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.
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Hello, Hola, Tung, Ciao, Bon Jour!
In honor of the upcoming St. Patrick’s Day holiday. This was me from last year.
Recently I was contacted by someone who works with me. Her nephew’s girlfriend needed to write about someone with a disability. Of course she thought of me. Who better to pick from then someone with more than one disability?
I received a phone call from her and she introduced herself and told me what she needed for the report. I told her I had Wolfram syndrome. Her first questions were at what age I was diagnosed which I said was 12 when I was finally diagnosed with Wolfram syndrome but had diabetes mellitus at age 2, hearing loss age 5, vision loss and diabetes insipidus age 11.
She wanted to know if I had been treated differently by anyone because of my disease. I told her yes. In High School the teachers were great and made accommodations that I needed. I only had a few friends in high school. A lot of kids thought I was faking. They were nice to me but only a few went out of their way to help me. No one offered me rides home and to go shopping or to go to school activities. I was home alone a lot. You see my disabilities weren’t VISIBLE. They didn’t know how much was wrong with me because all the problems were inside of me. If I had lost a leg then people can see and will help you. They didn’t know all my problems with choking, ataxia, heat intolerance, seizures, fatigue, bladder issues, hearing loss, vision loss, etc. All of these problems at that time were invisible. Then in college I didn’t start using my cane until my last year. It wasn’t that I couldn’t see some but had become adept at counting doors, counting steps and feeling my way around. My Human Service Director thought I was even faking because I could do things so easily. I was able to have my text books downloaded and had computer software then read me the words. In spite of my disabilities I was able to have been ranked 8th in my high school and was a member of Phi Theta Kappa in college.
I told her about the lack of research when I was first diagnosed and now how much research is being done in St. Louis with Dr. Fumi and his team. When I was diagnosed there was very little written about Wolfram syndrome. My mom spent hours on the computer researching it and was able with another Wolfram parent to start the very first web page with a support group. It was how we were able to meet more people. I also told her that now I have several friends from all over the world. They are in England, Spain, Switzerland and Italy, Canada, Australia and of course the US. What is great is that I can actually see them and talk with them through Skype. It is fun talking to them although their accents sometimes make it difficult to hear. I also told her about the Snow Foundation and my blogs on their website so she could read them and get a better feel of who I am.
I told her of my desire to be a cop but I didn’t think they would give me a car or gun since I am blind. When I was younger I had different dreams for myself but sometimes you have to change your dreams to fit life.
She asked me how I am doing now in my life. I said “As far as I see”, I am doing well. Haha.
Goodbye, Adios, Tung, Ciao, Au Revoir
How to Avoid Trigger Foods
Portion distortion is one of the many reasons for the rapid increase in obesity among individuals in the United States. One category of food that people tend to splurge on is called trigger food. Trigger foods are those that individuals go to when they are multi-tasking. For example, while watching a movie, reading a book, working on a computer, or studying for an exam a person may have a snack item at their side and by the time he or she pays attention the entire bag has been eaten. Depending on a person and their taste buds, trigger food may include chips, candy, popcorn, trail mix, cheese cubes, and list goes on.
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Last week, in honor of Rare Disease Day, the Snow Foundation was interviewed by the St. Louis ABC affiliate, KDNL ABC 30.
The story focused on Stephanie Gebel and her fight for a cure for Wolfram syndrome and to revolutionize the diabetic world. Here is the story featured on the Jamie Allman Show.
I have been feeling pretty well. But the last few weeks my toes have hurt on one foot. I think it is from overdoing it on the exercise. I exercise whenever I’m bored so I exercise a lot. My mom told me to take it easy on the exercise until my foot stopped hurting. So now I have been a little more bored, if that is possible, because I’m not exercising as much. Oh well, that just means I get to talk more which drives my mom nuts. Ha-ha.
A couple of weeks ago we got a lot of snow here although not as much as the Boston area. We got 18 inches of snow with winds blowing 40 miles an hour and wind chills 20 below zero. That morning my dad was putting the snow blower into the back of the truck to take to the store and he slipped on ice and broke his arm. He just had surgery on Friday. They couldn’t do it any sooner because of the swelling. He broke his right arm so he can’t do much. I feel very bad for him and keep praying that it will heal soon.
I’ve had to help my dad button his shirt, put on his socks, open the pop up and open up containers with his pills in them. The only thing he is able to do with his arm is to write if possible. Other than that he cannot use it at all. It was a very bad break and they had to order a special plate and screws to fix it up. So the doctors were very clear to him that he could do NOTHING with it.
So thanks to him I’ve got a new job to do. I don’t mind it at all. It gives me something to do. It also gives me someone else to talk to. I feel very useful and I haven’t felt like this in a long time. I like feeling this way. It makes me feel good to help someone else.
There is one more thing my dad needs help doing, and that’s driving. Now I tell everyone that I am his new driver. Ha-ha. (Not too bad for someone living with wolfram syndrome.)
My uncle was the head baseball coach at Tulane University for a little more than 20 years and he, my aunt and I attended the Tulane alumni event in New Orleans, LA. When I was younger I used to be the equipment manager for the Rick Jones Tulane Baseball camp every summer for about 12 years. Thus, I got to know the players, coaches, and several alumni in previous years that also attended the 2015 Tulane alumni event. I had a fantastic time but simultaneously I felt like a man surrounded by worry.
