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News & Views Winter 2010 A huge thank you to Claire On behalf of Trustees, the patients and families we support and on a personal level I would like to say a huge thank you to my niece Claire. Claire took part in the Great North Run in September in memory of Jim, her uncle and founder of Gorlin Syndrome Group. I’m very proud and happy to advise that Claire completed the run in 2 hrs, 19 mins and 59 seconds. Sincere thanks to Claire for her effort and enthusiasm and a special thank you to all those who sponsored her, your support raised £512.50, inclusive of Gift Aid. Margaret Costello Yorkshire Waterwheelers Our thanks go to John Pismeny and staff at Yorkshire Water for their donation of £150.00. The money was raised in their Jeans for Genes Day collection. Thanks to all who contributed. We were saddened to hear of the death of Jane Williams, a regular at patient events for many years. Jane was one of 5 people at the first meeting of the group in 1992 at St Mary's Hospital in Manchester. Jane moved to the Isle of Arran off the West Coast of Scotland a number of years ago but remained in touch. Jane died peacefully in her sleep, aged 62, on Monday, 12th July 2010. Jane will be sadly missed.

Welcome to all newsletter readers Since becoming a member of this group in 1993, knowledge and treatment for GS has increased, however the last 12 months has been so exciting. At the annual patient conference we heard of technology advances in the provision of portable PDT treatment, the application of genetics to develop new treatments for both uncomplicated and advanced GS skin cancers. A summary of all the medical speakers is included in the newsletter to help further inform those unable to attend. The best part of the day for me as Chair was the privilege of conducting an interview with Oliver Dean. With the most amazing sensitivity, maturity and strength of character, Oliver described how he copes with all the complications of GS in a very positive and considered way. His early memories include awareness of his need for hospital appointments when no one else in school did, and in later years problems with bullying in school. With the support of his family and medical team, Oliver seems to deal with everything and has not allowed GS to stop his fun. He is passionate about football and sports, and is currently studying with a view to a career in the tourist industry. Acknowledging life requires practical adjustments, Oliver has the coolest cap that provides sun shade when playing football. As well as family support Oliver recommends talking about your condition and keeping in touch with the GS group as one of the key ingredients to keeping a positive focus. Talking to Oliver was so refreshing and encouraging. Again we extend our thanks to Oliver and wish him well in his plans for the future. I hope you find this newsletter informative. Finally, I take this opportunity to wish all readers a happy and healthy Christmas and New Year. Sally Webster, Chair

This section of the newsletter includes summaries of the various sessions and speaker input at the Annual Patient Conference held at Novotel Birmingham City Centre on Saturday, 23rd October 2010.

Skin Care Campaign (SCC) Andrew Langford, Chief Executive SCC is an umbrella organisation representing the interests of all people with skin diseases in England and Northern Ireland. SCC is run by patients for patients, with patients at the centre and aims to:   

improve healthcare for people with skin diseases educates and informs health policy makers and health professionals supports organisations to pursue these aims.

SCC advocates and works to improve public perceptions and reduce the stigmas associated with skin disorders. Andrew Langford, Chief Exec has contributed to the parliamentary inquiry into skin cancer and works collaboratively with the Department of Health named lead for dermatology that is also the lead for cancer and end of life care. Andrew reports that dermatology is generally poorly funded and services are often cutback. With the latest NHS reorganisation the SCC will oversee the commissioning of skin care services. There are potentially more opportunities for patient involvement in the commissioning of services to directly improve the quality of services. This could involve the Gorlin Syndrome Group to work alongside SCC to advise on the commissioning of services, to inform the standard of service Gorlin Syndrome patients should expect. If you are having any problems accessing Dermatology services then SCC can be contacted to intervene on your behalf. SCC can be contacted as follows: Tel: 07810 564913

Genetics of Gorlin Syndrome Professor Peter A Farndon All humans are individually made from a collection of chromosomes that determine how we look and function. We have 23 chromosomes from both our mother and father, making a total of 46 chromosomes. Gorlin Syndrome is caused by a defect on the genes in the 9th pair of chromosomes. Gorlin Syndrome is caused by an imbalance of communication in cells. There are mainly two chemicals involved, sonic hedgehog and patch. The patch gene is responsible for growing and sonic hedgehog is the communicator between cells. Gorlin Syndrome features vary from person to person based on the fact we are a mixture of individual genes from our parents that are influenced by sonic and patch, therefore some people have stronger or more severe features. In Gorlin Syndrome the cells grow without control. This can result in:    

cleft palate jaw cysts calcium deposits palmer pits extra digits

Radiotherapy can increase cell growth, therefore in Gorlin Syndrome where cell growth occurs without control, radiotherapy is not advised. There is no evidence that OPG (X ray) for diagnosis of jaw cysts does any harm. If one parent has Gorlin syndrome there is a 50% chance of passing the syndrome on to their child. New treatments are undergoing trials. These treatments are based on the understanding of the genetic pathways including how patch and sonic can be controlled to prevent the over growth of cells.

