My name is Margaret Emery. I live with my husband Paul and our two sons Damian (who has Gorlin Syndrome) and Simon in Highbury; a suburb of Adelaide, South Australia in Australia. This is our story . . .
In 1989 the oral surgeon, treating my then 14 year old son for cyst and teeth problems, asked if I would take Damian to the Women’s and Children’s Hospital in Adelaide to assist with research. I can vividly remember walking into the professor’s room and him telling ME, “YOU have Gorlin Syndrome”. Hey, wait a minute, I am here for my son. NOT FOR ME. My large head and facial features were clear evidence for him to tell me the news. After extensive tests, x-rays etc. it was confirmed BOTH of us had the condition. What a wonderful 40th birthday present!!
After so many years of wondering, was this the answer to why I missed a lot of my intermediate year; continually healing from cyst problems? To think my parents were first told that an “impacted tooth” was the problem and would need to be removed. Thank goodness they sought a second opinion! What about the times I haemorrhaged and had to have a blood transfusion. After one operation I can remember my father asking me if I wanted to see my face in the mirror. It was so swollen. I could not bring myself to do so. The time my parents were told that I was not expected to live through the night, but I AM STILL HERE!!
About the time of my diagnosis, I had been referred to a dermatologist for a rash on my legs. Yes, they were skin cancers; unusual though to have so many on my legs! Upon confirmation, I remember contacting the doctor to say, “Guess what, I have some news. (No, I am not pregnant!) I have Gorlin Syndrome.” He had previously asked me to find out from my parents if they ever gave me a Bells Tonic, which contained arsenic and could trigger skin cancers. No, they had not, was thankfully their response.
After 23 years of constant appointments with my dermatologist, we have witnessed every kind of treatment possible. Thousands of skin cancers have been removed. Aldara Cream has been tried, at times with moderate success. (At the moment I am using Aldara and it does seem to be working.) Interferon injections have been ineffective for me. I have had considerable Mohs surgeries and would have to say my worst one was about three years ago. There were two areas of skin cancers removed from my scalp which resulted in two large skin grafts being taken from my thigh to cover the affected areas. A plastic surgeon worked with my dermatologist “on this project”! The recovery process took time. From the back I look like Friar Tuck! As hair will not grow back, I had to face another challenge; wearing a wig. It took considerable time to adapt, but am okay with this now.
I am very fortunate to have trust and confidence in my dermatologist. My only gripe is his choice of music! I am thankful to him for only taking Medicare and/or Private Health Fund payments for the length of time I had been going to him. He always looked forward to the challenges I presented! At the end of last year he retired, and I now have another excellent dermatologist.
Having cellulitis on my legs a couple of times resulted in my dermatologist being very wary to do further surgery on them. For the past eleven years I have been having PDT treatment at the Royal Adelaide Hospital, mainly on my legs. Trying to remember from the first treatment to the next as to the areas treated was a real concern in the beginning, but thankfully photos taken now have fixed that problem. Again, no payment is required by me for these treatments.
I also go to an eye specialist, where I have had numerous cysts removed from my eyelids. He continues to check on my eyes.
Also, I have regular Pap Smears and internal Ultrasounds, but thankfully to date I have not had any problems.
A few years ago I had a large cyst on my lower jaw going from just below my ear to the center. My dentist referred me to a specialist, after wondering why this blister type swelling had appeared. What annoyed me was the specialist said it had probably been lying dormant for about five years and had gone undetected. This specialist did “a first” for him by inserting something like a small medical cotton reel in my jaw line. Whereby, with daily syringe washing by me for a period of twelve months, the cyst would shrink small enough for him to then operate and remove. This was successful; better than breaking my jaw! Yearly check ups have revealed the healing process successful and there have been no further jaw cysts.
This year my name was put forward as a candidate for the new drug trial, but after an appointment to check if I had any cancers fitting the required measurements, etc., it was found that I was not eligible to proceed.
As there is supposedly no history of skin cancers or jaw cysts in my family history, I have been classed as the carrier and, as mentioned earlier, passed it on to my son. Both of us have been to a geneticist. She said it is clear we have the condition. It has been suggested that my son have two blood samples collected for the genetic test, to confirm the research findings from 23 years ago. Once this has been confirmed, other family members can have a genetic test to determine if they have or have not inherited the mutation.
I am very fortunate to have a fantastic team of medical people assisting me on my journey with Gorlin Goltz Syndrome. I also cherish my Adelaide circle of Gorlin friends and value their encouragement, inspiration, humour, courage, support and friendship whenever we get together and/or by email. I value the constant and hard work of a dear friend and her husband in Melbourne who got us all together in the first place and continues to keep us well informed through emails and personally on all matters of life, at the same time dealing with her own challenges. My family support is with me on my journey. My gift of faith is precious to me and a daily constant companion.
It was a pity it took so long for me to be diagnosed with Gorlin Goltz Syndrome. As a mother it is not something I wished for my son to inherit. We are trying our hardest to spread awareness of Gorlin Goltz Syndrome to the people we come in contact with. The areas of support are welcoming, friendly and highly recommended.