The PTENUKI patient group aims 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. This includes PTEN Hamartoma Tumour Syndrome (PHTS), Cowden’s Syndrome (CS) and Bannayan-Riley-Ruvalcaba Syndrome (BRRS).
There is a wide range of symptoms associated with the condition which can vary considerably in severity. When recognised in children it can account for issues such as a big head (macrocephaly) , global developmental delay and autism. There is an increased risk of certain types of cancer in adults. People with the condition may have other problems affecting their skin including unusual pigmentation and wart-like lesions. Some people have fatty lumps called lipomas or overgrowth of blood vessels (arterio-venous malformations).
The PTEN gene mutation affects people in a variety of ways. Meet Austin Kearley for example. He is a 6 year boy with the PTEN gene mutation (BRRS). Austin was born with a large head and has low muscle, so can not walk far and tires easily when out and about. He can not run and is just learning to jump. Austin can not speak and uses his iPad to communicate his needs. Austin has global developmental delay, so although he is 6 years old he is mentally about 3 years old. Austin also suffers from Autism. Each milestone reached is a huge step for Austin, like learning to clap his hands, point or run - most day to day skills that we take for granted.
There is no current treatment or cure for the condition. We aim to offer support to those affected by PTEN through:
- increased awareness
- more accurate and accessible information
- earlier diagnosis and intervention
- greater research into treatment and prevention
- improved coordination of care
We want to say a HUGE thank you to you all for your interest in our cause. All of the money raised will go towards helping those affect by the PTEN gene mutation.
Charity No: 1172205
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