About Gorlin Syndrome Group
What we do
The Gorlin Syndrome Group is a support network offering guidance and information to individuals with Gorlin syndrome, and their families and carers.
The group is organised by people with the condition and their families. We are supported by a team of Medical Advisors comprising healthcare professionals from across a range of disciplines, and are grateful for their continued support.
Our aims are to offer guidance and information to individuals, their carers, family and friends with Gorlin syndrome. To help with the advancement of the education of the medical profession and its implications for the family and to promote research into the causes, effects, treatment and management of Gorlin syndrome.
Every effort has been made to ensure the information on the Gorlin Syndrome Group website is up to date and accurate. The information is not a substitute for medical care. If you have worries about your condition then speak to your GP or Consultant at the hospital.
Gorlin Syndrome Group shall hold responsibility for the accuracy of the information they publish. Neither the Scheme Operator nor the Scheme Owner have any responsibility whatsoever for costs, losses, or direct or indirect damages or costs arising from inaccuracy of information or omissions published on the website.
The Gorlin Syndrome Group cannot be held responsible for the content or accuracy provided on external web links.
History
The Gorlin Syndrome Group (GSG) was formed in the UK in 1992 by the late Jim Costello and his wife Margaret, with the assistance of Professor G R Evans and Professor P A Farndon, their staff and the Clinical Genetics Departments at St Mary’s Hospital, Manchester and Birmingham Women’s Hospital.
Before establishing the group in 1992, we were all enduring the isolation, lack of information and inappropriate treatments experienced with rare disorders.
Jim, who himself had Gorlin syndrome, set up the support group with a handful of members and strove to establish medical advisor links to ensure we had regular and timely access to information on the best treatments, support services and advice. These links led to the development of national partnerships with the government to have a voice in the health care planning and with links to the media, the most notable the BBC documentary, Bitter Inheritance. Jim sadly died in December 2002.
Whilst caring for Jim, Margaret virtually ran the group during the last year of his life with the help of their children Helen, Jane and Richard. She continued to devote many hours to furthering the aims of the group, helping sufferers and their families to understand the disease through our website and to engage with others through our Facebook page. We are deeply indebted to Margaret for all the work she has achieved over the past 30 years by raising awareness and promoting research to help so many members of the Gorlin Syndrome community worldwide. Margaret passed away in September 2022.
Jim and Margaret leave behind a great legacy, for which the trustees of GSG are immeasurably grateful. We are so proud to be able to take forward their legacy and continue to participate in research and developing and improving standards to enhance the lives of those with GS.
As our tribute to their work, we have assembled some of the more notable events in the history of the group and, in particular, Margaret’s role in our development. It is a little patchy in places being an act of collective memory by those who remember the early days.
The beginning
Because the Costello family lived in Lancashire, they came in contact with the genetics team at Manchester hospitals and in the early 1990s established strong links with consultants who became the core of GSG’s Medical Advisor Team:
Professor Gareth Evans
Consultant medical lead Genetics, regional clinical genetics unit, Manchester
Professor Peter Farndon CBE
Consultant clinical genetics lead, the national genetics education centre, Birmingham
Dr. Ernest Allen Consultant
Clinical oncologist
First meeting
As far as we can tell the first meeting of the group was on 1 November 1994 at St Mary’s Hospital Manchester. We had the privilege of meeting Professor Robert Gorlin who had reluctantly given his name to the condition and became our patron. Professor Gareth Evans and Professor Peter Farndon also attended and gave talks on the condition The meeting was so oversubscribed that people were sitting on tables!
It was about this time that the first contacts were made with Gorlin people in United States, then called the ‘Basal Cell Carcinoma Naevoid Syndrome Group’ through Kristi Schnitt-Burr and Bud Caruso. Margaret also created links with Inger Tysland and Rose Hegli from Norway and Netherlands.
Taking shape
Still working with Jim and a few willing helpers, Margaret organised more meetings: Wendover Hotel Eccles in 2000 and Park Hall Hotel Chorley in 2001. There was also the first website.
The following year saw the development of our constitution, and Jim and Margaret went to the BCCNS Conference in Cleveland Ohio. Alongside the constitution was Margaret’s determination that any medical advice that she – as the voice of GSG – gave should be backed up by our Medical Advisors.
The whole family took part in the BBC Documentary “Bitter Inheritance”.
In the same year Gorlin Syndrome Group was granted charity status, and we received our second major contribution of £2,500 per annum for three years from the London Law Trust. In 2001 Sonya and Ashley Dean had raised £9500 with 50% for GSG. Another conference was held at Park Hall Hotel Chorley.
Jim Costello sadly died on 9 December 2002.
