It’s been 10 years since I graduated from High School. We had our 10th year reunion this last weekend. I had to find someone who could help lead me around. I love my mom but going to a reunion with your mom is just not cool, so I asked my friend Meredith to take me.
The first festivity was a float in a parade. The class reunions are always during our town’s celebration weekend. As much as I wanted to sit on the float with my classmates, I knew it would be impossible. The weather was 85 degrees which is way too hot for me to be outside long and then there was the problem of needing a restroom. We had to line up on our float an hour before the parade and then the parade was an hour long. I can’t go that long without needing the restroom. It really disappointed me but I’ve learned there are things I just can’t partake in.
The next festivity was out at a cabin. I talked with my mom and decided it would just be too hard for me to walk across an uneven surface, be outside in the heat, and again needing the restroom. So we decided to just skip that also. Then my friend Meredith said she was only going to stay out there for an hour and would help guide me around. I was very excited about that. I really did want to go but didn’t want to be a burden to anyone. But Meredith insisted that I wouldn’t be a burden and she would be glad to take me there. I was really happy I went. I got to see a lot of my classmates. Well I couldn’t SEE them but I was able to talk with them and say hello. Meredith took me around and let me know who was there so I could say hello to everyone.
Then that evening there was a dinner banquet. Meredith again took me there and helped me to the table. Unfortunately not many of my classmates came. So I was really glad I was able to go to the cabin because I saw many more classmates then I would have been able to see at the banquet.
After the banquet everyone was heading to the bar to celebrate. There was a live band playing and it was less than ½ block to my house. Unfortunately by this time I was getting very tired. That darn fatigue was getting in the way of my continuing the celebration. I told everyone that I would be the designated driver to drive them home but no one took me up on that one. I wonder why? But overall it was a great experience and I’m glad I went and I’m glad that my friend Meredith took the time to help me enjoy the celebration. I am very grateful to her.
We have identified three drug targets for Wolfram syndrome in the past two years. These are MANF, Calpain 2, and IRE1. What is the difference between these three molecules. Here is a short summary.
MANF: Enhances survival and proliferation of remaining cells.
Caplain 2: Activates cells death signal in Wolfram and Diabetes. So we need an inhibitor.
IRE1: Prevents the activation of cell death signals.
IRE1 and Calpain 2 are enzymes. So we need drugs that can control their activation levels.
MAFN is a secreted molecule. We can potentially use an artificial MANF (i.e., recombinant MANF) for treatment. Another pathway is to identify a receptor for MANF and develop a drug that can activate the MANF receptor.
Thank you for reading my blog. I always appreciate your encouragement. I think about our patients every day.
Take care,
Fumi Urano
Business man under the question mark
Maybe or Maybe Not
Originally, I was told that Vocational Rehabilitation could provide financial assistance towards a street legal golf cart. When I first heard these words I was exhilarated to think that independent transportation is a possibility. I am still not full time at the wellness and rehabilitation center I work for so financial assistance is needed to acquire a street legal golf cart. It was explained that I must obtain a quote for a golf cart, add it to my file, Vocational Rehabilitation would purchase the golf cart, and then Vocational Rehabilitation would receive a tax rebate. It was all planned out and I was feeling optimistic that a Wolfram Patient, like me, could increase level of independence. Although, I try my best to be cautiously optimistic by saying that it may happen or it may not.
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For once I can say that I have had a busy couple of weeks. It was really nice. My sister took a vacation to Cancun. We got to dog sit Emmy, my sister’s dog, for a whole week. I have written about her before so I know you know her. It was fun to have extra company and someone to play with. But there were some problems.
Emmy needed to be taken out to go to the bathroom. I couldn’t do that. First of all, I couldn’t see to put her leash on and hook her up to the stake. I also couldn’t see if she went to the bathroom. I am also not allowed to go outside by myself because I can so easily lose my direction and have trouble finding the house again. That was the rule put down after I got lost outside my house for an hour and 15 minutes in a tee shirt and shorts when it was 28 degrees. So my mom had to come home every couple of hours to let Emmy outside.
Emmy was very distracted while outside. My mom said she was a city dog in the country. My mom would tell her to go potty and she would start to but… oh a bird, I hear an owl, there are kids playing, leaves are blowing, etc. It did not take much to distract her. It would sometimes take a half hour to get her to settle down and go potty.
