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The Wrong Diagnosis - Anna's Story
A few months ago on KC Support we did a story of a little girl named Anna.(click here). Since that story there have been some amazing developments. Anna's Mom, Kristy, has kindly agreed to give us an update.
How did You learn Anna had Keratoconus?
In February of 2004, Anna's elementary school performed a school wide eye screening. Her kindergarten teacher called me one evening and said Anna's test came back stating she may have "possible myopia". I made an appointment for Anna the following week. We walked into the office thinking that the worst thing we'd hear is that Anna may need to wear a cute little pair of glasses. At the end of the exam, he concluded that she was in desperate need of vision correction. We were stunned to learn how bad her vision was and yet we saw no signs of eye strain. The doctor handed us Anna's prescription and as a precautionary measure, he decided to do one more test. He explained that this test most certainly would come out fine since it was screening for a condition not normally found in children her age. The technician escorted us to the topography machine and propped Anna up in the chair. A few quick pictures and that was it. We were told that we would not hear from the doctor unless there was a problem. Anna was so excited to look at the new glasses she was getting so we made our way to the racks of frames in the lobby. Before Anna was even able to put the first set of frames on her pretty little face, the tech tapped me on the shoulder and said that the doctor needed to talk to us about her topography. My heart instantly sank. We were led back to the topo machine were the doctor was waiting. He diagnosed Anna with Keratoconus. We were given a very brief and nonchalant description of what KC is about. We were told of only 3 current treatment
options- glasses, RGP lenses and transplants. It took all of 5 minutes. I became physically sick and the technician made me sit down. I was in utter shock.

How Did You Feel After Being Told Anna had Advanced Keratoconus?
It was not something that we were expecting to hear when we took Anna for a routine eye exam. Weeks passed before I could actually say the word "Keratoconus" without breaking into tears. Thoughts of how my little girl's vision would be impacted crept into my head at every moment. I worried about the things that she might "not" be able to do because of this disease. I found myself feeling extremely guilty about all the times that Anna asked me to stop for a moment and look at something but I was just too "busy". I just assumed that I'd have a lifetime to show my children all the wonders of the world. The guilt was overwhelming at times. Some days I couldn't even bring myself to look into her big brown eyes. Yet other days, I couldn't seem to stop looking in them. I feared that kc would rob my little girl of her childhood and force her to grow up faster than necessary.

What Did You Do Next?
 My husband and I decided that we needed to seek out other professional opinions about Anna's condition. Sadly, the conclusions were all the same no matter where we went. Doctors told us that her topography reports showed obvious Keratoconus. One of the most respected corneal specialists in our area noted in her chart that there was "visually evident corneal thinning over the apex". Reading those words evoked terror in me. I can remember every detail about the day the specialist told us transplants were inevitable. "It's not a matter of IF she will need transplants later down the road, but rather WHEN she will need them", the doctor replied. .

How Did This Diagnosis Affect Your Family?
From the attitude of our physicians, it seemed that diagnosing Keratoconus in a 5 year-old girl was little more than just an every day diagnosis. For our family it was the end of life as we knew it. I can't begin to describe the devastation I felt knowing that my baby girl had an incurable disease for which there seemed to be little awareness. It just seemed that Keratoconus wasn't one of the "popular diseases" and therefore little was being done to ensure a predictable and pain-free future for its sufferers. No one could tell me how fast the disease would progress or why she had developed it. Even fewer could advise me how to help a 5 year-old learn to cope with a disease that even the doctors we visited knew little about. I realized that sometimes it isn't always the effects of the disease itself that is so hard to live with; it's the uncertainty of the future and the frustration felt that is most disabling. For our family, it became disabling more so for me as the parent than it did for Anna. Night after night, I stared at the topography print-outs from the various doctors. I had made it my mission in life to learn everything I possibly could about keratoconus. It consumed my life and slowly began to take a toll on my health as well. In a matter of months, I lost 40 pounds and had constant anxiety attacks. I spent every waking moment trying to find a way to help my child. The financial and emotional stress that a keratoconus diagnosis brings also began to eat away at my marriage and our family life, which also included our 3 year old son. I could see our world falling apart each time I looked at Anna.

