Summary of the day
For the first time since 2019, over 100 people in the PTENUKI community joined together in person for a day of learning, sharing experiences and building relationships as part of PTENUKI Patient Day 2022. The day was held in the Oxfordshire countryside and hosted by the HealthScience communications consultancy Oxford PharmaGenesis. PTENUKI Patient Day 2022 brought together people with PTEN hamartoma tumour syndrome (also called PTEN or PHTS) and their families, healthcare professionals specialising in PTEN and researchers advancing the field of PTEN care. From start to finish, the atmosphere at the event was buzzing with new ideas and hopes for the future.
Since the last in-person Patient Day, there has been great progress in both the PTENUKI charity and in PTEN research. There have been exciting developments in PTENUKI in the recruitment of their first employee, Kelly Kearly, and the charity is actively looking for new board members and a chairperson. Throughout the COVID-19 pandemic, PTENUKI has supported families with PTEN through kindness grants and ideas for new, specialist PTEN clinics have been generated. The PTEN clinics are an important part of the charity’s 5-year plan, and fundraising is vital in putting these into action. Throughout the day, PTENUKI emphasized that they wanted to hear the experiences of people with PTEN and their families, to inform future decision-making and continue to build a united community to improve PTEN care.
In PTEN research, there have been many new developments. Talks sharing these findings were given by specialist PTEN healthcare professionals and researchers. Topics such as improving our understanding of rare conditions like PTEN through a genetic registry, autism in PTEN, gut and immune health in PTEN, and improvements in genetic counselling were covered. Breakout rooms provided space for reflective discussions between people with PTEN and healthcare professionals, sharing knowledge of the lived experience of PTEN and how this could translate into future improvements in clinical care.
Alongside the informative sessions, this day provided a great environment for people with PTEN and their families to reconnect, make new connections and share their experiences. Through the united strength, support and insights of the PTEN community, there is hope that the goals for improvements in PTEN care can be met.
Welcome and PTEN UK & Ireland (PTENUKI) update
The day started with a warm welcome from Chris Winchester of Oxford PharmaGenesis, the HealthScience communications consultancy that hosted the event. Chris encouraged the guests to make the most of PTENUKI Patient Day 2022 by learning from and building connections with each other, as collaboration is key to transforming the lives of people with rare conditions such as PTEN. He finished his welcome with empowering words: “Never doubt your power to change the world”.
Next, the PTENUKI Manager Kelly Kearly gave a brief update on how PTENUKI has been helping the PTEN community over the past few years. Since the last meet-up in 2019, the charity has given 15 COVID-19 kindness grants to adults and children with PTEN to help with their education, equipment, essential items, mental health and well-being. These grants provided day trips, iPads, tricycles, beds and a laptop, for example.
The PTENUKI charity has recently also had some exciting new developments. In October 2021, Kelly became the first PTENUKI employee. Going forward, the charity wants to recruit more board members as well as a chairperson to help drive the changes that will improve the lives of people with PTEN. For example, in the next 5 years PTENUKI would like to set up a national clinic for people with PTEN, where they could see all their doctors and specialists in one place. This ‘one-stop’ PTEN clinic would be funded and run by the NHS in the future, but PTENUKI first needs to run a trial clinic to show that it can address the needs of the PTEN community.
“How can we help our community?” (Kelly Kearley)
How can you help?
If you would like to help PTENUKI set up a ‘one-stop’ clinic where people could see all their PTEN doctors and specialists, please get in touch here: [contact information].
PTENUKI would like to know what you need from a ‘one-stop’ clinic. Anything you can tell them will help them design the best clinic possible. For example, you can let them know:
- what specialists you would like to see at the clinic
- what your main aims of visiting a clinic are
- over how many days you would like to have your visits with specialists at the clinic.
You can also help raise money for PTENUKI to help them fund the trial clinic. Here are some examples of how you can help with fundraising:
- set up a fundraising page
- shop online through Amazon Smile, which enables PTENUKI to receive 5% of what you spend at no extra cost to you
- invite corporate donations
- take part in the London Landmarks Half Marathon on 2 April 2023. PTENUKI has reserved five spaces and the successful runners will aim to raise £1000.
For other fundraising ideas, visit the PTENUKI fundraising page: [link to website].
Information about the PTEN Registry
Marc Tischkowitz, Professor of Medical Genetics and Honorary Consultant in the Department of Medical Genetics at University of Cambridge, gave us an update on the PTEN registry and its importance.
Why do we need a PTEN registry?
The aim of the PTEN registry is to create a single place where all medical information for people with PTEN can be stored. The information in the PTEN registry will be anonymous, meaning that doctors will not know who the information relates to. However, the registry will allow doctors to share anonymous information with each other to help them to learn more about PTEN. This is important because PTEN is a rare condition, so some doctors may not know much about it. By sharing medical information from many people with PTEN, the registry would help doctors to:
- learn how many people in the UK have PTEN. This is important for the NHS which needs to plan how best to support people with PTEN
- learn more about how PTEN works
- learn more about how PTEN can be treated or managed
- make guidelines for how PTEN can best be managed. This can help improve the outcomes of people with PTEN.