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Me and fellow Wolfram syndrome families from Italy along with Dr. Urano.
I attended my 3rd Wolfram symposium held in Paris France this past week. I brought along with me my sweet daughter Raquel and our babysitter, Kat Broom. I felt it was important to let Raquel experience Paris before she completely loses all of her eyesight. As of now, she is considered legally blind.
I am usually invited to the Paris Wolfram symposium because I represent a foundation from the United States that has been raising money to help fund Wolfram syndrome research. This research will ultimately lead to a drug therapy.
The meeting is comprised of researchers, scientists and doctors who discuss their discoveries over the last 18 months. Half of the information that was shared was way over my head. Towards the end of the meeting I decided to be brave and speak up. I shared my feelings that although all their studies on various aspects of Wolframs are important, we need to discover drug therapies to stop the progression of this disease. (I had to back pedal a little and re-state my words because I came across a little harsh and straight to the point. For those of you who really know me, that would not surprise you).
Raquel lighting at candle for her cousin Jake at one of the beautiful Paris cathedrals.
This whole ordeal is a slow process, I understand, but as a mother who has to continually watch her child suffer because of this disease, I feel like we are going at a snails pace. I had a couple individuals speak their mind as well, and it was not in my favor. I held my own though, with the exception of breaking out in a rash on my neck and chest because of my nerves. I made it very clear that these children and young adults do not have time to wait. If the money is being raised, lets hit this and hit it fast. My goal when I return to Paris (which will be in another 18 months) is that I will be able to let all these individuals know that my previous comment about going to slow was just what they needed to hear. You can have all the brilliance of M.D.s, Ph.D.’s, scientists etc. but never, I say never go up against a MOM! You are not going to win…
Wolfram Syndrome patients, like me, suffer from optic atrophy and deafness. It’s a belief that deaf and blind individuals rely on their other senses to experience life. A great example is Helen Keller because she had to depend on taste, smell, and touch to accomplish all of her lifetime endeavors. Unfortunately, vision and hearing are not the only senses that Wolfram patients struggle with.
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Sometimes it’s doing the simple things in life that someone with Wolfram syndrome has trouble doing.
One morning last week my mom was going to work and she was going to drop me off at work. We were heading out the door when she remembered she didn’t put back on her wedding rings. She went into the office where she took them off last night. Well, they weren’t there. She then went into the kitchen to see if she had taken them off there. They weren’t there. Now she was starting to get frantic. She checked in the living room, the bathroom and the bedroom. They were not to be found. All this time I hear her rushing back and forth. So what could I do? Absolutely nothing. If I tried to help her look I would probably knock something off a counter and it would break and I would just cause her more problems. I felt so bad that I couldn’t help her. So I sat there and did the only thing that I could do. I started praying. I prayed to St. Anthony who is the patron saint of lost things. I asked for his help in helping my mom find her rings. She kept saying I know I took them off in the office. She sat in the office chair just feeling devastated. She looked around closely to everything in the room and finally said “I know where they are.” She then picked up a bottle of jewelry cleaner. Last night she put them in the solution to clean the rings. My mom was so happy now. I just whispered my thanks to St. Anthony.
I get really bored at home. My mom told me my sister was going out of town for several days and we get to keep Emmy, her dog. We were going to pick her up on Friday. That week I worked on Wednesday and Thursday. I was so excited to get her. Riding home my mom asked me if I wanted to hold her. I really wanted to but I was just so tired I had to sleep on the ride home. Then when we got home that night and I was still so tired that I had to go to bed right after supper. I still had Saturday and Sunday to enjoy her. Unfortunately they were no better. I was still tired and although I played with her some I couldn’t really enjoy her because of my fatigue. But there was one thing I could do that really helped out. Emmy is a very good dog and obeys commands except for when you say “come.” She thinks it’s a game and goes running around. Both my mom and dad have so much trouble catching her to put her in the kennel. I wish I could see what they look like but I can imagine from hearing them running around so out of breath. She will never let them catch her. So my mom yelled at me to sit down and call for Emmy. So I sat down and said “Emmy come here.” Emmy walked over to me and sat in my lap and I was able to pick her up so we could get her in the kennel. Emmy has always been that way for me. It’s like she knows I can’t see her so she makes it easy for me to get her. They always say dogs can sense things. So sometimes I guess it’s a blessing to be blind.
We went to Children’s Hospital today and Raquel was more excited this time than previous visits.
She was getting her Omni Pod (Insulin Pump). Her blood sugars have been all over the place, which is not a good thing. When her sugars are high or low they can affect her vision, moods and appetite. Did I mention, MOODS? This little girl is one of the sweetest kids, but let me tell you, if she is really high or really low, her head will spin and green foam will come out of her mouth.
Putting on the Omni Pod was a bit tricky at first and a little scary for us all. With the apprehension also comes a bit of relief because Raquel’s blood sugars should become more stable. For Raquel, she is the most excited because she can start to spend the night at some of her friends houses now. Before she would have to get insulin shots at dinner and right before bed, not to many parents are keen on having to give insulin shots. It is the little things in life that we all take for granted, like sleepovers. These are the little things that really make Raquel happy.
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