Gardner Syndrome is known in my family, but there is much more to learn about it. Searching Gardner Syndrome can be very overwhelming, especially if it is you, like me, who is facing the disease. Below are 3 facts about Gardner Syndrome:
1. Inherited vs New
Unfortunately anyone can develop Gardner Syndrome. It can be inherited in what they call an autosomal manner, which means that one only needs a mutation in one copy of the gene in the cell. This mutation is what is inherited from an affected parent.
Others who have no family history of GS can develop Gardner Syndrome from new mutations in the gene. This article discusses the rise in colorectal cancers in Millenials and Gen Xers, suggesting lifestyle and diet are a factor.
Anyone with GS has a 50% chance of passing the gene on to their children. As mentioned in previous post, genetic testing is available to assist with determining presence of the gene.
2. High Risk of developing Colorectal Cancer
People with Gardner syndrome have a high risk of developing colorectal cancer at an early age. Those with Gardner Syndrome also have increased risk of developing other Familial Adenomatous Polyposis related cancers such as those of the small bowel, pancreas, stomach, central nervous system, thyroid, liver, adrenal gland, or bile ducts.
It is very important to manage the disease with regular screening and monitoring.
3. Rare and Incurable Disease
Yes, Gardner Syndrome is a life sentence. It is rare and it is incurable. However, it is not the be all end all of your life. My grandmother has Gardner Syndrome and she is alive today, and she is in her mid-eighties. She has lived a full life and has partaken in experimental studies that contributed to what we know about the disease today.
There are treatments to manage the disease and to reduce the risk of cancer that will help us to live a full life, like my grandmother. These treatments include regular screening for the various polyps and tumours. Some of these screenings include sigmoidoscopy, colonoscopy, EGD, and various tumour screenings. A colectomy (the surgical removal of all or part of the colon, or the large intestine) is recommended when there are 30 or more polyps in the colon and/or, like myself, if there are multiple advanced polyps found in the colon.
An interesting resource is the GeneReviews which provides relevant and current peer-reviewed articles discussing genetic-testing, management, and genetic counselling.