The other problem I had with Emmy is that she is very energetic. She liked to play a lot. I get tired in the afternoons and need to rest. But Emmy would bark at me to play. She wouldn’t let me sleep until I played with her. Luckily I didn’t have to play a long time. Overall, the rest of the time she was Emmy, my favorite dog and great company for me.
Here is the great news. I found another volunteer job. I am going to work at our local museum helping to catalog, fold clothes and put away special papers to preserve them. It is really fun. I work with this lady called Deb. She likes to talk as much as I do so my nonstop talking doesn’t bother her. It is very interesting the things we are preserving. A lot of the items I have never heard about or know how they were used, so it is fun learning about history while working. We have been folding linens this week. Although I can’t see them, Deb describes them to me and I feel the textures of the fabric. It is amazing to wonder how those people back then could create such intricate work.
I work at the museum on Tuesday, Thursday and Friday afternoons for about 4 hours. Then I am still working Wednesday morning at the telephone company. This will really help keep me occupied and I won’t be stuck at home being bored. Although I am not getting paid, it is so great to be out around people again and having someone else to talk to than just my mom. There is only one problem. My mom thought that when I got this job I would be talking to other people and so I would not have to talk to her so much. Oh she was so wrong. I come home and have stories to tell and conversations to repeat. So although I am not bored anymore, my mom unfortunately is still stuck with me talking non-stop.
Wolfram Syndrome is a rapid aging and deterioration of the central nervous system. The damages consist of diabetes, chronic kidney failure, deafness, and blindness; it’s not anything to be ashamed of, it’s just not something worth bragging about on the first date.
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My top priorities are to: 1) repurpose a FDA-approved drug and 2) develop novel drugs for Wolfram syndrome. I am also looking into environmental factors, diets, and life-styles that can potentially delay the progression of Wolfram syndrome. One of the possibilities I am looking into is to keep our blood sugar steady (i.e., maintain normoglycemia).
I have an impression that patients who maintain normoglycemia may have milder symptoms and delayed progression. I was reading an article introduced in the Wall Street Journal very carefully. This study was led by David Holzman, MD, a renowned Alzheimer’s disease scientist. His team’s study strongly suggests that high sugar levels in the brain accelerate amyloid deposition in the brain, which increases the risk for Alzheimer’s disease. Based on their study, neuronal functions and activities are altered by high sugar levels. We should look into this in our animal models of Wolfram syndrome.
Dr. Holzman’s study might explain the link between Type 2 diabetes and Alzheimer’s disease. Please note that Wolfram syndrome 1 gene variations are associated with the risk of Type 2 diabetes, the most prevalent form of diabetes.
Thank you for reading this blog. I am thinking of one of our patients and sincerely hope that her condition gets better. We really need a treatment for this devastating disorder.
Take care,
Fumi Urano
Various kinds of sugar in wooden bowls
I 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.
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Dr. Barrett and I gave lectures on Wolfram syndrome at the Japan-Korea Diabetes Symposium in Japan this week. Our lectures were successful. I had a chance to speak with Japanese physicians who see patients with Wolfram syndrome. The president of Japanese Diabetes Association, Dr. Tanizawa, and the President of the American Diabetes Association, Dr. Dagogo-Jack, were there.
I felt fortunate that I had a chance to present my progress at the symposium. Our goal is to conduct international clinical trials.
Thank you for your support. Thank you, Thank you, Thank you.
Take care,
Fumi Urano
My current priority is to bring an existing drug that can control endoplasmic reticulum (ER) functions to our patients with Wolfram syndrome. However, this is not good enough to halt the progression and/or reverse symptoms. We need to design a new drug that is specifically designed for Wolfram syndrome. How can we achieve this?
We are taking a few different approaches. One of the approaches that I am taking is to extensively test the existing FDA-approved drug and monitor the effects of this drug on ER functions. We are also testing this drug in mouse models of Wolfram syndrome and cells from patients. Based on the data we have, we will test other new drugs that bind to the same molecule as this FDA-approved drug binds. The efficacy of these drugs will be carefully monitored in mouse models of Wolfram and cells from patients. Together with the Snow Foundation, we are raising funds to achieve this goal as quickly as possible.
Thank you for your continued support.
Kindest regards,
Fumi Urano
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