It’s the Little Things

Wolfram syndrome patient Raquel Gebel gets insulin pumpWe 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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Living With Wolfram Syndrome – Adam Zwan

All Gassed Up

wolfram syndrome and gas issuesNerve damage caused by Wolfram Syndrome results in many lifelong complications, some minor and others very severe. Eating and drinking has been one of the never ending issues I have struggled with. Regarding food and drink, issues experienced by Wolfram patients consist of glucose fluctuations, mood swings, low tolerance for specific food groups, as well as metabolic problems.

In the past few years, my metabolism has suffered from nerve damage making eating and drinking feel like a chore. My diagnosis is called Gastro Paresis and it is caused by pancreatic and metabolic nerve damage. After the pancreas has experienced nerve damage, the body runs into a deficiency of metoclopramide, which is a pancreatic enzyme that promotes proper contraction in the metabolism. The symptoms I have experienced are gas, bloating, nausea, acid reflux, heart burn, and indigestion. I have been prescribed a metoclopramide pill but unfortunately the symptoms still exist. The purpose of the medication is not to defeat my symptoms but to prevent my metabolism from falling asleep and resulting in a hospital visit due to constipation.

I experience gas, bloating, acid reflux, heart bun, and indigestion each time I have something to eat or drink so eating and drinking is more painful than pleasurable. I know that my circumstances could be better but they could always be worst. I just remind myself to count my blessing and be thankful that I can still chew and swallow because a feeding tube is the next stage.

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Living With Wolfram Syndrome – Lauren Gibilisco

Wolfram syndrome patient Lauren GibiliscoWith Wolfram syndrome, I continue to have problems with my vision.

Through the holidays at work there were Christmas trees up in several of the rooms. When I was passing through one room, I saw a tall shadow and I said hello but no one said anything. So I took my cane and poked at it and realized it was not a person but a tree. How embarrassing!

I told you in my last blog that I was going to ramp up my exercising to lose those holiday pounds. Recently, I was watching TV and there was a commercial about losing weight fast. So of course, it caught my attention. Who wouldn’t want a quick way to lose weight? I listened to it hoping they were going to talk about some new exercise to do, but it was for a “drink product.” As I was listening to it, I realized I was eating a bowl of ice cream. Was this a sign that I was not supposed to eat it? Nope, it tasted too good so I ate it anyway. But afterwards I did a lot of exercising so I wouldn’t feel so guilty.

I have mentioned that living with Wolfram syndrome, I have a lot of trouble with heat intolerance. For the last month we have had temperatures in the low teens with wind chills below zero. I love this time of year. I can just open the upstairs outside door and do my exercises with the cold air keeping me from getting so hot. My family doesn’t appreciate it though. But this week the temperature got up to 50 degrees. I asked my parents if they would turn on the air conditioner. Good thing I couldn’t see the dirty look they gave me. Haha.

I thought I would model one of my new shirts for you all to see. Have a great week everyone.

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We Can Be Like The Big Foundations

Photo of Snow cousins

(Left to Right): My nephew Shane Snow, my son Jack and my nephew Jake Peters

Since my nephew’s diagnosis of Neuromyelitis Optica (NMO) I was curious if there were any foundations representing NMO, after all, this is a rare disease just like Wolfram syndrome.

My sister sent me a link to a foundation called Guthy-Jackson Foundation. When I read about this foundation, I was a little envious of what they had accomplished in six years. They have started clinical trials, have a beautiful website, patient days and even a book written by the mother and daughter who has NMO. My initial reaction was relief for my nephew; there was network out there and in LA of all places where he lives. On the other hand, I was envious. Guthy, yes the famous Guthy-Renker infomercial founder and Jackson, the Victoria Jackson makeup line and infomercial guru are the parents of the child who was diagnosed with this disease. This power couple has an open checkbook to make what needed to happen, happen. People have to understand that in order to discover a drug to stop the progression of a disease and to find a cure, science and research has to take place and that takes millions and millions of dollars. What upsets this “mom on a mission” is that these patients are suffering and dying because of a lack of funding. My goal for 2015 is to find the right donors that can help us get this job done.  It will happen, mark my words…IT WILL HAPPEN.

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Living With Wolfram Syndrome – Adam Zwan

The 2014 holiday season was a great one; lots of food, laughter, and stories of the past. Starting in October and lasting until January celebrating holidays is the thought on everyone’s mind. Celebration events do not occur without some withdrawals, especially for a Wolfram patient.

Beginning with Halloween and finishing with a New Years Day meal the eating is something that always brings my family together. With diabetes, gastro paresis, and low tolerance for fiber eating well takes on a whole new meaning. As a Wolfram patient, times of eating seem more like a chore than an enjoyable event. A Wolfram patient, like me, has to put a lot of time and effort into measuring, avoiding, and denying foods because eating the wrong thing could mean a visit to the hospital. Also, due to my increased sensitivity to insulin, gaining ten or so pounds results in glucose fluctuations. However, thinking about research efforts and searches for a cure help health struggles seem like just an event on the timeline.

Furthermore, my holiday season was filled with stories of life experiences that brought smiles, inspiration, and or jealousy. In my case, jealousy was a common feeling while family members spoke of vacations, relationships, and living independently. I’m 27 years old and listening to stories from family members makes me ask myself whether I have really lived yet. Reason being is that almost all of my stories pertain to health issues, hospital visits, and longing for changes in life. Happily, if research continues and success is achieved then I will be able to tell stories of my vacations, relationships, and independent living. All in all, the 2014 holiday season, minus a few health worries, was a memorable one.

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