October 23rd marks international PTEN Hamartoma Tumor Syndrome (PHTS) Awareness Day. PHTS is a rare genetic condition affecting 1 in 200,000 people, corresponding to approximately 47,000 people worldwide and 300 within in the UK.1,2 At present, there are no treatments or cures available for PHTS.
Source: https://erc.bioscientifica.com/view/journals/erc/25/8/ERC-18-0162.xml
What is PHTS?
PHTS is caused by germline, heterozygous genetic mutations in a gene known as PTEN (Phosphate and Tensin Homologue), which plays a critical role in tumour suppression. Mutations within this gene, such as those that occur within PHTS, can result in a loss of PTEN function and associated cellular regulation. As a result, PHTS patients experience an unavoidable 85-89% lifetime risk for cancer development.2,3 In the accompanying diagram, you can see the contrast between the risk of various malignancies in the general population and the average risk of a PHTS patient developing these.4
Source: Image sent from Kelly Klearly
Austin and Kelly’s Story
Austin was diagnosed with PHTS at the age of 2. Now as a 12-year-old living with this rare condition, Austin experiences severe learning difficulties. PHTS also causes low muscle tone, so Austin is unable to run and jump, and often uses a wheelchair for longer days out. His condition means that whilst children his age are out running, playing and making friends in school, Austin has to undergo intensive therapy to learn and accomplish skills that most of us take for granted. From the age of 10, Austin also started to have annual cancer screenings with the aim to detect any malignant growth at the earliest and most treatable stage possible.
After Austin’s diagnosis, his parents were invited to the first ever PHTS patient meet up in September 2015. Since then, Austin’s Mum, Kelly Kearley, has gone on to run the PTEN UK and Ireland Patient Group (PTEN UKI), along with 7 other trustees. PTEN UKI aims to improve the lives of patients, parents and carers who are affected by PTEN genetic alterations through improving patient support, increasing disease awareness, promoting earlier diagnosis and intervention, supporting research into treatments, and improving coordination of care.
Rare Disease, Mental Health and Coordinating Care
Living with a rare disease can be psychologically and emotionally demanding. Not only to patients, but also their families. Families face uncertainty surrounding prognosis and treatment pathways, a lack of disease awareness amongst healthcare professionals, fears about the future and impact of genetic inheritance, as well as the daily realities of symptoms and frequent medical appointments. This can understandably lead to low mood, and more serious conditions such as anxiety and depression amongst patients and their loved ones.5
In March 2023, PTEN UKI secured a National Lottery Community Fund grant. This was used to establish a dedicated team of trained counsellors through the help of Rareminds, with the sole aim of helping PTEN patients on their rare disease journey. This PTEN Counselling service has been well received by patients and their families and work is ongoing to secure funding to ensure this service can continue. Fundraising work is so important to the rare disease and PHTS community, if you’re interested in getting involved in fundraising for PTEN UKI, click here. For example, earlier this year I ran the London Landmarks Half Marathon, raising money for PTEN UKI. The funds raised were utilised in the establishment of the counselling service with Rareminds and it has been incredibly rewarding to see how this has helped the PHTS community.
The next goal for PTEN UKI is to set up a coordinated care clinic for PTEN patients. This would involve a central medical service where those affected by PHTS can visit for all their annual cancer screenings and health check-ups. PHTS patients spend a lot of time in various clinics, meeting different doctors and attending multiple annual screenings. A coordinated care clinic, where patients can receive all necessary care in one place, would be invaluable and significantly reduce some of the mental strain and stress that comes with a rare disease diagnosis. To hear more about what this would mean to PHTS patients, click here.
Conclusion
A PHTS diagnosis can be overwhelming and scary for both patients and their families. As a rare disease, there are often very few resources available and, given the limited number of patients, research into such diseases is often scarce and underfunded. However, previous and ongoing work by PTEN UKI has undoubtedly benefited those living with PHTS; not only through providing a supportive community for patients and their families, but also by actively establishing vital counselling services and pushing to improve patient care. This is a clear example of the value patient organisations can hold within the rare disease space, continuously advocating for patients and driving change to improve lives.
For further information on current PHTS research, please visit the PTEN Research Foundation.6 If you would like to learn more about PHTS and the role of patient-advocacy groups or hear first-hand patient stories, please see the PTEN UK and Ireland Patient Group.
Source: https://ptenuki.org/
Here at TVF, we have a wealth of expertise in rare diseases and are passionate about staying up to date with the latest developments in healthcare. From this, we understand the immense value that patient organisations can have in driving these advances. We appreciate the importance of medical communications in the rare disease field and have extensive experience developing clear, targeted disease-awareness campaigns alongside the branding and marketing of novel potential therapeutics. If you would like to find out more about how we can support you, get in touch today!
By Hannah Roughley
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