#21 Wolfram Syndrome with Parent Pat Gibilisco

We are releasing this episode in honor of Wolfram Syndrome Global Awareness Day which is celebrated on October 1st. The Wolfram Syndrome community worldwide is working to increase awareness and ultimately find a cure for Wolfram Syndrome. To learn more about Wolfram you can also listen to Episodes 3, 5, 9, and 18 of It Happened To Me.

 

Pat Gibilisco is Patient Advocacy Liaison for the Snow Foundation for Wolfram Syndrome research. Pat is Co-Founder of the first Wolfram Syndrome Website and Family Support Group, which launched in 1998 when her 12-year-old daughter, Lauren, was first diagnosed with Wolfram Syndrome. In 2021, Lauren passed in her mid-30s. 

 

In the 90s, Pat contacted Dr. Timothy Barrett, the only known doctor affiliated with this disease, and with Dr. Barrett’s help she was introduced to other Wolfram families. In 2000, Pat contacted the late Dr. Alan Permutt who discovered the WFS1, Wolfram gene. Pat was instrumental in getting Dr. Permutt to Washington University in St Louis. Dr. Alan Permutt conducted the first Wolfram syndrome research clinic, which included Lauren and six other patients in 2010.

 

Pat is the administrator for the Wolfram Syndrome family private Facebook page. She is passionate about educating and supporting patients, families and caregivers affected by Wolfram syndrome. She offers valuable insight, and resources and connects others who live with this rare disease. She is committed to growing the patient advocacy community, which currently includes over 370 families. Pat is and Lauren was, a strong advocate for Wolfram Syndrome and have spoken at several Wolfram Syndrome fundraisers to help raise money for research and ultimately a cure. 

 

In this episode we discuss Wolfram Syndrome, a rare recessive genetic condition. Wolfram Syndrome is difficult to diagnose but symptoms include diabetes, optic nerve atrophy, vision loss, deafness, loss of taste and smell, and urinary and bladder dysfunction. Our co-host, Cathy Gildenhorn,  was diagnosed with a mild, adult onset variant of this neuro degenerative syndrome. 

 

Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. 

 

It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today’s Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.

 

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