Adventures in blindness – 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.

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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!

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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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2014 Wolfram Research Clinic Update

Participants of the 2014 Wolfram Clinic

Participants of the 2014 Wolfram Clinic

Updates from the 2014 Wolfram Research Clinic at Washington University

We had an exceptionally successful research clinic this year, with 24 patients and their families attending from all over the world and the US. We welcomed three new patients to our group this year and in a whirlwind 4 days, we performed 22 MRI scans and over 350 individual appointments!

We now have patients who have been seen up to 5 years in a row, providing an incredibly important view of the pattern of changes in symptoms that patients experience.

These data are now being analyzed so that we can determine the natural history of neurological changes in Wolfram Syndrome. We believe that neurological symptoms need to be targets of intervention and that we must have reliable markers of change that relate to meaningful outcome.  These are critical steps before any clinical trial can be initiated.

So far, our data indicate that there are very common, early neurologic features in Wolfram Syndrome, including reduced retinal thickness, color vision, smell identification, gait and balance and size and integrity of specific brain structures. Furthermore, we have early indications that some of these measures do not change reliably over a year’s time, whereas others may be more likely to change in a specific manner. This information could thus guide us in selecting the measures to monitor in any future clinical trial.

We hope to continue to collect data on our existing group of families, and add new families as we are able to get to these important answers more quickly and reliably.

Thank you to all of the families for participating, and to all of our colleagues and staff who helped make this unique and complicated clinic happen so smoothly.

Tamara Hershey, Ph.D.
Professor
Psychiatry, Neurology and Radiology
Washington University School of Medicine
Scientific Director of Clinic and
Principle Investigator, NIH R01 “Tracking Neurodegeneration in Early Wolfram Syndrome”

Bess Marshall, M.D.
Associate Professor
Pediatrics
Washington University School of Medicine
Medical Director of Clinic

Dr. Fumihiko Urano gave a presentation at the clinic on “A Cure for Wolfram Syndrome – 3 Steps”.  Click the link below to view the presentation.

2014 Wolfram Clinic Update

 

SaveSave

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A Mom on a Mission

Today I was riding my exercise bike and reading “The Cure” which is about a desperate father, John Crowley, who loved his children and had committed his life to finding a cure for Pompe Disease.

Photo of Stephanie Snow Gebel

Stephanie Snow Gebel

I read an excerpt towards the end of the book where John, an Ivy League graduate, had been able to pull together a $137 million company in one year.  It made me feel inadequate because I did not have the accolades that Mr. Crowley did. I felt sad because I should be doing more for my daughter.

I graduated from the University of Arizona, majored in Sociology with a minor in Exercise Physiology. I worked for the St. Louis Rams for 10 years as the Office Manager and Player Contract Administrator.  After the birth of my 1st daughter Merry, now 14, I was lucky enough to be a stay-at-home mom for her and my other three children.  As I was reading, I thought to myself,

“I wish I had the same qualifications as John Crowley and I wish I had the wealthy business contacts that he has. He made it sound so easy”.

Believe me, I have worked really hard, along with many others, to raise close to $800,000 for an “Ultra Rare Orphan Disease”, but at the end of the day, I still need more money. I need the kind of money that Mr. Crowley has raised to really make a difference. Honestly, the whole situation saddened me.  My mind started racing a mile a minute with these questions:

“What if I had gone to Notre Dame? What if my dad and mom were still alive? Oh how they would help. The contacts they would make, the money that my dad could raise. What if my dad never got remarried after the death of my mom? What if she hadn’t taken his inheritance after being married less than 3 years and estranged from him for over 1 1/2 years? Why didn’t she just give him the divorce he so wanted? Oh how I could have used that money to help this situation. What if just one wealthy individual made a donation of $1,000,000? That would change the trajectory of the current research that is taking place and would speed up the process and save these children from losing their lives and their dignity.”

