Family Day 2016

Fund Raising update No Comments »

The donations and funds raised by the Thames1000 will allow us to organise a Family weekend in October 2016. Dr Les Biesecker has agreed to attend and in previous years this has been an amazing opportunity for individuals and families to benefit from his knowledge, experience and support.  Les can also provide you with an update on the drugs trial.

Please could you register your interest by emailing me at:

Fundraising Update

Fund Raising update No Comments »


We would like to thank the Friends of the PSF UK for their regular donations.

Mae Stroshane

Pickwick Lodge

Julia Kobrin

David Beere

Joseph Drake

David Ramsden

Samatha Gilmore

Debra Catt

Paul Kendall

Helen Lindsey

Debbir Elliott

Tracy Woods

Laura Richards

Mandy Sellars

Karen Thompson

Huge thanks to the Rose Charitable Foundation

The Thames 1000 event , raised over £6,000 for PSF UK, along with a similar sum for two other charities.  The fund raising effort was organised by the Rose Charitable Foundation. Shown here are some photos from the final day of the event; the fund raisers met by the Mayor & Mayoress of Southend-on-Sea and our new Patron Joseph Drake with the Mayor.

Funds raised by Scott Collins by selling PSF pin badges

Funds raised by Scott Collins by selling PSF pin badges

Andrew Myles- raising funds by participating in the Edinburgh Half Marathon

Andrew Myles- raising funds by participating in the Edinburgh Half Marathon

Patron – Joe Drake

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Joe has been a huge benefit to the PSF UK since he joined us as a patron, supporting the Thames 1000 fundraising event. He attended the event and met the participants at the finish line.


Joe also invited to his appearance as Romeo in a Rose Theatre production of the classic Shakespeare play in March this year. Amanda and I went to see the show that was powerful, exhilarating and edgy with amazing choreography and music. The Collins family also went along to watch the show and thoroughly enjoyed it. Joe arranged a collection at the shows and this raised over £300 for the PSF UK.

University of Creative arts in Canterbury

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jordanuniJordan has recently started his second year at the University of Creative arts in Canterbury.  He has an adapted flat on campus and he is right near to the city centre. He has made some amazing friends and loves the architecture course which is tough and full on!  He has visited Barcelona and Paris and next year they are going to Munich.  Jordan drives his own ‘drive from wheelchair’ vehicle. Jordan gets help every day with his cleaning and cooking but other than that I am so proud of what an independent and determined young man he is. He has fought through all his battles and is still an inspiration to so many.

Segmental overgrowth

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Segmental overgrowth – printed with the permission of Mandy Sellars from her website

Mandy writes – Back in 2012 I was a patient at Addenbrookes hospital in Cambridge where two amazing doctors, Dr Robert Semple and Dr Vicki Parker had been researching my condition using DNA sequencing. Their result was utterly amazing and something that I never thought would happen in my lifetime. They had found the faulty gene that causes the overgrowth in my legs and feet, which also indicated that my upper body is not affected by this gene mutation. This turned out to be a single letter mutation in the PIK3CA gene. I was the first person in the world to be discovered with this exact gene mutation, which is something that I am extremely proud to say.

What follows is information from my doctors in to Segmental Overgrowth which includes the PIK3CA mutation:

What is segmental overgrowth?

Segmental overgrowth describes a condition where there is an excess of growth in different parts of the body, but normal growth elsewhere. Examples of this include:

·         PIK3CA related overgrowth spectrum (PROS)

·         Congenital lipomatous overgrowth, vascular malformations, epidermal naevi and skeletal abnormalities (CLOVES)

·         Macrodactyly

·         Macrocephaly-capillary malformation (M-CM)

·         Proteus syndrome

·         Klippel-Trenauney Syndrome (KTS)

What causes segmental overgrowth?

Segmental overgrowth disorders have recently been shown to be caused by changes in genes (genetic mutations) which cause key growth signals in cells to be switched on all of the time. The genes in which these mutations have been found include;

·         PIK3CA

·         PIK3R2

·         mTOR

·         AKT1

·         AKT3

Is this an inherited condition?

These conditions are not inherited in the usual way from parents, and are equally not passed onto children. A genetic mutation occurs early on in pregnancy in a single cell when the foetus is just a tiny ball of cells. As just one cell is affected at this time, only some parts of the body are affected, whilst other parts grow normally. The genetic mutation occurs because the cell makes a mistake in copying DNA when dividing to create a new cell; there are no known in utero triggers for this.

Will the overgrowth ever stop?

In some patients, overgrowth continues into early adulthood and then slows down or stops, but in others, growth continues into adult life. At present there is no way of predicting whether someone will keep growing or not, but research efforts are underway to answer this question.

Is there an increased risk of cancer?

Many of the genetic mutations found in segmental overgrowth conditions are also found in cancers. However, cancers have lots of different genetic mutations and current scientific evidence suggests that the gene changes found in segmental overgrowth do not trigger cancer. The current reported rate of cancers is low in patients with segmental overgrowth, however future research studies are needed to determine the true risk, and in the meantime, your doctors will monitor you or your child closely for this.

Are there any available treatments?

At present the main treatment for overgrowth is surgical removal of tissue, or operations to slow down growth. However, finding the genetic cause of these conditions has opened up the possibility of treatments with drugs that may be able to stop or slow down overgrowth. If you or your child is severely affected, your doctor may discuss with you a treatment called sirolimus (rapamycin) or everolimus. These drugs help to slow growth in cells, and there is a small amount of evidence to suggest these may help in some forms of segmental overgrowth.

