Tag Archive for: Dr. Fumihiko Urano

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Living With Wolfram Syndrome – Adam Zwan

Independence

wolfram syndrome independenceI recently moved out of my parents’ home to live on my own in an apartment all in an effort to gain some independence and self-sufficiency. It has been a start to the next chapter in my life with both pros and cons. It feels good to depend on myself to fulfill everyday tasks but it will take some time for my family to relax and feel confident that I can fend for myself.

The whole scenario was made possible after acquiring the Dexcom continuous glucose monitoring system with Share. This device accurately monitors my glucose levels and through Bluetooth communicates with five chosen followers who can also see what my glucose levels are. For the first time in my life other people can see part of what my body is experiencing. As some may have guessed, when my glucose level is below 150 mg/dL all my following family members believe that my glucose is plummeting and I need assistance. The drama has settled somewhat and they now see that an assistant is not needed to feed me orange juice and peanut butter but I am fully capable of serving myself.

Next in line is the cell phone chaos. When my glucose falls a little bit I receive phone calls from three or four of my followers, regardless of the time of day. If I do not have my phone by my side, I am in the shower, using the restroom, or in the gym and someone is trying to call me but I am unable to talk it is all perceived that I am in trouble. Thus, a family member is dispatched to my apartment or 911 is called and then canceled when I become available. I know I should just be thankful that I have a family who cares for me as much as I do but it make everyday living a bit difficult. Although, the yo-yo effect my glucose readings go through is mostly my fault. It seems the harder I try to control my glucose levels the harder it becomes. The exercise I participate in six times a week, my Gastro Paresis, and my limited diet all play a part in my frequent glucose fluctuations.

Everyone has a story and everyone has something he or she struggles with, my struggle in life is health (Wolfram Syndrome). I remind myself everyday that challenges in life are a given but coping and pushing forward are choices. My prayers rest with the Snow Foundation to fund research and Dr. Urano in finding a treatment for Wolfram Syndrome.

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Living With Wolfram Syndrome – Adam Zwan

Health Glitches

Thanksgiving 2014 was a fun filled day of food, family and laughter. The meal felt like a Golden CorralWhat a person with Wolfram syndrome cannot eat buffet without the Golden Corral. Thanksgiving used to be a favorite holiday of mine but due to Wolfram Syndrome it has become my least favorite. The family getting together and enjoying one another is a great event but the food is another story.

Before Wolframs and its complications took a toll, I could enjoy splurging a little and try each dish that was served. However, this year was low carbohydrate and low sugar for diabetes as well as low fat and low fiber for gastroparesis. When the feast was prepared and served buffet style, family members piled up plates of turkey, ham, pork tenderloin, casseroles, dressings, and stuffing. Finally it was my turn to say turkey breast please and……ok, turkey again please. The feast ended with cakes, pies, and puddings. I went against my morals and had a sugar free cheesecake cupcake. The smiling, laughing, moaning, and groaning made the holiday even more memorable. Two hours later did not occur as pleasant for me.

Later in the day, while family members were sprawled out in the den, my stomach decided to empty its contents and spike my sugar. With the little bit of food I ate my metabolism slowed down and held on to everything I consumed. Gastroparesis is a fancy term for delayed stomach emptying, so after my insulin did it’s, work my stomach empties without any insulin to combat the contents. This glucose spike lasted through the night and was finished by Black Friday. On a lighter note, anytime glitches in health occur, I just read successful research blog entries by Dr. Urano to give myself hope for the future.

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Long Time No See

I had a great week.  I just returned from the Wolfram Clinic in St. Louis.  This is my 5th year going to the clinic.  I am going to tell you the difficulties I had of hearing and seeing.

Photo of Dr. Urano and Lauren Gibilisco

Dr. Urano and me at my 5th Wolfram Clinic.

The first night we had orientation.  We were to go to different stations to sign papers and collect supplies.  I sat at Dr. Urano’s table and chatted for a while.  After we left I said to my mom “does he have an accent and where is he from? “My mom told me he was Japanese.  This is the 5th year of seeing him and I never knew he was Japanese.  We had a good laugh over that.  It is very difficult to have someone come up to you that you can’t see and can hardly hear.  As we went from table to table I greeted the doctors with “long time no see.”  I wanted to see how many of them would catch it.

In my appointment with the audiologist I had to listen for beeps, repeat words and sentences.  My first sentence was “the cat is sitting on the bed.”  I repeated “the cat is shitting on the bed.”  I asked her if that sentence was what she said.  She could hardly answer me because she was laughing so hard.  She said I gave her the laugh for the day.

