Our trip to Philadelphia went really great. We took off on Friday July 30th, Me, Reese, Willy and my parents. Reese had a doctors appointment Saturday morning at CHOP (Childrens Hospital of Philadelphia). We met with Dr. Pierce who was a great doctor. He answered a lot of questions and did an exam on Reese. He confirmed what our doctor at Primary had said that yes she does have something wrong with her eyes but he didn't know the extent to which she has Lebers. He explained that there are different types of Leber's and that it could be a rod or cone dystrophy or something else. He said we would have to wait to get our genetic testing back. Willy and I also attended a two day conference on Lebers on which we learned a ton of great information. Willy went to all the medical research sessions, and I attended the informational classes like on music therapy, orientation and mobility etc... I loved the classes I went to and Willy couldn't quit talking about all the things he had learned. My parents even went to a grandparents discussion that they said was really neat.
After our the conference each day we were able to tour Philly and see all the sights Liberty Bell, Independence Hall, Betsy Ross House. Philly was a fun city to be in, but very dirty and a little scary. Willy and I took the underground Trolley one night downtown and it was a little creepy!!
After three days in Philly we took a bus to New York for two days. We had such a great time there, I will never forget all the fun memories we made and it was so great to have my parents there with us. Willy, my dad and Reese went back to the motel each night at about 11 and me and my mom shopped till we dropped each night. The last night there My mom and I went to the Broadway show Mary Poppins, it was amazing. The show lasted until 11 of course we couldn't go back to the motel we headed out shopping at about 2 we decided to head back to the motel because we had to get up at 5 to catch our flight. We were only about 5 blocks from our motel but decided to get a cab because we didn't think our legs could hold up for even 5 blocks!!!
Monday morning after we got home I got a call from our geneticist at Primary. She said that after 9 months of waiting she had recieved our genetic testing back from Carver Lab in Iowa. NO GENE FOUND. What this means is- there are 15 know gene mutations that cause Lebers. The Foundation for Retinal Research is still researching possible genes that could cause it but right now only have 15. 30% of the people that have Lebers however have genes that are unidentified. We are one of them. This means that we are farther than ever away from a cure. Reese's DNA will go into research now, but I have heard from other parents that you feel your child has been completely forgotten about once it goes to research. I HAVE HOPE....... I will NEVER give up hope. On the other hand though I am coming to accept the fact that Reese will probably be all the way blind one day. I am brushing peoples comments off easier lately that I know they don't realize hurt. I feel like I have spent the last year since we got our diagnosis in a cloud feeling confused, grieving, being a little angry, but also being so grateful and overcome with joy for having Reese in my life. The last year has taught me so much about being compassionate and realizing that the Lord prepares you for everything in life. Willy and I talked tonight about things that we felt have prepared us to help Reese. I am so blessed in my life. I know that my Heavenly Father knows me and knows that I can learn the things I need to help and teach Reese. I have so much HOPE...WE WILL NEVER GIVE UP HOPE!!!!