If you would like to join the PTEN registry, follow the instructions here.
PTEN Research update
Thomas Pepper is Chief Executive of the charity PTEN Research. In this talk, he gave an update on the research projects PTEN Research has been supporting.
What is PTEN Research and what does it do?
PTEN Research is a UK-registered charity that funds and supports medical research to find new and better treatments for PTEN. It was founded in 2017 and currently supports 19 research projects on PTEN across the world. The findings of the research projects will be published in academic journals so that the whole PTEN community can learn about them. Some of the current projects include:
- creating a PTEN registry in the UK
- clinical trials of drugs to improve neurocognition in PHTS. Neurocognition describes how the brain works
- clinical trials of drugs to improve how the bowel works in PHTS
- creating tools to measure how well treatments work in people with PHTS and autism.
Watch this video to learn more about these projects and how collaboration between patients, researchers, healthcare authorities and pharma companies is important for finding PTEN treatments.
Findings from the University of Leicester’s research into behavioural, developmental and psychological characteristics in children with PTEN
Katherine Cummings, a trainee clinical psychologist, and her supervisor Dr Alice Welham, a clinical lecturer at the University of Leicester, shared their research into the behaviour, development and psychological traits of children with PTEN. In their study, they looked at the strengths and weaknesses of children with PTEN, covering mood, behaviour and sensory experiences. They also looked at the well-being of parents or caregivers of children with PTEN.
They asked the parents of 20 children with PTEN to complete questionnaires about their children’s experiences. The children were between 3 and 15 years old. The researchers then studied the responses of all parents to understand what strengths and weakness the children with PTEN had.
Overall, they found that 60% of children with PTEN had a diagnosis of a learning disability or a developmental delay. The children had a broad range of communication skills and social skills, however they were particularly good at daily skills such as using technology and looking after themselves.
There were 8 children who had a diagnosis of autism spectrum condition, also called ASC. Overall, 80% of children had some difficulties in learning and development, or in their social skills linked to ASC. Interestingly, these children had fewer difficulties with social interactions than children with ASC who do not have PTEN.
The researchers also studied how many children with PTEN have anxiety or display challenging behaviours, as well as the well-being of parents of children with PTEN. You can learn more about these findings by watching the video of this talk.
Genetic counselling – Why does the talking matter?
Eleanor Welsh, a first-year postgraduate genetic counselling student at Cardiff University, is training to become a genetic counsellor specialising in PTEN. Eleanor described genetic counselling as “giving someone a worry and then working with them to take that worry away”. Currently, this aim isn’t always met for people with rare genetic conditions like PTEN, as described in Eleanor’s talk. Eleanor discussed how developing a person-centred approach could improve the genetic counselling experience for people with PTEN. In a person-centred approach, the genetic counsellor allows the client to be the expert on their rare condition and then widens their own knowledge on it to improve their clinical care. Eleanor highlighted the importance of creating a safe, empowering and empathetic space for discussion, with equality between the counsellor and client. Person-centred counselling hopes to help the client fit their diagnosis into their life, taking into account their life experiences and situation. Eleanor is soon to be undertaking research into genetic counselling for PTEN, learning about people’s experiences and emotional needs at diagnosis, in the hope to improve current genetic counselling care for PTEN.
Autism and PTEN
Professor Thomas Frazier, of John Carroll University in Ohio, USA, joined the day virtually to share his research on autism and PTEN. Current tools that help researchers and healthcare professionals understand a person’s autism are not suitable for autistic people with PTEN. This is because autism in people with PTEN can sometimes be a little different than autism in people without PTEN. Dr Frazier’s research aims to adapt the tools that help us to understand autism to be more specific for people with PTEN. If we can have a better understanding of how autism affects people with PTEN, this could help to improve care in the future.
Dr Frazier’s research aims to improve these tools using two different methods. He is developing a survey with and for autistic people with PTEN and their caregivers. During this project, Dr Frazier is finding out which aspects of autism are the most relevant for autistic people with PTEN and how surveys can be improved The results of this suggested that the aspects of autism that were most important to autistic people with PTEN were repetitive behaviour, anxiety, speech/language and quality of life. Dr Frazier is also developing a computer eye-tracking tool to gain a better understanding of autism in PTEN. This measures eye movements on a computer screen to learn about social attention, responding to questions, thinking speed and reading single words. This tool is also suitable for non-verbal autistic people. Dr Frazier plans to collect information about gaze and facial expressions in a series of videos less than 1 minute long. Currently, the study for this tool is being approved for trial in the UK and there may be an opportunity for autistic people with PTEN to join in the future.
