My Wolfram Syndrome Journey – Pat Gibilisco – Pt. 1

Part I: The Beginning

My journey started 28 years ago. My daughter was two years old when she was diagnosed with Type 1 Diabetes. We were able to manage it and still live a great life. When she was 12, she started to have other health issues, specifically, problems with vision and extreme thirst. Our ophthalmologist suspected Wolfram Syndrome (WS). He noticed the pale optic nerve, and he suspected she also had Diabetes Insipidus. Our endocrinologist suspected Lauren had either a brain tumor or WS. Of course, not knowing what WS was, all I heard was brain tumor. Lauren underwent an MRI that determined she didn’t have a brain tumor, and we were ecstatic, until we learned what WS really was. I felt it was a death sentence.

Like any parent, I searched the Internet for information. Unfortunately, there wasn’t a lot of it, and what was available was so very scary. I was determined to find help for my daughter. I finally found Dr. Barrett from the UK. He told me he knew of only one other WS family in the United States. I was so excited to hear from another parent who understood my fears and questions. His family has eight children, five of them with WS. I rushed home every night hoping I had an email from him. Although he faced such a huge burden of knowing five of his children had WS, he was the most positive and spiritual person I had ever met. I could no longer avoid WS, and I decided we had to do something.

Fortunately he knew how to set up a website, and I had all the research material. Together, we started the first-ever WS family support website. My life continued to be consumed by WS, and I was on a mission to find a cure for my daughter. I called every doctor who had written articles on WS. I finally found Dr. Permutt, who had completed some research with WS. Dr. Permutt had started a small research project on WS, but due to lack of money, he abandoned it. I told him if he ever started one up again, please let me know. Nothing was going to stop me from searching for a cure.

I connected with three new WS mothers who were just as determined as I was. We researched and tried to contact anyone with information about WS that could help us. We were willing to be guinea pigs, if needed. We had nothing to lose. Meanwhile, Dr. Permutt told me he was going to St. Louis to start a small WS research clinic, although he had to start with mice. For the next few years, he kept me updated on his mice trials. Then one day he called to tell me he was starting the very first WS Registry. I was the first to sign up! It was headed by Jon Wasson. Dr. Permutt also scraped together a little money to start a research clinic, but he had no funding for participants. Money, however, was not going to stand in the way of a cure for my daughter. Seven other families and I agreed to come to St. Louis using our own funds to pay for gas or airfare, and hotel stay. We had families from New York, Pennsylvania, North Carolina, California, Nebraska and even Italy.

To be continued… Part 2 >