New to PHTS

You’re here because you’ve either been recently be diagnosed, or suspect something.

You probably feel worried after having searched on Google and if you’re the patient you’re asking yourself questions like: will I get cancer, how long will I live, why is there so much uncertainty and conflicting information? Or if you are a parent, questions like: will my child ever talk, what do I tell them and when, and will they have a happy and normal life?

You’re probably wondering if you’re the only one, why did it happen to you, and what do you do now?


This is just a quick message to say you’re not alone, your life is not over, and this is a big PTENUKI hug for reassurance.


Even though PTEN / PHTS is a rare condition there are lots of people who are impacted by it across the world and we can help get you in touch with the global community and those more closer to home in the UK and Ireland.

We don’t have all the answers, and we can’t fix things or make things go away, but we are here to help and support. We have all been through what you are now going through and we can share our own experiences. 


We’ll be updating this page with some more detailed information in the coming months, but in the meantime these are some steps of what you might be going through or may need to go through, maybe having entered at different points or gone through them in a different order…

  1. You may have a child who has developmental delays or has a large head, or you may have had health issues all through your life with uncertainty on what causes it, or you may have recently been diagnosed with cancer.
  2. You have probably had discussions with your GP /doctor, and been referred to or seen other medical specialists.
  3. You may have been referred to a Genetics Centre for a consultation or a genetics test, or are thinking about whether you should be.
  4. If you have been tested you may be waiting for the results and to speak to someone about the results and what they mean.
  5. You may have been misdiagnosed several times or may still be undiagnosed but have PHTS-like symptoms.
  6. You may have had your diagnosis confirmed and are now thinking about what do I do next and how do I manage the condition.


Unfortunately there are many uncertainties with PTEN/PHTS as there are a wide range of issues and severity. Not enough is know about it yet, but things are improving and PTENUKI is helping progress a number of areas.

These are some first steps of what you should think about doing…

  • Join the PTENUKI Private Facebook group to meet people, ask questions, get information and share experiences.
  • Follow our Facebook page and Twitter account, and sign up for our newsletter at the top of the page for regular updates.
  • Read the information on our website, especially the About PHTS and On Diagnosis pages.
  • Talk to your GP / doctor – tell them everything you think they should know, and be persistent and firm about what you need and when.
  • Work out with your GP / doctor whether you should be tested, who you should be seeing and find good supportive specialists for your needs e.g. a paediatrician, endocrinologist, oncologist, clinical geneticist.
  • Start logging everything that happens so you can refer back to your medical history when needed.
  • Consider what you need to do about routine screening and health checks.


There a lots of things you will need to learn and begin to cope with, but get in touch and you’ll realise you’re not on your own.

Ian – Autumn 2017