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Living With Wolfram Syndrome – Lauren Gibilisco

Photo of Lauren Gibilsco at ChristmasMerry Christmas Everyone!

I dressed up in a Santa hat and wore a bell when I went to work. The bell jingling as I walked down the hall warned my fellow employees that I was coming. My bosses liked this because then they knew where to find me.

But this gave me an idea. I was going to have to be home by myself with my sisters dog Emmy for a few hours. I worried that I wouldn’t be able to know where she was. She is very nosy and likes to get into everything. She even unwrapped some of my sisters presents at home. We of course needed to get Emmy some toys for her first Christmas. While we were looking around I came up with the idea to get bells to put on Emmy so I would know where she was. My mom found a Santa collar with 3 bells on it that we could put on her. This worked great as I was able to hear where she was. Sometimes you have to be creative and come up with solutions to problems.

I had a very nice Christmas. On Christmas Eve it was just our family and that was nice because it was quiet so we could talk and hear each other. We opened our presents that night. I received 8 new tops, some for dress and some for casual. My mom and sister picked them out. It is the only way I can stay current with fashion. I rely on them to tell me if is really looks good on me or not. They did get me two long sleeve shirts but the material was very light and thin so even with my heat intolerance I shouldn’t have problems wearing them.

The next day on Christmas we went to Church and then up to Omaha to see my mom’s side of the family. My mom had to take me up to the table and tell me what desserts there were for me to try. She has to tell me because I can’t smell them and barely taste them. My tests from St. Louis reported I have no sense of smell anymore. Since it is Christmas time I am going to indulge myself with a few sweets. In order to do this I will need to ramp up my exercise routine and work off those extra sugars and calories. I am not familiar with my aunt’s house. I went to use the restroom and thought I was walking straight but instead ran into the door. Luckily I didn’t hit the door too hard. The only sad part of the party was that my grandparents were not able to come. They were both very sick from Influenza and they couldn’t come and we couldn’t visit them. But I was able to talk with them on the phone.

Of course I was keeping the true meaning of Christmas in my heart.

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Living With Wolfram Syndrome – Lauren Gibilisco

Wolfram syndrome patient, Lauren GibiliscoAs I mentioned previously, I had a test done for my oxygen levels over night. I am happy to say they are normal.

I was dreading the thought of having to use a cpap during the night. I did do as the doctor instructed and started taking Vitamin B. Although I still do sleep a lot at night, I am only taking one nap a day instead of 3. That is a big improvement and I think it means I am also sleeping better at night.

When I first went to go to the hospital to get the oxygen machine, the nurse was showing me how it worked. It didn’t take long and I told her I had a rare disease, Wolfram syndrome, that only one person in 500,000 develop. Then she said enthusiastically “oh, can I shake your hand? I have never met a rare person.” I told her she would probably never meet another one like me in which my mother replied “thank God.”

I had a wonderful Thanksgiving Day. Most of my family was able to come down to our house. It’s hard to get everyone together. My cousin had just returned from his second tour of Afghanistan. We all were very thankful to have him with us.

It was hard to hear though. Too many people in one room. Too much noise for someone with hearing aids. I really couldn’t hear the conversations so I just sat there just enjoying their presence. I also had real trouble tasting what I was eating. Sometimes I really did not know what I was chewing. I can’t see it and have trouble tasting it or smelling it so I rely on my memory of what that food tasted like. That is one thing I really missed. Getting up in the morning on Thanksgiving Day and smelling the turkey.

But as I said, the most important thing was being very thankful and having most of my family with me that day. My grandparents are getting old so I treasure every minute with him. I really enjoyed spending time with my cousins and aunts and of course, with my family. My sister brought along her puppy Emmy and I was very thankful for that. I really, really enjoy playing with her.

I hope you all had a very nice Thanksgiving. We all have so much to be thankful for.

