Genetic Overgrowth PI3K Support – Supporting patients & families living with PIK Related Overgrowth Spectrum (PROS)

Welcome to GoPI3Ks

We are a registered charity 1176289 based in the UK for patients and the families & friends of patients with a Segmental overgrowth in the PIK gene, known as PROS: (PIK3CA Related Overgrowth Spectrum).

PROS is an umbrella term used for a number of conditions, please click on our “learn more” button for more information on Segmental Overgrowth Syndromes.

Receiving a diagnosis of PROS

We know that when you first receive a diagnosis it can leave you with a mixture of emotions & thoughts. Some of these can be positive (for me I was that excited to finally receive my diagnosis that I got my own PIK3CA tattoo) However, it can also leave you with many more questions than answers.

We have created a PDF slide document which shows you some basic facts about PROS:

WHAT IS PROS

Video from NORD / RARE EDU / Osmosis.org explaining what PROS is: WHAT IS PROS

We understand that many PROS patients will also see other doctors who have very little knowledge of PROS.

This website created by Novartis gives a great breakdown of what PROS is. It also has a great downloadable fact sheet in the resources section to help others understand a little more about PROS.

WHAT IS PROS for doctors

WHAT IS PROS for patients

WHAT IS PIK3CA RELATED OVERGROWTH SPECTRUM (PROS) FROM NORD

EXPLAINING PROS TO CHILDREN.

We understand how difficult it can be to explain PROS to a child living with this condition but also siblings, school friends & children in general.

Here are links to some informative websites aimed at children of different ages & different settings, such as home, school & doctors. As well as a great comic book & workbook.

Understanding PROS

School kit – Explaining living with a rare disease to young children

Please see our resources section for links to various articles that may help such as but not limited to:

What is PROS?
How will my child cope living with a rare condition?
How will I as a parent manage?
How can I help my other children/siblings?
I need specialist clothing/shoes, where can I go for these?
I feel I am the only one, are there support groups out there?

Our lovely friends at WonderFIL smiles have created a leaflet about PROS especially for children to help them hopefully understand a little more about this condition. Please see their website:

PROS leaflet for children

A big thank you to Linda Roksund for allowing us to upload their video & leaflet.

This little section is dedicated to Ralitsa Madsen who through her extensive scientific research in to PIK3CA & PROS has made a huge difference & impact within the PROS community.

We are very fortunate to have someone with so much movtivation & openness to continue the search for answers. Not just for the PROS community but for cancer research too.

Here is a link to Ralitsa’s blog covering various aspects of her PIK3CA research: Ralitsa Madsen’s Blog

Here is a link to her latest presentation at the CLOVES awareness day August 2021: CLOVES awareness day presentation

WHO ARE WE? Meet your GoPI3Ks team.

Financial Assistance

Our team at GoPI3Ks understand that living with a rare overgrowth condition can & does lead to extra financial costs.

Our aim is to offer financial grants to those who have been diagnosed with PROS, this has included, but not limited to:

Funding mobility equipment, such as electric wheelchairs.
Funding specialised footwear & clothing.
Help with medical costs.
Funding family weekend expenses (accommodation & travel*)

For more information & an application form please email us at: gopi3ks@yahoo.com

Did you know that 3.5 million people in the UK are living with rare conditions?

That’s around about the population of Wales. Hang on, didn’t we say RARE?!

Well, with over 10,000 different rare conditions, what may be individually rare becomes collectively common. In fact,1 in 17 of us may be affected in our lifetime so it’s something we should all be curious about.

With this in mind, CamRARE is making it their priority to push rare diseases into the spotlight. We are proud to be media partners for this important event in the rare disease calendar.

We are proud to be media partners for this vibrant and vital event thatputs those affected by #RareDiseases

RAREfest22 is a rare disease-inspired, unique festival that will spark curiosity, challenge perceptions, and showcase science and innovative tech while giving a voice to those living with rare conditions and their families.

Taking place on November 26th, this FREE event for the experts and the curious of all ages promises a feast of expert speakers, immersive exhibits, films and art A great opportunity to mix and mingle with the rare disease community, scientists, medical professionals, comanies developing tech and treatments.

Are you a person or family affected or perhaps you have a neighbour or friend who is? Maybe you’re curious about the world and love to share that with your kids? Are you a researcher based in a lab, a healthcare worker in a busy hospital, a teacher with a class full of inquisitive kids, or a student embarking on their next adventure? Whomever you are we guarantee this will be a fascinating day out and you’ll learn something new that will blow your mind.

So come along, bring your friends and family and make a day of it! For the experts. For the curious. For all ages. For the whole family. For everyone. For FREE.

Please check out the CRDN website: CRDN Free tickets available here: RAREfest22 Tickets

GOPI3Ks and AllStripes Partner for New PROS Research

GoPI3Ks and AllStripes are partnering to create a database that will enable new PIK3CA-related overgrowth spectrum (PROS) research projects!

We’re looking for patients/families willing to contribute their de-identified medical records to make this effort as strong as possible.

AllStripes is a platform that makes it easy for rare disease patients and caregivers to contribute to treatment research from home. Participate by signing up at allstripes.com/pros and the AllStripes team will collect the records on your behalf, at no cost, and extract insights to power research. The more we know about PROS, the more we can do for PROS patients.

Helpful resources:

We understand that being diagnosed with & living with a rare medical condition can bring it’s own set of issues. Whether this be the extra financial burden, the psychological & mental health affect plus the feeling of being the only one out there & where to go if you need specialised footwear or clothing.

Please click on the Resource button for more information:

In October 2021 we took part in the RAREsummit21 event organised by the CRDN – Cambridge Rare Disease Network.

GoPI3Ks worked with Prime Global to create a PATIENT VOICE PUBLICATION poster to highlight just what PROS is; managing the symptoms, the burden of therapy & life lost. Trial participation as well as hopes & aspirations.

To read the poster you can either right click on the image to the right & open in the new window & zoom in. Alternatively if you click this link to open a new window to see the poster: Patient Voice Publication for PROS PIK3CA Related Overgrowth Spectrum

GoPI3Ks has social media pages on both Twitter & Facebook where you can connect with others either living with PROS,