Septo-Optic Dysplasia

Maybe I will be incriminating myself as the world’s worst person ever, but there was a time when I was exactly the person I now fear the most. I was the person with whom I hope my son never has to interact, but know he will. I avoided, felt annoyed by, and downright feared people who didn’t have the same abilities as me. If I saw a person who was disabled in public, I remember thinking, “Shouldn’t someone be with them? What if they try to talk to someone?” I thought if I had to interact with them, I would be uncomfortable, and I didn’t want the “inconvenience” of having to feel that way. Worse, I thought it was “my right” to be protected from it. I am disgusted with myself when I remember this. Worse, when I thought of the person’s family, I felt sorry for them — for having to care for someone who required so much attention. I really, truly didn’t understand how someone could say, “They’re the best thing that ever happened to me.” I always believed people who said this were just trying to make the best of their situation, or were in stark denial. Kris’ son. Having a son was by far and infinitely, the single most wonderful thing that has ever occurred in my life. It didn’t happen overnight. We didn’t know exactly what all his diagnoses would mean for him, or for us. But we did know he would be different, and that he would face challenges. I never felt sorry for myself; I never feared what interacting with him would be like. I never thought my life was over. Maybe my son chose me for a reason. Maybe it’s a cosmic fate, like we are a special kind of soul mates. Maybe the universe was just trying to strike a balance somewhere and the spinner landed on me. Maybe I am just really, really lucky. I don’t know. I am not big on faith or ideologies, but I know one thing with complete certainty: regardless of how or why it happened, I am so grateful. I will never take my son for granted. I will always be his advocate, and I will always have a special place in my heart for people I once misunderstood. Kris, her husband and son. The Mighty is asking the following: What is a part of your or a loved one’s disease, disability or mental illness that no one is aware of? Why is it time to start talking about it? Check out our Submit a Story page for more about our submission guidelines.

The journey to get a diagnosis for your child’s disability can be long and frustrating, especially if the condition is not readily visible. You will likely be told you need to “be patient,” or that you will have to “wait and see.” My wife and I cringe whenever we hear these phrases, because we believe that time is of the essence. The earlier you get a diagnosis, the earlier you can begin treatment, which can make a huge difference in how your child progresses. Our son Joe was born at 8 pounds, 6 ounces in September 2013. Joe is our second child; his sister Holly was born two years and 17 days earlier. We immediately knew something was different about Joe. We could tell he was having trouble tracking and focusing on things; he never made eye contact or looked at toys we presented him. Everyone told us this was to be expected, because newborns usually have poor eyesight. But we had Holly as a benchmark, and although we agree every child is different, we couldn’t help but compare them to each other. When he was 3 months old, we took Joe to see an optometrist who prescribed glasses to correct his farsightedness. Although he looked cute in his new glasses, they didn’t seem to help at all. We were told to “be patient” as they may begin to help in time. At 5 months, our pediatrician referred Joe to an ophthalmologist who suspected he had a condition called Leber congenital aumorosis (LCA), which would mean lifelong blindness. He was sent for testing, and we will never forget the sound of cheers coming from the medical staff in the pitch black examination room when they saw a response from light stimulation sent into his eyes. The doctor, who came to tell us the good news, seemed a little perplexed that we didn’t seem to share the same exuberance. We were happy Joe did not have LCA, but we were still without an explanation for his symptoms. A month or two later, we were referred to see a neurologist, who ordered a number of blood tests and told us the results suggested a peroxisomal disease called Zellweger syndrome. To this day, we still have no idea why she was so sure, but she did an excellent job of convincing us. The disease would likely mean Joe would not live to see his second birthday. We were absolutely devastated. Determined to exhaust all possibilities for treatment, we began to research Zellweger syndrome and any studies that might give hope. The more research we did, the more the diagnosis just didn’t seem to fit. Joe was thriving, growing, and making noticeable gains week after week. If he actually had Zellweger syndrome, we should have seen the opposite. It was time for a second opinion. Our pediatrician then referred us to a neurologist at the local children’s hospital. Almost immediately, he confirmed that Joe did not have Zellweger syndrome. We were very relieved, but again not quite ecstatic, because we still had no diagnosis. The neurologist made an appointment for Joe to get a MRI on his brain. Based on the results, he was able to determine that Joe had a midline brain malformation as well as optic nerve hypoplasia. We finally had a diagnosis, and it wasn’t nearly as scary as LCA or Zellweger. Joe has septo-optic dysplasia. This meant he would likely be visually impaired to some