Tag Archive for: diabetes

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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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Living With Wolfram Syndrome – Adam Zwan

Chasing the Numbers

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.

In simplest terms it is called chasing the numbers; these numbers represent glucose readings. Wolfram syndrome has increased my sensitivity to insulin and as a result, causes me to require less insulin to combat food and high glucose readings. On the other side, I have developed gastro paresis, which is a fancy term for delayed stomach emptying. There have been many cases where regardless of what I eat my glucose level is uncontrollable.

With all the complications due to Wolframs, any time I swallow something it is an uphill battle. My increased sensitivity to insulin causes an immediate drop in glucose level after taking insulin to combat carbohydrates. Hours after eating, a jump in glucose level occurs because my stomach has finally emptied the food I ate sometimes 15 hours earlier. These glucose fluctuations may be difficult and frustrating to deal with but I’m just thankful that I can still eat food and not depend on a feeding tube.

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END WOLFRAM, END DIABETES, END ALS

I was watching the video that our friend and patient, Alejandro, was doing an ice bucket challenge.

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

This project originally started for ALS. So I was checking the ALS-related websites and found the following youtube video. As most of you know, ALS (amyotrophic lateral sclerosis) is a neurodegenerative disease, leading to the progressive degeneration of the motor neurons. As a result, patients with ALS may become totally paralyzed.

In these video series, many friends of Mr. Hiro Fujita, who has lost his voice due to ALS, read his messages. The project is called “END ALS.” He was in the advertising business. So many celebrities read his messages. One of his messages was toward his mother. I would probably say the same word. There is an English caption in each video. He said, “Mom, Thank you.”

He has a website, END ALS. He often uses the word, “HOPE.” What do we need to help our patients suffering from life-threatening diseases? How can we create HOPE? Let’s think about the basics.

1. Make correct diagnosis and refer them to the best specialists.

2. Develop therapeutics to stop the progression.

3. Replace damaged tissues.

These three should happen simultaneously. We need all of these. I want to END WOLFRAM, END DIABETES, END ALS, and…

I hope you will have a wonderful day. Thank you for reading this blog. Thank you for your supports. Thank you, thank you, thank you.

Thank you again, and Regenerate to Beat Degeneration.

Posted: 01 Sep 2014 05:53 AM PDT

I was surprised and glad to see that our patient and friend, Alejandro, was doing an ice bucket challenge for Wolfram syndrome. Thank you again, Ale and the team Alejandro!

I often get questions about “regenerative medicine.” I really like the following video created by the Mayo Clinic. “Regenerate” is the opposite of “degenerate.” Because Wolfram syndrome is a degenerative disease, the best way to counteract is to “regenerate” damaged tissues.

http://www.mayo.edu/research/faculty/nelson-timothy-j-m-d-ph-d/bio-00027362

I hope you will have a wonderful Labor day today.

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Living With Wolfram Syndrome – Adam Zwan

Strange Truth

Photo of Adam Zwan

Adam Zwan

Do you live a risky life or do you fly straight and narrow?  After being diagnosed with Wolfram Syndrome I began paying close attention to my surroundings and the lives of others.  Strangely, it became clear that individuals who live life without taking chances or making risky decisions end up with the dull side of the blade.  Unfortunately for people who avoid trouble and mischief, consequences are paid with permanent life changes.  On the other hand, those who live on the edge seem to have a little more fun in their lifetime; these individuals may be faced with consequences but the price is paid and the risky lifestyle is continued.

For instance, when someone bends the rules a little bit or even breaks a law, like drinking and driving, he or she gets caught, pays some fees, and is able to repeat the same mistake again.  After paying the consequences a risky person will look back and say “it was fun and maybe I’ll try it again.”

For someone like me with Wolfram Syndrome risks may involve eating a certain food or exercising later in the evening.  Thus, these small risks end in the emergency room with doctors telling me “it is a wait and see process and we cannot give you pain medication because it will make things worse.”  I have never broken any laws or made my parents worry that I might cause trouble but I have experienced hardships, sacrifices, and limitations throughout my whole life.  Whether it is a sibling, a friend, or someone you read about, it appears that lifetime consequences are faced by individuals who least deserve them.

When my mind is filled with thoughts of jealousy I just go to the gym sweat until my mind is clear, exercise until it hurts, and make sure I don’t have enough energy to think when I walk out the door.  People tell me all the time that I am a good guy and do not deserve all the issues I am faced with.  The only thing I can do is reply that life is not always fair and those who can rise to the challenge and beat the odds can make a wonderful difference in the community.

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Patient-Based Therapeutics Part 6

Wolfram Syndrome iPS Cells Progress

I received many emails regarding our progress on Wolfram syndrome induced pluripotent stem cells (iPS cells) in the past two weeks. I would like to update you on a few things. As I mentioned in my previous blogs, we have created many iPS cells from skin cells of patients with Wolfram syndrome. These iPS cells can differentiate into various types of cells including brain cells and pancreatic beta cells that are damaged in patients with Wolfram syndrome

1. Disease modeling 
We could successfully differentiate these iPS cells into neural progenitor cells. These are immature brain cells. We found that neural progenitor cells from patients are not completely damaged, which was surprising, but good news to us. Instead, they have altered calcium homeostasis. My impression right now is that cells from patients with Wolfram syndrome are “sensitive” to environmental stress, especially stimulus that changes cellular calcium levels. So we are looking for drugs that can modulate calcium homeostasis in cells to develop a treatment for Wolfram syndrome.

