Shane was diagnosed with JPS in 1998
Faulty SMAD 4 gene
Recently developed Hereditary Haemorrhagic Telangiectasis (HHT)
With some Pulmonary arteriovenous malformations (PAVMs)
I was diagnosed with Juvenile Polyposis Syndrome (JPS) in 1998 at the age of 28 (I inherited JPS from my Mother). This means I have polyps growing in my stomach and colon and these must be removed periodically by the clinicians at St. Mark’s. I have the faulty SMAD 4 gene and more recently, I have been diagnosed with Hereditary Haemorrhagic Telangiectasis (HHT) which means I have some abnormal blood vessels. I also have some Pulmonary arteriovenous malformations (PAVMs).
Most of the patients at St. Mark’s have Familial Adenomatous Polyposis (FAP).
As with all the polyposis syndromes, JPS is extremely rare so the correct diagnosis can sometimes take a while. In my case, my GP at the time mis-diagnosed my symptoms as piles.
However, when the same symptoms presented themselves, I saw another GP who referred me to a hospital that performed a colonoscopy and found multiple polyps in my gastro-intestinal tract, Fortunately, I was then referred to St. Mark’s which was the best thing they could have done. I have been on the St. Mark’s books since 1998.
I take my health problems very seriously and have the required health checks as and when requested by clinicians, but other than that I like to continue my life as normally as I can. Do not give up, fight against your polyposis syndrome and live life to the full wherever possible. Peter Grainger (former Chairman of PolyPeople) advocated this approach and he has given me lots of inspiration to do the same.
If you have JPS/HHT and would like to chat about your diagnosis/symptoms etc I would be very happy to help you if I can.
If you haven’t already done so and have a polyposis syndrome, I strongly recommend that you touch base with both St. Mark’s and PolyPeople.
Please note that St. Mark’s organise a Polyposis Information Day (normally in September) and PolyPeople also attend. The information day provides invaluable information from clinicians at St. Mark’s and allows you to ask them questions. Of course, you can also meet other people with a Polyposis syndrome.
Lastly, if you can, please donate generously to St. Mark’s / PolyPeople so that they can continue to carry out their excellent work and assist special people with rare gastro-intestinal polyposis syndromes.