Living With Wolfram Syndrome – Lauren Gibilisco

Lauren to the Rescue

images-1I 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.)

Living With Wolfram Syndrome – Adam Zwan

flyinointmentFly in the Ointment

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.

Between glucose levels, food availability, catheterization, and Gastro Paresis there was always a question and or worry in the air. I was asked every hour how I was feeling and what my glucose is. Each day and night the meals occurred at the same time to the minute making sure I do not cause any problem because I strayed off from my routine. Like usual, restaurant choices and food offering were analyzed prior to dinning so that I did not run into issues with my digestive system. Each night my aunt was adamant about having peanut butter, orange juice and crackers on standby in case hypoglycemia occurred. Before attending the alumni baseball game my aunt pointed out that she was bringing her purse packed with peanut butter crackers, orange juice, protein bars, and bottled water; I made her fall out laughing when I said “let’s forget sitting in the stands and just tailgate in the parking lot.”

All in all, I had a wonderful time talking, laughing, and seeing faces I have not seen in many years. Even though I felt like a fly in the ointment and Mardi Gras was taking place, which made it a little tough to get around, I had the time of my life and would relive it just the same.

5th Annual Run to Beat Wolfram Syndrome

Run to beat Wolfram syndrome

Alejandro “getting a lift” from his fellow teammates.

On Sunday, March 22, 2015 Team Alejandro participated in the Oakland Running Festival in the 5TH Annual Run to Beat Wolfram Syndrome! The team raised over $10,000 for Wolfram syndrome research.

Team Alejandro ran in support of 11 year-old Alejandro and of all children affected by Wolfram Syndrome. Donations went to support research at Washington University School of Medicine which is fast advancing potential treatments to slow the progression of the disease and to ultimately find a cure.

Thanks to all that supported the team for the 5th year in a row!

A Mom’s Take On The Paris Wolfram Symposium

Stephanie Snow Gebel at Paris Wolfram symposium

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 Gebel at Paris Wolfram symposium

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…

Living With Wolfram Syndrome – Adam Zwan

Running Out of Senses

Image of 5 SensesWolfram 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.

In my case, I have lost most of my sense of taste and smell so those are two areas I cannot rely on to live a daily routine. As far as food and drinks go, it’s not really the taste that helps me distinguish what’s for dinner but the texture. When I cook a meal I use seasonings not to change the taste of my food but to create a crispy coating that satisfies my mouth with a crunchy texture. When it comes to drinks, I’m not able to acknowledge how sweet, salty, or spicy a beverage is but how silky, smooth, or grainy it feels on the tongue.

My sense of smell is even weaker than my sense of taste but I try to think of it as an advantage in some cases. Sometimes when I am preparing some food for myself there is an aroma that everyone except for me can sense. Whether I am burning my food to give it a crispy texture or I am gathering roses for Valentine’s Day my sense of smell makes no difference. On a lighter note, I am thankful I can’t smell after my father eats Mexican food and or a person smells like he or she works in a perfume factory. If I live past the life expectancy of 28-31 years-old there is a chance that Wolfram nerve damage will spread to my brain stem and result in paralysis, which would end my sense of touch. Again, it is unfortunate that I cannot rely on any of my senses except for touch but I make it through the day by reminding myself of every positive factor associated with Wolfram Syndrome, like not being able to smell rotten eggs on Easter.

Living With Wolfram Syndrome – Lauren Gibilisco

Wolfram syndrome patient Lauren GibiliscoSometimes 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.