Kelly's opthalmologist looked at her eyes for the first time since she was diagnosed with NF-1. We were there to listen to his diagnosis. Prior to his examination we discussed with him what we had found out since her last visit for ptosis. Back then ptosis was the least we should have been worried about but we didn't know any better. Her ptosis was minor...a 1 on a scale of 1-10 (10 being most severe). Back then Dr. Dorfman, who by chance happens to be one of the best opthalmologists in Florida, told us it was a cosmetic thing and did not affect her eyesight at all. Back then I remember thinking that perhaps we didn't need to continue seeing him if this was only a cosmetic issue.
But in June that all changed when we were told that Kelly tested positive for NF-1. This diagnosis changed a lot of how we look at her medical treatment especially when it comes to her eyes. Part of the effects of NF-1 is the potential for tumors to arise behind the optic nerve. The other effect of NF-1 is pigmented bumps on the eye's iris (Lisch nodules). Our genetist recommended we see Dr. Dorfman for a followup to check for these potential problems.
So there we sat and watched Dr. Dorfman shine all kinds of special lights into her eyes. All the time he was promising her a Barbie sticker. She couldn't wait to get the sticker. We were holding our breath hoping he would promise us something good. Kelly is oblivious to all of the medical terms and probes. But I am not. I get scared thinking that her optic nerve might have complications. I am not so sure about lisch nodules except to say that anything that is on her iris that is not supposed to be there can't be good. The doctors promise me that lisch nodules are completely harmless. That they are just like the freckles on her body. Lisch nodules are even less like the freckles because they can only be seen with a silt lamp.
Oh that's another thing. Before NF I didn't know what a silt lamp was. Now I know. Another life lesson!
The examination ended and the doctor said that while he could only view the tip of the optic nerve with his special lights it looked clear and saw no concern yet for us. However she does have lisch nodules. Yet another confirmation of NF. When she is 7-8 years old she will most likely have an MRI done to see clearly to the entire optic nerve which will help him to make a certain confirmation.
Kelly jumped out of the chair and thanked the doctor for his promised Barbie sticker and I thanked him for caring so much about my precious little one. He looked back at me and said that she will be just fine. I pray he is right.