The third national PTEN / PHTS patient day held on 11th November 2017 was attended by over 80 people. Once again Salesforce kindly provided the venue and staff to host the day at Heron Tower in London, providing a fantastic opportunity for people to make new friends, learn more about PHTS, and take part in a variety of sessions.
Ian Stock, Chair of Trustees of the newly founded PTENUKI patient group, welcomed all present and set out the agenda for the day. He was able to show the new www.ptenuki.org website, introduced the Trustees and their roles, and to report that that we are now an officially registered charity (Charity No. 1172205). One aim of the Patient Day was to consider unmet needs and priorities for patients and families going forward. A call was made for anyone who would like to take a more active role in helping organise the charity’s activities to speak to one of the Trustees or contact them after the event.
Four breakout sessions below were held during the morning which resulted in lots of useful information being shared, sources of support identified and follow up networking groups being established. If you’d like to join the Women’s PTENUKI WhatsApp group, please contact Ellie Collins.
- A PHTS Overview led by Katherine Lachlan
- A Men’s session led by Mike Collins
- A Women’s session led by Ellie and Jenni Collins
- A Parent’s session led by Mark Kearley
The next session was delivered by Emily Pond (Genetic Counsellor) and Katherine Lachine (Consultant Geneticist), both from University Hospital Southampton, on the availability of Support and Counselling for patients and their families, along with some additional information and leaflets provided by Mark Kearley. Genetic Counselling can provide a wide range of support from learning about a genetic condition, understanding associated risks, advice on whether other family members are affected or if you want to have another child, to talking to your children, discussing genetic testing and understanding test results. You can ask your GP and/or your geneticist to be referred to a Genetics Counsellor, and one of the key takeaways from the session was that you can ask to be referred as many times as you need, even after diagnosis, for help with children as they grow up or adults facing new symptoms and issues.
There are several new Resources now added on the Care & Support page resulting from the session:
- Nottingham University Hospital: Talking to children about genetic conditions
- Unique: After diagnosis, what happens next? The EarlyYears
- Mind: How to cope when supporting someone else
- Rare Disease UK: Living with a rare or undiagnosed condition
- Information on NHS Genetic Counselling services
After a lovely pizza lunch, the sessions focused on PTEN research with a report from Dr Maria Whitehead (Director of Research at the PTEN Research Foundation) and Dr Priyanka Tibarewal (Research Associate at the UCL Cancer Institute) on the work of the PTEN Research Foundation and on-going research being carried out in Edinburgh and UCL to identify correlations between types of PTEN mutation and the outcome of the condition, which will hopefully help with drug therapies to prevent cancerous mutations and alleviate Autism Spectrum Disorders. A big thank you to Professor Nick Leslie (Heriot-Watt University) and Professor Bart Vanhaesebroeck (UCL Cancer Institute) for all their work and support in this vital research!
Priyanka Tibarewal and two of her fellow researchers provided some amazing games and learning exercises for the kids in helping them understand about DNA and genes. One of the games they had for the kids was to educate them about their immune system and tell them how they fight germs. As a part of this, they got the kids to place their hands on some plates containing a solid gel and then grew the germs to a point they could see them. Thanks to all of you for the effort you put in, the kids really loved it!
A copy of Priyanka’s presentation can be found here: PHTS Research – PTEN Patient Day 2017
For more information on the PTEN Research Foundation, please visit: www.ptenresearch.org
Next we heard from Dr Mahesh Umapathysivam (University of Oxford) about research being conducted at the Radcliffe Department of Medicine, looking at energy balance and weight gain in PTEN patients. They would be delighted to hear from anyone aged 18-35 who would like to take part in this research. Please contact Rachel Franklin for further details.
Dr Alice Wellman (Research Fellow and Clinical Psychologist from the University of Birmingham) gave an excellent presentation on a study being run at the Cerebra Centre for Neurodevelopmental Disorders, looking into psychological and behavioural characteristics associated with PTEN alterations. Their goal is to further the understanding and effective treatment of cognitive, emotional and behavioural difficulties for children and adults with genetic conditions associated with intellectual disability. If you’d like to get involved in the trial please contact Alice Wellman on a.welham@bham.ac.uk or 0121 414 9775.
A copy of Alice’s presentation can be found here: Psychological and behavioural characteristics with PTEN alterations
For more information on Cerebra, please visit: http://www.cerebra.org.uk and http://www.findresources.co.uk/
Cerebra Centre Video: https://www.youtube.com/watch?v=cK16tSB113E
Katherine Lachlan and Ian Stock led a discussion on Patient Registries and the potential benefits for enabling research, improving clinical decision making and determining future prognosis for patients. The many considerations for setting up and maintaining a long-term registry were discussed and fundraising to pay for one was suggested. Consultation with other parties is a key focus for the charity in 2018 to understand how best to go about it.
Last but definitely not least, Collette Knight and Derek Small shared their personal and powerful patient stories with everyone, telling us about the journeys they have been through, the challenges they have had to face, both exhibiting great strength, positivity and resolve throughout. Inspiration for us all. Thank you.
We will be publishing Collette’s and Derek’s stories on the website in the weeks to come so please look out for them.
The day ended with many new friendships formed and pledges made to keep in touch. A huge vote of thanks was given to Ian, Ellie and Kelly for all their hard work in organizing an amazing day, and requests for another patient day the following year.
Thank you also to Adrian Stock for taking all the photos on the day after just having come back the day before from several weeks in Bhutan. If you’d like to get copies of any of the photos from the day please contact Ian Stock on ptenuki@gmail.com, or request to join the PTENUKI Private Facebook Group.
– Jenni Collins and Ian Stock
