A couple of weeks ago I was asked if one thing could be healed on me, what would it be? I thought about it for a while and decided it would be my hearing. I asked my mom what she thought and she answered blindness of course. She couldn’t believe I said my hearing.

Photo of Lauren Gibilisco

Lauren Gibilisco

My hearing went before my blindness. But with the hearing I was able to get hearing aids that definitely helped me hear. Life went on and I slowly lost my vision. It wasn’t something that went at once so I was able to adapt. My cane instructor worked with me to listen for sounds in order to cross streets and even know where I was. So vision was directly affected by hearing.

Last week, my one hearing aid quit working and the other one had the ear mold fall off. This happened both at the same time. Suddenly I almost couldn’t hear anything. My mom called up our hearing doctor and asked if we could drop off my hearing aid that day and have them glue it back together. We had a hearing appointment scheduled for the next week but I couldn’t wait that long. It was right before Easter when all our relatives were coming to our house. They of course said they would be happy to do it for me. This is out of town for us, so my mom and me went out to lunch and then did some shopping to waste time until they called to say it was fixed.

Now just think about it. Here I was, not able to see anything, and now couldn’t hardly hear anything. My mom had to yell in my ear for me to hear. All of the sudden my vision became much worse because I did not have my hearing to help guide me. The dark became darker.

The following week I went to my hearing appointment. My hearing had been getting really bad and my mom made the appointment because she was tired of having to scream all the time. The good news is that the doctor said my hearing had decreased but not that much. It was my hearing aids that were shot. I needed a new pair. He also was telling us about the improvements in hearing aids since I had my other pair. He said they made them moisture proof so when I sweat in the summer it won’t affect them. He said I would be able to hear much better for the advancements but would still have difficulty understanding what was being said. It’s like I can’t tell if you said “pink or sink”. This makes me take time to understand what you are saying because here I am thinking you are talking about something being pink and you instead are talking about the sink. This takes the brain a little longer to catch up.

Now even though he said the understanding would still be a problem, there would be an improvement. I was happy to hear this. I talk with kids all over the world and understanding their accents is sometimes very difficult. I hope this will help me so I will be better able to connect with the world.

Now my mother understood why I would want my hearing fixed soon. I can get around pretty good with my cane and with my hearing I can do almost anything. After thinking it all through my mom had thought without being able to hear and see I would only have a few options. Would a cochlear implant help me or would we have to start learning sign language in the hand like Helen Keller did. My mom admitted it was more stressful to always having to repeat things than picking up something I bumped into and broke. Life is always amusing.

My major focus is to develop treatments and provide a cure for Wolfram syndrome. Because Wolfram is a prototype of ER stress-related disease, I am running projects related to other ER stress-related diseases, Type 1 diabetes and ALS, on the side because I can learn new things and come up with new ideas. I often watch the website created by Mr. Hiro Fujita who is a patient with ALS. I agree with him. We should to everything we can do to speed up the process for developing treatments for rare diseases including ALS and Wolfram syndrome. Tomorrow is already a day late. Instead of worrying about who is going to take responsibilities or intellectual property rights, we should develop novel treatments and bring these to our patients as soon as possible.

http://end-als.com/#movie

Thank you for your continued support.

Take care,

Fumi Urano

Clock face showing time past midnight on white background

One of the exciting things that were offered during our visit to NIH, NCATS, was to renovate old drugs and make them more specific for Wolfram syndrome and other endoplasmic reticulum-related diseases. We have identified three FDA-approved drugs that can potentially delay the progression of Wolfram syndrome. These drugs were originally designed and indicated for other disorders. We are certainly interested in using one of these drugs for our interventional study after we determine the dose of the drug using our animal models and cell models of Wolfram syndrome. In parallel, they recommend that we modify the structures of these old drugs and make them more suitable for Wolfram syndrome. Their medicinal chemists have the ability to do this. This is a “renovation” of an old drug. I look forward to this exciting collaboration. Thank you, Thank you, Thank you.

Thank you for your continued support. I am quite hopeful.

