Living With Wolfram Syndrome – Adam Zwan

Eye see you…no I don’t! Vision Loss and Wolfram Syndrome

Photo of Adam ZwanOne of the many struggles a Wolfram Syndrome patient will experience, is vision loss. As a young man going through grade school, I noticed my vision quickly getting worse. In a classroom amongst individuals my age, I stood out from the crowd by always sitting in the front row, squinting to see the chalkboard, and having to get close and personal with any reading material. Before being diagnosed with Wolfram Syndrome, doctors were unable to properly treat and diagnosed my visual difficulty.

After grade school, I made it to college where I learned that there are avenues of help; large font textbooks, note takers, and CCTVs for magnifying materials at home. I was grateful for all the help provided by Vocational Rehab and disability resources at school. However, a few months after graduation, my vision continued to deteriorate and resulted in me having to hang up my car keys. I have been told that a driver assist technology is under way and will be marketed in a few years. Let’s hope.

At age 27 I feel a little amputated because I cannot transport myself independently to work, the grocery store, social events, or doctor appointments. Although visual struggles are a part of my life, I know things could be worse. I just tell myself that vision loss is nothing to be ashamed of; it’s just not something worth bragging about on the first date.

Living With Wolfram Syndrome – Lauren Gibilisco

Happy Birthday to Me!

10647102_10205319102845944_4536639020705171881_nIt’s been an exciting week for me. On Sunday my mom and I went to the grocery store. After we were checked out my mom remembered she needed one more thing. She gave the keys to the sacker and told her to take the groceries out and get Lauren into the car. She also told her where her car was and what color. The sacker led me around to the front seat of the car and I got in. When I was in the car I thought the door seemed a little different. I felt the door handle and thought it felt different. So I got out of the car and when I did two people who were friends of mine were walking past and stopped to say hi. I said to her what color is this car? She replied it was black. I asked her if it was a SUV and she said it was a station wagon. The sacker was just standing there waiting to put the groceries in the car. My friend said I think that one is your car. She checked the key with the lock and it was. And they call me the BLIND one.

I also was able to skype with one of our new members from Italy. It was Frederica. My mom and I talked to her and her parents but they didn’t understand English. I was luckily able to hear her well. I have trouble hearing people with accents. But she spoke good English and we were able to share information with her. I am looking forward to scheduling another Skype visit with her soon.

My mom had to go out of town last week to care for my sister after her surgery. My mom does all my pills so I had her fill them up for the entire week in case she couldn’t get home. She was in a hurry but took the time to do it. The next day I felt my pill organizer. We have a locator dot or bump put on the side of the organizer that symbolizes my morning pills. I took my pills out for the morning and discovered that there were a lot of them. I started to count how many there were and realized they were the evening pills. So I felt the night pills and confirmed that they were the morning pills. Again I ask you “who’s blind here?”

Sunday was my 28th birthday. I ended up having more than 60 people wish me happy birthday. That made my day much more enjoyable that I received so many wishes from my friends. Every year on my birthday I celebrate that I have made it through another year of fighting Wolfram Syndrome. It’s another year that I am here and I cherish every minute.

The “Mini-Clinic”: News from the Wolfram Research Clinic at Washington University

imgresLast summer, we had a successful research clinic, with 24 patients and their families attending from all over the world and the US. We welcomed three new patients to our group this year and in a whirlwind 4 days, we performed 22 MRI scans and over 350 individual appointments!

Since then, we have identified additional patients that are good candidates for this study or who are interested in a clinical consultation (or both). Rather than waiting until next summer to collect the research data, we have started to bring these families in to WU one at a time. We call this a ‘mini-clinic’. Each patient undergoes the same tests with our usual wolfram research clinic doctors and investigators, staying overnight in St. Louis. So far, we have done this with 2 families, and 2 more are being scheduled. The mini-clinic has been working quite well and is a nice option for families that can’t or don’t want to travel to St. Louis in July. It also helps us get more data at a quicker pace, which is in the best interests of everyone.

We have also seen four new patients for clinical consultations and for diagnosis of Wolfram.   We are always happy to consult with patients or their physicians about whether they might have Wolfram and how to obtain testing. We can also arrange for them to have care by any of our team who has experience with Wolfram.

Thank you to all of the families for participating in all of our research, and to all of our colleagues and staff who help make the big research clinic and our new mini-clinics happen so smoothly.