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Living With Wolfram Syndrome – Adam Zwan

Health Glitches

Thanksgiving 2014 was a fun filled day of food, family and laughter. The meal felt like a Golden CorralWhat a person with Wolfram syndrome cannot eat buffet without the Golden Corral. Thanksgiving used to be a favorite holiday of mine but due to Wolfram Syndrome it has become my least favorite. The family getting together and enjoying one another is a great event but the food is another story.

Before Wolframs and its complications took a toll, I could enjoy splurging a little and try each dish that was served. However, this year was low carbohydrate and low sugar for diabetes as well as low fat and low fiber for gastroparesis. When the feast was prepared and served buffet style, family members piled up plates of turkey, ham, pork tenderloin, casseroles, dressings, and stuffing. Finally it was my turn to say turkey breast please and……ok, turkey again please. The feast ended with cakes, pies, and puddings. I went against my morals and had a sugar free cheesecake cupcake. The smiling, laughing, moaning, and groaning made the holiday even more memorable. Two hours later did not occur as pleasant for me.

Later in the day, while family members were sprawled out in the den, my stomach decided to empty its contents and spike my sugar. With the little bit of food I ate my metabolism slowed down and held on to everything I consumed. Gastroparesis is a fancy term for delayed stomach emptying, so after my insulin did it’s, work my stomach empties without any insulin to combat the contents. This glucose spike lasted through the night and was finished by Black Friday. On a lighter note, anytime glitches in health occur, I just read successful research blog entries by Dr. Urano to give myself hope for the future.

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Living With Wolfram Syndrome – Adam Zwan

Eye see you…no I don’t! Vision Loss and Wolfram Syndrome

Photo of Adam ZwanOne of the many struggles a Wolfram Syndrome patient will experience, is vision loss. As a young man going through grade school, I noticed my vision quickly getting worse. In a classroom amongst individuals my age, I stood out from the crowd by always sitting in the front row, squinting to see the chalkboard, and having to get close and personal with any reading material. Before being diagnosed with Wolfram Syndrome, doctors were unable to properly treat and diagnosed my visual difficulty.

After grade school, I made it to college where I learned that there are avenues of help; large font textbooks, note takers, and CCTVs for magnifying materials at home. I was grateful for all the help provided by Vocational Rehab and disability resources at school. However, a few months after graduation, my vision continued to deteriorate and resulted in me having to hang up my car keys. I have been told that a driver assist technology is under way and will be marketed in a few years. Let’s hope.

At age 27 I feel a little amputated because I cannot transport myself independently to work, the grocery store, social events, or doctor appointments. Although visual struggles are a part of my life, I know things could be worse. I just tell myself that vision loss is nothing to be ashamed of; it’s just not something worth bragging about on the first date.

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Living With Wolfram Syndrome – Adam Zwan

Chasing the Numbers

Adam Zwan struggles with his glucose levels.Wolfram syndrome makes it more difficult to treat and control all other more common illnesses. A Wolfram patient has to deal with diabetes, kidney failure, optic atrophy, and deafness but all these conditions are further complicated due to Wolfram syndrome. Currently, one of the most troubling tasks in my life is trying my best to control diabetes.

In simplest terms it is called chasing the numbers; these numbers represent glucose readings. Wolfram syndrome has increased my sensitivity to insulin and as a result, causes me to require less insulin to combat food and high glucose readings. On the other side, I have developed gastro paresis, which is a fancy term for delayed stomach emptying. There have been many cases where regardless of what I eat my glucose level is uncontrollable.

With all the complications due to Wolframs, any time I swallow something it is an uphill battle. My increased sensitivity to insulin causes an immediate drop in glucose level after taking insulin to combat carbohydrates. Hours after eating, a jump in glucose level occurs because my stomach has finally emptied the food I ate sometimes 15 hours earlier. These glucose fluctuations may be difficult and frustrating to deal with but I’m just thankful that I can still eat food and not depend on a feeding tube.

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Living With Wolfram Syndrome – Lauren Gibilisco

Photo of Lauren Gibilisco

Lauren Gibilisco

Last week I visited my neurologist.  He asked how I have been feeling.  I told him that I have been feeling fine but I am very tired.  I sleep 12 hours at night and I take two hour naps a day.  He said maybe my problem is that I am sleeping too much which can cause you to feel tired.  I told him that I cannot stay awake.