Kindest regards,

Fumi Urano

renovation in progress

Moving out on my own in April 2015 is a chance for me to increase my confidence and begin experiencing more of life’s treasures. On the other hand, there are some health risks and family worries due to my taking a chance on my own. I tell myself to be thankful to have such a close-knit family that loves and cares as much as they do.
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Stephanie Snow Gebel, the founder of the Snow Foundation, and I visited NIH, National Center for Advancing Translational Sciences, yesterday. Our visit to NIH was quite fruitful. I learned a lot about the NIH’s efforts on developing novel treatments for rare diseases. I met with Dr. Christopher Austin’s team and discussed our potential collaboration on Wolfram syndrome and related disorders. We will further discuss our collaboration on April 17th. They have a very strong drug development team. If we can develop a new drug targeting the endoplasmic reticulum specifically designed for Wolfram, this may lead to a novel treatment for diabetes. I am excited by this opportunity. Please stay tuned!

Thank you for your continued support and encouragement.

Take care,

Fumi Urano

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blood sugars scale I had a few weeks where my blood sugars were unstable. If I ate something that would make me go high, I was still low. This happened for about 2 weeks. Now the bad thing about the timing of low blood sugars is that I’d probably be able to have a lot of ice-cream since it usually makes me go high. But I gave it up for Lent and couldn’t indulge. Since then the blood sugars have been erratic. I could eat the same thing at the same time and do the same thing and my blood sugars were very different from day to day. Now unfortunately this was a problem because I was going to have another Botox injection into my bladder. I couldn’t eat or drink anything after midnight. So not knowing how my blood sugars would be, I ate a carb full supper. I ate pizza and did not give any Humalog and cut my Lantus down by 5 units. We had to drive into Omaha for the surgery which is 2 hours away. We were afraid that I would be low and get lower on the drive. So cutting down on the insulin would really help keep me from going low. After all this my blood sugar was only 199 which aren’t great but considering everything I did it was something we were comfortable with. By the end of the time I was in the hospital, which was about 10 hours, my blood sugars were 128. Thank goodness my blood sugars cooperated that day.

Now when I was in the hospital they asked me if I wore a pump. I told them “no” because I can’t see it and they said they didn’t think about that. Right now I am totally independent in taking care of my diabetes. I use pens to dispense the insulin and I have a talking meter. Now I know the pump would be very beneficial to me but it would make me dependent on someone again. I’m not quite sure how they work but I think someone would have to dispense the insulin in. I know it also beeps to let you know if you are going high or low. That is something else I would have a problem with. Right now one of my hearing aids seems not to be working well. I also believe my hearing has decreased again. I am having a very hard time hearing. When you are blind you rely on your hearing. But with me being hard of hearing I can’t rely on my sight. So unfortunately it makes it very difficult to use the pump and remain independent. They have talking meters; hopefully someday they will have talking pumps. But they would need to have the volume be very loud. Now mom WHAT did you say????? Sometimes it is very convenient to not being able to hear your mom.

Bowl For A Good Cause

Join Alex’s Army for a fundraiser with bowling, raffles and an auction on April 26th from from noon to 4pm at the Concord Bowl. Proceeds benefit The Snow Foundation for Wolfram syndrome research. $20 per person includes hot dog or hamburger, chips with a drink and the option to bowl. (Additional concessions will be available for purchase.)

To register please contact Amber Bieser at amberbzr@gmail.com

Crazy Bowl Fundraiser for Wolfram syndrome

Saturday, October 31, 2015
Strathalbyn Farms Club
9:00 a.m.

The Inaugural Snow Foundation “Shoot For A Cure” Sporting Clay Competition will be held at the exclusive Strathalbyn Farm Club on Saturday, October 31, 2015. The event will include range practice and a 15-station sporting clay competition followed by lunch, a live auction and awards ceremony. All proceeds from the event will benefit The Snow Foundation, a nonprofit dedicated to raising awareness and funding for a rare and deadly form of Diabetes called Wolfram syndrome.