I was overwhelmed with the constant barrage of thoughts running through my head. I am sure everyone has been here before with thoughts that keep multiplying, instead of working on the issue at hand. We try and think of how it could have been different. We re-direct our focus, which we think might help us momentarily, but it doesn’t at all. It makes you feel worse. I tried to keep riding my bike and continued to read, although, I was reading but you know how it is to read something but you are really thinking about something else. I put the book down, pedaled a little harder, closed my eyes and gave myself a pep talk. It was like the pep talks my mom and dad used to give me.

“This is your story Steph, not John Crowley’s, but YOUR story. Focus on the energy of today, not the energies of the past. Make the energies of today count”.

With this thought, I focused on how this energy will recharge, restore and replenish my mission, and that mission is to save Raquel and others like her.  With my pep talk, I felt better. I smiled and remembered the Chinese proverb that my old boss, Jay Zygmunt told me when I became a MOM “mom on mission”: “A journey of a thousand miles begins with one small step”. And with that, I stepped off the bike and went back to focusing on being a MOM.

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No antibiotics for me, thanks! – Adam Zwan

My uncle and aunt from New Orleans, LA are retiring and moving to Wilmington, NC during August this year. As a welcome to Wilmington party the rest of the family helped to prep my relative’s new home.

AdamWe tried to show them a good time by going to restaurants and with trips to the beach. It was all a great welcome to Wilmington venue until flights were taking off and my body started to experience health complications.

It all started in the middle of the week on Wednesday with late night shivering and hot flashes. After experiencing fever symptom for three nights in a row I was taken to the emergency room to find out what was going on. I spent Friday night in the ER waiting to hear answers. After the urinalysis, blood draws, x-rays and questioning it was finally diagnosed. Since Wednesday the fever occurrences and shivering were all symptoms of bacteria in my urinary track, bladder, and kindest.

The infections have occurred so often that I was advised not to seek antibiotics until I had a fever that would not break and or I was experiencing unbearable pain.   Thus, if I keep taking antibiotic for every infection the bacteria will evolve into an incurable one. As a result my infections are resistant to all antibiotics except for two IV antibiotics. This is my primary reason for not rushing to the ER before Friday night. Also, if the infections reach a resistance to the last two IVs then the next bladder infection will result in high blood pressure, high heart rate, and pain that will all finish with a heart attack.

By Saturday morning I was released home with three different medications to attempt until the blood cultures were executed. So right now I am experiencing any pain or shivering but the wait for blood cultures to confirm I am on the right antibiotics continues. All in all, welcome to Wilmington Aunt Gina and Uncle Rick!

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You’ve Got To Have Hope

Jack GebelLast Saturday was my 7-year old son Jack’s first football game.

The whole family went, including my brother J.T.’s 16-yr old son Shane who was visiting from San Francisco. We were all excited to go and watch these miniature NFL athletes. Raquel said to me, “mom why do I have to go, I can’t even see anything. Please let me stay home and I will play on my Ipad.” It was the first time that I noticed that for the last year I had been enabling this kind of behavior. I was not putting my foot down, telling her that she needs to get outside, enjoy everything around her, even if she can only hear the sounds, it is still worth it! A little tough love was thrown her way and she ended up going.

That event brought me to today. I had to make numerous calls to Raquel’s low vision specialists and vision rehabilitation services at her school, calls that a parent does not want to make. Raquel’s eyesight has dropped 3 lines in the last 6 months. One of her teachers even told me on the phone today, “I waved to Raquel and she didn’t wave back and she was not that far from me. Has her vision gotten worse?” It is the beginning of school and as a mom the only calls you want to make are simple ones: “Hey I need to pick Raquel up at back pick up, or what time do I need to volunteer”, not calls like “we need to discuss how my child is going to adapt in her classroom because she can’t see farther than 8 feet in front of her.” As I sit and write this blog, tears fill my eyes and my heart sinks to the pit of my stomach. My child is going blind and there is not a damn thing I can do about it (at least not in the present moment). I want to feel sorry for myself that my child is not like everyone else. This situation stinks and I want to go bury my head in a pillow and cry and cry until I can’t cry anymore. But then, I get that little nudge inside, whether it is God, my parents or my angel telling me, “don’t give up, make due in the moment and fight like hell for this child”, and that is exactly what I am going to do. I may have tears now, but I have hope. Hope that the Snow foundation will make a difference in Raquel’s life and the lives of other children that have to endure these hardships and that hope my friends, is what keeps me going.

