PTEN patient stories – Mike

Mike is in his 60’s and shares his experience.

  1. When and how did you first get diagnosed? 

Approx 2013


  1. What symptoms prompted the PHTS/Cowdens/BRRS diagnosis?

I had a number of colonoscopies and there was a tendency for polyps to be found. On the basis of this a referral was made to the genetics clinic where diagnosis confirmed


  1. What impact did the diagnosis have on you?

Not a lot if I am honest. I had had my 60th birthday and felt fit. Also I have been diagnosed with Mosaic Cowdens


  1. Have you explained PHTS/Cowdens/BRRS to family members?



  1. What implications do you think it has had on your family?

My youngest daughter has had a diagnosis confirmed. We both have had our thyroids removed as cancerous but apart from that she has been fantastic


  1. Where did you go for more information on PHTS/Cowdens/BRRS syndrome?

There is an excellent genetics unit at Oxford University Hospital


  1. Do you have advice for people who are looking for a diagnosis?

Each year I am tested for colon, skin, kidney and gastric cancers. I treat these as an MOT and am thankful for the work of my local hospital in achieving this especially seeing that I have lost friends of my age to cancers. So it is important to look at the internet to see if  you have characteristics of Cowdens, but no further. Then book a GP appointment, ask them to look up what Cowdens is and then ask them for a referral to a Genetics Consultant


  1. If you have children, has PHTS/Cowdens/BRRS affected you as a parent? E.g. telling your children, starting a family, genetic counselling.

Not a lot. My youngest was 22 when diagnosed and she has handled it in a fantastic manner, her positivity is unbelievable


  1. Do you have tips and advice for caregivers?

I cannot comment really on this as in my opinion the effects of CS on me has been minimal


  1. What are your current symptoms?

Tendency for polyps internally and small warts on my hands


  1. What treatment are you having, and have you had?

Outlined above


  1. How did you find a doctor?

Outlined above


  1. What has been your experience of the healthcare system and healthcare professionals?

Oxford University excellent. With GPs, I found I usually know more than them


  1. Has PHTS/Cowdens/BRRS had any health insurance implications for you?

No, never taken any out. Also for me it is the increased likelihood of cancers and does not mean I have cancers. For thyroid cancer travel insurance, will not treat any further thyroid problems, but I am not expecting any


  1. What are your thoughts for the future?

I am now 66 and my thoughts for the future are positive. I look after myself, I am fit and I eat well. I know the increased likelihoods of cancers but I am annually screened and as said above I have seen friends and relatives who were Cowden free struck down by this horrible disease of cancer.


  1. What advice would you give to someone who has just been diagnosed with PHTS/Cowdens/BRRS?

I am not sure whether I am someone to offer this advice as it has had such a minimal impact on my life. What I would say it is the increased likelihood of cancers, with good screening this can be managed.



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