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In Memory of K by Dr. Fumihiko Urano

A Few weeks ago, a young woman who had been battling Wolfram syndrome for many years passed away.  Everyone knew, loved and supported her.  Below is a touching blog post from Washington University School of Medicine’s Dr. Fumihiko Urano about our friend, Ms. K.

In Memory of K

Yesterday I was heartbroken because I learned of the death of Ms. K, a young woman with Wolfram syndrome. I was not helpful. I could not even find a way to delay the progression of the disease. I felt devastated. I really felt devastated. I was very sad and could not respond to any emails for several hours.
As a person, I sometimes feel scared. Although I am always doing my best and determined to figure out a way to help patients with Wolfram syndrome, I know that I am not a god. The treatment I am planning to test may not be effective. I often wake up at midnight and feel scared. However, as a physician, I swear to figure out a way to stop the progression of Wolfram syndrome, find a way to regenerate damaged tissues, and give patients hope. I think I should keep on running to figure out a way to help patients with Wolfram syndrome.
I saw Ms. K reading a poem entitled a single second in time, which reminded me of Sam Berns, a wonderful young man with progeria, a rare disease characterized by accelerated aging. Sam passed away earlier this year. Although he was much younger than myself, I learned a lot from him and his interviews. You may want to watch the following video and read Dr. Francis Collin’s blog on him. His philosophy for a happy life is a wonderful piece to watch. Take care everyone, and have a nice weekend. I will appreciate a single second in time just like Ms. K.
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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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It’s Only A Theory! – Adam Zwan

Photo of Adam ZwanWith the abnormal cold weather that is occurring in the United States for the past few weeks there have been a high number of comments regarding Global Warming. Just a few of the comments that can be heard all over the United States are:
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Wolfram Clinic

Image of the WUSM logoIn September of 2009 we established the Internet-based International Wolfram Syndrome Registry. As the prevalence is estimated at 1 in 200,000-700,000, the Registry was established to provide a cohort of patients for future studies.

We have extended the clinical arm of this project to acquire longitudinal data on the pattern of disease progression and identify potential biomarkers. The first Wolfram Syndrome Research Clinic was held August 6-7, 2010, supported by contributions from the Department of Medicine, Mallinckrodt Institute of Radiology and St. Louis Children’s Hospital. The Clinic was held primarily in the Pediatric Clinical Research Unit located on the 11th floor at St. Louis Children’s Hospital and has six components. This clinic represents a joint research and clinical activity in collaboration with the Divisions of Adult and Pediatric Endocrinology, Ophthalmology, Pediatric Neurology, Radiology, Psychiatry, and Pediatric Otorhinolaryngology. Monitoring disease progression will serve as the basis for clinical intervention when therapeutic agents become available. The second clinic was held in 2011 and largely supported by the Snow Foundation.

Since 2010, we have hosted a research clinic annually for five consecutive years. Our next research clinic will be held in July 2015. These multidisciplinary clinics have also provided the opportunities to assemble a team of physician scientists with first-hand knowledge of this rare disease who can provide a valuable resource for patients and their families now and in the future. Together with the Snow Foundation, we are currently planning interventional studies as well as patient centered Wolfram syndrome subspecialty clinic.

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Research Reports From Washington University

Introducing… the Washington University Wolfram Syndrome Study Group!

By Dr. Tamara Hershey

Photo of Dr. Tamara Hershey

Dr. Tamara Hershey

I would like to tell you about the big picture of research and clinical activities at Washington University focused on Wolfram Syndrome. There are three parts to this effort 1) Diagnostic markers and treatment  development for Wolfram syndrome using animal models and human cells, led by Dr. Fumi Urano (see his previous blog postings here); 2) Patient-oriented natural history studies, led by me — Dr. Tamara Hershey) to determine the trajectory of Wolfram Syndrome-related neurological changes, providing the necessary background information for future clinical trials and 3) Expert clinical screening and care for Wolfram Syndrome, led by Dr. Bess Marshall. Dr. Marshall and other WU physicians now have the most in-depth clinical experience with Wolfram Syndrome in the nation and perhaps the world, providing the basis for a true clinical center of excellence.

Photo of Wash U Team of Drs.

(Left to Right): Dr. Fumihiko Urano, Dr. Tamara Hershey, and Dr. Bess Marshall

Fumi, Bess and I work as a team on all three of these aspects of Wolfram Syndrome research and care. We are in almost daily contact with each other to push our work further and problem solve together. It has been a privilege to work with both of them on something we are all so passionate about. In addition, we work with a large team of dedicated clinical and research faculty and staff, who we collectively refer to as the WU Wolfram Syndrome Study Group. Their names are below. I want you to know that there are a lot of talented and dedicated people here at WU working hard on the behalf of all Wolfram Syndrome families!

