Care & Support

There is information on our On Diagnosis page about testing that can be done to predict whether an unborn baby is affected by PHTS or not. If you are thinking about having a baby, Pre-implantation Genetic Diagnosis (PGD) is an option available to prevent passing on PHTS to future children. Speak to your genetic specialist who will refer you to the correct hospital. PGD can be funded through the NHS, on successful application and specific criteria being met, or can be privately funded (approx. £10k). IVF is the first part of the process to create the embryos for testing, PGD is the second part of the process which is the actual genetic testing. More information on PGD can be found here: We will be creating a PGD specific page at some point in the future.
Category: Care & Support

Advice is provided on our On Diagnosis page which talks through various considerations for genetic testing.

 

You can find information on cancer risks for PHTS patients on our Screening Guidelines page with further information being available on our On Diagnosis page and in our PTEN Overview Video.

With PHTS being such a rare disease and there being only a small amount of data available currently, there are differences in opinion on the accuracy of reported cancer risks for PHTS patients.

If you are worried, please read our New to PHTS page, and also make sure you seek professional medical advice if required. Contact your GP and ask for a referral to a relevant specialist (e.g. Genetics Department, Counsellor, Oncologist) if needed. You can ask for as many referrals as you feel you need, at any time.

Please ask for a referral from your GP, or if you are already in contact with a Genetics department or counsellor, you may be able to contact them directly. This can be done at anytime, whether on diagnosis or a long time after diagnosis.

From our Useful Resources page, you can get information such as –

Information on NHS Genetic Counselling services:
British Society for Genetic Medicine: Map of Genetics Centres:

There are several Helpline numbers available on our Useful Resources page, along with some links under the Resources section to e.g. genetic counselling services, Young Mind’s guide to NHS mental health services, Mind’s guide on coping with supporting someone, Unique’s guide to dealing with what happens after diagnosis, and what local support may be available.

Category: Care & Support

There are a number of links and contact details on our Useful Resources page, there are various resources available such as Help Lines, relevant websites, social media links, online leaflets and screening guidelines.

Our private Facebook Group is a good place to ask other patients and families about their experiences, if you are interested you can sign up for our Buddy Support Scheme

It is always best to seek professional medical advice if required, so please contact your GP and ask for a referral to a relevant specialist (e.g. Genetics Department, Counsellor, Oncologist) if needed. You can ask for as many referrals as you feel you need, at any time.

Category: Care & Support

Please take a look at our Screening Guidelines page for the latest information.

These are guidelines and your doctor will tailor your screening needs based on your specific circumstances and medical history.

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