Your journey with healthcare professionals
The information below we hope will be of use to you when seeing healthcare professions who have little or no knowledge of PROS (PIK3CA Related Overgrwoth Spectrum)
Please note that any of the worksheets you find on the following pages can be sent directly to you. Please email us your details at Our email address
What is PROS?
PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders caused by somatic activating mutations in the PIK3CA gene, resulting in segmental overgrowth and complex vascular, adipose, skeletal, and neurological anomalies.
When the gene is mutated, it becomes overactive and the signals continue for too long or too strongly. This leads to excessive growth, as the cells are signalled to grow more than is typical. This only occurs in some cells, which is why only certain areas of the body will experience the overgrowth.
PROS encompasses a wide array of phenotypes affecting fat, muscle, bone, nerves, blood vessels, lymphatics, and the brain. Symptoms may be present at birth or develop during childhood. PROS can express in a variety of different ways. Some frequently seen clinical features of the condition include segmental or asymmetric overgrowth to areas of the body, vascular malformations, fibroadipose tissue overgrowth, skeletal anomalies, and neurological impact (such as seizures).
PROS is also a condition that can affect how someone looks, therefore, causing a visual difference in appearance. A visual difference is described as: “a distinct, noticeable physical feature on an individual’s body—such as a scar, mark, birthmark, or condition—that deviates from typical societal norms.”
How does PROS link to healthcare professionals? – evidence from our study:
Due to the rarity of PROS and the variety of subtypes that exist, individuals with PROS can often have to explain their condition to healthcare professionals and advocate for themselves in medical settings. In our study, we found that many parents and adults felt that they had to advocate for themselves/their child and teach healthcare professionals about the condition. Below are some quotes illustrating their thoughts:
How can healthcare professionals’ help:
We asked people with PROS to share what they would like healthcare professionals to know and ask them during appointments. Some common reflections were that medical care should be holistic and consider psychological wellbeing as well as just physical impact. Here are some quotes directly from them:
A useful site for a healthcare professional is Rare Minds. It offers support, information and training about best supporting the mental wellbeing of people with rare conditions.
You can find out more by visiting the link here: Homepage – Rareminds
Another website that offers supports for children, parents and families is: Changing Faces
On the final page of this resource, you can find all the activities and materials available for use. There is a PROS factsheet here that can provide you with more information about the condition. This can also be found below:
Here is a clickable link to a PDF version of the PROS factsheet: PROS Factsheet
Support for approaching healthcare professionals:
We have produced a form that can be downloaded, printed and filled in, or you can fill it in online and then give or send to your doctor when you attend an appointment. It provides space for you to share how PROS impacts different areas of your life, allows you to highlight your most important concerns at the time, and offers space to share things with doctors that they may not understand about PROS.
Here is a PDF editable version of the above form for you to use for your next appointment: Healthcare form