PTEN patient stories – Ellie

Ellie is in her 20’s and shares her experience.

  1. When and how did you first get diagnosed? 

They found out that my Dad had Cowdens about four years ago (when I was 22) and myself and my sister were then tested.  I was then diagnosed a couple of months later and my sister found that she did not have it.


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

No real symptoms however I now know that the skin lesions on my face and hands are due to Cowdens. My larger than average head is also due to Cowdens which both myself and my Dad rock! Finally in February 2014 I was diagnosed with Thyroid cancer which we now know is due to Cowdens.


  1. What impact did the diagnosis have on you?

Mainly that I have to be in charge of my diagnosis, checking and treatment.  Because I technically don’t have anything ‘wrong’ with me I just need to ensure I attend my check-ups at the hospital and check myself regularly.


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

We know about it as an immediate family and my boyfriend is aware due to potential considerations when planning children (in later life)


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

Made us invincible! Due to Cowdens myself and my Dad had Thyroid cancer at the same time and we really pulled together as a family. We also don’t dwell on it, just manage it. I have already looked into having a double mastectomy as an option to manage my risk on breast cancer, and to me it really is a no brainer, I believe if I remove my breasts my risks go from 80% to 0.8% (don’t quote me on that).  


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

Firstly online but then soon stayed away, I don’t cope with negativity. My interaction with PTEN via Findacure is my first real insight into the effects of Cowdens.


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

If you re not getting anywhere with your Dr find similar groups to PTEN Plus as they are likely to have the most powerful and caring networks.


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

N/A – yet to look after a plant effectively let alone a child


  1. Do you have tips and advice for caregivers?

Please don’t be negative, sometimes when I tell people my story I have to convince myself I am going to be okay. The look of pity that I get from some people infuriates me as I manage my Cowdens I don’t see it as a life limiting/debilitating diagnosis.


  1. What are your current symptoms?

No real symptoms I am aware of, just skin lesions on hands and face


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

For my thyroid I have had radioactive treatment and now take thyroid tablets daily. Apart from that I simply visit the hospital to have my check-ups.  


  1. How did you find a doctor?

Living in Oxford we are lucky to have an amazing genetics department. My Dr is Dr Walker and she has got to know my personality and how to explain my treatment etc.  (I am not very good with big words)


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

Absolutely amazing. Working in Marketing for a medcomms agency I see daily the exceptional work which goes into curing and treating all sorts of medical issues.  I do feel that there is a lot lacking in the awareness and understanding of Rare Diseases which is why I have got involved with the PTEN Patient Group.


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

I was not allowed a hot stone massage at the weekend because I have only been all clear from cancer for two years! (needed to be 5) not happy… also, I have been refused life insurance which is a bit of a kick in the teeth but once I got my head around it and was reassured it doesn’t bother me now


  1. What are your thoughts for the future?

Bring it on! I have the most amazing boyfriend who is behind me every step of the way. We have already discussed how my gene mutation will impact our family planning and will both look into options for this. In terms of my health I feel positive that this diagnosis has given me an awareness of my risk and I am willing to take all measures to ensure I live the longest and happiest life I can. In the end I may have no boobs, no womb etc. due to these risks, but if it means I can grow to see my grandchildren wouldn’t anyone chop them off?


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

I think the spectrum is so large and everyone is so different so it is hard to give one particular bit advice.   I would just tell people to listen and care for themselves as it is not a diagnosis more a situation that needs to be managed.