To celebrate PTEN Hamartoma Tumour Syndrome Day, Kelly Kearley, Charity manager for Geneitc Alliance UK’s member, PTENUKI shares more about PTEN Hamartoma Tumour Syndrome and why she set up a charity to support other families affected by the condition
The 23 October 2023 marks international PTEN Hamartoma Tumour Syndrome Day. Known as PHTS, this rare condition is believed to affect 1 in 200,000 people or approximately 350 people in the UK. PTEN is a tumour suppressor gene. When someone is born with a PTEN gene mutation they have a higher lifetime risk of developing breast, thyroid, kidney, colon, endometrial cancer and melanoma. Some people with the condition are also affected with neurodevelopmental disorders, autism and macrocephaly (a large head). Currently there are no treatments or cures for PHTS.
Story from the community
Meet Austin, a 12-year-old boy from the West Midlands. Austin was diagnosed with PHTS at the age of two. This rare condition means that Austin has severe learning difficulties with an IQ of about 50, meaning that he is mentally about five years old. He is unable to speak and uses an app on his iPad called Proloquo2go to communicate. This rare genetic disorder causes low muscle tone, so he is unable to run and jump and tires easily when out and about, often using a wheelchair for days out.
His condition means that while other children of his age are running about, playing, making friends and going to school, Austin is having intense therapy in order to learn and accomplish self-help skills on a daily basis; abilities that most of us take for granted. From the age of 10, Austin also started having annual cancer screenings. Austin constantly needs one-to-one support to access the community and function throughout the day. Every tiny step is a massive breakthrough for Austin. Despite his challenges, Austin is a very happy child. He has a new passion for horse riding and has always loved activities such as rollercoasters, swimming and his trampoline. He enjoys family days out to the beach, relaxation time on his iPad and loves a chocolate biscuit!
Setting up PTENUKI
After Austin was diagnosed, Austin’s parents were invited to the first ever PHTS patient meet up in Winchester in September 2015. Throughout 2016 a number of additional meetings and conversations led to the coming together of several patients, family members and professionals, and to the registering of the patient group as a UK based charity (Registered Charity: 1172205) on 22 March 2017.
Austin’s mum, Kelly Kearley, now runs PTEN UKI along with seven other trustees. The patient group’s purpose is to improve the lives of patients, parents and carers of all ages, in the United Kingdom and Ireland, who are affected by PTEN genetic alterations. They do this through better patient support, increased awareness, more accurate and accessible information, earlier diagnosis and intervention, greater research into treatment and prevention, and improved coordination of care. The patient group works closely with the PTEN Research Foundation and Cambridge University and were thrilled to help launch and promote the first ever PTEN Registry established in 2019.
The importance of good mental health
One of the main roles of the patient group is to provide support to the PTEN patients and their families. Every year they hold a face-to-face patient day, where families can come together, share their journey and learn from each other. These days are vital and are often a lifeline for the families. One topic that was discussed at the 2022 patient day was the critical need for mental health support. The patient group took these concerns onboard and worked tirelessly to secure funding to put some much-needed mental health support in place for their community.
In March 2023, they secured a National Lottery Community Fund grant to put in place a dedicated team of trained counsellors with Rareminds to help PTEN patients on their rare journey. This PTEN Counselling service has been greatly received and the patient group are working on securing more funding so this service can continue.
Although the patient group has come a long way since it’s launch in 2017, the charity has a lot more it wants to achieve. The main goal it is working towards is the set up a coordinated care clinic for PTEN patients; a centre where those affected by PHTS can come for all their annual cancer screenings and health check-ups. Most PHTS families spend a lot of time in and out of clinics, meeting different doctors and having multiple cancer screenings annually. It is the dream of the patient group to set up a coordinated care clinic where patients could receive everything in one place. Not only would this be life changing for the community, it would save the NHS a lot of time and money – a win win! This dream is also in line with Genetic Alliance UK’s ‘Coordinating Care: Learning from the experiences of people living with rare conditions’ report that was launched on Rare Disease Day 2023. To find out more about what this would mean to PTEN patients, click here.
PTENUKI aim to raise awareness of this rare genetic disorder on international PTEN day and would like to thank Genetic Alliance for the platform in order to share our story. Kelly and the team at PTEN UKI would like to reach out to anyone affected by PHTS. The charity is a growing, supportive community so please do get in touch. Thank you for reading.
By Kelly Kearley, Charity manager for PTENUKI, October 2023.