Living With Wolfram Syndrome – Adam Zwan


Photo of Adam ZwanHaving confidence in one’s self is as important in life as breathing.  Without an adequate amount of confidence a person suffers throughout life dealing with mental health.  Having a lack of confidence may make it difficult to finish tasks, create new goals, initiate relationships, and can make a person feel severely depressed.  One must be satisfied with one’s self before he or she can enjoy life.

As a Wolfram patient, I have struggled to increase and maintain self-confidence most of my life.  Psychology claims that a child’s confidence is first developed in middle school (5th-8th grade).  When I was a middle school student I was overweight, payed too much attention to what other students would say or do to me, and did not have an outgoing personality that initiated relationships.  The next stepping stone took place in high school.  I started eating right, becoming more physically active, and worked on my personality, which all helped me to boost my confidence.  While helping out the baseball team and socializing more with peer students, I was feeling better about myself and my surroundings.

My level of confidence was decent while in high school and college but after graduating with a bachelor’s degree a few things changed.  Transferring through three different colleges before graduating made it tough to develop a network of friends and contacts.  Wolfram Syndrome began taking a toll and sending me to the emergency room for various reasons.  With worsening vision, I lost the luxury of driving and independent travel.  After numerous twists and turns, my confidence was again shattered.

Fortunately, I am too strong to just break down and quit.  I continue to exercise everyday to clear my head of any negativity and jumpstart each day relaxed and refreshed.  If I begin a task I make sure that I finish it and finish it well to emphasize the feelings of accomplishment.  The next step in becoming satisfied with myself is to live in an area with a system of public transportation so that I may live and travel independently.  Like most things in life, having a high level of confidence and perseverance will lead to great outcomes.


Patient Based Therapeutics – Part 4

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

Patient-Based Therapeutics Part 4 – Drug Screening Progress

Based on the data obtained from our patients, animal models, and cell models of Wolfram syndrome, we found that calcium depletion of the endoplasmic reticulum (ER) plays a role in the pathogenesis of Wolfram syndrome. So we have been looking for drugs that can prevent ER calcium-depletion-mediated cell death.  As of today, we have found 4 FDA-approved drugs (currently used for other diseases), one supplement, and a new category of drugs (not approved by the FDA). One of the FDA-approved drugs can prevent ER calcium-depletion and cell death in the tissue culture dish. It seems like that this drug can relieve ER stress in one animal model of Wolfram syndrome. We are working very hard to complete these preclinical studies. The ER calcium-depletion releases a molecule called MANF from the ER to the circulation. So we are carefully monitoring levels of MANF in human blood samples.
So how long will it take to bring one of these drugs to our patients? I would like to share a few thoughts.
1. There is no guarantee that these drugs will work in our patients.
2. It is a little challenging for me to predict exactly how long it will take to bring these drugs to our patients.
3. However, I have a clear plan, and am doing my best to make it happen.
Dr. Fumihiko Urano a renowned physician and scientist developing therapeutics and diagnostics for Wolfram syndrome and juvenile onset diabetes.  His areas of expertise include Wolfram syndrome, type 1 diabetes, Pediatric pathology and genetics and Molecular Endocrinology.  He is currently employed at the Washington University School of Medicine where he holds the Samuel E. Schechter Professor of Medicine, 2012 – present.

It’s The Little Things

Hi Everyone,

I have had a couple of busy weeks.  It started out with a trip to Cabela’s.  My father is an avid fisherman and he and I snuck out of the house to go there. When we go there I had to use the restroom.  I was not familiar with this restroom.  As I was leaving I was reaching for the door and flipped off the light switch accidentally.  There was another lady in the bathroom at the time.  She laughed and I apologized and then she told me where to find the door knob.

Since we are on the subject of bathrooms I am going rant a little.  Why can’t bathrooms all be made the same way.  Next time you go in a restroom, close your eyes and try to find where the toilet paper is, how to and where to flush the toilet, find the sink, paper towels and soap.  I can tell you, it is not a place where you want to be feeling around.  They have laws requiring bathrooms to be modified for people in wheel chairs, so why can’t they design a universal way to have bathrooms all be the same for blind people?

Photo of Lauren Gibilisco and her parents

My Dad, me and my Mom

My dad decided we needed a little treat and he wanted to go to Dairy Queen.  The problem is that my dad gets lost a lot.  So he asked me, a blind person, to lead him there and I did! Speaking of treats, I have made the supreme sacrifice of giving up sweets for Lent.  I have a love of ice-cream.  It is the one food that is cold and slides down my throat so I don’t have trouble with choking issues, which is a major problem I have.  So I am sorry if my blogs aren’t as sweetly written as before.

A friend of mine picked me up for lunch one day last week. She took me to a buffet.  She had to walk with me through the buffet naming all the items.  She didn’t think of that when deciding where to eat.  That’s something sighted people don’t have to think about.  It’s the little things.

