PTEN patient stories – Ross

Ross is in his 20’s and shares his experience.

  1. When and how did you first get diagnosedSigns where there when I was in Primary School at the age of about 6 or 7, and they found 2 lumps and unusual symptoms. This was around 15 years ago and I was young at the time, but from what I remember it took serval years before being diagnosed and several trips to hospitals to speak to other people such as a hospital in London, because at that time they didn’t know what they were dealing with. It was just by chance and luck the hospital I went to hired a US Medical Professional who specialised in similar areas to my condition and they formed a genetics department. This allowed them to work out a course of treatment. Thankfully there’s more people out there that can help. As the medical world has moved on massively in 15 years.
  2. What symptoms prompted the PHTS/Cowdens/BRRS diagnosis? It took until my first operation had been done to get a diagnosis because they took a lump they removed away and did lots of test on it. It was later discovered to be Cowden’s and I was lead to believe at the time I was the only person or one of the very view in Scotland to have this condition.
  3. What impact did the diagnosis have on you? I was young and didn’t understand what was going on. It had more of an impact as I got older. It effects my self-esteem from time to time but I treat my appointments like an MOT. I get myself checked out and try to make it my goal to ensure everything is fine and I can go home. It’s also about getting the balance right, prioritising and managing things properly.
  4. Have you explained PHTS/Cowdens/BRRS to family members? My family know all about it, it’s just hard to explain to friends and other people. Sometimes things are better left unsaid as the song goes.
  5. What implications do you think it has had on your family? It’s brought us closer as a family and its led my Dad to find out he’s the gene carrier and also be diagnosed with a milder version of the same condition, and he has had his thyroid removed. My Mum was given the all clear but my brother hasn’t been tested but has no symptoms so there has been no urgency for him to do so.
  6. Where did you go for more information on PHTS/Cowdens/BRRS syndrome?  My Mum reads up on it more than I do and I try to avoid reading these things as I struggle normally to find anything positive.
  7. Do you have advice for people who are looking for a diagnosis? Speak to your Doctor and get as much advice as possible. Things are better than when I was diagnosed! Also join Facebook groups for people with your condition. It’s a chance to see you’re not alone and you can get advice from people going through the same thing.  
  8. Do you have tips and advice for caregivers? Be understanding and not look at me like I’m an alien from mars LOL. I don’t see it as a life limiting/debilitating diagnosis.
  9. What are your current symptoms? Skin Tags, Lumps and Bumps etc.. Thankfully I have had nothing on my face so nobody would know about it by looking at me. Apart from my large head.
  10. What treatment are you having, and have you had? No treatment currently. Treatment I have had has been operations and laser treatment.
  11. How did you find a doctor? Lived near Dundee in Scotland and went to a hospital in Dundee. After months of finding help and various visits to other hospitals. A genetics department was created. When I moved to near Glasgow 7 years ago I was referred to a Doctor Mackay. He’s very laid back compared to consultants in Dundee but is a busy man and sometimes I have to speak to his registrars. Some are more helpful than others.
  12. What has been your experience of the healthcare system and healthcare professionals? It has its highs and low points. I think it’s mainly down to a lack of understanding of my condition.
  13. What are your thoughts for the future? I hope I can find a girlfriend that understands what I have going on and I have learnt as a whole to take each day as it comes. Of course, there are concerns with regards to repeating treatments and what the long-term effects will be but I have been lucky that nothing I have had so far has been life threatening so long may that continue!
  14. What advice would you give to someone who has just been diagnosed with PHTS/Cowdens/BRRS? Know that you’re not alone and make sure you have family and friends who can help get you through it. Its also good to have a hobby to keep your mind of things.