One day we took the trolley to go explore Forest Park.  It was very difficult getting up into the trolley.  There were two steep steps I had to go up and making sure I didn’t fall off the curb.  I made it onto the trolley and had to get to my seat.  Again I had to step up to get there.  I grabbed for the seat in front of me but instead I grabbed the hair of the lady in front of me.  I was mortified and apologized to the lady and my mom did also.  She said “she was fine.”  We all had a good laugh over that.

I realized how the information that the doctors get from us will one day lead to a cure.  Dr. Urano is creating new eye cells right now that may greatly help or reverse eyesight.  The clinics are great.  It is so nice seeing all the people there each year.  We feel like a family.  But all the testing and blood samples may one day help stop or cure Wolfram Syndrome.  I for one am so happy to be a part of this and to be a part of the cure.  What better way to help others out.

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Combating Wolfram Syndrome

We have the pleasure of sharing the posts from Dr. Urano’s blog “Combating Wolfram Syndrome”.  Below are his posts for the week of July 21-25.

Friday, July 25, 2014

Endoplasmic Reticulum Disease Clinic 1

Thank you for your feedback for my blog.
http://wolframsyndrome.blogspot.com/2014/07/a-platform-for-providing-immediate-care_24.html
We need to consider multiple factors and logistics for establishing “Endoplasmic Reticulum Disease Clinic.” We need space, motivated physicians and nurses, and knowledgeable administrators. To accept out-of-state patients, we need to provide information and discount of hotels nearby. I feel that we can accomplish this.

Thursday, July 24, 2014

A Platform for Providing An Immediate Care for Patients 2

Thank you for your valuable feedback for my yesterday’s blog.
http://wolframsyndrome.blogspot.com/2014/07/a-platform-for-providing-immediate-care.htmlI feel that we need to create an interdisciplinary clinic where the integration of physicians across disciplines can lead to an improvement in the management of patients with Wolfram and Wolfram-related disorders (diseases related to ER stress). The key is that all the physicians are on the same floor and a patient can see them on the same day. I am working on a blueprint. Let’s call it “Endoplasmic Reticulum Disease Clinic“.

Wednesday, July 23, 2014

A Platform For Providing An Immediate Care for Patients 1 

I often think about this topic. What is the best platform for providing an immediate care for a patient with Wolfram and other rare diseases? My idea is to establish a multidisciplinary clinic for Wolfram and related diseases. When an undiagnosed patient comes to a hospital, he/she will see a medical geneticist/internist to get a correct diagnosis, and then a patient is referred to multiple specialists on the same floor. The key is that all the doctors are on the same floor so that a patient does not need to walk around a big medical center. I will keep on thinking about this. I welcome any feedback from you.

Tuesday, July 22, 2014

Please contact us if you receive a medicine for an “off-label” use

If you are a patient with Wolfram syndrome and have been prescribed a medicine for an “off-label” use, I would appreciate if you contact us (Phone: 314-362-8683, urano@dom.wustl.edu).
http://wolframsyndrome.dom.wustl.edu/As I mentioned in my previous blogs, the law let physicians prescribe a FDA-approved drug to treat a condition for which it is not approved. This is called an “off-label” use. Many physicians are compassionate, and try to help their Wolfram patients by prescribing a drug for an “off-label” use. I often get questions from physicians and patients related to an “off-label” use. Although I don’t recommend any specific FDA-approved drugs at the moment, I would gladly answer your questions. If you are receiving a drug for an off-label use, we can monitor biomarker levels for you and your physician. I respect your and your physician’s decision. So please contact us. I just want to help.

Monday, July 21, 2014

Consultation Clinic 2

As I mentioned in my previous blog, it would be important to establish a consultation clinic for Wolfram at Saint Louis Children’s Hospital for pediatric patients and at Barnes-Jewish Hospital for adult patients. We can do this using regular clinic space or set up new space. For the latter, we probably need to include other rare diseases into our platform. There are several advantages for this. My big idea is to set up a platform for regular care for patients with rare diseases.
http://wolframsyndrome.blogspot.com/2014/07/consultation-clinic.html

Photo of Dr. Fumihiko Urano Combating Wolfram Syndrome

Dr. Fumihiko Urano

Dr. Urano is 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.

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Three Step Formula to Provide a Cure for Wolfram Syndrome

I presented my strategy for providing a cure for Wolfram syndrome at the clinic this weekend. I think there are three steps to achieve this.

1. Stop the progression
2. Protect and Regrow remaining tissues
3. Replace damaged tissues

Slide01Our current focus is to “Stop the progression” of the disease. We are testing if FDA-approved drugs currently used for other diseases may be beneficial for Wolfram syndrome patients, and we have four candidates. We are also developing new drugs specifically designed for Wolfram syndrome. 

We plan to use MANF for protecting remaining tissues, especially eye cells. Our final step is to replace damaged tissues using regenerative medicine. I will keep on talking about these.

 

 

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