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.