The Loneliness of an Orphan Disease Diagnosis

A rare disease is defined as any disease that affects a small percentage of the population, often fewer than 200,000 people in the United States.  Oftentimes, due to the rarity of these diseases and lack of a large patient population, gaining support and resources for treatment options is a challenge. Receiving a diagnosis of one of these rare diseases can leave an individual or family with a very isolated and lonely feeling. This was our experience after receiving the news that our daughter, Aria, had been born with a rare retinal disease.

When Aria was about two months old, we noticed that her eyes were doing a rapid back-and-forth movement that seemed to be increasing in frequency. She was so little that I simply thought her eyes were still adjusting, until one day I watched one eye drift from top to bottom, with no control.  We then decided to address it with our pediatrician. Although they did not recognize any issues and seemed unconcerned, we pressed them to see a specialist, which brought us to our first appointment with a pediatric ophthalmologist. Upon her first exam it became immediately apparent that something was very wrong. The ophthalmologist pulled up a picture of Aria’s eye on a computer screen and explained to us that all the markings we saw on the screen were areas of abnormalities in her eye. I remember saying to him “But that’s her entire eye?” He excused himself and stepped outside to make a phone call. He returned and said he was able to get us a last minute appointment the following day at Associated Retinal Consultants to see Dr. Michael Trese. He assured us that we were very fortunate to be seeing one of the best pediatric retinal specialists in the world. I remember thinking to myself, “doesn’t it take months to get in to see a specialist!? Why is it so urgent to get her in?” I felt sick. The next day we met with Dr. Trese and he confirmed that he did see a retinal detachment, discussed several possibilities of diseases that could potentially be the culprit and we were set up for Aria’s first exam under anesthesia the following week. Everything happened so quickly. That night my husband and I sat up Googling all the different possibilities and overwhelming ourselves with information. The following week, she was examined under anesthesia by Dr. Capone and received her official diagnosis of FEVR (Familial Exudative Vitreoretinopathy). We met with Dr. Capone in a small room inside the children’s surgery center where he drew us a diagram of her eye and began detailing what he found. I was hoping that my husband was absorbing everything he said because, if I’m being entirely honest, I didn’t hear much after he gave us her diagnosis. All I heard was, “your daughter was born with this disease and there is no cure for it.” After that, my emotions got the best of me. Dr. Capone concluded by telling us that he wished this would be a one-time visit for us, but instead this would be a journey for Aria and for our family.  I was sobbing when I returned to the waiting room and then went to be with Aria as she came out of anesthesia. Another mother saw how distraught I was and was kind enough to offer her phone number in case I needed someone to talk to. And I really did need someone to talk to.

I was a first-time mom, still adjusting to nursing, sleepless nights and everything else that came along with being a new parent. I had never heard of FEVR, nor did anyone in our family have any major eye related issues. The news that Aria was born with a progressive retinal disease, and the fear of what that meant for her future, was overwhelming. The knowledge that this is a genetic disease and how that may affect our future children also terrified us. When all of this came out of the blue, we weren’t prepared for it…..and we were devastated. After dealing with the initial sense of shock, a deep sense of loneliness began to set in. Friends around us were starting their families also, and everyone was having healthy babies…..why was this happening to our baby!? I was heartbroken. I didn’t feel like I had anyone to relate to or who understood what we were going through. I reached out to the mom who had given me her number in the waiting room and was so grateful to talk to her. Although our children had different diseases, I still appreciated the opportunity to speak to someone who understood how I was feeling. I desperately needed to connect to other families and began seeking ways to do so. I joined a Facebook group. I inquired with Dr. Capone to find out if there was any kind of organization I could get involved with or opportunities for fundraising. I wanted to feel like I was doing something to support my daughter and other families affected by blinding retinal diseases.

Over the years, our journey has involved several procedures for Aria, including the placement of a scleral buckle on her left eye for partial retinal detachment, laser treatment, and many exams under anesthesia. In February of 2016, Aria experienced a bout of glaucoma, which resulted in an ER visit and ultimately the depletion of the vision in her left eye. It also included Aria being asked to be the Honored Hero at the first annual Hope for Vision Walk! This is such a special memory for our family and the number of people that showed up to support us really touched our hearts. We are beyond blessed to be surrounded by so many amazing family and friends who continue to participate in the Hope for Vision Walk and we look forward to the event each year.

Aria is now eight years old and enjoys dance class, Girl Scouts and drawing. Anyone who knows Aria knows that God equipped her with an immeasurable personality. Aria is confident, big-hearted, creative and absolutely hilarious. For the first time in her life, she seems to be growing in her awareness of her disease. Only recently, she has begun saying things to me like, “Mom, I don’t think anyone in our neighborhood has eyes like me,” or “Mom, I don’t think anyone in my school has eyes like me.” “Mom, can you set up a playdate with someone who has eyes like me?” Again, my heart breaks. I now recognize that Aria is experiencing a feeling of loneliness because she doesn’t have anyone she feels she can relate to. She has such confidence and embraces being unique. But I also don’t want Aria to feel like she’s different in a negative way. I want to help Aria connect with kids her age so she doesn’t have to feel lonely, but because this disease is so rare, we have had little success. Once when she was only 2, someone from our FEVR Facebook group announced that they were coming into town for an appointment at Associated Retinal Consultants, and invited anyone local and interested to get our kids together and meet. On a recent trip to Disney, we encountered another family whose daughter had a single partially closed eye just like Aria. The girls spotted each other across a crowded restaurant and were immediately intrigued by one another. We had the opportunity to introduce the girls, and although we discovered they were dealing with different issues, they were so happy to meet one another.

In the past few years, I have become involved with the Pediatric Retinal Research Foundation and the Family Advisory Committee, helped with fundraising efforts for the Hope for Vision Walk and other various events. I am beyond grateful for the work of these groups and their commitment towards a shared mission and quest for a cure. I’m excited to be a part of the FAC and a witness to the rapid progress that has taken place in the past year. The FAC is focused on building a community of support and resources for those affected by rare retinal diseases. They are working to support this community by creating networking opportunities, providing education, fundraising efforts and emotional support.

As parents, we wish we could protect our children from everything, fight all their battles and endure all their hardships. Obviously and unfortunately, we cannot. We can however help prepare them, support their needs and quite simply, love them. For me, getting involved has been a part of the healing process and will continue to be. I encourage you to get involved in any way that works for you. Participate in fundraising and consider putting together a team for next year’s Hope for Vision Walk. Join the Family Advisory Committee Facebook group or tune into the new “Through our Eyes Podcast.” And don’t miss the opportunity to participate in the upcoming Family Connection Conference in January. This year’s virtual conference will focus on education for parents and caregivers, provide research updates with the doctors, and will include speakers and breakout sessions. There are now more ways than ever before to get connected. The hope is that these opportunities will help bridge the gap between families and individuals who feel alone, and create a community of support for those affected by these rare retinal diseases. We are not alone in our struggles, and together, we are capable of so much.

Lisa LoVasco, Parent and Family Advisory Committee Member