Addison’s Diagnosis Story: Mainzer Saldino Syndrome & RP

We Have a Daughter. She is going blind. She helps us to see. Written by our special guest, Addison’s mom: Diane Bealer. 

When our oldest child (a girl) was just over a year old we noticed that she couldn’t see in the dark. This was a little worrisome to us but we didn’t freak out about it because we didn’t know we should for one, and we didn’t have any clue of the implications for another, the most important reason is that we weren’t ready for the truth at that point in our lives. As she got older we started noticing more clues that something wasn’t right with her vision. She would trip over things in dim light. She would freeze in the dark and not know where things were located. She NEVER got out of bed at night, unless there were bright lights on.

We took her to her first eye appointment when she was about 3-4 and the optometrist examined her and agreed that she needed glasses for nearsightedness but did not believe us about night blindness. It just did not occur in children that young. It wasn’t possible. This happened for 3-4 more years, every year we would go to the eye doctor and plead with them to do a more extensive exam, longing for some kind of answer. Every time it was the same thing. “Kids don’t get night blindness this young”. “You’re worrying too much”

Then the year she was going to turn 8 we took her to her annual exam, and once again I told the doctor of how she ran into things in the dim light and dark. How I knew in my heart something was going on with her eyes. He did the regular eye exam and said he couldn’t see anything wrong with her eyes.

Then I asked a question I hadn’t thought to ask before, “Will you do the same exam, but in the dark?” Continue reading “Addison’s Diagnosis Story: Mainzer Saldino Syndrome & RP”