Despite the inconceivable difficulties and pain he suffered, Jim inspired us in his ability to make the most of his life circumstances. Jim was our counsellor and friend, whether on the phone or in his company. Jim rarely spoke of his condition, always wanting to hear of others – listening, consoling and lifting our spirits. Along with his natural warmth and sincerity, Jim had an incredible sense of humour and a wonderful presence of being.
Jim’s gift to us is incalculable and irreplaceable. He has left us an invaluable network that will ensure our children and future generations receive the best information to make choices and treatment options available.
We will always have a permanent vacancy for our counsellor and friend, but we continue building on the legacy Jim left for us and to make the most of life as Jim did.
Conferences and newsletters
In 2003 Margaret and Sally Webster (our long-serving Chair) attended the conference meeting in Orlando with the BCCNS group, and while organising the next conference at Park Hall, gave an address to International Investigative Dermatology Conference Miami and attended meetings of the National Collaboration for Cancer under the aegis of NICE.
Throughout this time Margaret kept up a fairly regular supply of newsletters. Before accessible internet service, these were typed, printed, enveloped, and posted by herself with help from the always-willing family.
GS Route Map
After these early hectic and demanding days it is natural that things eventually settle into some form of routine.
2005 saw an Annual Conference at Park Hall Hotel Chorley, and the early attempts at developing a website.
In 2006 at our Conference and AGM in Oxford, Margaret began the GS Route Map: a printed guide to Gorlin Syndrome for patients and clinicians.
In 2007 we gathered again at the Park Hall Hotel Chorley, where Margaret was in an accident that broke her left femur. Margaret and Sally were again at the British Association of Dermatologists Conference in Birmingham and the AGM in Cheltenham. GSG registered with Orphanet (a European organisation providing information about rare diseases) and published the Gorlin Syndrome Route Map.
Throughout all this time Margaret kept up that thing which she is best remembered for: the telephone helpline. To be able to pick up the phone and call someone who knows what it is like to have Gorlin syndrome is a lifeline. Whether you called her because you were going through a tough time, needing advice or just called her for a catch up she always had time for you. Newly diagnosed people found that she was a source, not only of solid advice but reassurance and comfort as well.
Margaret continued developing links with U.K., European and Global health organisations: Euro Health, Rare Disease UK, Genetic Alliance, NICE Patient Information Forum News.
Here are typical examples of the major events of the following few years:
Presentation at North West Genetics Knowledge Park (Nowgen) and the Facebook GSG support group was started April in this year as well.
Gorlin Syndrome in the UK, a survey of patient needs, treatment availability and outcomes. Dr. John Lear, Professor Gareth Evans, Margaret Costello and Sally Webster. This was published in the Journal of Rare Diseases.
Birmingham GSG Conference 24/10, AGM at NOWGEN, Attended Chicago Conference.
Received £2000 from BAD Support fund, Attended Genetic Interest Group Conference
Crowne Plaza AGM and Networking
Further developments
During 2016 further Website development and, in May, first launch of Pellepharm trial (patidegib) Patient Conference at Clayton Hotel, Manchester Airport.
The ongoing campaign with APPG (All Party Parliamentary Group on Skin), BAD, NICE and MHRA (Medicines and Healthcare products Regulatory Agency) about sun protection. This is still ongoing.
Gorlin uncovered
The Gorlin Uncovered 2018 was a UK survey pioneered by Margaret. The survey highlighted the psychological impact of Gorlin syndrome, and was used to raise awareness amongst clinicians treating individuals with Gorlin syndrome.
LEO Pharma
Our first connection with LEO Pharma was made in 2018. Margaret represented GSG at meetings initiated by LEO Pharma in Copenhagen and Manchester, relating to Phase II of the Pellepharm trial (patidegib), which started the following year.
2019 was also when the Gorlin Syndrome Global Survey was launched, and a busy year for Margaret as she led demanding work throughout the year with LEO and Gorlin Syndrome Alliance in Patient Value Proposition. The PVP was designed by a task force of leadership representatives from the GSA (Gorlin Syndrome Alliance, previously BCCNS) and the GSG, as well as patient engagement experts from LEO Pharma and Pellepharm. Margaret also took part in the EPIC (Expert Partners & Innovation Consultants) programme.
COVID
New leadership
With the COVID pandemic from 2020, we weren’t able to hold any Conferences and Events.
Sally and Margaret handed over their duties as chair and secretary to David Rowley and Peter Rowley in early 2021.
David and Peter attended the British Association of Dermatology conference in Glasgow in July 2022.
Margaret sadly died in September 2022.
We received funding from the British Association of Dermatology (BAD) which enabled us to launch this new website at our Conference in May 2023, with our new Chair, Vicky Gill.
The Group’s current Trustees and Advisors can be seen here.