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

 

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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.

No antibiotics for me, thanks!

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!

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.

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!

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.

iPS cells and Personalized Medicine

We have created many induced pluripotent stem cells (iPS cells) from skin cells of Wolfram syndrome patients.

Because these cells can be differentiated into any types of cells, including brain cells, eye cells, and insulin-producing pancreatic cells, we can use these cells to replace damaged tissues in our patients in the future.

In addition to this, there is another advantage in making iPS cells. We can use these cells now. We can test the efficacy of different candidate drugs using brain cells and eye cells differentiated from iPS cells. It seems like that patients’ cells respond to different treatments based on their genetic make-up. So these cells are useful for designing personalized medicine for the treatments of Wolfram syndrome. This would apply to any other diseases. Thank you again for donating your cells. I would like to expand this program and make iPS cells from all the patients with Wolfram syndrome in the world.

A platform for providing the best treatment for patients with ER Disease: Personalized Medicine

I think about this topic every day. I firmly believe that our future clinic for Wolfram syndrome and other ER stress disorders should provide “Personalized Medicine.” This 2 min-video explains about the personalized medicine very well.

Why? As I mentioned before, each patient is different, and should be treated differently. The key is to obtain complete family history and genetic information from each patient. Exome sequencing and genome sequencing should be integrated into our clinic to design the best treatment for each patient.

The article I read over and over

I have read many articles related to Wolfram syndrome.

The most-read article is entitled “Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome” describing the natural history of Wolfram syndrome. This article was written by Timothy Barrett, MB, BS (MD), PhD in 1995.
http://www.ncbi.nlm.nih.gov/pubmed/7490992

I read this paper over and over when I started working on Wolfram syndrome in 2002. I recommend that all the researchers in diabetes, neurodegeneration, and genetic diseases, read this article. 

Regenerative Therapy and Modern Medical Genetics

I think a lot about a new platform for endoplasmic reticulum disease and other rare diseases.

The new clinic requires new expertise in addition to conventional neurology, ophthalmology, and endocrinology. I feel that regenerative therapy and modern medical genetics based on high-throughput sequencing are the key players.

I found an interesting video describing regenerative medicine.
https://www.youtube.com/watch?v=v-Q2kghHwq4

I hope you will have the best week in your life.