On Sunday, March 20, 2016, Team Alejandro participated in The Oakland Running Festival in their 6th Annual Run to Beat Wolfram Syndrome! Team Alejandro ran in support of 12 year-old Alejandro Jimenez (a Wolfram Syndrome Patient) as well as all children and young adults affected by Wolfram Syndrome. They successfully raised $12,374.00 which will help The Snow Foundation increase awareness of Wolfram Syndrome and find a cure.
Hello everyone. My Botox surgery was a success. I am happy to report that I am getting up only two or three times a night instead of every hour. I don’t feel as tired anymore through out the day. This has made me feel so much better. I am able to drink a lot more and hold a lot more than every before. This gives me a lot more energy so I can talk a lot more which is just what my mom needs. LOL.
I was also able to go back to my volunteer job this week where I shred paper. Who better to shred confidential papers than someone who can’t see anything on them. ha-ha. I’ve had this job since high school which I really enjoy. The people there treat me like anyone else. They don’t pity me. In fact quite the opposite. They love to give me a hard time and tease me. It’s hard to know who is getting more harassed, them or me. My mouth is the only part of me that is not affected by WS.
I should back up and tell you a little about me. I am affected by all aspects of DIDMOAD. DI (DIABETES INSIPIDUS), DM (DIABETES MELLITUS), OA (OPTIC ATROPHY, D (DEAFNESS). I am legally blind and use a cane to get around. I wear hearing aids for high frequency hearing loss. I was diagnosed with Diabetes Mellitus when I was two years old and take insulin shots. The Diabetes Insipidus is controlled by medication. I take 20 prescription pills every day to control my WS. I was diagnosed with WS when I was 12. I have other symptoms but I will talk about them another day.
Have a great week everyone.
The Zwan family celebrating Christmas with their festive holiday sweaters.
A Little Worried?
I feel lucky to have a family that loves me as much as they do but like everything in life there are some consequences. Before being diagnosed with diabetes and then Wolfram Syndrome, I could visit family members and make it an enjoyable event. I still enjoy seeing family but my presence has changed from a pleasant visit to a worrisome task.
In previous years I would pay visits to parts of the family and there would be lots of food, fun, and laughter. In the past few years I have felt guilty for creating so much fear and worry that I think twice before packing a bag to stay the weekend at someone’s house. The fear and worry that I speak of is due to my health and its complications creating this mindset of “I hope nothing goes wrong while he’s here.” My visiting experiences are filled with “can Adam eat this?, has Adam ate enough?, is Adam in pain?, does Adam need to go home early?, Lord I hope nothing happens while Adam is here.” I have had one or two issues with glucose levels during the evening that no longer occur but each time I stay somewhere my family is adamant when using a baby monitor and or sleeping on the sofa next to me just to make sure nothing occurs while sleeping.
I am very thankful to have a family love me as much as I do but pleasant experiences have certainly changed due to Wolfram Syndrome. When I get the feeling that I am a fly in the ointment and not a pleasant visitor I just grit my teeth and say that it could be worse so accept it and count my blessings. I try to stay optimistic by hoping and praying that something will change for the better in the near future.
The story was to show what it is like for Adam to live with Wolfram syndrome. That night, Adam began to experience severe abdominal pain and was rushed to the hospital where he remained for a week. Despite the delay from Adam’s hospital stay, the news team came back to finish their story. Here is the five minute video on our good friend, Adam Zwan, where you can see for yourself the courage and spirit Adam exudes every day.
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Steps toward a cure for diabetes and Wolfram Syndrome are being made and successful results are occurring in scientific research. The treatments are not yet available for Wolfram patients so it’s wise to attempt slowing Wolfram progression until treatments are available. In addition to being a Wolfram patient I am also a huge advocate for correcting one’s health on one’s own without the use of prescriptions.
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I received a great email today from a mother who teaches 4th grade PSR (Parish School of Religion) at our church St. Clare of Assisi.