He asked what I do during the day and suggested that I do more activities.  I told him I do exercise a lot all through the day.  He asked what type of exercises I do.  He said it was important to get my heart rate up during exercise.  I told him I can’t do that.  Because of my heat intolerance I can only do short bursts of exercise throughout the day.  He asked what else I do.  I told him I watch movies but I get tired of watching the same thing over and over again.  It does me no good to watch a new one because I can’t see what is happening. 

I told him I like listening to music and dance around but again I can’t do it for long because I get hot.  He told me to take a walk outside.  But again I told him I can’t because I have to have someone to guide me along because of my ataxia. I can’t walk straight and get lost real easily. He said I needed more brain stimulation.  He asked do you do braille?  I told him I did learn but because of my neuropathy in my fingers from poking them for blood sugars for 26 years, it makes it very difficult.  I read very very slowly and put myself asleep waiting for the next word.  LOL.  He suggested I walk on the treadmill slowly and for a longer time and try to work up my endurance.  And lastly he suggested taking Vitamin B12 every day. With all my health problems I could easily be deficient. He also wanted me to test my oxygen saturation levels wearing a clip on my finger for 24 hours.  I’m going to get that done tomorrow so I can tell you the test results next week. 

At that point he scooted back and said “you are a challenging patient.”  I told him “thank you very much.”  He laughed and I said “I enjoy being different.”

This should tell everyone how different we WS people are.  I can’t stay awake and Adam wrote in his blog last week that he can’t get to sleep. We should switch for a day then he could get some sleep and I could stay awake. 

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Living With Wolfram Syndrome – Adam Zwan

Tired But Can’t Sleep

Image of sleeping manHave you ever experienced full body exhaustion but cannot fall asleep?  Fellow Wolfram syndrome patients may know exactly what I am talking about.  A snapshot of this sleepless exhaustion is lying in bed with a severe case of yawning while closing the eyes as tight as possible wishing for at least a few minutes of sleep. 

It has been suggested that I participate in a sleep study so that some solutions to restless nights of sleep can be developed.  However, part of my problem is not only the sleep patterns but the health issues I struggle with.  Due to Wolfram syndrome, I have to wake up each night to catheterize relieving discomfort, wake up every two hours to check my glucose, and try to relax a cold body that sometimes deals with shivering.  As always, it is not simply solved with one thing like sleep medication but bigger helping hands like an accurate continuous glucose monitor (CGM).  Something like a Dexcom CGM would relieve my body from having to wake up every two hours and relieve my alarm clock from mandatory overtime.  The only thing allowing me to continue daily routines is a 20 minute power nap every day.  It may be possible to obtain a Dexcom sensor in the future but until that day arrives I will continue going to bed each night eagerly awaiting the 5:00 A.M. alarm signaling that it is gym time.

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Living With Wolfram Syndrome – Lauren Gibilisco

Photo of Lauren GibiliscoWell I managed to drive my mom nuts this week.  I have many items in my house that talk to me so I can function better.  But this week my watch stopped working. 

It was a talking watch.  Without it I have trouble knowing what time it is.  Time is important in our lives.  We need to know when to give shots or medicines. We need to know what time it is to eat or even what time it is to take a nap or go to bed. Our lives revolve around the clock.  So all throughout the day, I constantly asked my mom “what time is it?” It was a long week for her until my new watch arrived. 

