We have a Gene!!

I just got word today from our geneticist that Dr. Chiang in Denver has found a gene mutation in Reese. This is exciting news but it makes me face reality also. Knowing her gene we will be able to know if there is anything they can do for her in the future with the research they are doing

so that part is good. On the other hand, I have always hoped in the back of my mind that she was misdiagnosed and that maybe there is something they could do to help her vision. With this diagnosis she for sure has Lebers Congenital Amaurosis, we are just not sure which type. It is all pretty confusing actually how many different types of this disease there are. Our geneticist wants to meet with us to discuss the risks for future pregnancies and what this gene diagnosis means, but I am in no hurry to meet with her. I need to just take this and let it soak in. I put my faith and trust in my Heavenly Father that he will guide me in having more children and let me know what his plan is for us. We trust our Heavenly Father completely and know that when we come to that point in our lives that he will guide us and give us the strength we need. Somedays my heart breaks when I see Reese constantly running into things and not being able to find toys that she has dropped that our within her reach. But on the other hand she is such an amazing little girl and can do so many things that I thought she would struggle with. I love her so much and she is such a great example to me. I love to watch my nieces and nephews with her. The other day my nephew Brogan was playing with her and some other kids were around and he said "This is my niece Reese, she is blind so you have to help her!!" It was so cute, and they are all so amazing with her.

Reese had her second birthday last month so I included a pic of her at her party. We had a little party with family and she had a blast!!

Update

It has been so long since I have updated our blog. My computer has something wrong with it, and won't open blogs so I can only do this when I am at another computer. Anyways we have had a great few months. We started our second round of genetic testing at Primary Childrens 3 weeks ago. The bloodwork is sent to Denver to be tested and should only take about 3-4 weeks this round instead of 9 months. The genes they are testing for are the "rare" genes that cause Lebers, and I feel like they won't find a gene again, but I am OK with that. I just want to make sure that I have done everything possible in finding a gene, so I can move on!! They took me and Willy's blood too for testing so we will see what happens.
Reese is still going to preschool in Ogden twice a month and loves it, her teacher is really good with her, and I love to visit with her because she has two visually impaired children, so it is good therapy for me as well!
Reese is getting big some of the things she picks up on just amaze me. She can say her ABC's and what sounds they make and words that start with that letter now. Her Grandma Branch gave her flashcards that have the letters and sounds on them and we read them a lot and she has picked up on them so quick!!
Reese is also learning to use her starter cane!! She is so good at getting around with it, and loves to run it into things. We meet with her O&M specialist at the school for the Deaf and Blind twice monthly and they work on her cane skills. Her picture is in the hall of the school using her cane, and they call her their little model child!!
Her other favorite thing that cracks me up lately is she loves to play with her older cousin Miles. Miles loves to play with my cell phone and talks on it and then tells me the cops are coming to take me to jail. So last night Reese picks up my phone and starts talking and says Hi-- the cops are coming!!! Miles and Reese are definately trouble together!!! They love to play!!
Well I will update again when we get our genetic testing results back and hopefully get some new pics posted!

City of Rocks!

Ten Kids, Ten Adults, One Razor, Two Rangers, 6 Four Wheelers, and a Truck pulling a trailer in case of any breakdowns and we're off!!! We had an awesome weekend with my family.

We started at my sisters house in Oakley, Idaho, rode up to the City of Rocks, down to Almo to the Outpost for lunch and up over the top of the mountain back to Oakley. It was about a 60 mile trip and we had an amazing ride. The City of Rocks was great, the kids had fun crawling all over them, and the leaves on the way back were such a pretty yellow!!

Willy and my nephew Brogan ready to head out in the Razor!!

Reese and I on top of the mountain looking into Oakley!!

Willy took this picture of all our ATV's from on top of Bath Rock!! Him my two brother in laws and nephew Will climbed to the top of the rock!!

My FAMILY!!! We had such a great time. Everyone took turns riding together!! No kid wanted to ride with there own parents, Reese and grandma spent the whole day in the Ranger together with different nieces and nephews riding along with them!! It was so much fun to be together, we all get a long so good. Of course all of us girls stayed up until way late talking and laughing!!!



When we got back to Oakley, we stopped at "Robins Pumpkin Patch". It was such a cute place they pulled the kids around on a trailer and let them pick which pumpkin they wanted. It was quite the decision to pick one, since there were over 5000 to choose from!!!

Our First Fundraiser

Last weekend we had our first fundraiser for The Foundation for Retinal Research. My nephews wanted to do have a little booth at Portage Days so we decided to do a bake sale, sell purses and braille bracelets. They did an awesome job raising over $150, and we had a great time doing it. My sister talked me into riding her bike through the parade with my nephew in the wagon tied on behind me!! We had these shirts made that say "Reese's Fight 4 sight Team". We plan to do more fundraisers for FRR in the future with the next possibly being a 5k run in the spring!!

Our new addition KOKO

We decided to get a new addition to our family! My sister gave us this little puppy for Reese and she is super cute!! We asked Reese what she wanted to name it and we gave her a few names to choose from and she kept saying koko, so that is her name!! We had a great Labor Day Holiday, it is my hometown Wellsville's celebration, so we get to spend time with all my family!! We have so much fun, it is by far one of my favorite holidays!!!

Mom and Reese Canes

Today our orientation and mobility specialist came and brought us canes to start using. She left one for Willy and I and one for Reese. By using ours and talking about the bumps and steps we feel with it, Reese will hopefully catch on and want to use hers!! I gave Reese her cane after she left, she picked it up said no and threw it on the ground!!! (what a great start) lol... She is just suppose to play with it and explore right now because she is so young, so I am not too worried about it!! Right now we will mostly use it for stairs. It is so crazy to be starting all this, and the older she gets the harder it is getting to think outside the box of a "visual" world.

"OUR CANES"

Doctors Visit- Gene? No Gene

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!!!!