She told me that at the end of their Monday night class, they around the room and each child will pray for someone or something important to them. She said one little guy in particular wanted to pray for a classmate who had diabetes and that he hopes we find a cure soon because he does not want her to hurt anymore. The classmate he was referring to was my daughter, Raquel. When I read this email, it touched my heart and brought a smile to my face. The hardest audience I have ever spoken in front of, (600 elementary children), actually understood what I had said to them during our Diabetes Awareness Month assembly at Babler Elementary. It warmed my heart that this little boy had comprehended that one of his classmates is struggling with her health. It was worth it and if I had to speak to a million elementary school kids…I would! It goes to show you that if we all try and spread the word about Wolfram syndrome, we just might raise enough awareness and support for the research that will one day revolutionize the diabetic world and save the life of my daughter and others like her who are living with this horrific disease. In the meantime, I’ll keep working and sharing our message because you never know who’s listening.
I have always had great intuition (good or bad), ask my friends and family! The Snow Foundation has hired a new President and CEO, Dr. Saad Naseer, who is driven and ready to make our dreams become reality. The foundation is finally receiving the full time attention and direction it deserves, which means Wolfram syndrome patients are going to get the help and their prayers answered. I am excited to spread the word and I mean really spread the word and I am more excited that Snow Foundation has the leadership to make it happen. My prayers have been answered and I am grateful. This year is going to be revolutionary, great changes are coming.
Publication: www.ncbi.nlm.nih.gov | Publication Date: February 4, 2016
Authors: Umut Özcan, Erkan Yilmaz, Lale Özcan, Masato Furuhashi, Eric Vaillancourt, Ross O. Smith, Cem Z. Görgün, and Gökhan S. Hotamisligil
Endoplasmic reticulum (ER) stress is a key link between obesity, insulin resistance, and type 2 diabetes. Here, we provide evidence that this mechanistic link can be exploited for therapeutic purposes with orally active chemical chaperones. 4-Phenyl butyric acid and taurine-conjugated ursodeoxycholic acid alleviated ER stress in cells and whole animals. Treatment of obese and diabetic mice with these compounds resulted in normalization of hyperglycemia, restoration of systemic insulin sensitivity, resolution of fatty liver disease, and enhancement of insulin action in liver, muscle, and adipose tissues. Our results demonstrate that chemical chaperones enhance the adaptive capacity of the ER and act as potent antidiabetic modalities with potential application in the treatment of type 2 diabetes.
A quick description of my job; work 24/7, deal with scientists, researchers, doctors, philanthropists, sports figures, political figures, full time advocate for rare disease, counselor for parents and patients, breakfast, lunch, dinner meetings, travel around the world, public speaker, accountant, secretary, marketing and most important Fundraiser.
Combine all the above and they do not equal what it is like to fundraise. For anyone who has ever had to go out and ask for money, it is not fun. I hated it at first but now to be honest, I am learning to like it. Because each morning that I wake up and see my beautiful 10 year old daughter Raquel slip farther and farther away from her independence, it makes me very mad. Mad, because we are sitting around waiting. Our research is on hold, our clinical trials are on hold, drug therapies are on hold. The only thing holding us back is MONEY. We need a minimum of $4M to do the necessary research on the eyes, ears, brain and bladder and begin clinical trials on drugs that could possibly stop the progression of this disease and may even restore vision. As per experts, as we get into trials we may need to adjust this amount, but we cannot wait till we have perfect knowledge. We need to act NOW to save our children. MONEY does make the world go round, without it, these patients don’t have a chance.
Please visit our crowdfunding campaign at Snowfunds.org. We are asking you to contribute and spread the word and support our humble cause. Thank you.
Publication: www.ncbi.nlm.nih.gov | Publication Date: January 7, 2016
Authors: Fumihiko Urano
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis of this syndrome is currently poor, and many patients die prematurely with severe neurological disabilities, raising the urgency for developing novel treatments for Wolfram syndrome. In this article, we describe natural history and etiology, provide recommendations for diagnosis and clinical management, and introduce new treatments for Wolfram syndrome.
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