Gorlin’s Syndrome…The story I tell……
I say the story I tell because it is quite simply that. So many times I have seen medical professionals who will admit that they have only ever glanced at it in a text book or haven’t even heard of it. These people I gladly talk to and explain it in detail.
You then get the professionals that are ignorant, those who claim to know what it is and come out with “yeah, yeah, it’s that thing where you get excessive BCC’s”. Now those infuriate me, its like showing a red rag to a bull.
Anyway, what is it? I wont bore you with all the medical jargon, if you would like to read the medical jargon I have added the links to the sites that I find useful at the bottom of the post.
Simply, Gorlins Syndrome is a fault that lies in the gene that causes and controls the growth of soft tissue tumours. Now this can be anything from a skin tag and beyond. It affects approximately 1 in 31000 people that number has reduced dramatically since I was diagnosed in 2000. It is passed on through a parent, in a case of one parent having the gene mutation there is a 50% chance of the child having the gene also.
The main growths that people present with are Basal Cell Carcinoma’s (BCC’s), Jaw Cysts, Cardiac/Ovarian Fibromas and 5% of children under 5 are thought to present with Medulloblastoma (A type of brain tumour).
What do Doctors look for to diagnose?
Well they look for one of the above markers but also Gorlin’s patients could have palm pits (small red indentations that can appear in the palm of your hand or feet), an unusually sized head, a prominent forehead, skeletal abnormalities in the spine,ribs and/or skull.
This is by no means the extent of the syndrome…in fact it doesn’t even scratch the surface.
We had all our extra care during the girls pregnancies to look out for cleft lip and/or pallet, any tumours anywhere soft tissue related, any bone calcification and of course the skeletal abnormalities.
So on to our family…..
Starting from where you know, Me. So obviously my girls got the gene from me. It goes back through the Maternal side of my family. My Mum and one of her three brothers have the gene, past that we know that my Grandmother had it, as does does her cousin. My Great Grandfather had the gene and when researching where the syndrome sprung from in our family tree my Mum managed to trace it back to my Great Great Grandmother.
In 1999, my Mum went to the doctors to have what she believed to be pollip or similar looked at in her nose. She ended up having scans and biopsies performed only to discover that what she had was in fact an Ameloblastoma (A very is a rare, benign tumour of odontogenic epithelium (ameloblasts, or outside portion, of the teeth during development) much more commonly appearing in the lower jaw than the upper jaw)
They discovered upon scanning her for a second time that the tumour was in above the jaw, it had filled the soft pallet, as well as the sinus and cavity under her eye and also the one above her eye.
She was so very lucky to get the most amazing surgeon. He had only started a week or so before she was due for surgery and this was his speciality and interest. He did an amazing job of removing it.
My Grandmother also had multiple BCC’s. She had several removed under the care of James Cook hospital. If only that were it. I do not have in depth memories of what the exact series of events were but she hadn’t been right for some time. None of her nearest could quite put there fingers on what was wrong. After losing my Grandfather she went in to mourning and never really seemed to come out the other side, which was understandable as they had been together for many years.
One day she was found in the living room having had a seizure and was taken to hospital.
When all came to all she had a tumour that had in bedded itself in the cavity in between the brain and the skull.
She was promptly booked in for surgery to take a biopsy and also try and remove the tumour.
Post surgery she was placed in intensive care and never came out, passing away a few weeks later. When all came to all she had a Meningioma. The tumour had grown to the extent where it was like an umbrella around her brain, it had also grown in to her pituitary gland, meaning she had lost all sense of reasoning. The doctors had explained that the tumour had laid silently growing for years and she would have known nothing about it.
Gorlins Syndrome isn’t a nice thing to have to carry around. The constant worry of what may be growing and where can drain the living daylights out of you. Most of us walk with our heads held high and paint an image of strength to the world around us. However, only those closest to us, those who also have Gorlin’s and those who have taken the time and effort to listen or read about it will ever come close to appreciating the bad days.
I hope my little insight has inspired you to learn a little more, ask questions and for those who have Gorlins reading this, I hope this has made you realise you are not alone…….
As promised I have found these sites to be really useful in learning more……
Also for support there is our group on Facebook…..