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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New Beginnings – Adam Zwan

By Adam Zwan

Photo of Wolfram GroupThe 2014 Wolfram clinic occurred last week and it was a fantastic one to say the least. It seems that Washington University of St. Louis research clinic has found its second wind because the entire Wolfram research event was operated with ease and everyone, patients and professional, was enthusiastic and relaxed.

The very first year was extremely chaotic because orientation, clinic, and the final meeting all took place in three days. Also, the first participating ten patients were put through every single research test so testing for everyone began at 8 a.m. and lasted until 5 p.m. However, this year was calmer because the logistics and schedule were in favor of each other within a total of five days. Orientation took place on Tuesday night after all patients arrived and some patients were able to begin testing during their initial arrival in St. Louis. For instance, a couple of patients were able to finish their MRI before Wednesday morning came along.

Instead of having orientation first thing Wednesday morning clinical testing could begin right away after breakfast. Wednesday, Thursday, and Friday were like a breeze because patients could choose to have all morning and or afternoon appointments. Also, because scheduling was not such a conflict most physicians were ahead of schedule and could begin the testing early and finish early.

The Wolfram clinic all ended on Saturday morning with thank yous, research updates, and presentations. One thing that was touched on was the advances that are making it possible for clinical trials to begin next year on participating patients in hopes of slowing and or halting the progression of Wolfram. This news caused eyebrow lifts and smiles amongst all Wolfram families. Hearing that research is doing very well and the possibility of medications and stem cell treatment all make the horizon much brighter for the future of Wolfram Syndrome. The 2014 Wolfram clinic has given me along with the other Wolfram patient’s great hopes for the future.

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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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Wolfram Research Clinic Day 2: Thank you and Thank you

I always appreciate the efforts of all the medical staff, administrative staff, volunteers, researchers, interpreters, and others who have been involved in the Wolfram syndrome research clinic.

It is my privilege to serve for patients with Wolfram syndrome and work with dedicated people who have been involved in our Wolfram syndrome research. My team has been working very hard to develop a novel drug for Wolfram syndrome.

I believe that our patients who are attending this year’s clinic are a little tired now. Thank you for your patience. Thank you for your faith in us. We have one more day to go!

Fumi Headshot

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Wolfram Research Clinic Day 1: Biomarker???

Wolfram research clinic is ongoing and our patients are going through many tests. At this year’s clinic, we are collecting blood samples from not only patients but also their parents and siblings. Why? The reason is we plan to measure “BIOMARKER” levels in these samples.

What is a biomarker? A biomarker is a molecule found in blood or tissues that is a sign of a disease. We found two candidate biomarkers for Wolfram syndrome. The levels of these biomarkers are higher in patients’ blood samples than in non-patients’ blood samples. These biomarkers can be used to see how patients respond to a treatment.Here is an example. Blue: Patients, Red: Non-Patients.

Here is another one. 1: Non-Patients, 2: Patients, 3: Patients after a treatment

 

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Just Keep Fighting! – Adam Zwan

Adam ZwanEveryone keeps telling me to be proud of myself for dealing with everything I am going through associated with Wolfram Syndrome and not be so hard on myself for any unexpected issue; it seems to always be easier said than done. I know that I have had my fair share of health issues and I am still willing and able to keep moving but incidents, like the one a couple days ago, make it difficult to wake up each morning and accept everything.

It all started with an abnormal schedule due to my on-call employment status. It was a pool class from 9 to 10 a.m., in a room that is kept at 86 degrees, which caused my glucose to fluctuate. After returning home I quickly put my ground turkey in the oven to bake for an hour. Within that hour my glucose dropped and the event began.

For about two hours I felt like I was in a living nightmare. Everything appeared out of order and misplaced. I kept trying to gain my bearings by saying my name and repeating my home address is and that is where I am. Repeatedly, I kept saying “what is going on; am I going insane? Get a hold of yourself!” During all this chaos my father called the house to find out that I sounded strange. The next thing I remember is waking up on the sofa with two EMS officers asking me questions and feeding me a turkey sandwich and orange juice. When I slowly returned coherent the officers informed me that they were called to check on me and when they arrived I was found on the sofa saying wild and unusual things.

To this day I continue replaying the incident step by step in my head trying to come to terms with it all and say ‘This is my life so do the best you can with what you have.” Thinking about events like these make me hurt all over and make me want to find a corner and ball my eyes out. Instead, I keep all negative thoughts and feelings bundled up inside and take it out on myself every morning at the gym. When speaking about my methods to family members they tell me that I should not be so hard on myself and to be proud of all my accomplishments dealing with diabetes and Wolfram Syndrome. In simplest terms, I cannot stop fighting for more and pushing forward with life

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Wolfram Research Clinic – Day 0

By Dr. Fumihiko Urano

Our annual Wolfram syndrome research clinic will start today, and I met with most of the patients and their families last night. I have been very impressed by them.

WS Clinic2014_Raquel Consent

9-year old Raquel Gebel signing her own consent form to participate in the 2014 clinic.

In this clinic, we don’t provide any treatment. We just collect information and samples from patients, their parents and siblings. All of them are so patient and wonderful human beings. My team has been working very hard to identify the best FDA approved drugs (currently used for other diseases) that could delay the progression of Wolfram syndrome (off-label). In parallel, we are developing new drugs specifically designed for Wolfram syndrome to stop the progression (requires clinical trials). We have made significant progress in the past 12 months and I plan to present my strategy on this coming Saturday.

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Why are we creating eye cells using skin cells from patients?

Tuesday, July 8, 2014
By Dr. Fumihiko Urano

eyeWhy are we creating eye cells using skin cells from patients? More accurately, we are creating two different types of retinal cells using stem cells derived from skin fibroblasts of patients with Wolfram syndrome. We can immediately use these cells to understand the mechanisms of the disease and test the efficacy of candidate drugs. That’s a practical goal and should be achievable.

My audacious goal is to use these cells to replace damaged eye cells in patients. There are many theoretical and practical hurdles to accomplish this, but we should try. Every accomplishment starts with the decision to try.

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Family Vacation Fun

I had a wonderful week spending time with my family at Sherman Reservoir in Nebraska.

Gibilisco Girls

The Gibilisco Girls

We were able to take our first family vacation in 13 years. With my parents store they were not able to get away together and then my sister was in college.  Since my parents sold their store we are now able to spend quality time with each other.

My sister drove home with her puppy to spend the week with us.  I had a lot of fun playing with her dog while she was here.  We rented a cabin at the lake so we could go fishing.  When we arrived at the marina we forgot that we girls did not have fishing licenses.  It was no problem for my mom and sister to show their driving license to get it.  When it came to me the person at the desk said “where is your license.”  I told her “I’m blind I don’t have a license.” She laughed and said she was sorry but I have to have one to let you fish.

Out on the boat it was fun feeling the waves.  You don’t need a license to drive the boat, so I was able to drive the boat since I had a wide open space with nothing to hit.  The only problem I had was I was starting to get hot so my dad dropped me and my mom off at the cabin and they went out fishing again.

We girls took a day to go shopping.  My sister wanted some new furniture. They were looking for rugs and told me to keep an eye out for one. “Haha, very funny” I said. It had been a busy week so I was getting tired.  My fatigue factor kicked in and they had to set me down in a chair because I was so exhausted.

I loved spending time with my family.  It was fun and everyone had a good time. They only problem I had was I hated how my disease had to be factored in to our experiences.  My family is very understanding of it and it did not stop us from having fun. It is great having a close and wonderful family.

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