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When a Doctor's Appointment Led to My Diagnosis of Septo-Optic Dysplasia

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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.

two women standing outside next to a building
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.

Originally published: January 26, 2016
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