degree, and may also have an intellectual disability or other neurological disabilities. Since his diagnosis, we’ve learned Joe is also prone to seizures. When he had his first seizure, he had to be flown by helicopter from our vacation to the emergency room at our local children’s hospital. He was completely unconscious for his first helicopter ride, and it was over the Rocky Mountains, too! The diagnosis has definitely given us some new grey hairs, but then again, what doesn’t do that to parents? We’ve also recently learned that he is likely on the autism spectrum. We’ve just begun this process for diagnosis, but we feel like seasoned veterans at this point. Our advice for parents beginning the diagnosis process is to be vigilant. Question everything, and speak up if you think something is wrong. Don’t accept “wait and see” or “be patient” if you feel that the process is stalling or unnecessarily slow. We know waiting for referral appointments and test results can be excruciating. We know the medical professionals are trying their best, and have to be thorough before they can give a diagnosis. An accurate diagnosis can be crucial for your child’s treatment. We heard one professional explain it like this: “If you have 100 people: 50 with the flu and 50 with a bacterial infection, it is likely they would all have a fever or other similar symptoms, but an antibiotic would only help half of them.” It’s important to get the diagnosis right because it will determine the best course of action to help treat your child. At 2 and a half years old, Joe is nonverbal, but he’s making gains and slowly coming out of his shell. We wouldn’t trade him for anything in the world and feel truly blessed to have him in our lives. He adds so much joy and variety to our lives that we honestly can’t remember what life was like before him. Now that he has a diagnosis, we are able to get him the help he needs. We feel relieved, because we know we are doing everything we can to help him live the best life possible. Eric’s son, Joe. The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

Chronic illness can take a toll on anyone who is affected — especially if you don’t have doctors on your side when things get rough. When new symptoms come up out of the blue and there’s no one to run to, you may eventually get tired of “being brave” or “pushing through the pain.” For some, the harsh reality of chronic illness might become too much, and they may begin to believe there is only one way out — suicide. Johna and her teacher during Spirit Week. I was in the school bathroom one day after an administrator led me there because I had temporarily gone blind due to an eye condition called septo-optic dysplasia. For weeks prior, I had heard other kids whispering about me in the halls as I was walked to class. They said things like, “She only wants attention” and “She’s such a faker.” As I sat in the stall, I heard two girls talking, and I recognized one of the voices as a friend I’d known for years. She whispered, “You know she’s pretending, right? She just likes when the teachers pay attention to her. She should kill herself.” I cried for a few minutes, then I decided she was right. There’s no reason for me to be here if all I am is a burden. No one wants to have to walk me to class or read all my math tests out loud to me. I knew what I had to do. A few days later, I came home from school and went to the kitchen. I grabbed the first pill bottles I could find and screamed to God that I’m sorry — but then I froze. I couldn’t do it. Something told me that I was going to get help soon, even though I didn’t understand how. I hid the pain and dragged myself to school. I had to stay after school that day to finish a calculus test, so my teacher got out her book and sat next to me so she could read it to me, as usual. She knew something was wrong, so she gently encouraged me, thinking I was frustrated with the math. She looked at me with such sincerity as I sat there trying not to cry. She whispered, “You can do this,” and I realized that, finally, there was someone who cared. I apologized over and over for being “such a hassle,” and she reassured me that I was “not a burden” and to never think that I was any trouble. She said she’d “do anything for me.” For the first time in months, I felt happy. Johna and her teacher working on a test together with Johna’s video magnifier. After that day, I looked forward to going to school, and I actually enjoyed learning calculus. My teacher helped me realize that I am strong and I do have a purpose, whether other people see that or not. I realized that my life was turning around, for the better. She instilled in me a passion to succeed and to live happily, despite my challenges and the bullying that I have faced. She is my role model, and I hope to be as great of a teacher as she is when I’m older. She has continued to help me through my senior year, and we’ve spent many hours working on calculus tests out loud together, even though we do get distracted quite often to tell a funny story or watch a video on Facebook. Without my wonderful teacher, I might not be here today, and I also may not have pursued my dream of becoming a teacher to the visually impaired and blind. I am so blessed to have met who I believe is one of the greatest teachers. It’s amazing how someone can save your life with one simple phrase. “You can do this.” If you or someone you know needs help, see our suicide prevention resources. If you need support right now, call the Suicide Prevention Lifeline at 1-800-273-8255.