Tamara Hershey, Ph.D.
Professor
Psychiatry, Neurology and Radiology
Washington University School of Medicine
Scientific Director of Clinic and PI, NIH R01 “Tracking Neurodegeneration in Early Wolfram Syndrome”

Bess Marshall, M.D.
Professor
Pediatrics
Washington University School of Medicine
Medical Director of Clinic

Brain Functions and Medication

Patients with Wolfram syndrome face multiple challenges in addition to diabetes. That’s why I always feel that Wolfram is the most difficult form of diabetes.

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

Mood swings, anxiety, and depression are commonly seen. Although the molecular mechanisms underlying these symptoms are not clear, we assume that these are related to the dysregulation of neurotransmitter secretion. Endoplasmic reticulum is involved in the maturation and secretion of secreted factors in the brain cells, and Wolfram protein is localized to the endoplasmic reticulum and secretory granules.

Because Wolfram is diabetes with brain cell dysfunction, our candidate drugs should pass the blood-brain barrier. Many drugs cannot reach the brain because blood vessels in the brain have a special structure called the blood-brain barrier. I always make sure that our candidate drugs pass the blood-brain barrier and reach brain cells.
Thank you for reading this. I would like to send kind thoughts toward you. I would like you to stay optimistic. Thank you again.
Take care,
Fumi Urano

Living With Wolfram Syndrome – Adam Zwan

Chasing the Numbers

Adam Zwan struggles with his glucose levels.Wolfram syndrome makes it more difficult to treat and control all other more common illnesses. A Wolfram patient has to deal with diabetes, kidney failure, optic atrophy, and deafness but all these conditions are further complicated due to Wolfram syndrome. Currently, one of the most troubling tasks in my life is trying my best to control diabetes.

In simplest terms it is called chasing the numbers; these numbers represent glucose readings. Wolfram syndrome has increased my sensitivity to insulin and as a result, causes me to require less insulin to combat food and high glucose readings. On the other side, I have developed gastro paresis, which is a fancy term for delayed stomach emptying. There have been many cases where regardless of what I eat my glucose level is uncontrollable.

With all the complications due to Wolframs, any time I swallow something it is an uphill battle. My increased sensitivity to insulin causes an immediate drop in glucose level after taking insulin to combat carbohydrates. Hours after eating, a jump in glucose level occurs because my stomach has finally emptied the food I ate sometimes 15 hours earlier. These glucose fluctuations may be difficult and frustrating to deal with but I’m just thankful that I can still eat food and not depend on a feeding tube.

Living With Wolfram Syndrome – Lauren Gibilisco

Photo of Lauren Gibilisco

Lauren Gibilisco

Last week I visited my neurologist.  He asked how I have been feeling.  I told him that I have been feeling fine but I am very tired.  I sleep 12 hours at night and I take two hour naps a day.  He said maybe my problem is that I am sleeping too much which can cause you to feel tired.  I told him that I cannot stay awake.

He asked what I do during the day and suggested that I do more activities.  I told him I do exercise a lot all through the day.  He asked what type of exercises I do.  He said it was important to get my heart rate up during exercise.  I told him I can’t do that.  Because of my heat intolerance I can only do short bursts of exercise throughout the day.  He asked what else I do.  I told him I watch movies but I get tired of watching the same thing over and over again.  It does me no good to watch a new one because I can’t see what is happening. 

I told him I like listening to music and dance around but again I can’t do it for long because I get hot.  He told me to take a walk outside.  But again I told him I can’t because I have to have someone to guide me along because of my ataxia. I can’t walk straight and get lost real easily. He said I needed more brain stimulation.  He asked do you do braille?  I told him I did learn but because of my neuropathy in my fingers from poking them for blood sugars for 26 years, it makes it very difficult.  I read very very slowly and put myself asleep waiting for the next word.  LOL.  He suggested I walk on the treadmill slowly and for a longer time and try to work up my endurance.  And lastly he suggested taking Vitamin B12 every day. With all my health problems I could easily be deficient. He also wanted me to test my oxygen saturation levels wearing a clip on my finger for 24 hours.  I’m going to get that done tomorrow so I can tell you the test results next week. 

At that point he scooted back and said “you are a challenging patient.”  I told him “thank you very much.”  He laughed and I said “I enjoy being different.”

This should tell everyone how different we WS people are.  I can’t stay awake and Adam wrote in his blog last week that he can’t get to sleep. We should switch for a day then he could get some sleep and I could stay awake.