Having confidence in one’s self is as important in life as breathing. Without an adequate amount of confidence a person suffers throughout life dealing with mental health. Having a lack of confidence may make it difficult to finish tasks, create new goals, initiate relationships, and can make a person feel severely depressed. One must be satisfied with one’s self before he or she can enjoy life.
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Dr. Fumihiko Urano
Patient-Based Therapeutics Part 4 – Drug Screening Progress
Based on the data obtained from our patients, animal models, and cell models of Wolfram syndrome, we found that calcium depletion of the endoplasmic reticulum (ER) plays a role in the pathogenesis of Wolfram syndrome. So we have been looking for drugs that can prevent ER calcium-depletion-mediated cell death. As of today, we have found 4 FDA-approved drugs (currently used for other diseases), one supplement, and a new category of drugs (not approved by the FDA). One of the FDA-approved drugs can prevent ER calcium-depletion and cell death in the tissue culture dish. It seems like that this drug can relieve ER stress in one animal model of Wolfram syndrome. We are working very hard to complete these preclinical studies. The ER calcium-depletion releases a molecule called MANF from the ER to the circulation. So we are carefully monitoring levels of MANF in human blood samples.
So how long will it take to bring one of these drugs to our patients? I would like to share a few thoughts.
1. There is no guarantee that these drugs will work in our patients.
2. It is a little challenging for me to predict exactly how long it will take to bring these drugs to our patients.
3. However, I have a clear plan, and am doing my best to make it happen.
2. It is a little challenging for me to predict exactly how long it will take to bring these drugs to our patients.
3. However, I have a clear plan, and am doing my best to make it happen.
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.
Hi Everyone,
I have had a couple of busy weeks. It started out with a trip to Cabela’s. My father is an avid fisherman and he and I snuck out of the house to go there. When we go there I had to use the restroom. I was not familiar with this restroom. As I was leaving I was reaching for the door and flipped off the light switch accidentally. There was another lady in the bathroom at the time. She laughed and I apologized and then she told me where to find the door knob.
Since we are on the subject of bathrooms I am going rant a little. Why can’t bathrooms all be made the same way. Next time you go in a restroom, close your eyes and try to find where the toilet paper is, how to and where to flush the toilet, find the sink, paper towels and soap. I can tell you, it is not a place where you want to be feeling around. They have laws requiring bathrooms to be modified for people in wheel chairs, so why can’t they design a universal way to have bathrooms all be the same for blind people?
My Dad, me and my Mom
My dad decided we needed a little treat and he wanted to go to Dairy Queen. The problem is that my dad gets lost a lot. So he asked me, a blind person, to lead him there and I did! Speaking of treats, I have made the supreme sacrifice of giving up sweets for Lent. I have a love of ice-cream. It is the one food that is cold and slides down my throat so I don’t have trouble with choking issues, which is a major problem I have. So I am sorry if my blogs aren’t as sweetly written as before.
A friend of mine picked me up for lunch one day last week. She took me to a buffet. She had to walk with me through the buffet naming all the items. She didn’t think of that when deciding where to eat. That’s something sighted people don’t have to think about. It’s the little things.
Later we went to a potluck for our church. My mom had to help serve so she was busy and my dad had to help me. My dad is not used to helping me. My mom is usually always around to help. He went to my mom and said “what do I do?” She replied “you go pick up a plate and fill it with things you know Lauren would like to eat.” Then she turned to the other ladies in the kitchen and said “Lord help if I die first. Lauren would probably starve to death or never leave the house.” Going out with my dad and having my mom not there is always an adventure. He often just walks away and expects that I will follow, so he turns around to talk to me and I’m not there. He then panics and runs back to find where he left me. My dad is a little helpless but I love him for trying.
Hope everyone has a good week.
Lauren
A Few weeks ago, a young woman who had been battling Wolfram syndrome for many years passed away. Everyone knew, loved and supported her. Below is a touching blog post from Washington University School of Medicine’s Dr. Fumihiko Urano about our friend, Ms. K.
In Memory of K
Yesterday I was heartbroken because I learned of the death of Ms. K, a young woman with Wolfram syndrome. I was not helpful. I could not even find a way to delay the progression of the disease. I felt devastated. I really felt devastated. I was very sad and could not respond to any emails for several hours.
As a person, I sometimes feel scared. Although I am always doing my best and determined to figure out a way to help patients with Wolfram syndrome, I know that I am not a god. The treatment I am planning to test may not be effective. I often wake up at midnight and feel scared. However, as a physician, I swear to figure out a way to stop the progression of Wolfram syndrome, find a way to regenerate damaged tissues, and give patients hope. I think I should keep on running to figure out a way to help patients with Wolfram syndrome.