“Shoot for a Cure” Sponsorship Levels and Benefits

Tournament Presenting Sponsor

$15,000

  • Four Sporting Clay Shooting Teams (4 per team)
  • One Course Station Sponsorship
  • Company logo prominently displayed on all event signage
  • Company logo included on all tournament materials
  • Company mentions in event press release and with any media mentions. Media partners currently include: KMOV, Channel 4, 101 ESPN and News Talk 97.1
  • Company name and sponsorship level recognized at awards ceremony
  • Company logo on The Jack and J.T. Snow Scientific Research Foundation website

BUY NOW

Reception Sponsor

$10,000

  • Three Sporting Clay Shooting Teams (4 per team)
  • Company logo prominently displayed on all event signage

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Lunch Sponsor

$5,000

  • Two Sporting Clay Shooting Team (4 per team)
  • Company logo prominently displayed on all event signage

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Course Station Sponsor (14 available)

$2,500

  • One Sporting Clay Shooting Team (4 per team)
  • Company logo prominently displayed on (1) course station signage

BUY NOW

Individual Attendee (Non-Shooting)

$100

Admission to the Clubhouse during the Shoot Out.  Lunch, cocktail reception and fire pit area included.

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Can’t attend the event but want to support the foundation?  Make a donation by clicking HERE.

Wolfram syndrome moving vanMy whole life has revolved around health status and trying to control the progression of Wolfram syndrome. Even though the harder I try, the more difficult it seems to get. I decided to take a big chance and try living on my own. It has been made clear to me that everyone around me worries regardless of the circumstances. Thus, worrying will continue the rest of my life so I must make a change and do something for myself.
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Hello, Hola, Tung, Ciao, Bon Jour!

Photo of Lauren Gibilisco, Wolfram syndrome patient

In honor of the upcoming St. Patrick’s Day holiday. This was me from last year.

Recently I was contacted by someone who works with me. Her nephew’s girlfriend needed to write about someone with a disability. Of course she thought of me. Who better to pick from then someone with more than one disability?

I received a phone call from her and she introduced herself and told me what she needed for the report. I told her I had Wolfram syndrome. Her first questions were at what age I was diagnosed which I said was 12 when I was finally diagnosed with Wolfram syndrome but had diabetes mellitus at age 2, hearing loss age 5, vision loss and diabetes insipidus age 11.

She wanted to know if I had been treated differently by anyone because of my disease. I told her yes. In High School the teachers were great and made accommodations that I needed. I only had a few friends in high school. A lot of kids thought I was faking. They were nice to me but only a few went out of their way to help me. No one offered me rides home and to go shopping or to go to school activities. I was home alone a lot. You see my disabilities weren’t VISIBLE. They didn’t know how much was wrong with me because all the problems were inside of me. If I had lost a leg then people can see and will help you. They didn’t know all my problems with choking, ataxia, heat intolerance, seizures, fatigue, bladder issues, hearing loss, vision loss, etc. All of these problems at that time were invisible. Then in college I didn’t start using my cane until my last year. It wasn’t that I couldn’t see some but had become adept at counting doors, counting steps and feeling my way around. My Human Service Director thought I was even faking because I could do things so easily. I was able to have my text books downloaded and had computer software then read me the words. In spite of my disabilities I was able to have been ranked 8th in my high school and was a member of Phi Theta Kappa in college.

I told her about the lack of research when I was first diagnosed and now how much research is being done in St. Louis with Dr. Fumi and his team. When I was diagnosed there was very little written about Wolfram syndrome. My mom spent hours on the computer researching it and was able with another Wolfram parent to start the very first web page with a support group. It was how we were able to meet more people. I also told her that now I have several friends from all over the world. They are in England, Spain, Switzerland and Italy, Canada, Australia and of course the US. What is great is that I can actually see them and talk with them through Skype. It is fun talking to them although their accents sometimes make it difficult to hear. I also told her about the Snow Foundation and my blogs on their website so she could read them and get a better feel of who I am.

I told her of my desire to be a cop but I didn’t think they would give me a car or gun since I am blind. When I was younger I had different dreams for myself but sometimes you have to change your dreams to fit life.

She asked me how I am doing now in my life. I said “As far as I see”, I am doing well. Haha.

Goodbye, Adios, Tung, Ciao, Au Revoir