Adventures in driving – Lauren Gibilisco

When I was 13 I saw a low vision specialist. He was trying different devices on me to get my vision a little better. Then he told me “you will never ever drive.” Well that about told me what my future was going to be like.

Me and my wonderful Mom.

Me and my wonderful Mom.

But I was going to prove the doctor wrong. My mom took me to a very large, empty parking lot. There I was able to satisfy my need for speed. I would go very fast and then slam on the brakes so the car would spin around. Then my mom would take me out into the country and I would drive fast on the gravel roads. One day she said “Lauren look out for that ditch,” and I said, “What ditch?” I was heading straight for it. My mom said that was enough. No more driving on the country roads or parking lots. My dad asked my mom if I would be a good driver if I could see. My mom said “No. The way she likes to drive fast she would get a whole lot of speeding tickets.” After our driving attempts I think that was when my mom started coloring her hair. Riding with me turned her hair gray.

This week on TV I saw something that may change my life. They are coming closer to having cars that drive themselves. I knew there were already cars out there that could parallel park. Could you imagine me trying to park between two cars? Well now they actually have cars that drive themselves. You just tell it where to go and it will drive you right there. They say it will be a lot safer driving than some of the people on the roads today. This would solve my problems. Right now I am reliant on my mom to drive me everywhere. She takes me shopping, out to eat or go to our many doctor appointments. Now I would be able to just jump in the car and say “take me there.” How cool would that be?

So technology has come a long way. They have come up with things that can really help people like me. They have talking watches, talking alarm clocks, talking scales, talking meters and many more. So there are great possibilities out there in technology that will make our life easier.

The only downfall I can see right now to getting a car that drives itself, is that I would probably visit the ice cream store a whole lot more.

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A message from a mother

I receive many emails, letters, and phone calls every day from patients with Wolfram syndrome and unusual forms of diabetes and their families and doctors. Many of these are related to their medical conditions and potential treatments. Some of these are personal.

I received a message from a mother who had lost her daughter due to Wolfram syndrome last week. I was very sorry for her loss. I also appreciated that she shared her thoughts with me. I was encouraged by her message. I face multiple challenges, but a message like this one keeps me going.

I read every single email from you. I try to respond to all of these messages. Thank you again for your continued support. Tomorrow is a Mother’s day, my friends.

Take care,
Fumi Urano

Message in the bottle washed ashore on rocky beach.

Message in the bottle washed ashore on rocky beach.

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We have joined the Global Rare Disease Registry Program of NIH/NCATS

I have some good news to share with you. We have just joined the Global Rare Disease Registry Program of the National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS). Dr. Austin, Director of NCATS, and Dr. McInnes, Director of the Office of Rare Disease Research, helped me to make this happen. Dr. Yaffa Rubinstein who is leading this program is a wonderful person. I will work with Dr. Rubinstein to make this program successful. If you know anyone who has an abnormal form of type 1 diabetes, please ask him/her to contact me. http://wolframsyndrome.dom.wustl.edu/

I started our Wolfram syndrome International Registry with late Dr. Alan Permutt in 2009 when I was a faculty member at the University of Massachusetts Medical School. I presented my idea at the executive committee meeting of the diabetes center. Dr. David Harlan and other committee members offered help and the registry was established at Washington University. It was 6 years ago, and I did not expect that I would take over the registry then.

The registry led to the creation of the research clinic. I hope we can expand our clinic and create the consultation clinic. I hope we can create the Wolfram clinics all over the world. The Snow Foundation and our medical center have been supportive. I will keep on moving forward. The clinics help patients. To save patients, we need novel treatments. I will keep on moving forward.

I feel so grateful today. To achieve a cure for Wolfram is challenging. We need to recruit the smartest investigators and raise funds to make this happen.

Looking forward with fingers crossed,

Fumi Urano, MD, PhD

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Drug development for Wolfram syndrome with NIH, NCATS

My visit to NIH, NCATS, with Stephanie Snow Gebel, Chairman of the Board of the Snow Foundation, was quite successful. We have had multiple discussions in the past two weeks and agreed to develop novel chemical compounds (i.e., drugs) for Wolfram syndrome. We will target the endoplasmic reticulum. This will be a three-way collaboration with NCATS, Snow Foundation, and my Wolfram research team at Washington University. We are very excited by this because NCATS has a strong drug development team. They said that their mission is to develop novel treatments for rare and neglected diseases. I appreciate this opportunity, and grateful for all the people who made this possible, including Dr. Francis Collins, NIH Director, and Dr. Christopher Austin, NCATS Director. The drug development team at NCAST is so strong. I look forward to working with Dr. Ajit Jadhav, Dr. David Maloney, and Dr. Anton Simeonov. This is wonderful news to the Wolfram syndrome community. Thank you, Thank you, Thank you.

With gratitude,

Fumi Urano

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If I could heal one thing – Lauren Gibilisco

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.

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Tomorrow is already a day late

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

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Renovation of an old drug

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

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Worst So Far – My Hypoglycemic Seizure – Adam Zwan

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.
Read more

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Our visit to NIH was fruitful

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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The Blood Sugars Balance – Lauren Gibilisco

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.

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