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A Day In The Life of a Wolfram Syndrome Mom

Honestly, until last year, I have felt very blessed to be a dedicated wife and mother of four unbelievable children.

Stephanie and Raquel GebelMy brother, J.T. Snow, and I started a foundation in order to help raise money and awareness for a disease that few people knew about.  Without the Snow Foundation raising money for Washington University School of Medicine, a cure for Wolfram syndrome was going to disappear and there would be no “hope” for my daughter Raquel to live a normal life, a life that she so deserves!

Raquel was diagnosed with Type 1 Diabetes in late 2010 and up to this point all she has had to handle was insulin shots and keeping her blood sugars stable, a few accidents of bed wetting, but other than that, everything was manageable.  I have observed other Wolfram patients at the clinics the last 4 years and I always felt blessed because she could see, hear and control her bladder relatively well compared to the other patients.  Well, things have taken a turn for the worst the last year and I haven’t really wanted to write about it because I have been a bit in denial, I always told myself “this will not happen to my child, she will have “slow” progressing Wolfram.”  Unfortunately, this is not the case, not the case at all.

My journey this past year has been an interesting one, life altering, really life altering, and I hope to share some of my trials and tribulations that I have encountered since the diagnosis of my child. The experiences I have encountered as a wife, a mom and a president and co-founder of a Foundation, have been overwhelming on so many different levels, it has been an interesting ride so far. Lets just say, now I need to put on my seat belt, it is going to be a bumpy ride!

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Enhancing the Utility of Adeno-Associated Virus Gene Transfer through Inducible Tissue-Specific Expression

Publication: www.ncbi.nlm.nih.gov | Publication Date: August 13, 2014

Authors: Shu-Jen Chen, Julie Johnston, Arbans Sandhu, Lawrence T. Bish, Ruben Hovhannisyan, Odella Jno-Charles, H. Lee Sweeney, and James M. Wilson

Abstract

The ability to regulate both the timing and specificity of gene expression mediated by viral vectors will be important in maximizing its utility. We describe the development of an adeno-associated virus (AAV)-based vector with tissue-specific gene regulation, using the ARGENT dimerizer-inducible system. This two-vector system based on AAV serotype 9 consists of one vector encoding a combination of reporter genes from which expression is directed by a ubiquitous, inducible promoter and a second vector encoding transcription factor domains under the control of either a heart- or liver-specific promoter, which are activated with a small molecule. Administration of the vectors via either systemic or intrapericardial injection demonstrated that the vector system is capable of mediating gene expression that is tissue specific, regulatable, and reproducible over induction cycles. Somatic gene transfer in vivo is being considered in therapeutic applications, although its most substantial value will be in basic applications such as target validation and development of animal models.

Read the entire publication article here.

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Dr. Freireich said, “You swear to give people hope.”

Today I would like to begin by thanking everyone who has been reading my blogs.

I checked the statistics function of my blogs yesterday and found something unexpected. Several thousand people read my blogs every week! Why? I don’t know, but I was so moved and surprised. I am so glad that many people are interested in Wolfram syndrome and Type 1 Diabetes. Thank you so much. I feel grateful.

I was reading Malcolm Gladwell’s book, David and Goliath. This book describes “Underdogs, Misfits, and the Art of Battling Giants.” I am an underdog and battling giants, Wolfram syndrome and Type 1 Diabetes. So I really enjoyed reading this book. I was struck by a story of Dr. Emil “Jay” Freireich. He was an immigrant doctor and absolutely an underdog. He said, “As a doctor, you have to figure out a way to help them, because people must have hope to live. You swear to give people hope. That’s your job.” Dr. Freireich discovered a novel treatment for acute leukemia and saved many people’s lives. He received Albert Lasker Medical Research Award in 1972.
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