Tag Archive for: living with wolfram syndrome

You’ve Got To Have Hope

Jack GebelLast Saturday was my 7-year old son Jack’s first football game.

The whole family went, including my brother J.T.’s 16-yr old son Shane who was visiting from San Francisco. We were all excited to go and watch these miniature NFL athletes. Raquel said to me, “mom why do I have to go, I can’t even see anything. Please let me stay home and I will play on my Ipad.” It was the first time that I noticed that for the last year I had been enabling this kind of behavior. I was not putting my foot down, telling her that she needs to get outside, enjoy everything around her, even if she can only hear the sounds, it is still worth it! A little tough love was thrown her way and she ended up going.

That event brought me to today. I had to make numerous calls to Raquel’s low vision specialists and vision rehabilitation services at her school, calls that a parent does not want to make. Raquel’s eyesight has dropped 3 lines in the last 6 months. One of her teachers even told me on the phone today, “I waved to Raquel and she didn’t wave back and she was not that far from me. Has her vision gotten worse?” It is the beginning of school and as a mom the only calls you want to make are simple ones: “Hey I need to pick Raquel up at back pick up, or what time do I need to volunteer”, not calls like “we need to discuss how my child is going to adapt in her classroom because she can’t see farther than 8 feet in front of her.” As I sit and write this blog, tears fill my eyes and my heart sinks to the pit of my stomach. My child is going blind and there is not a damn thing I can do about it (at least not in the present moment). I want to feel sorry for myself that my child is not like everyone else. This situation stinks and I want to go bury my head in a pillow and cry and cry until I can’t cry anymore. But then, I get that little nudge inside, whether it is God, my parents or my angel telling me, “don’t give up, make due in the moment and fight like hell for this child”, and that is exactly what I am going to do. I may have tears now, but I have hope. Hope that the Snow foundation will make a difference in Raquel’s life and the lives of other children that have to endure these hardships and that hope my friends, is what keeps me going.

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A Day In The Life of a Wolfram Syndrome Mom

Honestly, until last year, I have felt very blessed to be a dedicated wife and mother of four unbelievable children.

Stephanie and Raquel GebelMy brother, J.T. Snow, and I started a foundation in order to help raise money and awareness for a disease that few people knew about.  Without the Snow Foundation raising money for Washington University School of Medicine, a cure for Wolfram syndrome was going to disappear and there would be no “hope” for my daughter Raquel to live a normal life, a life that she so deserves!

Raquel was diagnosed with Type 1 Diabetes in late 2010 and up to this point all she has had to handle was insulin shots and keeping her blood sugars stable, a few accidents of bed wetting, but other than that, everything was manageable.  I have observed other Wolfram patients at the clinics the last 4 years and I always felt blessed because she could see, hear and control her bladder relatively well compared to the other patients.  Well, things have taken a turn for the worst the last year and I haven’t really wanted to write about it because I have been a bit in denial, I always told myself “this will not happen to my child, she will have “slow” progressing Wolfram.”  Unfortunately, this is not the case, not the case at all.

My journey this past year has been an interesting one, life altering, really life altering, and I hope to share some of my trials and tribulations that I have encountered since the diagnosis of my child. The experiences I have encountered as a wife, a mom and a president and co-founder of a Foundation, have been overwhelming on so many different levels, it has been an interesting ride so far. Lets just say, now I need to put on my seat belt, it is going to be a bumpy ride!

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Long Time No See

I had a great week. I just returned from the Wolfram Clinic in St. Louis. This is my 5th year going to the clinic. I am going to tell you the difficulties I had of hearing and seeing.

Photo of Dr. Urano and Lauren Gibilisco

Dr. Urano and me at my 5th Wolfram Clinic.

The first night we had orientation. We were to go to different stations to sign papers and collect supplies. I sat at Dr. Urano’s table and chatted for a while. After we left I said to my mom “does he have an accent and where is he from? “My mom told me he was Japanese. This is the 5th year of seeing him and I never knew he was Japanese. We had a good laugh over that.  It is very difficult to have someone come up to you that you can’t see and can hardly hear. As we went from table to table I greeted the doctors with “long time no see.” I wanted to see how many of them would catch it.

