This summer, in the middle of June, my family and I went on a happy vacation to Destin, Florida. I watched our healthy two-year-old twins play in the sand with their big sister. I felt so much joy that I wanted to jump up and down! After all, I was standing on the same beach where, two years ago, I had told Kim Enderle, the director of publishing and advertising for Peekaboo Magazine, the story of my family’s 75-day hospital journey–when I had been expecting the same vibrant baby girls I was watching now. At that time, we had endured a long and challenging season, and we were just coming up to breathe – rejoicing that our children were healthy and thriving, and that we were all finally together as a family.
Just two days after we got home from Florida, I was sitting in the chair at my eye doctor’s office, reeling over my sudden diagnosis of an incurable, untreatable retinal disease that would slowly rob me of my vision. The anxiety, worry, and fear of the unknown that I have experienced since my diagnosis has made that happy trip seem like a distant dream. Diagnoses like this have a way of changing our lives. They change our perspectives– they can either devastate us, or make us stronger, more compassionate people.
Retinitis Pigmentosa is the name given to a group of inherited retinal degenerative diseases. There are many forms of RP, and each one presents and progresses differently. RP is rare – only around 100,000 people in the U.S. have it. There are a vast number of gene mutations that cause RP. The mutated gene I carry that causes my disease is called the Rhodopsin (or RHO) gene. Early in life, RP patients usually experience night blindness. As the disease progresses, it destroys the photoreceptor cells (rods and cones) in the retina, and those affected begin to lose peripheral vision. The loss of peripheral vision is called “tunneling,” and, in late stages of the disease, central vision, ability to see color, and clarity of sight are also affected. Most people who have this disease are legally blind in their 40’s. My mom was diagnosed with RP three years ago. She is not one to go to the doctor, and she is a person I would classify as “one tough cookie.” She was not diagnosed until the advanced stages of the disease. If she ever had symptoms, she never talked about them. This was her way of protecting us from being defined by RP. Now that I’ve felt the heaviness of knowing that I have it, I am thankful for that protection. I have been walking with my sister through her diagnosis of RP for almost two years. My mom has one brother who I knew had the disease while I was growing up, and she has had several other aunts, uncles, and grandparents who also had it. I never knew the true name of the disease until Mom was diagnosed.
I have experienced night blindness for as long as I can remember, but I did not know it was indicative of eye disease. When we would go out at dusk to catch fireflies, or play games in the evening with my friends, I would struggle and trip frequently as a child. I started having other symptoms, like seeing bright white flashes, when I was 32 and our twins were infants. I was severely sleep-deprived, so I blamed any symptoms I experienced on my lack of sleep. I spent 34 years of my life obliviously unaware of the fact that I could have inherited anything like this. RP did not shape my decisions concerning the sports I played, my college education, my profession, my spouse, or even our decision to have children.
Going through a difficult, but temporary, season is something we have faced in the past. We learned this when my water broke at 25 weeks into my healthy twin pregnancy. I spent 51 days in a hospital bed, and the babies were born at 33 weeks, followed by almost a month in the NICU. God did some major refining work both in my heart and in my understanding of his goodness and sovereignty – despite my circumstances. I learned to trust Him more, and I learned to lean on the truths I knew about His character. Through that, there was hope that the trying season we were facing would be short, that I would get out of that hospital bed, and that we would eventually bring our babies home.
Encountering a disease with no cure and a trial without end, however, has required a new measure of faith and trust in an unseen God that I am still trying to cultivate. When there is no medicine that can stop the disease, how do I not fall into despair? When I know there is no treatment that will stop me from slowly going blind, how do I live without petrifying fear? As a mom, how do I come to terms with the fact that I will have to look into the eyes of my beautiful little girls and share this painful journey with them one day? Since I was diagnosed, I have experienced unmerited guilt over the fact that I wasn’t able to discuss this disease with my husband, James, before we were married. Each of our daughters has a 50% chance of having RP, and I unknowingly passed it down. I have felt angry, and in self-righteousness I have declared, “Surely God would not have me endure this!” I want to take care of my children, and I don’t want to lose my independence. With unhealthy pride, I think I deserve a perfect life with no hardship. Where is God when I can’t imagine why he would let me lose my sight? I have shaken my fist toward Heaven, and I’ve been on my knees begging God to heal me. In the valleys and on the mountaintops of my life I know God has been gracious towards me. This journey has stretched my faith, and it has challenged and strengthened the fundamental truths I have always believed about God.
I don’t have all of the answers, but I do have some ways I have been able to cope with my diagnosis, and I have found glimmers of hope in a seemingly dark future.
