Friday, July 3, 2009

My New Diagnosis: Cone Dystrophy: 04/30/09






I was not on pins and needles too long before Dr De Carlo called me with the Electroretinogram results. I got a voicemail saying she could not leave this information on the phone and must reach me directly to discuss my case. I understood her ethics but lamented some about the phone tag. I got off work and still no call. I sat waiting on the bus while staring at my phone as if that would help it ring. I checked the volume because I mute it out of habit at work. I checked the battery. I checked the voicemail. Finally at the very late end to my doctor's exhausting work day I got the call! My bus still had not arrived so I talked to her with quiet enthusiasm in my employer's lobby.

She told me I have what she suspected: Cone Dystrophy

Dr De Carlo stated by doing this electroretinogram test we ruled out the possibility of other optical diagnosis. I asked her several questions about the symptoms. It all added up! I have light sensitivity problems during daylight hours, I can see well at night, I have color blindness, and I have problems seeing fine details. She was so professional and kind. She assured me that the diagnosis itself would not hinder my pursuit to be a bioptic driver. I was relived. The thought had actually never crossed my mind. I never once thought she may find something that will inhibit my ability to try bioptic driving. She went on to tell me that cone dystrophy can be genetic. She said that more family background may help shed light on this issue. She said there's no cure at this time as it's all a brain centered problem. But, with more advanced genetic research there is hope.

Another thing I learned during our conversation was that if it was inherited there is a 50 percent chance I will pass this on to my children. Scary.....I never EVER thought about this...I know I want kids, but would this prevent me from having any with my DNA? The short answer is NO. I believe in God before science. Plus, if I can do this, I'd have no problems teaching my kids to deal with it. Science is good, God is greater. He has a plan for each and every one of us from conception to infinity. If He want's me to have a child I will.

If you remember, in the previous blog about my "2nd Passenger Evaluation," I said that my only hope is to see if my doctor can give me tools to see red lights better in the daylight hours. I also stated that Dr. De Carlo's office had no appointment till June 18th. We touched on this subject and she graciously and sincerely apologized for the long wait to see her again. I told her it's no big deal, I've waited 30 years to do this, what's a few more months of waiting going to matter? haha So the waiting begins......again.....for the next exam and my last hope of continuing this dream. I pray it is not the end.

BY THE WAY:
If you want to learn more about what Cone Dystrophy is check out this link: Cone Dystrophy


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