Watch this video to learn more about these projects and how Dr Frazier is developing new ways to gain a better understanding of autism in PTEN.
Risks and current recommendations for bowel care in PTEN
Dr Andrew Latchford, Consultant Gastroenterologist at St Mark’s Hospital in Harrow, joined us via a video to tell us key things about endoscopy and PTEN hamartoma tumour syndrome, also called PHTS or PTEN.
What is PTEN?
PTEN (or PHTS) describes several disorders caused by changes in the PTEN gene. A change in a gene is also called a mutation. People with PTEN have many tissue growths in different parts of the body that look like tumours. These growths are called hamartomas and are not cancerous. Doctors may use endoscopy to check the health of the body and any tissue growths. Endoscopy is a medical procedure that uses a tube with a camera to look inside the body.
People with PTEN often have tissue growths in their bowel called bowel polyps. Most bowel polyps are not cancerous, but some may develop into cancer if they are not treated.
What is the risk of bowel cancer in people with PTEN?
Because PHTS is a rare condition, it is difficult to know the exact risk of bowel cancer in people with PHTS. Researchers estimate that the overall risk of a person with PHTS getting bowel cancer at some point in their life is 10% compared with 6% for the general population.
Recommendations for colonoscopy
It is important that doctors find polyps that could develop into cancer as early as possible to have the best chance of treating them. Doctors use a type of endoscopy called colonoscopy to find the bowel polyps that could develop into cancer. Then, they can treat or remove them.
It is recommended that people with PTEN have their first colonoscopy at the ages 35 to 40 years. During this colonoscopy, doctors will assess how many bowel polyps a person has. If a person has more bowel polyps than is usual, doctors will suggest how often they should have a colonoscopy. If a person has a usual number of bowel polyps, they should follow normal guidelines on how often to get colonoscopy. This will be as often as for people who do not have PTEN.
Doctors also suggest that people have a colonoscopy done by a specialist in PTEN . This is to make sure that the doctor knows enough about PTEN to interpret the results of colonoscopy correctly.
Immune problems and gastroenterological manifestations in childhood
Holm Uhlig is Professor of Paediatric Gastroenterology at University of Oxford. In this talk, he explained the role of PTEN in immune responses.
The immune system is the body’s natural defence against injuries and infections. In people with PTEN, the immune system doesn’t work as well as it should. In some people with PTEN, a type of immune cells called inflammatory cells can congregate into small build-ups called lymphoid follicles. Lymphoid follicles are common for people with PTEN, but rarely develop into tumours or lymphoma, a cancer of lymphocytes. Lymphocytes are a type of white blood cell involved in the body’s immune system.
Some people with PTEN can develop gut problems, such as inflammation of the gut, celiac disease or lymphoid hyperplasia. In people with celiac disease, the immune system attacks the body’s own tissue when people eat gluten. In people with lymphoid hyperplasia, the lymph nodes, where many lymphocytes are found, are bigger than usual because there are more cells in the lymph node than usual.
In this video, you can learn more about different type of gut problems that some people, including children with PTEN have, and how some of these problems may be treated with medicines that are currently used for other diseases.
PTEN professional Q&A panel
Dr Katherine Lachlan (clinical geneticist), Prof. Marc Tischkowitz (clinical geneticist, PTEN registry), Thomas Pepper (Chief Executive, PTEN Research), Kelly Kearley (PTEN parent, PTENUKI Trustee and Manager), Dr Angela Brady (clinical geneticist), Dr Holm Uhlig (paediatric gastroenterologist), Dr Alice Welham (clinical lecturer, Eleanor Welsh (trainee genetic counsellor), Ellie Challis (PTENUKI Trustee and PTEN patient)
Following the talks and breakout sessions, a panel of PTEN professionals gathered to discuss any questions raised by attendees This open conversation spanned several different themes.
There was further discussion of PTEN clinic ideas. The importance of community voices to inform future decisions on how these could best be run to support people with PTEN was highlighted. The potential options on how these clinics could be run and the prospect of hopefully securing an NHS funding route was also covered.
Support for children and young people with PTEN was also discussed further. This included supporting children with education about PTEN through the potential training of school staff, and the need to understand further the needs of children with PTEN, through PTEN community voices. Young people aged 16–30 with PTEN can sometimes be overlooked in terms of receiving information and community support compared with the more established support for young children and older adults with PTEN. Ideas to help tackle this included community support through the PTEN network on social media, setting up peer support and building relationships at events.
Following on from this, the importance of having an understanding of medical information in building trust between people with PTEN and doctors was highlighted. This included considerations of when medical jargon may or may not be appropriate in conversations with people with PTEN, especially considering the individual differences in knowledge about PTEN from people with this condition – some people may be experts on their condition while others are new to this field.
Consistently, the key message in all these discussions was the importance of building the PTEN community, sharing voices and providing support to each other to drive forward PTEN care and support.
You can watch our video about the day below: