Mike is in his 60’s and shares his experience.
- When and how did you first get diagnosed?
Approx 2013
- 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
- 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
- Have you explained PHTS/Cowdens/BRRS to family members?
Yes
- 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
- Where did you go for more information on PHTS/Cowdens/BRRS syndrome?
There is an excellent genetics unit at Oxford University Hospital
- 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
- 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
- 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
- What are your current symptoms?
Tendency for polyps internally and small warts on my hands
- What treatment are you having, and have you had?
Outlined above
- How did you find a doctor?
Outlined above
- 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
- 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
- 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.
- 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.
