow to help some of the symptoms and slow the progression of vision and hearing loss. There was promising research done in the past for therapeutic remedies and a potential cure. But the work slowed significantly in 2006 due to lack of funding. I will use my Ironman determination of never giving up to resurrect this research and push for a cure! If you want to join in the fight for a cure you can join us on our Facebook group Refsum Friends or on our Yahoo Group. You can reach me directly at firstname.lastname@example.org
We would like to thank Kristie for sharing her story with Refsum disease with us. If you would also like to get involve and share your experience with Ataxia or other rare condition, please get into contact with us through our social media linked below: Twitter: @Ataxia_and_Me Instagram: @Ataxia_and_Me Facebook: https://www.facebook.com/AtaxiaandMe/
Media Coordinator for Ataxia and Me