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Living With Wolfram Syndrome – Lauren Gibilisco

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.

Image of Lauren Gibilisco's class reunion.

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Three Drug Targets. What is the difference?

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

Business man under the question mark

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San Francisco Giants Recognize The Snow Foundation

Image of JT Snow and members of the Snow Foundation BoardOn Tuesday, July 7th at AT&T park, the San Francisco Giants celebrated “Snow Foundation Night” to raise awareness of its mission to find a cure for rare disease, Wolfram syndrome.  Prior to the 7:15 p.m. match up between the reigning World Series Champs and the New York Mets, former Giants first baseman and six time Gold Glove winner, J.T. Snow addressed the crowd on the important mission of the Snow Foundation.

Dr. Fumihiko Urano, Stephanie Gebel and Dr. Saad Naseer
Dr. Fumihiko Urano, Stephanie Gebel and Dr. Saad Naseer
Dr. Fumihiko Urano, Stephanie Gebel and Dr. Saad Naseer
Shane Snow and Stephanie Gebel
Shane Snow and Stephanie Gebel
JT Snow and members of the Snow Foundation
JT Snow and members of the Snow Foundation
JT and Shane Snow
JT and Shane Snow
Stephanie Gebel and Shane Snow
Stephanie Gebel and Shane Snow
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Living With Wolfram Syndrome

Maybe or Maybe Not

image of a golf cartOriginally, 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.

The next stop I was making was at the Vocational Rehabilitation office to add the golf cart quote to my existing file. While in the office a close review of the vehicle purchase policy took place and it was discovered that only 15% of the total vehicle value (down payment) could be offered. This information seemed logical but was and still is a slight stretch for me financially. Secondly, it was discovered that a street legal golf cart requires registration, tags, auto insurance, and a valid license. Obviously, the golf cart scenario has put on hold. It is times like these when I tell myself to “count my blessing, cope with the hand I was dealt, and keep pressing on.”

On a lighter note, my next eye appointment is on July 10th and it will provide me with details as to where my vision stands. I know that rapid aging and detonation of my central nervous system (Wolfram Syndrome) is a tough hand to me dealt in life but I do my best to stay optimistic and keep a realistic outlook in life. It’s one of my favorite clichés: “It may happen and it may not.”

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Living With Wolfram Syndrome – Lauren Gibilisco

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.

Wolfram syndrome patient Lauren GibiliscoEmmy 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.

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Living With Wolfram Syndrome – Adam Zwan

New Beginnings

a group of children in the sunset with a sign that says HOPE above them.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.

Throughout life I have experienced my fair share of health issues, some resulting in hospitalization, some ending with a seizure, and others finalized with constipation. I now look at all my past complications and can comfortably say it is water under the bridge because there is hope in the future for improved living. Things started improving when I first decided to move out on my own. Next is the golf cart I will acquire through vocational rehabilitation that will provide independent transportation to and from work. The next thing I hope will happen is a clinical trial for Wolfram syndrome. I understand that there are multiple hurdles before the trial starts. If trials are successful (first in the U.S. since 1938) then my mind will be put at ease from thinking that health struggles will continue getting worse. Thus, I will be forever grateful to The Snow Foundation and Dr. Urano for making such a life-altering path.Road sign that says the future is now.

All in all, I have proven to myself as well as people I come in contact with that patience is a virtue and perseverance can pay back in full. I will maintain hope and keep on being patient until the trial starts. It is amazing to imagine what the future may hold and that I may now start setting long term goals to be accomplished decades from now.

 

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