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.
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.
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.
The NHS England Rare Disease Collaborative Network for Mosaic Disorders (RDCN-MD) is led by GOSH Paediatric Dermatology and has an adult centre at St Thomas’ hospital, London. Other than the two specialist centres we have established a national network of named consultant contacts.
For HCP’s interested in becoming part of the RDCN-MD as a named consultant contact for the joint care of patients with mosaic disorders please send an email to: MosaicDisordersRDCN@gosh.nhs.uk with the subject heading “Local Consultant Contact Request”. The idea of the local consultant contact network is to foster national expertise to improve patient care and to improve coordination and communication between local and specialist centres. For more information please see: Rare Disease Collaborative Network
Referral criteria to RDCN-MDs Mandatory primary RDCN-MDs referral criterion
email: gsttr.dermatologyrefferalsgenetics@nhs.net
Every patient referred into the RDCN service must have a clinician in charge of coordinating their care in their local hospital. This is to optimise coordination of patient care and communication between the RDCN and the local team, and to reduce the requirement for patient travel. This clinician must either be the referring clinician or be named in the referral letter if coming from a GP. Referral to the local clinician at the time of GP referral and naming of that clinician in the referral letter is sufficient at that stage, so that referral is not delayed by waiting for local appointments. This named clinician will be expected to remain involved in patient care throughout their care under the RDCN.
For children the named clinician would be expected to be in Dermatology or Paediatrics and for adults in Dermatology. However, for patients requiring systemic targeted therapies for their mosaic disorders (for example Sirolimus), an oncology professional may be the most appropriate even though these drugs are being used for mosaic disorders and not malignancy.
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 anyone who would like to apply for a grant, please fill out our application form here:
GOPI3KS APPLICATION FORM
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,
or who have family/friends with the condition.
Below is the newsletter from December 2022
GoPI3Ks Newsletter December 2022
Below is the newsletter from December 2021
GoPI3Ks Newsletter December 2021
Below is the newsletter from December 2020
GoPI3Ks Newsletter December 2020
Below is the newsletter from December 2019
GoPI3Ks newsletter December 2019
Below is the newsletter from December 2018
GoPI3Ks newsletter December 2018