I saw Ms. K reading a poem entitled a single second in time, which reminded me of Sam Berns, a wonderful young man with progeria, a rare disease characterized by accelerated aging. Sam passed away earlier this year. Although he was much younger than myself, I learned a lot from him and his interviews. You may want to watch the following video and read Dr. Francis Collin’s blog on him. His philosophy for a happy life is a wonderful piece to watch. Take care everyone, and have a nice weekend. I will appreciate a single second in time just like Ms. K.
People think that when you are blind your other senses kick in to compensate. But when you are living with Wolfram Syndrome, that is not true.
When I still had my sight, I was colorblind. When I was in first grade, I used to wear one purple sock and one blue sock. My mom told me to go change my socks and I told her I like it like this. My mom thought that I was showing that I was confident and independent and wanted to be different. Then when I was in sixth grade and my mom had me at the doctors, they asked my mom how long I had been colorblind. She told them that I wasn’t. They then proceeded to have me show my mom how I matched up the color blocks. She couldn’t believe it. She never knew.
When you go to cross an intersection you would normally listen for the traffic since you can’t see it. I have high frequency hearing loss and wear hearing aids. I can hear traffic but can’t tell which direction it’s coming from. So it takes awhile standing there to hear no traffic. I have trouble hearing little kids because they talk in a high pitch and I really can hear older guys better because of their lower toned voices.
I have been diagnosed with Anosmia. It is the inability to perceive odors. I have trouble determining what I am smelling. I would have trouble telling if I was smelling a rose or smelling a lilac. But there is one odor I can smell. It is ONIONS. I don’t know if it is because I hate onions. But the smell makes me sick. I don’t know if it is in my head, but don’t bring an onion near me. So I would greatly appreciate St. Louis doctors if you would take the onion out of the smell test next clinic. 🙂
I have the same trouble with taste as I do smelling. I have trouble determining what I am tasting. I love cinnamon, but if you gave me a piece of cinnamon candy, I would have trouble knowing what I was eating. I went out for breakfast with a friend last week and they didn’t have any of the cinnamon muffins left. They did have a roll with a little cinnamon on it, but I couldn’t taste it. My mom told my friend next time to just say it was cinnamon and I would believe that’s what I was eating.
The last sense I have trouble with is touching. I have learned to read Braille. My problem is that I am very slow at it. I have had diabetes since I was two and I have real difficulty in feeling what I am touching. Poking your finger for 25 years at least 5 times a day causes the nerve endings in my fingers not to feel as well. I also have trouble with the force of my touch. I think I am just tapping your arm and everyone says “ouch” because I guess I am punching them hard. So I am apologizing in advance for anyone I may touch too hard.
So living with Wolfram Syndrome causes problems in my life but I enjoy the challenges learning how to adapt.
With the abnormal cold weather that is occurring in the United States for the past few weeks there have been a high number of comments regarding Global Warming. Just a few of the comments that can be heard all over the United States are:
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In September of 2009 we established the Internet-based International Wolfram Syndrome Registry. As the prevalence is estimated at 1 in 200,000-700,000, the Registry was established to provide a cohort of patients for future studies.
We have extended the clinical arm of this project to acquire longitudinal data on the pattern of disease progression and identify potential biomarkers. The first Wolfram Syndrome Research Clinic was held August 6-7, 2010, supported by contributions from the Department of Medicine, Mallinckrodt Institute of Radiology and St. Louis Children’s Hospital. The Clinic was held primarily in the Pediatric Clinical Research Unit located on the 11th floor at St. Louis Children’s Hospital and has six components. This clinic represents a joint research and clinical activity in collaboration with the Divisions of Adult and Pediatric Endocrinology, Ophthalmology, Pediatric Neurology, Radiology, Psychiatry, and Pediatric Otorhinolaryngology. Monitoring disease progression will serve as the basis for clinical intervention when therapeutic agents become available. The second clinic was held in 2011 and largely supported by the Snow Foundation.
Since 2010, we have hosted a research clinic annually for five consecutive years. Our next research clinic will be held in July 2015. These multidisciplinary clinics have also provided the opportunities to assemble a team of physician scientists with first-hand knowledge of this rare disease who can provide a valuable resource for patients and their families now and in the future. Together with the Snow Foundation, we are currently planning interventional studies as well as patient centered Wolfram syndrome subspecialty clinic.
Introducing… the Washington University Wolfram Syndrome Study Group!
