We are delighted to announce our new Chair of trustees, Jack Donnelly. Jack is from Coventry and approached the charity at the beginning of 2023 after his daughter Amara was diagnosed with the PTEN gene mutation at the age of 2. Jack felt strongly that after learning of Amara’s diagnosis it became apparent that there was a lack of […]
Author Archives: Ellie Challis
02
Mar
Mar
PTEN UK and Ireland patient group have joined forces with a range of PTEN specialists to bring you a collection of webinars to inform you on your PTEN journey. There will be a different specialist each month. This month we will be speaking with Paul Elvin (PTEN Research) and Priyanka Tibarewal (UCL and PTEN-UKI), about […]
29
Jan
Jan
PTEN UK and Ireland patient group have joined forces with a range of PTEN specialists to bring you a collection of webinars to inform you on your PTEN journey. There will be a different specialist each month. This month we are speaking to Professor Marc Tischkowitz and Dr Katherine Lachlan who helped set up the […]
19
Jan
Jan
We hope you had a wonderful festive break! The new year is now in full swing so we wanted to start the year by announcing our hopes and dreams for 2023! We took everything on board that was discussed at our last patient day and have a vision for 2023 to help our community even further. […]
06
Jan
Jan
Changing the Narrative in Person-Centred Health and Social Care I wear many, many hats in my day to day life. I work full time as well as writing, advocating, raising awareness for rare genetic conditions, with a side of inclusion activism thrown in for good measure. I’m also a bit of a social media addict. […]
20
Dec
Dec
It is said over 3.5million people in the UK have over 7,000 rare diseases, 85% do not have a treatment for their condition. The Cambridge Rare Disease Network works to build a community to address the unmet needs of these people living with rare conditions. This month saw their Annual Rare Fest, which is a […]
21
Sep
Sep
If I think back to my diagnosis 5 years ago when I was told I have a significant risk of breast, thyroid, uterus, kidney and skin cancer, to now when I live a ‘normal’, happy, fulfilled life where I embrace my Cowden’s diagnosis with a positive, lucky outlook, it makes me realise life really can […]
16
Aug
Aug
Sarah shares her experience When and how did you first get diagnosed? I was first diagnosed because of my niece. When she was born, they noticed she had a big head so they did some tests, which led to my sister being told that she had cowden syndrome. Both my sister and her boyfriend were tested […]
24
May
May
Ross is in his 20’s and shares his experience. When and how did you first get diagnosed? Signs where there when I was in Primary School at the age of about 6 or 7, and they found 2 lumps and unusual symptoms. This was around 15 years ago and I was young at the time, but from […]
29
Apr
Apr
Derek is in his 50’s and shares his experience 1. When and how did you get diagnosed? In late summer 2006 I saw an ENT Consultant at my local hospital (Queen Alexandra in Cosham) over Ménière’s attacks. He sent me for an MRI scan and from the results I was admitted to Southampton General on […]