2. Testing drugs
As I mentioned above, we are focusing on drugs that can modulate calcium homeostasis in cells, especially endoplasmic reticulum calcium levels, to develop a treatment. Three drugs out of five candidate drugs that we have identified so far can control endoplasmic reticulum calcium levels. We are testing these three drugs using iPS cells.

3. Correcting a mutation
Using a special enzyme and artificial DNA, we are replacing an abnormal segment of Wolfram gene with a normal segment of Wolfram gene in patient-derived iPS cells. In theory, we should be able to correct altered calcium homeostasis through this process.

4. Making eye cells
A group in Columbia University Medical Center in New York could successfully make pancreatic beta cells from Wolfram syndrome iPS cells. We are collaborating with this group. So we are focusing our own efforts on making eye cells from Wolfram syndrome iPS cells. This is a collaboration project with a group in a major medical center in Japan. They have a special “recipe” for making eye cells. Because a clinical trial using this technology for an eye disease will start in a few weeks in Japan, I feel that this collaboration is so important for us. A physician and scientist who is working on this collaboration project will come to the US and work with us in a few months. The arrangement has been made, and the Japanese agency will partially support this effort.

You may be interested in a clinical study using iPS cells for an eye disease. Here is some info.
http://blogs.nature.com/news/2013/07/japan-to-start-stem-cell-study-on-humans.html
http://www.riken.jp/en/pr/press/2013/20130730_1/

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

 

Dr. Fumihiko 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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Patient-Based Therapeutics Part 5 – Wolfram Syndrome iPSCs

Wolfram Syndrome iPSCs

Today I would like to discuss how we use induced pluripotent stem cells (iPS cells) derived from patients with Wolfram syndrome for developing treatment. Our group as well as a group in Columbia University have created iPS cells from patients with Wolfram syndrome.What are induced pluripotent stem cells (iPS cells)?
iPS cells are a type of stem cells that can be generated directly from adult cells, including skin cells. We can make pancreatic beta cells and neurons from these iPS cells.How can we use Wolfram syndrome iPS cells for treatment?
We can expect that Wolfram syndrome patients iPS cell lines and Wolfram iPS cell-derived beta cells to be a cornerstone for developing novel therapeutic modalities for Wolfram syndrome and other diseases involving endoplasmic reticulum (ER) dysfunction. We can utilize these cells to screen and identify drugs for treating patients with Wolfram syndrome and other ER-associated diseases.Regenerate Damaged Tissues
In the future, we can utilize these cells to regenerate damaged tissues including pancreatic beta cells, retinal ganglion cells (eye cells), and neurons in patients with Wolfram syndrome. Rapid progress in genetic editing technologies and regenerative medicine will make it possible to correct WFS1 mutations in patient-specific iPSC lines and regenerate patients’ damaged cells. Our current progress:
1. Using these Wolfram iPS cells, we have identified a drug target for developing treatment (our manuscript is in review.)
2. As I reported before, we are currently testing the efficacy of five different drugs using iPS cell-derived neurons.
3. We are correcting a WFS1 gene mutation by genetic editing and making eye cells using these iPS cells.We should make the best use of these cells to develop treatments for Wolfram syndrome, efforts that may lead to breakthroughs in diabetes treatment. I have articulated my strategy in the article just published in Diabetes.
http://diabetes.diabetesjournals.org/content/63/3/844.full

Photo of Dr. Fumihiko Urano

Dr. Fumihiko Urano

 

Dr. Fumihiko 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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Living With Wolfram Syndrome – Lauren Gibilisco

Photo of Lauren Gibilisco

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.

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Research Reports From Washington University

Introducing… the Washington University Wolfram Syndrome Study Group!

By Dr. Tamara Hershey

Photo of 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.

Photo of Wash U Team of Drs.

(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!

Photo of Dr. Timothy Barrett

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)

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Living With Wolfram Syndrome – Lauren Gibilisco

“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.

Photo of Lauren GibiliscoFor 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. ☺

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Living With Wolfram Syndrome – Lauren Gibilisco

Diabetes, Wolframs and Botox, Oh My!

Photo of Lauren Gibilisco

Lauren Gibilisco

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.

I was also able to go back to my volunteer job this week where I shred paper.  Who better to shred confidential papers than someone who can’t see anything on them. ha-ha.  I’ve had this job since high school which I really enjoy.  The people there treat me like anyone else.  They don’t pity me.  In fact quite the opposite.  They love to give me a hard time and tease me.  It’s hard to know who is getting more harassed, them or me. My mouth is the only part of me that is not affected by WS.  Winking smile
I should back up and tell you a little about me.  I am affected by all aspects of DIDMOAD.  DI (DIABETES INSIPIDUS), DM (DIABETES MELLITUS), OA (OPTIC ATROPHY, D (DEAFNESS).  I am legally blind and use a cane to get around. I wear hearing aids for high frequency hearing loss. I was diagnosed with Diabetes Mellitus when I was two years old and take insulin shots.  The Diabetes Insipidus is controlled by medication. I take 20 prescription pills every day to control my WS. I was diagnosed with WS when I was 12. I have other symptoms but I will talk about them another day.
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