Living With Wolfram Syndrome – Lauren’s Story

Being Sick and Having Surgery, NOT A Good Combination

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.

Living With Wolfram Syndrome – Adam’s Story

Photo of Adam ZwanSacrifice it or never experience it?

Early in life I began having to face several limitations and make many sacrifices due to Wolfram Syndrome.  With the diagnosis of Type I diabetes at 7 years old I was asked to limit and sacrifice enriched white flour and sugars in order to manage glucose levels.  Staying away from sugary and or starchy foods, like pasta, candy, cookies, and rice, I gained a passion for high fibrous fruits and vegetables along with drinking over a gallon of water each day.  As time went on I allowed initiating a network of friends and getting involved in intimate relationships to be placed on the back burner so I could manage my health through nutrition and physical activity.

Around age 16 I was faced with the diagnosis of kidney disease (Diabetes Insipitus of the Kidneys) and was asked to limit water intake to drinking only when thirsty.  Now, I cannot drink a lot of water during the day to decrease hunger, which was not to difficult to deal with but another limitation none the less.

Following the diagnosis of kidney disease and Wolfram Syndrome I began having issues with my digestive system (Autonomic Nerve Dysfunction and Gastro Paresis).  My high fibrous diet and Wolfram were causing my digestive system to shutdown sporadically.  After three different occurrences of sitting in the hospital for several days hunched over in pain with nothing to eat or drink, I was placed on a low residue diet (high protein – low fiber).  Nutritionist and other experts advised me to increase the amount of fat in my diet to make up for caloric deficits.  However, having Gastro Paresis knocked a high fat diet out of left field because fat slows down the digestive system causing glucose levels to fluctuate.  At this point in time 85% of my current diet has to be sacrificed in order to keep my digestive system in working condition.  It is tough getting filled up every day on eggs, yogurt, meat, and seafood, but telling myself that “It could be better but it could always be worst!” makes things easier to deal with.

The next big stepping stone was having my driver’s license taken away due to visual difficulties at 25 years old.  Independent transportation taken away is yet to be the most difficult thing to get used to.  Depending on family and neighbors to transport me to and from work, the pharmacy, bank, gym, and the grocery store creates a conflict when trying to make my own schedule, develop a social life, and maintain a career.

All in all, I would have to say that I would rather never experience something than to have it taken away later down the road.  It is easy to get by without a girlfriend because I have never had one and so I do not really know what I am missing.  On the other hand, having things, like food groups and a driver’s license, taken away makes me wish with all my heart that I could continue or have them back.

The Power of Wolfram: The Weapon to Combat Type 1 Diabetes

Why do I study such a rare disease as Wolfram Syndrome?

I am often asked, “Why do you study such a rare disease, Wolfram?” My answer is, “It is the weapon to combat common diseases.” My secret answer is, “I want to help Wolfram patients and their families.”

Why it is so important to study Wolfram syndrome, a rare condition characterized by juvenile-onset diabetes, optic atrophy, and neurodegeneration? It is a frightening condition. Wolfram syndrome is always on my mind just like pediatric cancer was always on my mind when I was a young doctor (some people still think that I am a young doctor…thank you). I just want to help them. That’s all I want. This is my last research project.From a scientific standpoint, I always believe that there is a tremendous benefit for us to study Wolfram syndrome. Increasing evidence now indicates that endoplasmic reticulum (ER) dysfunction is involved in more common diseases, especially type 1 diabetes. I propose that Wolfram syndrome is the “weapon to combat type 1 diabetes.“Despite its rarity, Wolfram syndrome probably represents the best model currently available for identifying treatments for diseases associated with ER dysfunction. Wolfram syndrome arises from mutation of a single gene (WFS1), a gene shown to be also involved in β cell dysfunction and death in other forms of diabetes mellitus. Its monogenic etiology makes Wolfram syndrome more amenable to dissecting out the mechanisms underpinning cellular responses to ER dysfunction than other diabetic conditions, such as type 1 diabetes mellitus, in which multiple factors typically interact to produce the disease manifestations.

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

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.

