Real People. Real Stories. - Jim's Story

My name is Lisa Sherry O’Neill and I live in County Tyrone, Northern Ireland.

I wanted to tell my father’s story because I’d love for people to understand just how extraordinary my dad was. He played such a crucial role in advancing medical understanding of Refsum. Medical doctors could not understand or diagnose my father’s symptoms.  Then his sister was also struck by the disease.  When he and his sister were finally diagnosed at the NIH Clinical Center in Bethesda, Maryland in the 60’s, only six people in the world had been diagnosed with the disease. The immediate treatment was dietary to restrict the production of phytanic acid.  Despite his many disabilities, he carried them with incredible dignity and resilience. He was a true inspiration and that’s what I hope people will take away.

My Early Memories

I was quite young - probably around three years old - when I realized my father was different.  He was partially blind and profoundly deaf, and we communicated using handprint/block alphabet, a tactile communication method which he learned during his time spent in the NIH Clinical Center. I could use this form of communication even before I started school.

I became very vigilant about my surroundings from a young age - especially because my mum was also blind. I was constantly mindful of things like making sure no doors were half-open and that nothing was left on the floor that could cause either of them to trip. Beyond that, though, my parents made every effort to ensure my life felt as normal as possible. My dad’s strict dietary requirements never affected what we ate as a family. I used to look forward to going with him to Belfast for his annual hospital check-ups. As an only child, I felt a strong sense of responsibility, particularly as Daddy got older, but my parents were always supportive of my independence and encouraged me to pursue my dreams—including moving to Belfast to attend university at nineteen.

My father dealt with Refsum amazingly well - he was a real trooper who never complained. For decades, he stuck meticulously to the diet prescribed during his time in Bethesda. Before the updated dietary guidance came out in the mid-1990s, he was incredibly disciplined - making up his daily pints of ‘Marvel’ and strictly avoiding any non-recommended foods. Daddy loved to talk and often shared his medical journey with others. When he still had sight in one eye (black/white, tunnel-vision), he enjoyed spending time at the local Post Office and shop in our village, chatting for hours and soaking up the local ‘craic,’ as we say in Ireland. Daddy was an avid letter writer and a real whiz on the typewriter, keeping in close contact with many people -especially those he met during his time in America. While in Bethesda, he became the hospital’s Checkers (Draughts) champion - no one could beat him! He taught me to play but never let me win! He was always impeccably dressed in a shirt and tie, and even when his eyesight deteriorated further, he maintained his good humor and spirit.

As a child, I used to proudly tell people, “My blood was flown to America after I was born to check for Refsum.”  I feel incredibly lucky to have missed this disease since I come from a family with history. I honestly don’t think I could have handled it as well as my dad did. When I had my own children, I was deeply relieved to learn that they would never have the disease.

I absolutely love my job as an English teacher today. My dad was always so proud of my achievements, especially when I became Head of the English Department. Both of my parents fostered a deep love of reading in me that continues to this day. I’ve been happily married for 23 years, and we have two amazing children: a son, 20, and a daughter, 18.

Quite a few years ago, while researching Refsum Disease on the Internet, I came across the Global DARE Foundation and signed up to receive updates and emails. When I mention Refsum, people - including most medical professionals - have never heard of it. I sincerely commend the Global DARE Foundation for the work they do and wish them continued success in supporting individuals and families affected by the disease.

Thank you for reading this new story on Real People Real Stories.