By Dr. Tamara Hershey
Dr. Tamara Hershey
I would like to tell you about the big picture of research and clinical activities at Washington University focused on Wolfram Syndrome. There are three parts to this effort 1) Diagnostic markers and treatment development for Wolfram syndrome using animal models and human cells, led by Dr. Fumi Urano (see his previous blog postings here); 2) Patient-oriented natural history studies, led by me — Dr. Tamara Hershey) to determine the trajectory of Wolfram Syndrome-related neurological changes, providing the necessary background information for future clinical trials and 3) Expert clinical screening and care for Wolfram Syndrome, led by Dr. Bess Marshall. Dr. Marshall and other WU physicians now have the most in-depth clinical experience with Wolfram Syndrome in the nation and perhaps the world, providing the basis for a true clinical center of excellence.
(Left to Right): Dr. Fumihiko Urano, Dr. Tamara Hershey, and Dr. Bess Marshall
Fumi, Bess and I work as a team on all three of these aspects of Wolfram Syndrome research and care. We are in almost daily contact with each other to push our work further and problem solve together. It has been a privilege to work with both of them on something we are all so passionate about. In addition, we work with a large team of dedicated clinical and research faculty and staff, who we collectively refer to as the WU Wolfram Syndrome Study Group. Their names are below. I want you to know that there are a lot of talented and dedicated people here at WU working hard on the behalf of all Wolfram Syndrome families!
Dr. Timothy Barrett
We are also in contact with collaborators across the world, including Dr. Tim Barrett in the UK and others, to pool our experimental and clinical data and share measurement tools and ideas. We hope that in the future, these collaborations will provide the basis for a multi-center international clinical trial network. We are committed to being ready to implement an efficient, high quality clinical trial, as soon as a safe drug is identified with strong experimental evidence suggesting that it might help.
WU Wolfram Syndrome Study Group Leaders: F. Urano (Medicine), T. Hershey (Psychiatry, Radiology, Neurology) and B. Marshall (Pediatrics) P. Austin, M.D. (Surgery) G. Earhart, Ph.D. (Physical Therapy) S. Eisenstein, Ph.D. (Psychiatry) J. Garbow (Radiology) J. Hoekel, O.D. (Ophthalmology) T. Hullar, M.D. (Otolaryngology) R. Karzon, Ph.D. (Audiology & Communication Sciences) H. M. Lugar, M.A. (Psychiatry) L. Manwaring, M.S. (Pediatrics) A. R. Paciorkowski, M.D. (Neurology, U Rochester) K. Pickett, Ph.D. (Physical Therapy) S. Ranck, MSW (Psychiatry) J. Rutlin, B.S. (Psychiatry) J. Shimony, M.D., Ph.D. (Radiology) A. Viehoever, M.D. (Neurology) N. H. White M.D., CDE (Pediatrics) In memoriam: A. Permutt, M.D. (Medicine) J. Wasson B.S. (Medicine)
“Some Like It Hot and Some Sweat When The Heat Is On”- Hypersensitivity to Heat
Hello Everyone,
I told you last week the main symptoms of Wolfram Syndrome. Today I am going to talk about a lesser symptom that greatly impacts my life. This symptom is hypersensitivity to heat. My body has a problem regulating temperatures. “Some Like It Hot” only begins to describe my house.
For those that don’t know me, I am from Nebraska. The weather here can be very windy and unpredictable. This last week has been extremely cold (for normal people). The temperature was in single digits with wind chills below zero. We also had three days where the regular temperature was -10 to -15 with wind chills -20 to -30. In simple terms, I hate the heat and love the cold.
Here is where I have a constant argument with my mom. She wants me to wear a coat in the winter. She lectures me on how the cold can affect my skin. I hate wearing a coat. It always makes me hot no matter what the temperature. Here is how I respond to people. “I never wear a coat unless I can see my breath.” Ha-ha, I can never see my breath so I always win that argument. I like to exercise at home, especially during the winter, so when I get hot I can just go outside to “chill out”.
In the summer, it can get very hot and humid here. This makes me a prisoner in my home. I sweat profusely and I am unable to be outside for any length of time. I can no longer take walks, go to amusement parks or baseball games. The only activity that works for me is swimming. The cold water keeps my body cool. My parents had to install a separate central air conditioner upstairs just to keep me cool. I don’t like it to be any warmer than 65 degrees. So picture this, it is 100 degrees outside and my mom is wearing a sweater and socks trying to stay warm inside the house. So what a family we are. I hate to wear a coat in the winter and my mom has to wear a sweater in the summer. Oh well I’ve always loved being unique.
Have a great week everyone and enjoy the weather. ☺
Starting in January 2013 I was asked by a gentleman to help him run his academy teaching Taekwondo. Being physically active and enjoying exercise as much as I do, I did not blink before I agreed to help out. I was told that class members would range from 3 to 16 years old and that I would be using the art of Taekwondo to teach self defense as well as improve behavioral aspects within the community, at home, and at school.
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