In September 2009, I took Reese to her pediatrician for her six month checkup. The minute the doctor walked in the room he asked me if Reese's eyes always made the up an down movements. I said I noticed that they did, but just thought it was normal baby eyes. The doctor said it wasn't at all normal and we needed to have it checked out by an eye doctor immediately. I sat in the doctors office crying and had to wait for quite awhile after he left to get myself together to leave. I immediately called the eye doctor when I got to the car, and got an appointment that same day. My mom and I took Reese to the eye doctor that afternoon and he couldn't find anything wrong with her and suggested we go see a specialist at Primary Childrens. They called that day and got us an appointment with Dr. Hoffman.
When we went to see Dr. Hoffman he couldn't find anything wrong with a regular eye exam but suggested because of her nystagmus (bouncing of the eyes) that we set up and MRI of her brain and then an ERG to measure what her brain does when light is shot into it.
On October 2, 2009 we took Reese down for her brain MRI. The MRI came back normal.
On October 22, 2009 we went down to have her ERG done. We were sitting in the surgery recovery room with dozens of other nervous parents waiting for their child to come out of surgery. The doctor that is working on your child usually came in called your name you go out in the hall talk for a minute and everyone was smiling and they left.
Dr. Hoffman came in the room called our names and said we need to go in the back room and talk. He told us that Reese had Leber's Congenital Amaurosis which is a rare, herediatry disorder that leads to retinal dysfuntion and visual impairment at an early age, often from birth.
I then asked the dreaded question if Reese would go blind. The doctor responded that there is a good chance that her vision will continue to decrease over time and will more than likely leave her blind one day.
After that they led me to the recovery room where Reese was screaming because she was so hungry. All of the sudden the news hit me and I don't know who was crying harder between Reese and I. The nurse said let me go get your husband, I don't think she quite knew what to do with me!!!!!
The next few days, weeks and month have been very tough and emotional for us and our families.
Some days I feel like I can conquer the world and help Reese get through anything and other days I wonder why my Heavenly Father has placed so much trust in me to help Reese. We have recieved so many blessings in the two months since the diagnosis. I have found mothers all over the country that have children with Leber's that have answered millions of questions and given me so much hope.
I also feel I have recieved so many blessings from my Heavenly Father, the biggest blessing is having Reese in my life. She is so happy and I am so grateful to have her in my life.
I love Reese and am so grateful to be her mother. I pray for Reese to have the best life possible, and hope for a medical miracle.. . . . . . .