It’s okay to grieve the life that you thought you would have. What comes after grief, however, is the true impact of a diagnosis. John Piper writes, “Occasionally weep deeply over the life you hoped would be. Grieve the losses, then wash your face. Trust God.” Finding hope, encouragement, and purpose despite an incurable disease helps you continue living life. I don’t want to waste the years of good vision I have left grieving what I will one day lose. I have wasted days feeling sorry for myself, and other days I have let anxiety overwhelm me. What I really want to do is hide from RP and eat ice cream, but, I am choosing to pursue peace with my diagnosis, trying to get beyond the grief of the initial diagnosis, and putting on my boxing gloves to fight RP.
Don’t walk alone
I share this journey with many of my family members. We can share ways to cope and continue to live fulfilling lives in every stage of this disease. Not everyone has a sister, mom, or uncle to walk beside them on their journey. I have also found support groups on Facebook. Women with the same disease share their struggles and resources that have helped them cope and find hope in groups like these. I openly share my fears and triumphs on my personal Facebook page. I hope someone can read what I share and know they are not alone! I have connected with organizations like the Foundation Fighting Blindness, which has helped me feel like I am not the only one on the planet facing this scary disease. I have read inspiring stories about people with vision impairment that have done incredible things. Stories of hope, and finding others who are living with your disease can provide community and comfort.
I have chosen to be a part of research that is happening in Little Rock at UAMS through the Jones Eye Institute. I want to be a part of finding a cure for this disease for my children. I will endure tests, long drives, and all of the cost that comes along with this journey with the hope that a cure will be found. By becoming a part of the genetic research registry for retinal disease, I will be aware of any trials or FDA-approved treatments that could become available. I also joined myretinatracker.org, and I share my test results and disease progression to help bolster research for my specific gene mutation. This helps me feel like I am a part of the fight against my disease. I feel connected and informed about groundbreaking research that is going on right now. I will travel, share, and speak on any occasion I am afforded to help raise awareness, share our story, and find a cure for RP.
I have had many tear-filled discussions with close friends, my husband, and mentors/pastors from my church. In small, manageable increments I have shared my grief, fear, and heartache with people I trust. I recently read a story in the book of Luke in chapter 5 about the friends of a paralytic man carrying him to Jesus for healing. He couldn’t get to Jesus without them, and Jesus healed the man–not because of his faith alone, but because of the faith of his friends who believed God on his behalf. Our friends can help us bear heavy burdens we are unable to carry alone. My friends and family have prayed for me when my faith is weak. They have listened to me and encouraged me when I was without hope. There are also professional counselors that can help you work through the gamut of emotions that come with any diagnosis. Talk to someone about how you feel, and know there is healing in sharing your struggles.
My faith has been my companion in every hard season. I have wrestled with and pursued God on this journey. When we struggle, we are forced to recognize we were never actually in control. I’ve had to loosen my grip on my life, set aside my fierce independence, and relinquish the reins– trusting the only One who is truly in control. I take the hard questions to the Creator of all, and examine them under the light of the truths of God I find in the Bible. For me, in Jesus, I find strength, grace, and mercy for each moment. I trust that He draws near to the brokenhearted. God is good, and He is sovereign over all. I am working to find the faith to believe God can use the trials I face for my good and for His glory. God redeems every hard situation, and his redemptive and refining work is done when our faith is tried. I also try to remember that suffering is no mystery to the Savior. I recount the difficult journey Jesus made to the cross, and I remember I am already fully redeemed and restored because of his sacrifice. With an eternal perspective, an earthly trial can be put into proper perspective. One day, I will see Him face-to-face, with perfect vision. My hope is in Christ alone.
I’ve started a list of places I would like to go and things I would like to see while my vision is still good. My mom, plus my sister and I, all want to take an “RP Road Trip” to see some of the most beautiful parts of our country. I’m going to take a trip with one of my good friends from college in the new year. I am so thankful for how I can still drive, care for our home, and watch our sweet little girls grow. I serve a Christian children’s home called Soaring Wings Ranch part-time as Communications Director, and I am enjoying being able to serve them and use my vision and gifts to help kids who are abused or abandoned find a loving home. I’m also thankful for opportunities to connect with other moms who are experiencing difficult pregnancies, enduring the NICU, or who are struggling with their own diagnoses. I want my girls to be brave, and know they can do anything despite vision impairment. I want to walk in a way that shows them they don’t have to be afraid.
I didn’t realize good vision was a gift in my life until I realized I was going to lose it. I’ve discovered, in studying the intricacies of the eye, that good vision is quite miraculous! Creation is wonderful and beautiful, and for so many years I’ve enjoyed sunsets, mountains, smiling faces, and watching my little girls grow. We’ve been given so many wonderful gifts. If you can breathe, walk, read books, go for runs, garden, play a game of basketball, and if you are loved by family and friends, you are significantly gifted. On the hard days, take a moment to breathe, give yourself grace, and look for the “glimmers of hope” that can always be found.
May you find grace for each moment, and peace on your journey. If you would like to write me concerning your own struggles, please email me at firstname.lastname@example.org