When I went to my volunteer job this week I bumped into someone in an office.  It was someone else’s office so I didn’t know who it was.  That person said you still don’t have my voice memorized yet. She told me she was Barb.  When my parents owned their grocery store I had trouble always remembering voices especially because I have hearing loss.  I came up with an idea to always say hello and they would have a name made up that started with their first initial.  For example, Brianne would come up to me and say “hello Bambi.”  Well when I told Barb about that idea I told her to make up a word starting with “B”.  She said “I’m not going to call you that Lauren.” Everyone including myself burst out laughing.  I said “that didn’t occur to me.”  She said she would call me “beautiful” but I told her “brat” sounded more appropriate.  Going along with this theme, I was talking to a friend of my moms.  She asked if I was going to dress up for Halloween. I told her no.  She said “come on, you could dress like a princess and your mom could dress up like a witch.” I told her jokingly “she doesn’t need a costume for that.”

One of my mom’s friends hated thinking of me home alone in our house all the time.  I have no friends in this area.  So she decided that every other Friday she would come get me and we would go to lunch or dinner together.  She has known me since I was 5 years old.  I bet she thinks it is no big deal, she enjoys herself.  But to me it is a huge deal.  It gives me something to look forward to every other week.  It gets me out of the house.  It gives me someone other than my mom to talk to.  So look around, you may see someone who needs a little help.  You might think it was nothing but you might have made that person’s day a lot more happier.

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Living With Wolfram Syndrome – Adam Zwan

Counting My Blessings

AdamHave you ever seen the movie Jack?  In case you have not, Robin Williams (Jack) is the lead character who has a rare condition causing him to age three times as fast on the exterior.  This is a good comparison when speaking of Wolfram Syndrome because as a 27 year old Wolfram patient I am, quote unquote, about 90 years old internally.  Thus, it is like living the life of Jack but inside out. 

The rapid aging and deterioration of my central nervous system has resulted in many health complications that usually occur later in life.  These health complications I am troubled with are prevalent in the lives of almost all Wolfram patients beginning at birth.  In my own lifetime, I have experienced Diabetes, chronic kidney failure, decreased vision, decreased hearing, loss of taste, loss of smell, and a weakened immune system making me more vulnerable to the everyday free radicals.  My aging central nervous system is probably why I can relate so well to elderly individuals; conversations always contain “yes sir, been there, done that”, and “yes, I have that problem too.” 

Wolfram may cut my life short but it just reminds me to be thankful for what I do have and count my blessings.  Not being bed ridden, still having brain activity and still being able to use my legs and arms makes me realize that Wolfram syndrome may be a tough bullet to chew but things could always be worse.  So long as the Wolfram research and the Snow Foundation are doing well, I choose to keep fighting and hoping for new developments. 

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Living With Wolfram Syndrome – Lauren Gibilisco

I mentioned last week about feeling like a prisoner in my own home. Let me explain it a little further.

Photo of Lauren Gibilisco

Lauren Gibilisco

This is what it is like for me day to day in my own home. During the summer in Nebraska it is very warm here. I cannot be outside long if it is above 70 degrees. So in the summer I am pretty much stuck in the house. But the same thing goes inside the house. I need the temperature to be no higher than 65 degrees in the house. This is what is comfortable for me but it freezes my Mom and Dad. I also feel bad because it makes our air conditioning bill so high. Any hotter and I have trouble sleeping and exercising. I love to exercise but I can only do it a little at a time because I get so overheated. So, when I am home I either just exercise or watch TV. I only watch what I have seen before because I know what they are saying and doing. But, unfortunately it becomes a little boring watching the same shows over and over again.

Last week I was able to leave the house and go to an outside wedding. There was a nice breeze and it was a little above 70. I was able to enjoy the wedding because I was just standing there. I could only stay for about an hour though because I began to get overheated.

The winter time is a little better for me. I am able to exercise more and go outside to chill out if I become too overheated. It used to be that it was hard going outside if there was snow on the ground. Everything was white and I couldn’t see where anything was, like the sidewalk or street. Now my vision has gotten so much worse so it doesn’t really matter anymore.

I do not say these things for pity or to depress anyone. These are just the cold hard facts of living daily with Wolfram Syndrome. So that is why I sometimes feel like a prisoner in my own house. But I wouldn’t change anything. This is who I am and I love being who I am. So if you ever see anyone outside in the winter wearing only a T­-shirt and shorts, don’t worry it’s just me.

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