Looking Past RP with Hope
Jenny was diagnosed with retinitis pigmentosa (RP), just like her mom, at the age of 34. In her own words, Jenny shares her experience with being diagnosed with RP and her journey to accepting it with hopefulness.
By Jenny Schisler
At the age of 58, my mother was diagnosed with retinitis pigmentosa (RP). It is a rare, inherited eye disease that causes blindness over time. She had experienced symptoms since she was young but never let anyone know she was losing her ability to see. My mother was the toughest, wisest, and most selfless person I’ve ever known. In a valiant effort to protect us from the impact of this disease, she never breathed a word or complained for a moment when it came to the daily struggles of visual impairment. In her heart, and through generations of unexplained visual impairments and blindness, she must have considered the genetic impact it could make in our lives. Without words and with quiet strength, she taught me how to lose my eyesight with grace, grit, common sense, and humor. There was not an ounce of self-pity or a sense of doom even after she was told if she lived long enough, she would go totally blind.
I was diagnosed with the same eye disease at the age of 34, three years after my mother. I won’t forget the details of the day, as it seemed as though I was moving in slow motion. I was sitting in an optometric exam chair, and it squeaked as I shifted nervously, waiting for my optometrist to come into the room. My gaze bounced from the eye chart to a brochure about glaucoma with a joyful elderly couple on the cover, and down to my bright toenail polish. My skin was bronzed from our recent return from Florida for a family vacation, and I had pink pineapples on my sleeveless top. I was thinking about my three little girls and how RP could impact their lives one day. I was thinking about my husband and how he had no idea I could one day drop a “genetic atomic bomb” on our family when he married me. I was just beginning to wade into a sea of unmerited guilt and worry when the door swung open suddenly, and Dr. Myers greeted me, gathered my chart, and sat down on a stool to get to business. I defaulted to my usual sunny disposition and asked him how his day was going. Although I was only there for an annual exam, I told him about the flashes of light and visual disturbances I was seeing, and I calmly explained that it was vital that he dilate my eyes and perform a retinal exam that day. I had also learned that to see the evidence of the disease, I had to look directionally during the exam to reveal damage in the mid-periphery of my retina. My sister had taught me the term bone spicules, which are the hallmark of retinal degeneration and provide evidence of damage from the disease. I had been with her through the aftermath of her diagnosis of RP for a year before I began to truly suspect that I had it also. Together, we researched our disease’s genetic implications, and she was tested to confirm what we saw in our family tree. She was a wealth of knowledge, and the experiences she shared with me during the time after her diagnosis proved invaluable in my life.
With compassion, Dr. Myers typed the words I carefully pronounced into a google search bar so we could look at pictures of the foreboding spots together. When you are 1 in 4000, the likelihood of an optometrist knowing how to recognize your disease is unlikely. I was staring into his right eye behind his rimless glasses as he inspected the thin lining of the back of my left eye using an Ophthalmoscope. I saw a glint of recognition and compassion as I looked into his face. My heart was pounding, and my vision became blurry from tears.
I had spent my life blissfully unaware of the fact that I was slowly going blind. A month after my eye exam at an eye institute in Little Rock, I recognized the extent of the loss in my visual field. At least it accounted for a bit of my clumsiness. That day, the research assistant sat in front of me as I covered one eye and fixed my gaze on her nose. She moved her hand around, sweeping through my central and peripheral visual field, and asked me, “How many fingers?” repeatedly. I was stunned by the fact that her hand had completely disappeared in several places. I blinked repeatedly and squeaked out, “I don’t know…” followed by a broken, “I can’t see it.” I had no idea I had blind spots. With both of my eyes open and moving – scanning constantly, I feel like my vision is normal. Where I should have seen her hand, I only saw a fuzzy blur of the slate blue wall behind her. My mind was working feverishly – optical neurons firing to fill in the blank space and produce an image for the missing puzzle pieces. I felt panicked, but the assistant just scribbled down her findings and ushered me out of the room. I marched like a downcast soldier into a darkened room for an ERG (electroretinography) eye test. After two technicians inserted the lenses, grounded by a wire on a box around my neck, I sat for 20 minutes in the dark while my eyes “adapted” to the setting. They showed me a series of flickers, flashes, and patterns for what seemed like ages. I have never been happier for a test to end.
Without words and with quiet strength, she taught me how to lose my eyesight with grace, grit, common sense, and humor.
I sat in front of my husband at home that night and tested his vision in the same manner that the researcher tested mine. He obviously passed my test. I thought I would feel better if he couldn’t see at least one of my two-finger appeals. I told him about how the research assistant’s hand had disappeared with wide eyes and concern. I have been known to colorfully overexaggerate at times, and I love to get loud and tell detailed stories, but his disbelief on the matter was apparent without my usual zeal for storytelling. My disease was becoming real. It was measured and solidified by big machines, fancy tests, and finally, a full genetic panel confirming autosomal dominant retinitis pigmentosa with a single rhodopsin gene mutation.
For almost a year, I struggled with fear and anxiety over the loss of my eyesight, and almost every day I would call my mom. With a racing heart and eyes filled with hot tears, I would march around my neighborhood breathlessly recounting all of my sorrows. I was afraid of losing my independence, fearful of not being able to watch my little girls grow up, and fully terrified of the unknown. With simplicity, grace, and practicality, she would always inspire courage and calm the storm of emotions I was unleashing. She’d say, “Jenny, you are smart, and every day you will wake up [with a little less of your vision] and figure out how to adapt. You’ll find a way to do what you need to do that day. Every morning I wake up, make some coffee, sit on the back porch, and I thank the good Lord I can still see something.” I would feel courage rise up in my chest, and I would muster the strength to get out of bed the next day and take care of my family. I would thank God for my remaining vision, and when I was afraid, I would call her again.
