PTEN patient stories – Sarah

Sarah shares her experience

  1. When and how did you first get diagnosed?  I was first diagnosed because of my niece. When she was born, they noticed she had a big head so they did some tests, which led to my sister being told that she had cowden syndrome. Both my sister and her boyfriend were tested to see which side of the family it came from, and they found it in my sister. I had the choice to be tested so I did and this led to me finding out.                                                                               
  2. What symptoms prompted the PHTS/Cowdens/BRRS diagnosis? The only symptom that led to this was the big head. I always knew I had a big head but I didn’t know it was connected to anything until I found out about cowdens syndrome.
  3. What impact did the diagnosis have on you? There is no major impact at the current time. I have to make sure I attend yearly thyroid scans and breast screenings but this is all at the moment.
  4. Have you explained PHTS/Cowdens/BRRS to family members? All of my immediate family know about it and I find it to be a comfort as I have people I can talk to about it. My husband also knows about this as we were together when I first was given the diagnosis and this has affected our plans for children as there is a lot more to think about.
  5. What implications do you think it has had on your family? There is no real implications yet but this will all change. My husband and myself had an appointment with the genetics doctor in February to discuss children and we have decided to go down the route of IVF PGD.
  6. Where did you go for more information on PHTS/Cowdens/BRRS syndrome? I have found the Pten support groups to be a great source of help as I can talk to someone who knows how I feel!
  7. Do you have advice for people who are looking for a diagnosis? Don’t be scared. You many read things that may be overwhelming but there is a lot of support around. When I first was told I had cowdens, I was upset because of what I read. I have now spoken to other people and I feel happier and know I have people around to talk to.
  8. If you have children, has PHTS/Cowdens/BRRS affected you as a parent? E.g. telling your children, starting a family, genetic counselling. We have not had children yet but we are waiting to start IVF PGD.
  9. Do you have tips and advice for caregivers? Just be there for them. My mum and husband do not have this but I know I can always talk to them. They have supported me throughout this and even came to the patient day so they could both learn more. When I go to appointments, my husband always chips in with the questions if I start to feel nervous and do not know what to say!
  10. What are your current symptoms? No real symptoms apart from the big head.
  11. What treatment are you having, and have you had? I have yearly thryoid scans and always breast screenings now I have turned 30. I am on thyroxine as well. I made the choice to have my right thyroid removed as there were nodules.
  12. How did you find a doctor? I was referred to my doctor because my sister and niece have had dealings with her. She is always very helpful and has said if we ver need to ask a question, we can just phone her up.
  13. What has been your experience of the healthcare system and healthcare professionals? To be honest, my experience hasn’t been that great. When I had my right thryoid removed, the doctor was fantastic and supportive. When I go to my local doctors surgery, I always have to explain about cowden syndrome every time. I have even seen the doctor use google to find out more. I go to my doctors to sort out my thryoid scan and every year, I always get why I need this.
  14. Has PHTS/Cowdens/BRRS had any health insurance implications for you? Not as yet.
  15. What are your thoughts for the future? We saw the genetics doctor in February to be referred for IVF PGD so we are just waiting to hear when this can all start.
  16. What advice would you give to someone who has just been diagnosed with PHTS/Cowdens/BRRS? Don’t let it overwhelm you. I spent a lot of time at first getting quite upset and even now, I get scared. I have my breast screening tomorrow and I am very nervous because of the high risk. Talk to your family and be open about. We may be rare but people care and there are others out there who are going through the same thing.