Clinical Trial LDE225

Ambulight PDT – Therapy in Motion

Margaret and Jane Costello Robin May, Senior Medical Adviser/Medical Expert LDE225 – Novartis Pharmaceutical UK

Gary Conroy – Ambulight PDT Wayne Hicks – Schuco International Dr E Allen – Consultant Oncologist, Christie Hospital

Margaret was invited by the European Medical Agency to attend the Scientific Advisory panel to review LDE225 in March 2010 to consider the safety In September Jane and Margaret were further invited to a patient on campus day in Basel, Switzerland by Novartis alongside Gorlin Syndrome patients from other countries including Holland, Switzerland and America. Margaret and Jane reported from the day in Basel. LDE225 blocks the overgrowth of cells in the genetic pathway and is available as a topical treatment (Phase 1 trial) and oral tablet (used at Phase 2 trial). Phase 1 trial involves the use of the topical cream. It’s a double blind trial with patients taking treatment twice daily for 4 weeks. (Double blind means neither the patient nor doctor knows who is receiving placebo or treatment). Cells are reviewed weekly by digital photography and biopsies, and to assess the safety and tolerability of drugs. Tumours included in the trial are up to 2cm in width with various depths but not nodular: Early results show   

9 patients with partial response 3 with complete responses 1 with no response.

No reported serious adverse events The trials are ongoing in Austria and Switzerland but it is expected they will extend across Europe subject to approval by the European Medicines Agency. The trial is only currently available for people aged over 18 years. We are extremely grateful to all speakers who gave up their time at the weekend to be with us. Thanks to all.

Ambulight has produced a device that enables PDT to be delivered outside of the hospital. The device is fitted after the cream has been applied and can be fitted by a specially trained GP or nurse to avoid hospital visits. The device is automatically activated and delivers the treatment over 3 hours and is less intense than the conventional PDT, therefore less painful. The device is suitable for flat services where movement is limited. Currently the device is undergoing NICE appraisal and will be available soon. The trial results so far suggest the experienced is much less with ambulatory device. Future products include multiple heads to treat more one lesion at once.

pain the will than

Dr Allen updated the following progress and outcomes with PDT treatment using the ambulatory device with 3 based cell carcinoma patients .Within all 3 patients a reduction and shrinkage in tumour can be observed. The thicker tumours require multiple treatments or are reduced to a level where Efudix cream can be used to eradicate the tumour effectively. Superficial tumours show evidence of resolution. Erythema, redness and swelling around the treatment area which quickly resolves is common. The time between treatments is usually one month depending on healing. As usual the crèche went down extremely well with the children. They were kept busy with a host of activities whilst their parents were able to participate in our annual event. Thanks to the staff of Safehands Network! For the first time this year we also offer thanks to Macmillan for a grant in support of the patient conference. This enabled us to support attendance for patients and their families.

New RDUK report highlights experiences of patients and families living with rare conditions

Gorlin Syndrome Group 11 Blackberry Way Penwortham Preston PR1 9lQ Phone: 01772 496849 Email Web site Registered Charity No: 1096361 The Gorlin Syndrome Group was formed in 1992 by Founder and First Chair Jim Costello (deceased)

Patrons Professor R J Gorlin (deceased) Professor P A Farndon

A new Rare Disease UK report highlights a number of worrying issues experienced by patients and families affected by rare conditions. The report, “Experiences of Rare Diseases: An insight from patients and families”, deals with the views and experiences of 600 patients and families affected by over 100 different rare conditions on a wide range of topics ranging from research to diagnosis, and access to care, information, support and treatment. Although some patients and families indicated positive experiences of timely diagnosis and good quality care and support from the NHS, unfortunately this is not the case for the majority of patients and families with rare diseases. There are over 6000 recognised rare conditions each with different symptoms and prognoses, yet the publication highlights how patients and families frequently face common problems. Some of the problems highlighted by the report include:       

Professor G R Evans

Trustees / Committee Sally Webster – Chair John Dooher – Treasurer Margaret Costello – Secretary Vicky Gill Robert Webster Helen Costello

Backed by a Medical Advisory Board consisting of healthcare professionals covering the many aspects of Gorlin Syndrome

We are grateful for their continuing support.

  

Significant delays in diagnosis. Patients being misdiagnosed (often multiple times). Patients having to visit multiple specialists before receiving an accurate diagnosis. Difficulties in accessing information and support. Fragmented and poorly coordinated care. Patients having to attend multiple hospital appointments often at a long distance from home. Problems during transition from paediatric to adult services. A lack of effective treatments. Inconsistencies in access to medicines. A lack of information and opportunities to be involved in research.

Rare Disease UK is the national alliance for all those with an interest in rare diseases brought together to campaign for a strategy for rare diseases. The Chair of Rare Disease UK, Alastair Kent said: “Many people living with rare diseases and their families have to go through years of medical tests and procedures before an accurate diagnosis can be made. Not only is it often a battle to get an accurate diagnosis, patients and families then struggle to find out the medical impact of a condition and how to manage it, on top of having to cope with day-to-day life without adequate support. The results of RDUK’s survey hammer home the need for a co-ordinated UK-wide strategy for the diagnosis, treatment and research of rare diseases. This is a hugely important issue that needs to be tackled; patients and families should not have to face an inequitable level of care from the NHS because they have the misfortune of their condition being rare.” The report is available at: If you would like a hard copy of the report, please contact: Tel No: 020 7704 3141

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