Experience Life and Enjoy the Now! – Adam Zwan

Statistics are only numbers but for me they are motivation to stay physically active and nutritionally sound.

Photo of Adam ZwanAfter turning 27-years old I thought about the Wolfram Syndrome statistics of 28-31 years of age as the life expectancy. I do not believe it will happen next year but at the same time I will not deny the possibility. All the while, I go to the gym everyday and tell myself that if an early life checkout finds me, I want to be able to say, legitimately, that I never gave up on fitness and nutrition. I did everything in my control to stay healthy.

Wolfram statistics are also motivation for me to live every moment to the fullest. I do not want to regret not taking chances or missing once in a lifetime experiences because numbers show that dying next year is a possibility. Each day I am faced with hearing difficulties, visual difficulties, spontaneous kidney infections, and glucose fluctuations due to metabolic problems. All the while, I’m facing each moment head strong and beating back all problems with Greek yogurt and dumbbells.

Living With Wolfram Syndrome – Lauren Gibilisco

Photo of Lauren GibiliscoI’ve had a few incidences lately due to not being able to see.

The first one was when we went to Olive Garden to eat.  When they took us to the table my mom told me it was a booth so I needed to scoot down.  So I kept scooting expecting to run into a wall but instead I almost sat right on this ladies lap that was beside me.  My mom forgot to tell me it was an open booth so there people on both sides of us.  Of course once again I was embarrassed and promptly told the lady that I was very, very sorry.  I told her I was blind and she said that’s ok, she was fine.

If I haven’t told you, I shred paper for our local telecommunication center.  Who better to do it than someone who can’t see what’s on the confidential papers.  So one day I went to get someone’s shredding and I couldn’t find it.  Usually they put it in front of me.  But this girl didn’t get up to put it in front of me and proceeded to tell me that it was over there.  I turned a few times and she kept saying over there, over there until I found it.  Once I got it I turned to her and said, “Were you pointing your finger?”  She said “yes, it’s just habit.”  Then they all started laughing because she knew that I couldn’t see.  It just a habit to point to people when they are looking for something forgetting a blind person can’t see them pointing.

I was always colorblind but now I can’t even see colors.  It is pretty much just light and dark but mostly dark.  I have trouble knowing if a light in the house is on or off during the day because of the sunlight coming through.  My mom and I went shopping and she ran into some really cute clothes that she thought my sister would like.  She turned to me and said “isn’t this cute?”  Of course she knew what she said but then she said sadly that I really wish you could see.  It’s just like a right of passage that a mother and daughter could go shopping together and have a fun time looking at clothes.  It doesn’t bother me much but it really bothers my mom.

My mom works hard during the week.  On the weekends she tries to get some projects done.  A couple of weekends ago she needed to paint the garage door.  Of course it was a very hot day. Temps were in the high 90’s.  I really wanted to help my mom out.  I like being able to do things for my mom.  So I asked her if I could help.  She struggled to find the right words to say to me. She said “I really wish you could but for one it’s too hot for you to be outside and that she really was worried I would get more paint on the driveway than on the door.” Lol.  She was probably right.  So I went back into the house feeling like a prisoner in my own home.

 

Don’t Ask Why

Last Friday, I had an unbelievable discussion with the owner of a company that has offered their help to The Snow Foundation to expand our wings.

Photo of Stephanie Snow Gebel

Stephanie Snow Gebel

At the end of the meeting, I remember walking out of his office completely perplexed.  I felt like I had just had a discussion with God, my mom, my dad, a priest, my best friend, my husband; the list goes on and on.  I felt deflated, yet uplifted. Honestly, I really didn’t know how to digest what I had just heard. He really made me think about my life in ways that I never had before.

Now, here I am five days later. I got the kids off to school, cleaned up the house, did a few bills and answered a few emails. Then, I climbed back into bed and put the sheets over my head and cried. I felt depressed and overwhelmed with LIFE. I have many questions that I want answered. I want to know WHY certain things happened.  Growing up, I always wanted to know WHY. (Just ask my sister and brother. Our family dinner discussions would last an hour longer than needed because I would go head to head with my dad on wanting to know why. I had many bruised legs from J.T. kicking me under the table, because he wanted me to shut up and let it be…).   My personal world, my business world and my SAVE the Wolfram World completely overwhelm me at times. I thought, maybe mentally I am not strong enough to handle all of this.  I laid in bed feeling sorry for myself and prayed to God for continued strength, especially strength of the mind.  The mind is so powerful and it can take you places that you really don’t want to go. Unfortunately, I have been to a couple of places that I do not wish to re-visit. Still under the covers and crying and being pissed off, a thought came to mind. I believe this came from the man upstairs. It was time to grab my phone and listen to Oprah and Deepak Chopra’s meditation message of the day.

1407946788_8402A couple weeks ago, the Foundation’s Executive Director and I had challenged each other to a 21-day meditation with Deepak and Oprah. It’s been tough because we both have four children, run the foundation and much much more, but we decided to give it a try.  When we actually keep our minds from wandering, it’s been great! Today’s message was on GRATITUDE.

“There is a deeper kind of gratitude that goes beyond our conceptions and beliefs of good and bad. This expanded sense of gratitude rejoices in life exactly as it is, right now….life is perfect in spite of its imperfections. Our heart is big enough to embrace and appreciate life as a whole, just as it is, without worrying about whether it is good or bad.”

It was great to hear that Oprah has her moments of self doubt, just like me. Oprah has taught herself to let these emotions pass and she continues to remind herself that she is “thankful for all that she has TODAY.”  I need to try and train my mind to be thankful for all that I have and know that bad things happen to good people and I may never know why. As I continue to grow day to day, I am trying to teach myself that I don’t need to know WHY everything happens. When life hands you lemons, you need to make lemonade…sometimes the lemonade is mediocre other times the lemonade is outstanding, it doesn’t really matter does it, as long as you still make it!

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.