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.
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.
-By Adam Zwan
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:
“I am really enjoying the Global Warming.”
“What’s with all this snow, I thought Global Warming was making everything hotter.”
“Ice again next week, this is not Global Warming, this is Global Freezing!”
The problem with the Global Warming theory is that it only predicts what occurs during part of the year and so during winter months the theory gets mocked. Sometimes words alone do not explain everything they represent. For instance, having Wolfram Syndrome does not mean that I am genetically linked to wolves or get the urge to howl at the moon. Wolfram Syndrome is a genetic disorder that attacks the central nervous system and Global Warming is just a theory regarding climate changes. The theory is scientifically correct. Climates have shown warmer temperatures, glaciers/icebergs are melting, and birds are migrating further north than ever before.
When interacting with other people who mock a theory, like Global Warming, I feel it important to explain things a little further. Due to human activity, the ozone layer around Earth’s surface is being damaged and depleted. The ozone layer around Earth has two important aspects: block sun rays to prevent overheating, and capture heat to prevent freezing climates. In essence, when the ozone is removed Earth will experience hotter summers and colder winters; both of which are being experienced at present. It is only natural to mock or criticize something after an initial glance, I’m guilty of it. I find myself taking back things I have said or thought after doing research and proving myself wrong and that has served as a valuable lesson in life. As a result, I do not believe everything I hear before doing research and coming up with my own conclusions.
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
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.
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!
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
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. ☺
The Gift Has Already Been Given!
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.
Anyone has the ability to throw a punch but it takes technique and skill to defend one’s self and avoid physical confrontations Each class involves teaching proper form and usage of Taekwondo as well as life skills, such as respect, discipline, self control, honor, loyalty, setting goals in education, and much more. The physical art is tested through the performance of various movements. Progress reports and parent meetings reveal improved behavior outside the academy.
Following months of teaching and training several classes, I was pleasantly informed that my lessons of both Taekwondo and life skills were promoting successful results and the parents of class members wanted to thank me by giving me a gift of some kind. I was asked to think of something I would really like to receive as a gift. A full-time job, a girlfriend, and 20-20 vision were at the top of my wish list, none of which could be given or bought for me but rather accomplished on my own.
Nearing the end of my thoughts about something I would like to receive as a ‘Thank you” for making a difference in the lives of others, I wrote a letter to the parents of my class members. In short, I told the parents that “The gift has already been given.” Hearing that my lessons of Taekwondo and life skills have improved the lives and behaviors of class members was one of the greatest gifts I could ever receive. Knowing that I am making a difference in the community as well as in the lives of others is reason enough to wakeup every day with a smile.
Diabetes, Wolframs and Botox, Oh My!
Hello everyone. My Botox surgery was a success. I am happy to report that I am getting up only two or three times a night instead of every hour. I don’t feel as tired anymore through out the day. This has made me feel so much better. I am able to drink a lot more and hold a lot more than every before. This gives me a lot more energy so I can talk a lot more which is just what my mom needs. LOL.
How To Slow Wolfram Syndrome Progression?
Steps toward a cure for diabetes and Wolfram Syndrome are being made and successful results are occurring in scientific research. The treatments are not yet available for Wolfram patients so it’s wise to attempt slowing Wolfram progression until treatments are available. In addition to being a Wolfram patient I am also a huge advocate for correcting one’s health on one’s own without the use of prescriptions.
From the age of 7-years old to 16-years old I was placed on nine different prescription drugs to treat my various ailments, ranging from diabetes to kidney failure to elevated cholesterol. Upon my own research, I discovered that each prescription drug will eventually require an additional prescription for resulting side effects. I took it to heart and disciplined myself to edit lifestyle and correct health issues without the use of medications; today I am down to three prescriptions and doing very well.
Diabetics without Wolfram can experience nerve damage simply due to uncontrolled glucose levels. Thus, a Wolfram patient, whose central nervous system is genetically experiencing nerve damage, along with uncontrolled diabetes will be faced with hurried progression of kidney failure, vision loss, and hearing damage. Therefore, I have spent a great deal of my life in becoming physically active and nutritionally sound so that I may more closely take control of my diabetes, my health, and my life. Through a daily exercise routine and a low sugar/carbohydrate diet I have successfully kept my blood glucose levels, cholesterol, blood pressure, kidney function, vision, and hearing at a stable and satisfactory quality.
In my visits to Washington University School of Medicine in St. Louis during the annual Wolfram research event, doctors have told me that my lifestyle choices have proven to slow the progression of nerve damage caused by diabetes and Wolfram Syndrome. In short, I was told to keep doing what I have been doing.
In January 2013, Adam Zwan was featured by the NBC affiliate in his hometown of Wilmington, North Carolina, WCET News. The story was to show what it is like for Adam to live with Wolfram syndrome. That night, Adam began to experience severe abdominal pain and was rushed to the hospital where he remained for a week. Despite the delay from Adam’s hospital stay, the news team came back to finish their story. Here is the five minute video on our good friend, Adam Zwan, where you can see for yourself the courage and spirit Adam exudes every day.
Being Sick and Having Surgery, NOT A Good Combination
Hello everyone! As you know I was going to have my surgery on Wednesday, but unfortunately on Monday night I was up every hour throwing up. I luckily didn’t feel sick but couldn’t keep anything down. My blood sugar started to drop a little so I drank some juice but threw it up right away. Luckily this happened later in the night so my blood sugar started to go back up again because I needed to give my insulin shot. Fortunately I stopped throwing up around 8:00 am. This was good so I could probably have the surgery if I didn’t get sick again, but bad because I was tired and weak.
I was able to sleep most of the day, but my mom who stayed up all night with me, had to stay awake during the day so when I needed up she could help me because I was so weak. She was very exhausted and still had to drive me two hours in the next morning for my surgery. She had to wait for me during the surgery and then drive 2 hours home that night.
I feel bad that my disease has to affect others in my family. My surgery went well. I got to go home that day so that was good. The surgery did not paralyze my bladder so this made me very happy. It’s still too early to tell but everything seems to be working well and better than before. I didn’t feel good for the next two days after the surgery but I am feeling good now. Hopefully next week I can tell you that the botox is working very well.