Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.
My whole life has revolved around health status and trying to control the progression of Wolfram syndrome. Even though the harder I try, the more difficult it seems to get. I decided to take a big chance and try living on my own. It has been made clear to me that everyone around me worries regardless of the circumstances. Thus, worrying will continue the rest of my life so I must make a change and do something for myself. Read more
I’ve had a few incidences lately due to not being able to see.
The first one was when we went to Olive Garden to eat. When they took us to the table my mom told me it was a booth so I needed to scoot down. So I kept scooting expecting to run into a wall but instead I almost sat right on this ladies lap that was beside me. My mom forgot to tell me it was an open booth so there people on both sides of us. Of course once again I was embarrassed and promptly told the lady that I was very, very sorry. I told her I was blind and she said that’s ok, she was fine.
If I haven’t told you, I shred paper for our local telecommunication center. Who better to do it than someone who can’t see what’s on the confidential papers. So one day I went to get someone’s shredding and I couldn’t find it. Usually they put it in front of me. But this girl didn’t get up to put it in front of me and proceeded to tell me that it was over there. I turned a few times and she kept saying over there, over there until I found it. Once I got it I turned to her and said, “Were you pointing your finger?” She said “yes, it’s just habit.” Then they all started laughing because she knew that I couldn’t see. It just a habit to point to people when they are looking for something forgetting a blind person can’t see them pointing.
I was always colorblind but now I can’t even see colors. It is pretty much just light and dark but mostly dark. I have trouble knowing if a light in the house is on or off during the day because of the sunlight coming through. My mom and I went shopping and she ran into some really cute clothes that she thought my sister would like. She turned to me and said “isn’t this cute?” Of course she knew what she said but then she said sadly that I really wish you could see. It’s just like a right of passage that a mother and daughter could go shopping together and have a fun time looking at clothes. It doesn’t bother me much but it really bothers my mom.
My mom works hard during the week. On the weekends she tries to get some projects done. A couple of weekends ago she needed to paint the garage door. Of course it was a very hot day. Temps were in the high 90’s. I really wanted to help my mom out. I like being able to do things for my mom. So I asked her if I could help. She struggled to find the right words to say to me. She said “I really wish you could but for one it’s too hot for you to be outside and that she really was worried I would get more paint on the driveway than on the door.” Lol. She was probably right. So I went back into the house feeling like a prisoner in my own home.
Last year my sister came up with a great idea for a Christmas present. It’s hard to get something for someone who is blind. She got tickets for us to go to Mannheim Steamroller.
I thought this was a great idea because I could hear the music and they were going to play some Christmas songs which I love. The morning of the event, it started to snow. By evening it was a blizzard and the event got cancelled. My sister was very sad that we had to miss the show.
After Christmas she heard that the Lion King Musical was being performed in Omaha which is where she lives. So she got tickets for us to go to that. Again, I can’t see the stage but I could enjoy the music and I would know what was going on because I had seen it many times when I still had vision. We got all dressed up and went out to dinner and then to the show. We forgot to get my handicap sticker so we had to walk several blocks and it was very cold and windy. We arrived there just before it was to start. My sister handed the tickets in and was informed that it was for the following night and I had other plans. So my sister took a friend with her the next night. She was very disappointed again that she was unable to give me my Christmas present.
This April she was given tickets to see the Cinderella Musical. It is in the theater in Omaha again. She called me up and told me that we were going to go to this since the last two events didn’t take place. This time we got there on the right night and sat down to listen to the music and singing. Cinderella was a favorite of mine. Again I couldn’t see the stage but I could hear the music and would know what was going on from what they were singing. So the lights went down and the singing started. My sister and I looked at each other….they were singing in Italian. We couldn’t understand a word they were saying. We did enjoy the music and spending time with each other. When we left the musical, my sister said “never again are we doing this.” After three times it was apparent that this just wasn’t the great Christmas present she imagined.
The next night we were watching a movie at her apartment. She turned to me and asked “Lauren, is it too dark in here for you?” I guess from the stunned look on my face she realized what she had just said to me. We rolled on the ground laughing at that one.
The moral of the story is that I have the best sister in the world.
http://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svg00The Snow Foundationhttp://thesnowfoundation.org/wp-content/uploads/2019/06/snow-foundation_logo.svgThe Snow Foundation2014-06-08 12:00:432024-11-03 12:06:10I Have The Best Sister In The World – By Lauren Gibilisco
I’ve had a few incidences lately due to not being able to see.
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