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Living With Wolfram Syndrome – Lauren Gibilisco

Chores Anyone?

Photo of Lauren GibiliscoAs you know, living with Wolfram syndrome poses many challenges for me, including doing my chores.  With my vision impaired, I’ve had to come up with different ways of doing things and I thought I’d share them with you.

I start with making my bed.  My bedspread has two raised rope designs going vertical.  This lets me know how far to pull it on each side so it is even.

Almost every day I empty the dishwasher.  I know how the dishes feel so I know where to put them.  How large the bowl is lets me also know where it belongs.  Every dish has a certain spot in our cabinets so I know exactly where they go.  I run my hands over the spokes in the dishwasher to make sure I have gotten everything out.  Since I know where the dishes are I know how to set the table.  The only thing I have trouble with is the salt and pepper shakers but we put a braille strip on each item so I know what it is.

They do not let me clear the table.  I have broken too many dishes slamming them on top of each other.  Or I run into them when they are coming through.   I am also able to get things out of the refrigerator because again everything has a certain place to go.  Although sometimes my dad doesn’t put it back where it should go. One day when we were having hotdogs for lunch my dad said “why is there chocolate syrup on the table?”  I thought it was mustard.  Good thing he saw it before I put it on my hotdog.  That would not have been good.  My mom doesn’t like me cooking on the stove while she isn’t there.  She said she doesn’t want to come home from a long day at work and find the fire dept there.

I also dust and vacuum both the upstairs and the downstairs.  I’m not sure I get everthing wiped off or picked up but I just try to keep going in a straight line hoping I am going in the right direction.  I also sweep the kitchen and bathroom floors.  I sweep hopefully into a pile and bend down and pick it up with the dustpan. I listen to see how much is coming out of the dustpan so I know how much is still being picked up.  I can’t see what I am doing so I just do it several times until I think everything is gone.  I also use my bare feet to walk around and feel if I missed anything.

I am in charge of doing the family wash.  I know what my dad’s shirts feel like with all the buttons.  I also know the weight and feel of his white tee-shirts so I am able to separate the whites from the darks.  Of course I am able to tell the difference between a top and pants so I know which to hang and which to fold.  My mom also buys the pod detergents so I don’t have to worry about measuring everything or knowing where to pour.  I am also able to put the washer and dryer on the right settings because we use stick on raised dots.  These go on the start buttons and the temperature settings so I know how to adjust for the different types of clothes.

The buttons are also used on the stove and microwave.  It is digital so I have the dots put on the one, the three and the five buttons so I know the correct temperatures or time settings.  Now getting food out of the oven is a little bit harder.  You don’t want to go feeling around too much in a hot oven looking for the pan.  My mom bought the silicon gloves that go up to my elbows.  You cannot get burned with these on.  So I feel confident reaching in the oven.  They also wipe off cleanly or can be put in the dishwasher if anything spills on them.

I spend a lot of time at home alone.  My parents also work very hard and long hours.  Doing all these chores makes me feel good that I am able to contribute to my family.  It also gives me something to do every day instead of just watching tv or listening to the radio.

So there you have it!  That’s how I do my chores while living with Wolfram syndrome.  Now I have to get back to work!

Lauren

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Patient Based Therapeutics – New Drug Candidates

New Drug Candidates

As I mentioned in my previous blogs, we have identified three FDA-approved drugs, one supplement, and new groups of drugs that can potentially delay the progression of Wolfram syndrome. We have been testing the efficacy of these drugs in cells from patients and two animal models of Wolfram syndrome. Preliminary data look good, and we have been working very hard to bring at least one drug to patients.

We have also identified a potential biomarker that would be useful for monitoring the efficacy of our new treatment. I would like to thank patients who donated blood samples to us. Recently, some families donated blood samples from patients’ siblings, and these samples were really helpful to confirm our findings.