What Happened Next? Did You Accept the Diagnosis and Prognosis?
No. We became increasingly unhappy with it. We took Anna to visit the optometrist who worked along side her corneal specialist in June. This appointment left me with an uneasy feeling when we were told to disable our cars front air bag and let her ride in the front seat in order to help with the extreme carsickness that she was experiencing. Luckily, an inner voice that once started as only a whisper began to shout at me. The voice became so loud that I could no longer ignore it and I had to find answers to the questions that were ringing in my head.


So If You Weren't Happy With the Diagnosis, What Did You Do?
Over the course of months, I became very active on an Internet KC support message board. I leaned on many people who themselves had Keratoconus. Many of these people have become dear friends of mine. Through their posts and emails, I realized that they all had the same fears and frustrations that I did. Many of them were unable to find doctors close to their homes that were knowledgeable enough to adequately fit them for lenses. Some had been through unsuccessful or unnecessary transplants. Many were having problems with contact lens intolerance. A few members were even living their lives in a total uncorrected blur for the simple fact that they didn't know what treatment option would enable them to best manage with this disease. Yet many of their doctors failed to see the impact that this was having on their everyday lives. We felt and still do feel helpless to this disease. After months of help from a dear friend that also suffers from Keratoconus, countless emails to various doctors across the country, the pooling of resources, called upon favors and a whole lot of prayers, I reached a decision that many people thought was completely unnecessary. Anna and I boarded a plane on September 26th, nearly 900 miles from home, to be examined by a doctor that we had never met. I really had no idea what to expect from the visit. I didn't know how I was going to pay for the trip or how follow-up care would be provided. But everything inside of me said that it was something I had to do for her. The doctor we went to see was Christine W. Sindt O.D., Assistant Professor of Clinical Ophthalmology and Director of Contact Lens/ Optometric Services at the University of Iowa Hospitals and Clinics. She was recommended to me by my KC-er friends as one of the best experts to diagnose Keratoconus in children. She was my last hope to get those nagging doubts about Anna's diagnosis out of my head.

What Was Dr. Sindt's Diagnosis?
 Dr. Sindt did every possible scan to check for Keratoconus and after all these tests she told me the one thing that I had not prepared myself to hear when we boarded that plane to see her. She told me that if Anna had Keratoconus at all, it was extremely mild.. This was completely different from the other doctors we had seen who prepared us for what they saw as the inevitable; Anna's vision fading fast and then a transplant. I was stunned beyond words. Sometimes good news can send you into shock almost as much as bad news. I just couldn't believe it. Anna is currently being corrected with RGP lenses. She now has corrected vision of 20/20. We still have a long journey ahead of us but we now know her future is much brighter than it once was.

So What Went Wrong? How Did These Experts Misdiagnose Anna So Badly?
Anna's prior medical records contained only axial maps (no elevation maps, no irregularity maps, no posterior corneal maps, and no pachymetry readings -either by topography or ultrasound). Not one of the doctors did pachymetry (at least in their notes) which is most interesting because the definition of KC is "corneal ectasia (thinning)". So basically what went wrong was the doctors didn't do all the tests needed to diagnose Keratoconus correctly. They used only one test when they should have used many and it wasn't just the one doctor who did this. It was all of them! The sad thing is our pain was so unnecessary. It has forever changed who we are. I'm certain we received the miracle that every parent prays for. Unfortunately, we never needed a miracle...we simply needed a doctor who could accurately read a topography report.click here for a detailed description with eye maps

So What Now? Who Is Fitting Anna with Lenses?
 Dr. Sindt is too far away to treat Anna on a regular basis. Therefore she recommended Dr. Gregg Russell from Atlanta, Georgia. Both of these doctors are truly amazing people. Dr. Sindt and Dr. Russell have not only restored our faith in the eye care system...they have restored our faith in mankind.
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