Vision Loss and Wolfram Syndrome – Adam Zwan

Eye see you…no I don’t!

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.
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Happy Birthday to Me! – Lauren Gibilisco

Lauren with birthday cakeIt’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.

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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

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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

SaveSave

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Chasing the Numbers – Adam Zwan

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.
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Last week I visited my neurologist – 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.

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Tired But Can’t Sleep – Adam Zwan

Image of sleeping manHave you ever experienced full body exhaustion but cannot fall asleep? Fellow Wolfram syndrome patients may know exactly what I am talking about. A snapshot of this sleepless exhaustion is lying in bed with a severe case of yawning while closing the eyes as tight as possible wishing for at least a few minutes of sleep.
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Stem cell-based therapy Q & A – Medical Use

Here are two other questions I often get.

Q: How can we use stem cells for the treatment of Wolfram syndrome and Type 1 diabetes.

Image of iPS cellsA: Stem cells can differentiate into specific cell types including insulin-producing cells, retinal cells, and brain cells.  The most important function of stem cells, especially induced pluripotent stem cells (iPS cells), is their potential use as “cell-based therapies.” iPS cells are a type of stem cells derived from patients’ own skin cells and could be used to repair damaged tissues. For patients with Type 1 diabetes, iPS cells could be prompted to differentiate into insulin-producing cells and transplanted into the body. The body wouldn’t reject these new cells as they would with donated cells or tissues from other individuals (called immune rejection). For patients with Wolfram syndrome, iPS cells could be stimulated to differentiate into insulin-producing cells, eye cells, and brain cells and transplanted into the body. Insulin-producing cells could be transplanted under the skin. We need to find the best way to transplant eye cells and brain cells, and the research is ongoing to figure this out.

Q: iPS cell-derived insulin-producing cells may be attacked again by autoimmune cells in Type 1 diabetes. iPS cell-derived insulin-producing cells and eye cells may degenerate again in Wolfram syndrome. What is the solution?

A: This is a very important question. Before we transplant iPS cell-derived cells, we need to modify disease-causing gene structure in Type 1 diabetes and Wolfram syndrome. In Type 1 diabetes, we probably need to modify insulin gene structure. In Wolfram syndrome, we need to modify Wolfram gene structure. This can be accomplished by genome editing. The genome editing technology is a new type of gene therapy. Using an enzyme and artificially designed guide RNA, we can modify gene structure. We are actively working on this.

Thank you for reading this blog.

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This week my talking watch stopped working – Lauren Gibilisco

Photo of Lauren GibiliscoWell I managed to drive my mom nuts this week. I have many items in my house that talk to me so I can function better. But this week my watch stopped working.

It was a talking watch. Without it I have trouble knowing what time it is. Time is important in our lives. We need to know when to give shots or medicines. We need to know what time it is to eat or even what time it is to take a nap or go to bed. Our lives revolve around the clock. So all throughout the day, I constantly asked my mom “what time is it?” It was a long week for her until my new watch arrived.

When I went to my volunteer job this week I bumped into someone in an office. It was someone else’s office so I didn’t know who it was. That person said you still don’t have my voice memorized yet. She told me she was Barb. When my parents owned their grocery store I had trouble always remembering voices especially because I have hearing loss. I came up with an idea to always say hello and they would have a name made up that started with their first initial. For example, Brianne would come up to me and say “hello Bambi.” Well when I told Barb about that idea I told her to make up a word starting with “B”. She said “I’m not going to call you that Lauren.” Everyone including myself burst out laughing. I said “that didn’t occur to me.” She said she would call me “beautiful” but I told her “brat” sounded more appropriate. Going along with this theme, I was talking to a friend of my moms. She asked if I was going to dress up for Halloween. I told her no. She said “come on, you could dress like a princess and your mom could dress up like a witch.” I told her jokingly “she doesn’t need a costume for that.”

One of my mom’s friends hated thinking of me home alone in our house all the time. I have no friends in this area. So she decided that every other Friday she would come get me and we would go to lunch or dinner together. She has known me since I was 5 years old. I bet she thinks it is no big deal, she enjoys herself. But to me it is a huge deal. It gives me something to look forward to every other week. It gets me out of the house. It gives me someone other than my mom to talk to. So look around, you may see someone who needs a little help. You might think it was nothing but you might have made that person’s day a lot more happier.

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Counting My Blessings – Adam Zwan

AdamHave you ever seen the movie Jack? In case you have not, Robin Williams (Jack) is the lead character who has a rare condition causing him to age three times as fast on the exterior. This is a good comparison when speaking of Wolfram Syndrome because as a 27 year old Wolfram patient I am, quote unquote, about 90 years old internally. Thus, it is like living the life of Jack but inside out.
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