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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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.

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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.

https://www.youtube.com/watch?v=QFzMP-UNwLs

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.

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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. 

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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.

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Developing novel therapeutics to stop the progression of eye diseases

Some people say that it is not realistic to develop a novel therapy to stop the progression of eye manifestations in Wolfram syndrome. I don’t agree.

It is possible. If we can modulate ER stress in retinal cells, we can slow or stop the progression of optic nerve atrophy in Wolfram syndrome. I have found a biotech company in Seattle that is developing novel therapeutics for “sight-threatening” eye diseases. If they can do it, we can do it.  http://acucela.com/About-Us

A tablet for eye diseases?

The biotech I mentioned above is taking a very interesting strategy. They are trying to use a tablet (i.e., a pill) for delaying the progression of eye diseases.
https://clinicaltrials.gov/ct2/show/NCT02130531?term=acucela&rank=1

I was envisioning that I would use ophthalmic suspensions (eye drops) or intravitreal injections (injection into eyes) for stopping eye manifestations in Wolfram syndrome, but we should also think about using pills.

 

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It’s so close! – Adam Zwan

Photo of Adam ZwanIt is difficult not to imagine what the future may hold when medical breakthroughs are on the horizon. Conversations took place during the last Wolfram clinic regarding clinical trials next summer. Clinical trials are fascinating movements forward in the lives of Wolfram Syndrome patients.

After hearing the news that research is going well and treatments are a possibility, I cannot stop thinking about how my life with Wolfram Syndrome may turn a corner in the years to come. Chasing glucose levels, vision loss, hearing loss, kidney failure, and many other complications due to Wolfram Syndrome will all be dealt with in simpler terms if clinical trials are a success. I think a unique treatment for Wolfram and or even diabetes would be as big as Bill Gates and Microsoft.

Even though having high hopes and dreaming of what could be can set a person up to be further disappointed; hope is one of the driving forces behind life’s remarkable occurrences. I dream everyday about getting a full nights rest and not having to wake up every two hours to check my glucose, as well as not experiencing mood swings due to glucose fluctuations all day. Also, I hope to be able to see and hear well enough to drive myself where I need to go and be able to not hassle with visual and hearing difficulties at work. Then there is the hope of being able to eat a well balanced dies and not eliminate certain food groups so that I can stay out of the emergency room. It is so close I can feel it because if Dr. Urano’s medical breakthrough is a success all my prayers will be answered.

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