In my appointment with the audiologist I had to listen for beeps, repeat words and sentences. My first sentence was “the cat is sitting on the bed.” I repeated “the cat is shitting on the bed.” I asked her if that sentence was what she said. She could hardly answer me because she was laughing so hard. She said I gave her the laugh for the day.

One day we took the trolley to go explore Forest Park. It was very difficult getting up into the trolley. There were two steep steps I had to go up and making sure I didn’t fall off the curb. I made it onto the trolley and had to get to my seat. Again I had to step up to get there. I grabbed for the seat in front of me but instead I grabbed the hair of the lady in front of me. I was mortified and apologized to the lady and my mom did also. She said “she was fine.” We all had a good laugh over that.

I realized how the information that the doctors get from us will one day lead to a cure. Dr. Urano is creating new eye cells right now that may greatly help or reverse eyesight. The clinics are great.  It is so nice seeing all the people there each year. We feel like a family. But all the testing and blood samples may one day help stop or cure Wolfram Syndrome. I for one am so happy to be a part of this and to be a part of the cure. What better way to help others out.

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Strange Truth – Adam Zwan

Photo of Adam Zwan

Adam Zwan

Do you live a risky life or do you fly straight and narrow? After being diagnosed with Wolfram Syndrome I began paying close attention to my surroundings and the lives of others. Strangely, it became clear that individuals who live life without taking chances or making risky decisions end up with the dull side of the blade. Unfortunately for people who avoid trouble and mischief, consequences are paid with permanent life changes. On the other hand, those who live on the edge seem to have a little more fun in their lifetime; these individuals may be faced with consequences but the price is paid and the risky lifestyle is continued.
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I enjoy the challenges learning how to adapt – Lauren Gibilisco

Photo of Lauren Gibilisco

People think that when you are blind your other senses kick in to compensate. But when you are living with Wolfram Syndrome, that is not true.

When I still had my sight, I was colorblind.  When I was in first grade, I used to wear one purple sock and one blue sock.  My mom told me to go change my socks and I told her I like it like this.  My mom thought that I was showing that I was confident and independent and wanted to be different.  Then when I was in sixth grade and my mom had me at the doctors, they asked my mom how long I had been colorblind.  She told them that I wasn’t.  They then proceeded to have me show my mom how I matched up the color blocks.  She couldn’t believe it.  She never knew.

When you go to cross an intersection you would normally listen for the traffic since you can’t see it.  I have high frequency hearing loss and wear hearing aids.  I can hear traffic but can’t tell which direction it’s coming from.  So it takes awhile standing there to hear no traffic. I have trouble hearing little kids because they talk in a high pitch and I really can hear older guys better because of their lower toned voices.

I have been diagnosed with Anosmia.  It is the inability to perceive odors.  I have trouble determining what I am smelling. I would have trouble telling if I was smelling a rose or smelling a lilac.  But there is one odor I can smell.  It is ONIONS.  I don’t know if it is because I hate onions.  But the smell makes me sick.  I don’t know if it is in my head, but don’t bring an onion near me.  So I would greatly appreciate St. Louis doctors if you would take the onion out of the smell test next clinic. 🙂

I have the same trouble with taste as I do smelling.  I have trouble determining what I am tasting.  I love cinnamon, but if you gave me a piece of cinnamon candy, I would have trouble knowing what I was eating.  I went out for breakfast with a friend last week and they didn’t have any of the cinnamon muffins left.  They did have a roll with a little cinnamon on it, but I couldn’t taste it.  My mom told my friend next time to just say it was cinnamon and I would believe that’s what I was eating.

The last sense I have trouble with is touching.  I have learned to read Braille.  My problem is that I am very slow at it.  I have had diabetes since I was two and I have real difficulty in feeling what I am touching.  Poking your finger for 25 years at least 5 times a day causes the nerve endings in my fingers not to feel as well.  I also have trouble with the force of my touch.  I think I am just tapping your arm and everyone says “ouch” because I guess I am punching them hard.  So I am apologizing in advance for anyone I may touch too hard.

So living with Wolfram Syndrome causes problems in my life but I enjoy the challenges learning how to adapt.

