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My Refsum Journey

Learn about the  journeys of people with Refsum Disease and why early diagnosis is so important to quality of life.

People on a Boat

Michel Veys

Belgium Ambassador, Global DARE Foundation

"Unfortunately, I experienced heart problems from about the time I was diagnosed with Refsum Disease in 1988 and even before that. My heart condition deteriorated slowly and accelerated in 2003 quite deleteriously. Twice my life I was in peril as the result of pulmonary edema, the first time in 2004 and again in June 2008 followed by a 41-day hospital stay. During this stay my heart was so weak that my caregivers finally decided to put me on the waiting list for a heart transplant since I clearly fulfilled the transplant list criteria. The average waiting time for a donor heart here is typically about 8 months so I consider myself very lucky to have been called for my transplant after only four weeks from being put on the donor list. That was incredible! One of the procedures imposed on me is regular plasmapheresis which is thought will protect my new heart from the effects of Refsum Disease"

People on a Boat

Chantal Valkenburg

Netherlands Ambassador, Global DARE Foundation

"3 months after the birth of our second son I started experiencing severe problems on both my lower legs. When problems got worse, I could barely walk, I was directed to the Neurologist at the regional hospital. There they could not uncover the reason for my problems, so I went to an Academic hospital. After a long period of intense research, it was the Ophthalmologist who suggested to get me tested for Refsum Disease. Due to all the symptoms Refsum Disease causes, my life is significantly smaller than it was before. By being a member of Global DARE Foundation, I want to help with raising awareness as much as I can."

People on a Boat

Susie Breuer

Australia Ambassador, Global DARE Foundation

"I was diagnosed in my early 40s after I tried to improve my fitness and lose weight. When I was diagnosed my body essentially crashed to the point I could barely hold myself up. It took about 18 months to be able to walk again using a walking stick by reducing my phytanic acid levels and physiotherapy. Over a period of about 2 years I had about 9 related hospitalisations. In hindsight I have textbook Refsum symptoms. Had I been diagnosed by Ophthalmologists and Ear, Nose and Throat (ENTs) who treated me when I was younger my symptoms may not have deteriorated to the extent that they have and I would have more mobility, less pain and a better quality of life. I want specialist doctors to be aware of Refsum so that they can diagnosis people earlier and potentially prevent further deterioration of symptoms"

People on a Boat

LIz Ebbage

UK Ambassador, Global DARE Foundation

"Being diagnosed with Refsum’s Disease in my early 20’s, I’ve lived with this challenging disease for several years but, with the help of Global DARE Foundation we can reach other patients and help with early diagnosis to prevent the major symptoms advancing"

People on a Boat

Susan Kuranoff

Swiss Ambassador & Board of Director, Global DARE Foundation

"After driving for decades, I was forced to give up driving a car due to increasing tunnel vision. Over time I was also forced to give up cycling as it was no longer safe. Losing mobility is a painful experience as it means losing some of my independence and freedom"

People on a Boat

Kristie DeMarco

President, Global DARE Foundation

"Because of Refsum Disease in 2 years I went from being a healthy Ironman level triathlete to being in constant pain and limited exercise. I have had 3 surgeries since being diagnosed with Refsum Disease due to impacts on my joints. Now I am on a mission to raise awareness and find better therapies through the work of Global DARE Foundation."

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United States

info@GlobalDARE.org

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Disclaimer:
This website is not designed to diagnose, advise or provide medical opinions, treatment or services. It is for general knowledge purposes only. Please consult a licensed medical professional with all questions and concerns regarding a medical condition. 

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