Photo of Dr. Timothy Barrett

Dr. Timothy Barrett

We are also in contact with collaborators across the world, including Dr. Tim Barrett in the UK and others, to pool our experimental and clinical data and share measurement tools and ideas. We hope that in the future, these collaborations will provide the basis for a multi-center international clinical trial network. We are committed to being ready to implement an efficient, high quality clinical trial, as soon as a safe drug is identified with strong experimental evidence suggesting that it might help.

WU Wolfram Syndrome Study Group Leaders:  F. Urano (Medicine), T. Hershey (Psychiatry, Radiology, Neurology) and B. Marshall (Pediatrics)  P. Austin, M.D. (Surgery) G. Earhart, Ph.D. (Physical Therapy) S. Eisenstein, Ph.D. (Psychiatry) J. Garbow (Radiology) J. Hoekel, O.D. (Ophthalmology) T. Hullar, M.D. (Otolaryngology) R. Karzon, Ph.D. (Audiology & Communication Sciences) H. M. Lugar, M.A. (Psychiatry) L. Manwaring, M.S. (Pediatrics) A. R. Paciorkowski, M.D. (Neurology, U Rochester) K. Pickett, Ph.D. (Physical Therapy) S. Ranck, MSW (Psychiatry) J. Rutlin, B.S. (Psychiatry) J. Shimony, M.D., Ph.D. (Radiology) A. Viehoever, M.D. (Neurology) N. H. White M.D., CDE (Pediatrics) In memoriam: A. Permutt, M.D. (Medicine) J. Wasson B.S. (Medicine)

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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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The Gift Has Already Been Given! – Adam Zwan

Photo of Adam Zwan receiving his latest Taekwondo belt.Starting in January 2013 I was asked by a gentleman to help him run his academy teaching Taekwondo.  Being physically active and enjoying exercise as much as I do, I did not blink before I agreed to help out.  I was told that class members would range from 3 to 16 years old and that I would be using the art of Taekwondo to teach self defense as well as improve behavioral aspects within the community, at home, and at school.
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β-Cell Dysfunction Due to Increased ER Stress in a Stem Cell Model of Wolfram Syndrome

Publication: www.ncbi.nlm.nih.gov | Publication Date: February 13, 2014

Authors: Linshan Shang, Haiqing Hua, Kylie Foo, Hector Martinez, Kazuhisa Watanabe, Matthew Zimmer, David J. Kahler, Matthew Freeby, Wendy Chung, Charles LeDuc, Robin Goland, Rudolph L. Leibel, and Dieter Egli

Abstract

Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing cells from individuals with Wolfram syndrome. WFS1-deficient β-cells showed increased levels of endoplasmic reticulum (ER) stress molecules and decreased insulin content. Upon exposure to experimental ER stress, Wolfram β-cells showed impaired insulin processing and failed to increase insulin secretion in response to glucose and other secretagogues. Importantly, 4-phenyl butyric acid, a chemical protein folding and trafficking chaperone, restored normal insulin synthesis and the ability to upregulate insulin secretion. These studies show that ER stress plays a central role in β-cell failure in Wolfram syndrome and indicate that chemical chaperones might have therapeutic relevance under conditions of ER stress in Wolfram syndrome and other forms of diabetes.

Read the entire publication article here.

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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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Being Sick and Having Surgery, NOT A Good Combination – Lauren’s Story

Hello everyone!  As you know I was going to have my surgery on Wednesday, but unfortunately on Monday night I was up every hour throwing up.  I luckily didn’t feel sick but couldn’t keep anything down.  My blood sugar started to drop a little so I drank some juice but threw it up right away.  Luckily this happened later in the night so my blood sugar started to go back up again because I needed to give my insulin shot.  Fortunately I stopped throwing up around 8:00 am.  This was good so I could probably have the surgery if I didn’t get sick again, but bad because I was tired and weak.

Photo of Lauren and Pat GibiliscoI was able to sleep most of the day, but my mom who stayed up all night with me, had to stay awake during the day so when I needed up she could help me because I was so weak.  She was very exhausted and still had to drive me two hours in the next morning for my surgery.  She had to wait for me during the surgery and then drive 2 hours home that night.

I feel bad that my disease has to affect others in my family. My surgery went well.  I got to go home that day so that was good.  The surgery did not paralyze my bladder so this made me very happy.  It’s still too early to tell but everything seems to be working well and better than before.  I didn’t feel good for the next two days after the surgery but I am feeling good now.  Hopefully next week I can tell you that the botox is working very well.

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