I have been trying to establish firm relationships with biotech companies and nonprofit organizations to bring these drugs to our patients through clinical trials. Our lawyers have been helping us a lot. I will keep on pushing the envelope with my wonderful team and colleagues.

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 – Adam Zwan

What is Taekwondo to Me?

As a Wolfram Syndrome patient, I have learned that controlling my diabetes and my overall health can slow Adam Zwan doing Taikwando.down the progression of any illness.  Thus, I have become a huge advocate for fitness and nutrition as a means of promoting quality years of life.  Health is a broad term that encompasses physical, mental, psychological, intellectual, and spiritual health.

When I was first asked to help teach taekwondo classes I was eager to help as well as improve aspects of my own physical health.  As a trade off, I would assist in teaching classes and then be taught the art of taekwondo to help improve my balance, flexibility, and technique.  After a few weeks of assistance I was shown that lessons of taekwondo can be used to teach various aspects of health.  Members of the academy ranged from 2 to 16 years old and learned not only taekwondo but how to make a difference at home, in school, and in the community.

It is important to know how to defend one’s self and how to avoid danger but equally valuable to show respect, discipline, and self control.  Behavioral attributes are woven into each lesson of taekwondo and prove to create amazing men and women for the future.  The fast food industry targets children so that eating habits are developed early in life; the same philosophy is used in teaching taekwondo but in contrast, the members I engage learn proper manners, how to be respectful, and how to interact with others using a positive demeanor.

After several months of training and teaching taekwondo I see improvements within myself as well as the members who I have engaged.  While I experience better balance and flexibility the members are bringing n progress reports with better grades, notes from parents explaining good deeds performed at home and in the community, and showing respect and discipline towards instructors and peers.  Taekwondo has proven to be a valuable lesson in life that teaches not only self defense but behavioral attributes that mold bright futures for the next generation.

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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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Living With Wolfram Syndrome – Lauren Gibilisco

Lauren GibiliscoHello Everyone,

The last few weeks have been fun and entertaining.  It started out on St. Patrick’s Day.

I am 75% Irish and our family has always celebrated it.  When I went to work on St. Patrick’s Day I was dressed as a leprechaun.  My clothing was green and I wore a green hat. I had shamrock on my face and of course I had the height of a leprechaun because I am a wee bit short.  I have a pretty good Irish accent and I went around saying “top of the morning to ya.”

After that I went back with my mom to the grocery store.  I became the leprechaun greeter.  The customers all loved me sharing my heritage with them.

Then last week I went to the endocrinologist.  The resident asked me questions and took my information down.  She said she would discuss my health with the doctor.  The door opened seconds later and I expected to see the doctor.  But it was the nurse who came in.  She asked me if I had my machine and if I would test my blood sugar.  I said I had just checked it before coming in here and I was fine.  She said to check it anyway.  Then my mom asked “why do they think she is low?”  The nurse said that the resident thought I was talking too much and too fast and might have a low blood sugar.  I checked my blood sugar and it was fine.  The nurse said “as soon as I saw you I knew that wasn’t the case.”  She said “that’s just typical Lauren.” LOL

I went out to dinner with a couple of friends.  One of them had just gotten engaged.  She said it was going to be a small wedding and she had to limit the invitations, but she said I made the cut.  A couple of days later I received a phone call from two of my friends who are in college.  I hadn’t heard from them in over a year so it was a pleasant surprise.  They came over to my house and we just talked and got caught up on our lives and watched a movie.

This last weekend I went up to Omaha to see my cousin who was in a musical at college.  The musical was the Phantom of the Opera.  I had seen the Broadway show in New York City about nine years ago.  At that time I could still see.  So even though I was not able to see the characters on stage I knew from the music what was going on.  All my aunts came down to see the musical so I was able to spend time with them and my grandparents.  It is always nice sharing memories and laughs.

The last few weeks have been busy and fun.  It was great seeing old friends, new friends and relatives.  Every time we get together we create a lasting memory.

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