Expert Insights

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Retinitis Pigmentosa (RP): A Daughter’s Journal

Retinitis Pigmentosa (RP): A Daughter’s Journal
05 April 2019

We continue to recognize Rare Disease Day and the rare disease community joining together to raise awareness of rare diseases with another personal story from one of our employees on her father’s struggle with Retinitis Pigmentosa. Retinitis Pigmentosa is a group of rare, inherited disorders that result in the deterioration of cells in the retina, slowly reducing central and peripheral vision.

By: Anonymous

My father was a strong, tall, dark and handsome Greek man. To say he was a proud man would be an understatement. He was self-made and had an incredible work ethic. At the young age of 12 he worked after school and on the weekends to help support the family. What does a 12 year old boy do to earn a living in the 1940’s? He lies about his age and becomes a used car salesman! Thus began his love affair with automobiles, drag racing, and his need to push his limits.

Fast forward to the age of 18, “the Greek” realized he had issues with judging just how close he was driving to the cars parked on the street. On occasion, he would knock off the side mirror of a parked car, and, after the third time, he went for his first eye exam. He was diagnosed with a loss of peripheral vision. A specific diagnosis was not made, as Retinitis Pigmentosa was yet to be defined.

RP is actually a group of genetic disorders affecting how the retina responds to light. The cells in the retina are called rods and cones, and in RP, these cells die.  In fact, light, in all forms, has an impact on the retina. Typically, it is the loss of peripheral and night vision first, then the darkness moves inward. It is common to become legally blind by the age of 40, and for the majority, complete blindness is inevitable. There is no cure for RP.

He was a Master Sergeant in the Korean War; he was still a young man, and fought in the mountainous glare of the snow, exacerbating the vision loss.  Yes, the Army overlooked his flat feet and his vision loss and enlisted him anyway!

When he returned from the war, he was again selling cars when he married my mother. Eventually he developed a reputation for being the “best” car appraisal man in New Orleans. Cars became his life and livelihood for our family. He was very successful, and even built his own car dealership.

As a kid, if I heard it once, I heard it a million times, “Pick up your shoes from the floor!”  I really didn’t understand why it was such a big deal, as our parents never mentioned Dad’s vision issues, and his disease remained undefined. 

Upon diagnosis, the world came crashing down. Dad’s depression worsened, as well as his vision loss, to where he could no longer see an entire car to appraise it, or even to see customers approaching the car lot. Eventually, he stopped driving at the age of 51. As a bonus, he developed Usher’s Syndrome, which is related to RP and causes significant hearing loss and/or deafness.

I will spare you the specifics of the ups and downs, the number of psychiatric hospital visits, the nervous breakdowns, the daily struggles and financial challenges. Like my Momma said, “Chicken today, feathers tomorrow.”

This once great and proud man lost his social status, his wealth, his success, his friends, his career, and his identity to this unforgiving disease.

At the time of Dad’s passing, he was completely blind and totally deaf. He had lived this way for several years, alone and unreachable in his own prison.

A rare disease impacts the lives of every family member, not only the person with the diagnosis. This seems like a logical statement, but no one really understands this until you have lived it. 

While today there is no known cure for RP, low vision therapy and aids can help to make the most of existing vision. Use of antioxidant vitamins has shown some ability to slow further vision loss and retinal implants may be an option for some patients. Additionally, clinical trials on gene therapy and leveraging healthy cells to replace damaged ones hold promise for the future. For more information, please visit Foundation Fighting Blindness.

Contact us to learn more. 

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