Living With Wolfram Syndrome – Lauren’s Story

I’m Getting Botox, But Not The Way You’d Think

Photo of Lauren GibiliscoToday I am going to visit my grandmother celebrating her 80th birthday. I love my grandma and it is always fun to get together with all my relatives. After my doctor visit on Monday, I found out that my urologist is going to try something new for my bladder issues. I have a neuro stimulator implanted for my bladder that constantly spasms. It worked really well before but lately its not working as well. I get up almost hourly every night to go to the bathroom. This really tires me out because I never get any sleep. He is going to inject botox into my bladder to keep the spasms from occurring. He said he has had a lot of luck with this. He said it was done often on patients with MS or Cerebal Palsy. So I agreed to try it. It will last for one year. The doctor also had to inform me that there was a chance that it could paralyze my bladder. This thought really scared me. I thought, I get all the weird things happening to my body, so does that mean that I will have a paralyzed bladder? It this occurs, I would have to catherize myself for a year. Even though I am reluctant to do it, I will if it means I could get some sleep. My mom wishes they would inject it into my mouth so I quit talking so much. My mom is mad because the doctor won’t take a little extra and apply it to my mom’s face. LOL.

Well I have had my presurgical checkup and will have the surgery done on Wednesday. It is a 2 hour trip both ways to get to Omaha where my doctor is. I can’t wait to see if it works or not. Today I saw my psychiatrist. It was just a quick visit. He wanted to know how my constant checking things were doing. Was the medication doing what it is supposed to do for my bipolar diagnosis? It was all fine. We have to make a 1 ½ hour trip each way to see him. We are only there for a total of ½ hour. I feel bad my mom has to drive me everywhere. This has been a busy week. I will let you know next week how the surgery went.

Patient-Based Therapeutics Part 3

Research Update from
Dr. Fumihiko Urano

Patient-Based Therapeutics Part 3
Photo of Dr. Bess Marshall, Dr. Fumi Urano, Dr. Tamara Hershey

LEFT TO RIGHT: Dr. Bess Marshall, Dr. Fumi Urano, Dr. Tamara Hershey

Instead of introducing my research activities,  I would like to introduce my colleagues today. I have a lot of colleagues who have been helping me develop diagnostics and therapeutics for Wolfram at the Washington University Medical Center. Without their help, I cannot accomplish anything. I give many lectures and talks on Wolfram syndrome, but I feel that I am just a spokesperson or a salesman of our team.

Today I would like to introduce Dr. Bess Marshall and Dr. Tamara Hershey. Dr. Marshall is a pediatric endocrinologist and serves as a medical director of our annual Wolfram clinic. Dr. Marshall is an experienced, smart, and caring physician scientist. Dr. Hershey is a neuropsychologist and serves as a scientific director of our Wolfram clinic. Dr. Hershey is thoughtful, smart, and extremely good at getting things done. They are powerful driving force of our Wolfram project! I always appreciate their continuous support and advice. Here is their picture! (From left to right: Dr. Marshall, Fumi, and Dr. Hershey)

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.

 

Living With Wolfram Syndrome – Adam’s Story

What Define’s One’s Life

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.

[pullquote style=”right”]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.
[/pullquote] fitness routine has become the highlight of my every day and I use Wolfram as my driving force to continue staying physically active.  My clique is “No one needs an excuse to exercise everyday but it’s nice to know that I have one.”  Each day starts at Gold’s Gym from 6a.m until 8a.m. then I continue teaching fitness classes from 9a.m. until 12p.m. at a wellness and rehabilitation center and then finish each day with teaching Taekwondo classes from 3p.m.til 6p.m.  Simply put, being physically active, and helping others stay active, and rising above the natural struggles of health are just a few of the things I would like to define my life.

Patient-Based Therapeutics Part 2

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

Research Update from
Dr. Fumihiko Urano

Patient-Based Therapeutics Part 2

We are taking an unconventional approach to develop therapeutics for Wolfram syndrome. I would call it “patient-based therapeutics.” This implies a few things. One of these is the “mechanism-based treatment.” How can we achieve this component of “patient-based therapeutics” for Wolfram syndrome? Here are our current efforts.

1. Looking for FDA-approved drugs that can potentially halt progression of Wolfram syndrome (drug repurposing).
We looked for drugs that can protect cell death mediated by the leakage of calcium from the endoplasmic reticulum (ER) to the cytosol. We found four FDA approved drugs and one supplement so far. We are testing these drugs in Wolfram iPSC-derived neural progenitor cells and mouse models of Wolfram syndrome.

