top of page

Richard's Story

benwyman

Updated: Oct 11, 2024

Richard was 26 years old when on a holiday camping and trekking in Wales he noticed that the backs of his legs had become tight and painful. His condition did not improve with rest, and later when he had returned home, the pain finally subsided, but he could still only walk about 20 yards without feeling exhausted.


The Parfett Family


As time progressed from his initial symptoms, Richard shared with us that “a work colleague pointed out that I had lost a great deal of weight, so I approached my general practitioner. I spent several months in the local hospital where a number of different doctors working under a consultant neurologist arranged and carried out many tests in order to find a diagnosis. Finally, I was given a diagnosis of Refsum Syndrome, and I was told there was no treatment, but they would help make sure my death was as comfortable as possible.”


How did he react to this news from the physician?

“I found myself grieving for the life I might have had. My parents were members of the Retinitis Pigmentosa Society, and my mother had read the description of Refsum Syndrome written by a professor and reproduced in the Retinitis Pigmentos Magazine, and with the support of my general practitioner and my mother, I self-referred to the Refsum clinic at Westminster Hospital. Professor Giberd and his team then diagnosed three of my brothers as well.”


Richard said it was good having brothers to share ideas about coping with Refsum with, but when “we meet socially we all seem to ensure that Refsum does not dominate the conversation. We each have people around us who seek out and find interesting foods that are safe for us to eat and to help us stay consistent with the Refsum diet."


"They notice and share when Refsum is having an active effect on us, and they provide care when we are fatigued or have need of sight and hearing support. I overheard one of our partners saying to another of our partners ‘there is more to this Refsum disease than meets the eye’."


A painting of Richard's


Despite the diagnosis and eventually losing his sight, Richard has found it very useful and highly supportive when the “Global Dare email group shares experiences and ideas; including the advice and guidance one gets from wise old heads, or the newest developments in treatments and diet.”


Global DARE Foundation's mission is to promote world-wide awareness and better quality of life for all who are diagnosed with Adult Refsum Disease, like Richard and his brothers. Our goal is to support research, education initiatives, awareness campaigns, and advocacy.


Help us improve early detection, research, and quality of life for those affected by Refsum.


Join us for this year’s Refsum Awareness Week from October 12 – 19th. Throughout the week we will be showcasing some of the most exciting new advancements in Refsum research through webinars on mental health tips for living with a chronic illness, and the latest clinical guidelines for the Refsum Diet!




28 views0 comments

Recent Posts

See All

Comments


Commenting has been turned off.

Contact us

P.O.Box 865

Windham, Maine 04062

United States

info@GlobalDARE.org

global-advocacy-alliance-founding-member-badge.png

Follow us

  • Facebook
  • LinkedIn Social Icon
  • YouTube
  • Instagram

EIN: 84-3343395

501(c)(3) IRS Approval:

NORD logo.png

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. 

© 2024 Global DARE Foundation

bottom of page