Living With Wolfram's Syndrome

Stephanie Snow Gebel with daughter, Raquel.

Nothing affects a parent more than finding out that your child is ill. So, when a child is found to have a rare genetic disorder that has no treatment and no cure, with a high potential to shorten that child's life span to less than 30 years, it is quite devastating.

In October of 2010, that happened to Stephanie Snow Gebel when her daughter Raquel was diagnosed with Wolfram Syndrome at the age of 5, in the form of a diagnosis of Type I diabetes. That's how Wolfram's usually presents; children are identified around the age of 4 or 5. However, that is only the beginning. Approximately 5 to 8 years after diagnosis, hearing, vision, and neurological functioning weakens until the child has hearing loss, blindness, and other neurological symptoms, including loss of control of urination and headaches. By the age of 30, 60% of those with this diagnosis die. There is no known treatment or cure.



But none of that caused Ms. Gebel to just accept fate's answer. She and her brother, J.T. Snow, a former first baseman for the S F Giants, started the SNOW FOUNDATION to increase public awareness about this disorder and to finance research towards a cure, besides supporting those who have the syndrome and their families.

Adam Zwan also has Wolfram Syndrome. He has a family who loves him. He noticed a difference in their level of concern and worry after he was diagnosed. Before the diagnosis, family visits were enjoyable and even care-free. But now, when he visits, he has noticed the tone "changed from a pleasant event to a worrisome task."

Adam now feels guilty about his visits because of their association with fear and worry. He even hesitates to just pack up and spend a weekend at a relative's home. He characterizes the conversations that he imagines his relatives have before he appears. They might think, "I hope nothing goes wrong while he's here." Then there are other concerns, "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." After Adam had some episodes of low blood glucose in the evening, his family expressed their concern by wanting a baby monitor in his room or by designating a family member to sleep on the sofa next to him in case the same thing happened while he was sleeping.

As he has said, Adam is glad to have a family that loves him so much, but his diagnosis definitely changed their amount of worry. How does Adam handle it? "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."

Adam, on the right, with some of his family members.

Whenever you notice that someone has a chronic illness, remember that a human being experiences it, one who has hopes, dreams, expectations, and the need for love and tolerance. Give a listen to some of their concerns; you'll learn so much about living and life.

Some of those who attended the Eat Drink Give fundraising event for the Snow Foundation.

Thanks for information from this blog post on the Snow Foundation by Adam Zwan: http://thesnowfoundation.org/living-wolfram-syndrome-adam-zwan/; Mom On A Mission by Stephanie Snow Gebel on the Snow Foundation homepage; and Our Story on the Snow Foundation site: http://thesnowfoundation.org/about-the-foundation/; along with the above link.

Click here to visit Vendera Publishing.

Click here: NIHONGO JAPANESE VIDEO LESSON