After the first several months of experiencing crushing anxiety, I discovered the Foundation Fighting Blindness. Somewhere in my vast googling about RP, I saw the website, and I filled out an online form requesting an informational packet on RP. I can’t explain how receiving a carefully contrived folder full of information and resources helped me the way it did. I felt empowered and encouraged by simply holding answers to many of the questions I had in my hands. The printed papers reassured me on an intangible level that someone was there for me, that someone was devoted to finding a cure. The same day I received the packet, I reached out to the Foundation through Facebook, and I was quickly connected to a chapter director, Mary Ann. I discovered there was not a chapter or even a local support group in my state. I had been through an incredibly challenging season of feeling small and helpless versus a big scary disease. I quickly resolved that no one should get a diagnosis like mine and flounder about on their own trying to find answers. I had my sister and my mom to walk alongside at the time, and I was still overwhelmed by the magnitude of my diagnosis. I had learned so much, but I still felt completely unprepared. I thought I was a fully-sighted person, then realized I was only partially sighted, and now I am trying to learn to become a visually impaired person – one day at a time.
I was beginning to fully understand the loneliness of a rare disease and the general population's lack of knowledge concerning visual impairment. I asked Mary Ann if I could host a coffee social in my area after learning that this is one way the Foundation connects in a community. In the following weeks, I found a coffee shop, received helpful resources (even a box filled with nametags and brochures), and I was ready to start connecting others who were like me with resources and hope.
It was cold, and there was heavy rain on the date of our first planned coffee social, and although I had received several RSVPs, I sat alone in a coffee shop that day. I had answered emails from people who were genuinely relieved to connect to others on the same journey with inherited retinal diseases. Unthwarted, I planned another meeting the following month.
At the second meeting, five people showed up. I was so happy when my first new friend with RP arrived. That day I felt encouraged by the stories we shared, the resources and connections to retinal specialists, local low vision resources, and genetic testing - all powered by the work of the FFB. Over the next year, we had up to 14 people at our meetings. Many of us are fortunate to know one other person with our eye disease – to know over ten is an incredible gift and privilege. I connected with a 50-something college professor with the same genetic mutation as me, and his wisdom and wit brought rich meaning to our meetings. I connected with a school secretary with Usher Syndrome, whose joy and warmth reassured our group. I connected with a junior high girl with Stargardt’s Disease who loves drama and is choosing to pursue her dreams of becoming an actress, despite losing much of her central vision. She inspired us all to have bigger dreams. I connected with a father who also has three children and works full-time at a computer. The technical tricks he shared with our group helped improve computer work for all of us. I was also connected to my retinal specialist, David Birch at the Retina Foundation of the Southwest through Foundation staff. The care I have received since I started going there has been excellent – even encouraging. Being in the middle of ongoing research and connected to this facility has helped give my eye disease a greater purpose. One meaningful connection at a time, I was moved from feeling utterly helpless and overwhelmed by my disease to resolutely choosing to do something about it. Encouraging and connecting others to resources caused me to take the focus off of my own fears of the unknown and removed any self-pity I was tempted to wallow in.
More than anything, I found that in the midst of pain, compassion grows. A magazine editor heard my story and asked me to write a loose advice piece about getting an “incurable” diagnosis seven months after I was “hit over the head” with it. Writing about my disease provided healing, and it gave me joy. It comforted me to know I could help others who were facing hard diagnoses. Walking through something hard can soften your heart and bring a tenderness toward others who are suffering. I found more friends online and in-person, who shared my disease because of my article. For the first time, I felt connected to a community of visually impaired people that I didn’t know I desperately needed, and I was inspired by their resilience. Little by little, I got my arms around my big scary disease.
Last year, I was honored to write an article for the Foundation about the misconceptions of visual impairments many people hold after a picture of a woman with a cane looking at her phone went viral. The Foundation gave me a voice to feel like I could impact a world of misunderstanding and provide hope to others who are going blind. Another significant connection I made was with Bryan and Bradford Manning, founders of Two Blind Brothers. They frequently shared stories of living with visual impairment, and their humor and realness gave me courage. I visited their home office in New York City on a trip with my college friend, who wanted me to see the city while I still could. I was warmly welcomed as a friend and invited on their live show. They sent me home with an incredibly soft shirt, a smile, and the experience of a lifetime. When I attended the VISIONS conference in 2018, I met many new friends, along with friends I had made online. I was privileged to eat meals with the top researchers and ophthalmologists in the world when it comes to RP. I was humbled to know real people were spending their lives devoted to curing blindness. This Foundation conference was a major highlight in my life.
It’s been four years since I was diagnosed with RP. My twin daughters, who were babies when I was diagnosed, are now in Kindergarten, and my oldest daughter is a second grader. Almost two years ago, I lost my mom after an 8-month battle with lung cancer, and I miss her every single day. Although I can’t call her like I used to, I remember her strength, her wisdom, her selflessness, and her stories and advice, and I’m grateful for every moment I had with her and for everything she taught me.
Four years seems like a lifetime, somehow. It’s as though my disease has always been a part of me, although I do not let it define me, and I choose not to live in fear of it anymore. I see the evidence of my disease every day through bright flashes and firework shows in my visual field, but I look past them to see my children growing, and I’m grateful for the viable vision I have left. Each day, I may lose a little more of my ability to see, but I live with hope. I have hope that one day, my daughters won’t face the same struggles that I did when I found out I was diagnosed with RP, and that they will not lose their ability to see. The research and resources available today give me certainty that they will not. I am stronger, and my faith is stronger too. I am more compassionate, and I have friends I would have never known without RP. I am grateful for the journey I have been on, and even for the gift of visual impairment.