As a spoonie, I’ve come to the realization that chronic illnesses and their diagnoses are a lot like Pringles: “You can’t have just one.” When the diagnoses begin to pile up, it is quite easy to become overwhelmed and begin to lose hope. However, a diagnosis is the first step to treatment, and potentially getting better (at least partially). I will share with you all my recent experience with strange symptoms, a new diagnosis and the effect it had my course of treatment for several conditions. It started one day at school. I grabbed my “Heart of Darkness” novel from my book bag as usual, but something was different. I scanned over the pages frantically because I couldn’t read one single word. I looked for my teacher, who came to my aid. With tears streaming down my cheeks, I explained to her that I couldn’t see anything except light. She stayed with me and took me to the assistant principal’s office. I immediately got an appointment with my optometrist, with the help of my vision teacher, for that afternoon. He was at a loss. He made a rush appointment with a retina specialist — worst experience ever. When I saw him the next day, he was beyond rude. He proceeded to tell me I was “faking” and “seeking attention” just because I stated how helpful my school was being. He shouted for me to “hold my eyes still,” which is impossible for me since I have nystagmus (involuntary movement of the eyes). I left the office brokenhearted. Soon after, I made an appointment at an ophthalmology clinic. This was a much more pleasant experience but still not very informative. I was told I’d have to “get used to” my episodes of blindness, which wasn’t an option for me. I didn’t want this to be a part of my life forever. I tried to cope as best as I could while waiting for my next appointment. I attended a regional competition with no vision, which wouldn’t have been possible without my amazing director, as well as each of my cast mates, who literally led me around everywhere that day. They all made the competition unforgettable, but I still longed to have vision. Johna (left) with a friend As my appointment approached, semester exams came and went. I had to take each one orally, which was a challenge (especially with calculus). However, my teacher was exceptional! She traced each graph on my palm and slowly went over each problem with me. I somehow managed to pull a 101 percent on that exam. How? I’ll never know. OK, the moment you’re all waiting for… my appointment. It was life-changing. I walked into the exam room, nervous as usual. The doctor walked in and got my history. He looked me over, turned to his students and said the words septo-optic dysplasia. Once he explained it, everything began to make sense, such as the repetitive movements and my missing septum pellucidium, something every other doctor has ignored. I cried tears of joy right in that exam room. He said, “You don’t want anything for those movements, do you? Please don’t say yes just because people say mean things to you, because if people make fun of you, screw them. You’re you, and you’re perfect.” He is also investigating the issues from my hydrocephalus and Chiari malformation, which will hopefully set me up for a pain-free (sort-of) future. I am no longer able to participate in any sports, but I can still be on stage. I have to constantly monitor my vision with bi-monthly appointments to my specialist, but I am so full of hope. Hope for a semi-normal college experience in spite of my other illnesses, hope for a future and hope for getting better. I am eternally grateful that doctor took the time to get to know my case and didn’t make assumptions or pass me on to another doctor. Even with this diagnosis, I am me, and I am perfect. Well, not exactly… Editor’s note: This is based on one person’s experiences and should not be taken as medical advice. Consult a doctor or medical professional for any questions or concerns you have.