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:

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

PROS Information Slides from video above

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.

VIJOICE is the first and only treatment for children and adults with PROS conditions

PIK3CA-Related Overgrowth Spectrum – An Overview – Dr Sanjay & Dr Garg

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.

This November we are hosting a family weekend:

See below for details on what to expect & who is going to presenting at the event. We must give a huge thanks to all the doctors & medical professionals that are giving up their time to share their experience, thoughts & research on PROS. A huge thank you to Professor Semple who is offering one to one consultations for some of our attendees.

So what will the presentations be at the family weekend?

We are hoping to video record some of the presentations, if we are successful these will appear on our You Tube channel after the family weekend, please check back here at a later date for details.

RARE DISEASE COLLABORATIVE NETWORKS

Rare disease collaborative networks (RDCNs) are an important part of the NHS architecture initiated by NHS England and NHS Improvement to improve care and support for patients with rare diseases.

Operating principles

RDCNs are expected to operate under the following principles:

RDCNs are made up of groups of providers (Rare disease collaborative centres (RDCCs)) who have an interest in developing understanding of a particular rare disease and are committed to working together to progress research, increase knowledge and improve patient experience
RDCNs should include providers that are research-active in a particular rare/very rare disease
They are based on the principle that, when it is practical, ‘the knowledge moves rather than the patient’
They must be focused on rare/very rare diseases where expertise is likely to be scarce and where there may also be benefits in national and international collaboration
RDCNs should describe and demonstrate a positive impact on patient experience and provide good geographical coverage
RDCNs provide one of a number of tools for NHS England and NHS Improvement to take forward its rare disease agenda

Rare Disease Collaborative Network for Mosaic Disorders (RDCN-MD)

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

ADULT CLINIC INFORMATION: ADULT CLINIC

FOR ADULT CLINIC APPOINTMENTS: ADULT CLINIC APPOINTMENT DETAILS

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.

RARE DISEASE COLLABORATIVE NETWORK FOR Segmental Overgrowth and Vascular Malformations

Segmental overgrowth and vascular malformations are group of rare disorders characterised by asymmetric overgrowth of tissues.

There are currently 6 centres focusing on segmental overgrowth and vascular malformations, please see the list below:

Lead: Nottingham University Hospitals NHS Trust

United Hospitals of Derby and Burton NHS Foundation Trust,

St George’s University Hospital NHS Foundation Trust

Birmingham Women’s and Children’s NHS Foundation Trust

Manchester University NHS Foundation Trust

Royal Free London NHS Foundation Trust.

We are waiting on contact & referral details for each of these hospitals, so please check back soon for more information.

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:

CamRARE’s RAREsummit23 is the infrastructure that unites patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases. By sharing knowledge and experience, the journey towards better diagnosis, treatment and support for patients and their families is smoother and more certain. On 12th October 2023, CamRARE will hold their 6th RAREsummit – a flagship CamRARE event gathering over 300 great minds in rare diseases to make connections, exchange ideas and openly debate possibilities.

What if we were able to share information with the power to revolutionise the current rare disease landscape? What if we could provide solutions to patients now, answering their pressing questions about their disease, care, and treatment? What if we could ensure that patients and advocates played an equal and vital role in the development of drugs, assistive technologies, healthcare and policy? Rare disease patients and their families are tired of waiting for answers and the slow pace of change. They want to be involved and share their lived experiences to help companies, researchers, healthcare professionals and policy-makers find answers and solutions. Hear from, learn from and engage in cross-sector activities with a range of stakeholders: patients; patient advocacy groups; researchers; health care professionals, tech and pharma companies who are leading the way in pioneering partnerships to accelerate change. Click here for more information: RAREsummit23

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