2. Looking for a new class of drugs that can protect cell death mediated by endoplasmic reticulum dysfunction.
We have developed a drug screening method to identify drugs that can protect cell death mediated by ER dysfunction. In collaboration with a non-profit organization, we are actively looking for a new class of drugs that can potentially halt the progression of Wolfram.

3. Testing if MANF (mesencephalic astrocyte-derived neurotrophic factor) can suppress the ER calcium leakage-mediated neuronal cell dysfunction in Wolfram iPSC-derived neural progenitor cells.

I will talk about more on MANF some other time. I thought that this was a good biomarker for Wolfram syndrome because expression of this molecule is increased by ER dysfunction. However, the increase of MANF might be an adaptive mechanism of our cells to cope with abnormal ER function.

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.

We Say Goodbye to a Wolfram Trailblazer and Friend

Photo of Jon Wasson and Stephanie Snow Gebel

Jon Wasson and Stephanie Snow Gebel

Jon Wasson

Yesterday our dear friend Jon Wasson passed away after a lengthy battle with Cancer. Jon was instrumental in the discovery of the Wolfram gene (WFS1). Jon worked closely with the late Dr. Alan Permutt, both bringing Wolfram syndrome research to the forefront at Washington University School of Medicine (WUSM).

Jon played a major role in establishing the Wolfram clinics at WUSM bringing together families from around the world who are dealing with the disease. Jon’s kind and personal connection with the families with Wolfram Syndrome led to the success of the Wolfram Clinic and Registry. Jon was a major supporter of the Snow Foundation and a true friend to our family. He will be sorely missed.

Jon was always kind and thoughtful, and dedicated to our research on Wolfram syndrome. Great loss for all of us.” – Fumihiko Urano, MD, PhD – Washington University School of Medicine

I will miss Jon tremendously. He was straight-shooting, honest, insightful and very passionate about his work, repeatedly going the extra mile to help our Wolfram Syndrome families and to facilitate our research.” – Tamara Hershey, Ph.D. – Washington University School of Medicine

Not Your Typical Holiday

World Rare Disease DayI love holidays.  All of them.  I even love those special days we’ve created, “Sweetest Day”, “Grandparents Day”, “Take Your Child To Work Day”.  But who knew I’d be so involved in something called “World Rare Disease Day” on February 28th.  Not exactly something that was on my radar a couple years ago.   But, here we are on this newly discovered “holiday” but what am I supposed to do?  Buy presents?  Decorate my house?

The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.  I asked myself, am I doing this?  Am I doing the WRDD festivities?  And thankfully, my answer was yes.

So I ask you, will you join me in celebrating this newly discovered “holiday” by supporting our foundation?  You’d spend a few dollars on a card or flowers for boss’s day, so why not donate instead?  You might not get a raise, but you’re helping to change lives.

Where Do I Begin?

Raquel and Stephanie Gebel

Raquel shortly after her diagnosis and me on the steps of the Wash U School of Medicine.

It was a little over 2 years ago when I embarked on this journey with Wolfram syndrome. Last October, I received a devastating blow, one that would change my life and others forever.  My youngest daughter, Raquel, was diagnosed with Wolfram Syndrome, a terminal form of diabetes.  She had been diagnosed with Type 1 diabetes just 9 months earlier.  As a mother, I decided that I was not going to stand by and watch the deterioration of my little girl. There was a lot of work to be done and I was going to do it.

For the last 11 years I have coasted along as a wife, mom and friend. I am blessed that I do not have to work, but I always felt something was lacking in my life, so much so that I frequently brought it up to my husband, Barclay.  When the Wolframs diagnosis occurred, I knew it was God telling me, “Here is your chance, go out and make a difference.”  I am blessed because I had a dad who had an unbelievable personality and who was a well-known athlete, having played for the LA Rams and later as the announcer for the St. Louis Rams. In addition to my dad, I have a brother with a heart of gold who is also well-known for his athletic accomplishments, but in baseball having played in the Major Leagues for over 13 years.  Thus, The Jack and JT Snow Fund was born.

This blog will be painfully therapeutic for me, but also helpful to others dealing with Wolfram syndrome and those who are wondering just what this disease is all about.  I’m not Patricia Cornwell or J.K. Rowling, so bear with me as I take you on the journey that I began back in October 2010.