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…

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Running Out of Senses – Adam Zwan

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.
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The challenge of the simple things – 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.

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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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All Gassed Up – Adam Zwan

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.
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A day in the life – Lauren Gibilisco

Wolfram syndrome patient Lauren GibiliscoThrough 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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The 2014 holiday season was a great one – 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.
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Prayers For My Nephew Jake

Diabetes and NMO haven't gotten Jake Peters down.I am writing this from an airplane on my way home from Southern California after visiting my nephew, Jake, who has been lying motionless in a hospital bed for the last 16 days.

Jake is an unbelievable 17-year old, great baseball player, as well as a type 1 diabetic. He has had diabetes since he was 20 months old. He could not breath the afternoon of December 15th and told his dad he was loosing sensation in his feet. He later collapsed and has been on a ventilator and unable to move his arms and legs since. He was diagnosed with an autoimmune disease called Neuromyelitis Optica (NMO).  NMO is a rare relapsing autoimmune disorder that causes inflammation in the optic nerve and spinal cord.

I went out to California to support my sister and to love on my nephew. Everyone thinks they have problems, I am the first to admit, especially watching my daughter struggle with her Wolfram syndrome. However, when you sit in a hospital room all day and watch your 17-year old nephew lie there limp, unable to move anything, we should all be thankful for the problems we have because someone else always has it worse.

It broke my heart because three of his best friends and teammates came over to see him after baseball practice and they all asked him how he was doing. He mouthed, “I can’t move.”  He should be the one in that uniform worrying about baseball, what he is going to do on Friday night, homework, etc., not wondering if he is ever going to walk again, use his arms or breath on his own. But for now, all we can do is wait, hope and pray.

A Caring Bridge page has been set up for Jake Peters where you can follow along with his story and progress.  We welcome any prayers, thoughts and get well wishes for Jake.  Thank you!

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Merry Christmas Everyone! – Lauren Gibilisco

Photo of Lauren Gibilsco at ChristmasI 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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