Later we went to a potluck for our church.  My mom had to help serve so she was busy and my dad had to help me.  My dad is not used to helping me.  My mom is usually always around to help.  He went to my mom and said “what do I do?” She replied “you go pick up a plate and fill it with things you know Lauren would like to eat.”  Then she turned to the other ladies in the kitchen and said “Lord help if I die first.  Lauren would probably starve to death or never leave the house.”  Going out with my dad and having my mom not there is always an adventure.  He often just walks away and expects that I will follow, so he turns around to talk to me and I’m not there.  He then panics and runs back to find where he left me.  My dad is a little helpless but I love him for trying.

Hope everyone has a good week.


Living With Wolfram Syndrome – Adam Zwan

Are You Trigger Happy?

Photo of Adam ZwanPortion distortion is one of the many reasons for the rapid increase in obesity among individuals in the United States.  One category of food that people tend to splurge on is called trigger food.  Trigger foods are those that individuals go to when they are multi-tasking.  For example, while watching a movie, reading a book, working on a computer, or studying for an exam a person may have a snack item at their side and by the time he or she pays attention the entire bag has been eaten.  Depending on a person and their taste buds, trigger food may include chips, candy, popcorn, trail mix, cheese cubes, and list goes on.

There are no bad food groups or bad foods just improper serving sizes.  The good news is that trigger foods do not have to be eliminated from one’s diet; they should just be eaten in the right amount.  Luckily, many methods can be practiced to eat more mindfully.  For one, take your chosen trigger food and measure out a single serving and then placed the remaining food back in the pantry or fridge.  In turn, a smaller amount will be eaten and a limited amount will cause a slower eating pace, which will also help with healthy metabolism.

A popular method in defeating trigger foods is when grocery shopping, shop the perimeter of the store. Fat, salt, and sugar are the three taste good ingredients, which is why manufactured products all contain one or a combination of the three giving snack foods an addictive quality.  By staying on the perimeter of a store a person is less likely to buy trigger foods and have them in the household increasing temptation to overeat.  Also, shopping the perimeter increases the ability to substitute trigger foods with fresh fruits and vegetable.  Instead of having an entire bag of chips while multi-tasking have an apple; now, a bag of chips is defeated with healthier item.

As a Wolfram patient, controlling diabetic glucose levels is extremely important when slowing nerve damage.  Trigger foods can easily boost glucose levels, so eating more mindfully can promote controlled diabetes.  Limiting and substituting trigger foods has proven to be a valuable lesson in living healthier and increasing the quality of life.

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.

Living With Wolfram Syndrome – 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.

It’s Only A Theory!

Photo of Adam Zwan

-By Adam Zwan

With 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:

“I am really enjoying the Global Warming.”

“What’s with all this snow, I thought Global Warming was making everything hotter.”

“Ice again next week, this is not Global Warming, this is Global Freezing!”

The problem with the Global Warming theory is that it only predicts what occurs during part of the year and so during winter months the theory gets mocked.  Sometimes words alone do not explain everything they represent.  For instance, having Wolfram Syndrome does not mean that I am genetically linked to wolves or get the urge to howl at the moon.  Wolfram Syndrome is a genetic disorder that attacks the central nervous system and Global Warming is just a theory regarding climate changes.  The theory is scientifically correct.  Climates have shown warmer temperatures, glaciers/icebergs are melting, and birds are migrating further north than ever before.

When interacting with other people who mock a theory, like Global Warming, I feel it important to explain things a little further.  Due to human activity, the ozone layer around Earth’s surface is being damaged and depleted.  The ozone layer around Earth has two important aspects: block sun rays to prevent overheating, and capture heat to prevent freezing climates.  In essence, when the ozone is removed Earth will experience hotter summers and colder winters; both of which are being experienced at present.  It is only natural to mock or criticize something after an initial glance, I’m guilty of it.  I find myself taking back things I have said or thought after doing research and proving myself wrong and that has served as a valuable lesson in life.  As a result, I do not believe everything I hear before doing research and coming up with my own conclusions.

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)

Living With Wolfram Syndrome – 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. ☺

Living With Wolfram Syndrome – Adam Zwan

The Gift Has Already Been Given!

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.

Anyone has the ability to throw a punch but it takes technique and skill to defend one’s self and avoid physical confrontations  Each class involves teaching proper form and usage of Taekwondo as well as life skills, such as respect, discipline, self control, honor, loyalty, setting goals in education, and much more.  The physical art is tested through the performance of various movements. Progress reports and parent meetings reveal improved behavior outside the academy.

Following months of teaching and training several classes, I was pleasantly informed that my lessons of both Taekwondo and life skills were promoting successful results and the parents of class members wanted to thank me by giving me a gift of some kind.  I was asked to think of something I would really like to receive as a gift.  A full-time job, a girlfriend, and 20-20 vision were at the top of my wish list, none of which could be given or bought for me but rather accomplished on my own.

Nearing the end of my thoughts about something I would like to receive as a ‘Thank you” for making a difference in the lives of others, I wrote a letter to the parents of my class members.  In short, I told the parents that “The gift has already been given.”  Hearing that my lessons of Taekwondo and life skills have improved the lives and behaviors of class members was one of the greatest gifts I could ever receive.  Knowing that I am making a difference in the community as well as in the lives of others is reason enough to wakeup every day with a smile.