Real People. Real Stories: Corina's Story

My name is Corina, and I’m 58 years old. I’m from Romania and live in Sântana de Mureș, near the city of Târgu Mureș.  

My husband, Eugen, and I have two children — Rucsandra, 31, and Alec, 24. My wonderful family loves me and gives me all their support. Eugen and I run an accounting firm together, where I work full time as an accountant. It’s the best way to keep my mind busy and not think about my illness all the time. I hope my eyesight will allow me to continue for as long as possible, because of all the organs affected by the disease, my vision worries me the most.

Refsum and My Life

I’ve always known that something was different about me. My fingers and toes developed unevenly, which gave me an inferiority complex and made me try to hide these differences from others. I also had trouble seeing at night, though at first it didn’t seem too serious. As I grew older, especially in adolescence and adulthood, my night vision worsened.

At age 12, I had my first surgery to shorten the second toe on my right foot, and a year later on the left one. These procedures helped a little but not completely. As a woman, it was difficult to accept that I couldn’t wear sandals or heels, but over time I realized that would be the least of my challenges.

My Diagnosis

My diagnosis of Refsum disease came in September 2018 from Dr. Ioana Felea, a rheumatologist at the Rheumatology Clinic in Cluj-Napoca.

The first symptoms appeared in August 2014, when I lost my sense of taste and smell, experienced dryness in my mucous membranes, and stopped sweating. After my second child was born, I struggled to lose the extra weight I had gained. I went to a nutritionist who gave me guidance and a diet plan, which I followed partially. By changing some habits and eating more healthfully, I lost 20 kilograms — and I believe that’s when the disease was triggered by the weight loss.

After that, my sense of taste and smell disappeared completely. My eyes became very dry, and my peripheral and night vision began to deteriorate.

From then on, I started a long series of medical tests — ENT, gastroenterological, neurological, ophthalmological, and rheumatological. I even had a biopsy to check for Sjögren’s syndrome. Despite all these tests coming back normal, my symptoms kept getting worse.

In September 2018, I decided to travel from Târgu Mureș — which has a university medical center — to Cluj-Napoca, a larger and more renowned medical center, to seek more opinions. At the RONEURO Clinic, I underwent neurological tests, but again, nothing explained my symptoms. The doctors there advised me to return to rheumatology and see Dr. Ioana Felea.

That’s when I finally received my diagnosis.

I was fortunate to be the second Refsum disease case Dr. Felea had encountered. Because of her experience, she quickly recognized the signs — the hand and foot deformities, dryness, and loss of taste and smell — and suspected Refsum disease. A blood test confirmed it. No one had thought of a genetic disease before that point, so I didn’t undergo genetic testing during those four years.

At that time, very little was known about Refsum disease. Upon discharge, I was given limited information about the diet I should follow. I began searching online and discovered the Global DARE Foundation and their Dietary Guidelines. From there, I learned which foods I could safely include in my diet to help manage my phytanic acid levels.

My Life Today

Currently, I have central, tubular vision, and my night blindness prevents me from moving around independently. This is my greatest fear — losing my sight completely. The loss of taste and smell doesn’t scare me nearly as much.

I follow my diet very strictly, but my latest test results showed higher values than before, which worried me. From Kristie, I learned that stress — as with many diseases — can greatly influence outcomes.

My life has certainly changed because of this disease, and I try not to let my loved ones feel my suffering. However, when I’m tired or overwhelmed, emotions sometimes get the better of me.

This is my story. As long as I have my family by my side, I consider myself lucky. And I’m deeply grateful to the Global DARE Foundation for their commitment to raising awareness and finding ways to control this disease.

The Global DARE Foundation

In a medical world where so little is known about Refsum disease, the Global DARE Foundation has been a true ray of hope for me — and for everyone facing this same journey. Since there is no treatment yet, their work means everything. Personally, I believe that discovering a way to synthesize the missing enzyme would be a huge step forward in managing this disease.