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Hypersensitivity to Heat – Lauren Gibilisco

“Some Like It Hot and Some Sweat When The Heat Is On”- Hypersensitivity to Heat

Hello Everyone,

I told you last week the main symptoms of Wolfram Syndrome.  Today I am going to talk about a lesser symptom that greatly impacts my life. This symptom is hypersensitivity to heat. My body has a problem regulating temperatures.  “Some Like It Hot” only begins to describe my house.

Photo of Lauren GibiliscoFor those that don’t know me, I am from Nebraska.  The weather here can be very windy and unpredictable.  This last week has been extremely cold (for normal people).  The temperature was in single digits with wind chills below zero.  We also had three days where the regular temperature was -10 to -15 with wind chills -20 to -30. In simple terms, I hate the heat and love the cold.

Here is where I have a constant argument with my mom.  She wants me to wear a coat in the winter.  She lectures me on how the cold can affect my skin.  I hate wearing a coat.  It always makes me hot no matter what the temperature.  Here is how I respond to people.  “I never wear a coat unless I can see my breath.”  Ha-ha, I can never see my breath so I always win that argument. I like to exercise at home, especially during the winter, so when I get hot I can just go outside to “chill out”.

In the summer, it can get very hot and humid here.  This makes me a prisoner in my home.  I sweat profusely and I am unable to be outside for any length of time. I can no longer take walks, go to amusement parks or baseball games. The only activity that works for me is swimming.  The cold water keeps my body cool.  My parents had to install a separate central air conditioner upstairs just to keep me cool.  I don’t like it to be any warmer than 65 degrees.  So picture this, it is 100 degrees outside and my mom is wearing a sweater and socks trying to stay warm inside the house.  So what a family we are.  I hate to wear a coat in the winter and my mom has to wear a sweater in the summer.  Oh well I’ve always loved being unique.

Have a great week everyone and enjoy the weather. ☺

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Diabetes, Wolframs and Botox, Oh My! – Lauren Gibilisco

Photo of Lauren Gibilisco

Lauren Gibilisco

Hello everyone.  My Botox surgery was a success.  I am happy to report that I am getting up only two or three times a night instead of every hour. I don’t feel as tired anymore through out the day.  This has made me feel so much better. I am able to drink a lot more and hold a lot more than every before.  This gives me a lot more energy so I can talk a lot more which is just what my mom needs. LOL.

I was also able to go back to my volunteer job this week where I shred paper.  Who better to shred confidential papers than someone who can’t see anything on them. ha-ha.  I’ve had this job since high school which I really enjoy.  The people there treat me like anyone else.  They don’t pity me.  In fact quite the opposite.  They love to give me a hard time and tease me.  It’s hard to know who is getting more harassed, them or me. My mouth is the only part of me that is not affected by WS.

I should back up and tell you a little about me.  I am affected by all aspects of DIDMOAD.  DI (DIABETES INSIPIDUS), DM (DIABETES MELLITUS), OA (OPTIC ATROPHY, D (DEAFNESS).  I am legally blind and use a cane to get around. I wear hearing aids for high frequency hearing loss. I was diagnosed with Diabetes Mellitus when I was two years old and take insulin shots.  The Diabetes Insipidus is controlled by medication. I take 20 prescription pills every day to control my WS. I was diagnosed with WS when I was 12. I have other symptoms but I will talk about them another day.

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What Define’s One’s Life – Adam Zwan

Photo of Adam ZwanSome people are glorified for an invention or for a remarkable breakthrough in science.  However, others make their mark in history by being diagnosed with a rare illness that shortens life expectancy by half.  My place in history start in 1987 on September 18, living life as a healthy young man only to find health beginning to spiral downward in 1994.  The diagnosis of Type I diabetes was only the first mile marker in my marathon known as Wolfram Syndrome.  As one of 18 patients with Wolfram in the United States I found myself obligated to beat the statistics and surpass the life expectancy of 31 years old by controlling my diabetes and staying as physically active as I possibly could. I took a realistic look at myself and said that Wolfram Syndrome is the hand that I was dealt in life and it is my responsibility to make the best of what I have.
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