Hi! My name is Addison and I want to share a little bit about my Gorlin Syndrome story.
When I was 14, my orthodontist found an abnormal growth on an Xray and suggested I get it looked at immediately. I was sent to an oral surgeon who removed it and sent it for pathology. The diagnosis came back as an OKC with a recommendation to have genetic testing done for Gorlin Syndrome.
At the same time, I also had two “spots” on my face that both my pediatrician and dermatologist thought nothing of, and insisted there was no need to biopsy them. I went ahead with the genetic testing and it came back negative for any mutations to PTCH1, PTCH2, and SUFU so we thought I was in the clear and didn’t actually have Gorlin Syndrome. It was only after finding a dermatologist who agreed to biopsy the spots on my face that I was clinically diagnosed with GS.
Since 2021 I have had 3 BCCs removed with a combination of biopsies, MOHS surgery, and Imiquimod cream. Unfortunately, I do not heal well from surgery and form keloids, so I have spent the past two years trying different treatments to help with my scars.
I am thankful to currently havea relatively mild presentation of the disease, and am proud to stand with others afflicted with Gorlin Syndrome.
I am also grateful for the Gorlin Syndrome Alliance for providing such a beautiful community and sense of hope for me. I was lucky enough to attend the GSA conference in Orlando this past June and the people I met inspired me with their resilience, strength and hope. It was a wonderful experience to talk to everyone and hear about their individual journeys with this disease.
I truly wish there was more funding for all rare diseases, so those affected and their families could get the treatments, answers and clarity they deserve.
I remain hopeful for the future and am grateful for the Gorlin Syndrome Alliance and the work they do everyday to help those of us affected by this disease. I believe that better treatments and a cure are on the horizon for all of us.