We are currently setting up a trial in patients with PIK3CA related overgrowth (PROS) to see if sirolimus is better than sugar tablets (placebo) at reducing overgrowth. If you are interested in treatments or wish to know more about our trial please you can check our clinical trials page for more details.

How do I get myself or my child tested?

As part of our research study, we can test for the gene changes commonly found in segmental overgrowth conditions, and can be contacted directly to organise this via our email address: Alternatively, you can discuss testing with your GP or local doctor. In order to test, doctors will need to look at DNA taken from an affected area of overgrowth, and this may require taking a small sample of skin (skin biopsy).

You can also take a look at the Facebook and Twitter pages for more information:

Proposals for super specialised clinic for segmental overgrowth disorders

I was invited to attend a meeting with Dr Rob Semple and Dr Victoria Parker from Addenbrookes Cambridge.

Other attendees were Miss Rachel Knox, Ms Leena De Silva and Mr Graeme Clark from Cambridge, Professor Peter Mortimer, Dr Sahra Mansour and Dr Glenn Brice from St George’s Hospital, London, Dr Veronica Kinsler, Dr Anna Matinez, Dr Lindsay Shaw from GOSH and Professor Jill Clayton-Smith from Manchester.

Patient Support Groups represented were Mandy Sellars and Sue Harper for GoPI3Ks, Ms Lorraine Yeomans and Ms Julia Higgins from M  and Jean Harrison and Sarah Gardiner from the Proteus Family Network.

The meeting discussed proposals for setting up regional clinics for segmental (mosaic) overgrowth disorders including those mentioned in the information from Mandy Sellars.

We discussed locations of these clinics and the most likely locations are London, Manchester and Cambridge.

The support groups that attended were asked to survey their members in order to influence and support the clinic proposals that were going to the NHS. We need to demonstrate that these clinics will not require additional funds and may actually save the NHS money. Some of you will have received surveys and thank you to those who returned these. The results have been passed on to Cambridge and we await the results.

How to get tested for the AKT1 mutation /get your Proteus diagnosis confirmed

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Dr Robert Semple has explained:

Any who are interested in genetic testing, especially those who do not have easy access to this through their existing doctors (for example in Manchester or at Great Ormond Street) are welcome to contact the Cambridge team (details below) to discuss how this can be arranged most easily.

Sometimes testing can be organised by arrangement with local hospitals, or using stored tissue samples where relevant, but often a trip to Cambridge is be required for consultation and skin biopsy. Travel costs are reimbursed for research visits, and every effort is made to work around patients work and school schedules and other commitments.

Dr Robert Semple FRCP PhD

Reader in Endocrinology and Metabolism,

University of Cambridge

Wellcome Trust-MRC Institute of Metabolic Science,

Level 4, Addenbrookes Treatment Centre

Cambridge CB2 OQQ UK

Tel: +44 (0)1223 769035

Fax: +44 (0)1223 330 598


Or contact:

Dr Victoria ER Parker MBBS MRCP

Box 289 Level 4 WT-MRC IMS

ATC Addenbrooke’s Hospital

Cambridge CB2 0QQ

01223 768455

Trials for PIK3CA and other overgrowth conditions are already underway.

Research and drugs trial update

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I attended the Proteus conference in Bethesda, USA from 17 to 19 September 2015. Dr Les Biesecker and his team have been successful in getting agreement to run a drugs trial.  You will recall that his team discovered the gene that causes Proteus (AKT1), back in 2011. This followed around 19 years of research involving patients from around the world who gave tissue samples from biopsies and surgeries. The research looked for the gene mutation in around 3 billion possible changes, so a mammoth task.  Funding provided by PSF in America and our UK group helped with the research, allowing use of new technologies, such as next generation sequencing. AKT1 is a protein involved in signalling, these processes are essential to cell growth, telling cells to grow, to not grow or to die or divide. You can still read about finding the cause at:

The pharmaceutical company ArQule are on board with the drugs trial and have been using ARQ 092 for some time, treating some forms of cancer. The drug targets the AKT1 mutation that causes Proteus. The drug treatment is intended to deactivate or “calm down” the AKT1 effect. ARQ 092 achieves this in the laboratory but also in cancers so Dr Les Biesecker and ArQule are confident that it can work on Proteus.

The objective of the drug treatment is to inhibit the effects of AKT1 and allow normal growth signals. It does not kill the cells with the gene change. Remember that Proteus is a mosaic condition and not all cells have the AKT1 mutation.

Very low side effects are expected and the treatment would be long term. AKT1 is known to regulate insulin so one expected side effect would be an increase in blood sugar. This is manageable.

The FDA have now given approval for the trial. The design of the study (to test the drug) involves giving a dose of the drug and measuring the effect in the tissues.  The dosage can then be adjusted up or down.  Tissue samples would be collected before the drug was administered and patients in the drug trial will receive a low dose to start with. Tissue would be collected again and the activity of AKT1 would be measured again.  They are aiming for a 50% reduction in activity and the drug can be adjusted to achieve this.  There are rigid protocols for the study which are not individually tailored.  To begin with this will involve a 4 week stay at National Institutes of Health, Bethesda, USA.  This will involve blood test, urine tests, genetics examinations, ECG, MRI etc. The first week would involve being an inpatient at NIH, the next 3 weeks as an outpatient (although people living a distance from NIH could apply to live on the site).  Thereafter visits every other month.  The study would continue over a period of one year. Anyone on the drugs trial, where success is identified can receive the drug cost free.

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