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The New UK Fanconi Anaemia Registry – Your involvement needed!

Friday, May 18th, 2018

To all patients and families in the UK living with FA

Just email beth.lee@fanconihope.org to get involved!

Through the financial support of the Fanconi Hope Charitable Trust, Dr Stefan Meyer from Manchester University and the Central Manchester University Hospitals NHS Foundation Trust has now launched the UK Fanconi Anaemia Registry under the study name “Long Term Health Implications of Fanconi Anaemia”. This has full ethical approval and a dedicated FA coordinator, Beth Lee, who will collect and collate the data from Fanconi Anaemia (FA) patients and their families. Marc Tischkowitz (Dept of Medical Genetics, Cambridge) and Kate Chandler (Dept of Genomic Medicine, Manchester) are providing input on Genetic aspects.

The need for a Registry has long been recognised by Fanconi Hope, since, encouragingly, increasing numbers of FA patients are surviving longer into adulthood. However the following FA management issues need to be addressed.

  • Older FA patients are not managed uniformly as evidence based guidelines are lacking;
  • Provisions for adults with genetic conditions like FA and resulting complications are very variable;
  • Current care guidelines mainly address management of FA in childhood. To what extent these guidelines are implemented is not known, and may vary significantly between centres;
  • For older children, teenagers and adults no formal FA management guidelines or evidence for guidelines exists for risk assessment and surveillance of adult onset cancers, e.g. squamous cell carcinomal or breast cancer;
  • There is a need to obtain observational data to better determine the level of risk and thus provide management guidelines for effective cancer surveillance;
  • There is no consensus on how to treat adult type malignancies arising in patients with FA.

Fanconi Hope has therefore fully funded the creation and maintenance of the first UK FA Registry under the study name “Long Term Health Implications of Fanconi Anaemia”. This has only been made possible through donations and funds raised by FA families, their friends and relatives across the UK.

This is a very long term study designed to track patients’ health over many years. For this to be effective however we need you as patients and parents to be involved, contributing to the Registry on a regular basis, by interacting with Beth Lee, our FA Research Coordinator who is Fanconi Hope’s direct link to the Study.

Beth is a highly experienced FA Nurse at the Royal Manchester Children’s Hospital, and is employed through the study on a part-time basis to carry out the research Coordinator role, whilst still practicing as an FA nurse.  To get in touch with Beth, please email her at beth.lee@fanconihope.org and she will arrange a convenient time to talk to you, or you may continue corresponding purely by email if you wish.

 

 

Your support for this project is vital in generating the information that is needed to ensure best practice care for every FA patient across the UK, so please do sign up. In turn, you will gain from Beth’s extensive knowledge and access to the specialist FA consultant/researcher community, to help answer your questions as you go through the FA journey.

Newsletter and Info from FA Conference now available

Sunday, December 24th, 2017

Fanconi Hope held a successful Conference and Family Fun Day on Oct 14th near Birmingham. You can download some of the presentations and see some of the photos here

Read our Dec 2017 Newsletter now.

Fanconi Hope Announces Appointment of New UK FA Coordinator

Monday, July 18th, 2016

 

Beth Lee - Fanconi Hope FA Coordinator

Beth Lee – Fanconi Hope FA Coordinator

Fanconi Hope has taken an important step forward in support of improved care for the Fanconi Anaemia (FA) community in the UK by funding a long term study through Manchester University called: “Observational study for long term health implications of individuals affected by Fanconi Anaemia”.

One of the first activities in this study, which started in May 2016, was to fund a Liaison and Research Coordinator for Fanconi Hope, as a central point of contact for patients and parents, clinicians and researchers across the UK for all matters relating to Fanconi Anaemia, whether it be queries from parents about what treatment to expect, queries from patients on what regular check-ups will be required in adulthood, or queries from consultants who have little experience in dealing with FA due to the rare nature of the condition.

We are delighted therefore to announce the appointment of Beth Lee as Liaison and Research Coordinator. Beth is an experienced paediatric nurse, who has been working at Royal Manchester Children’s Hospital for nearly thirty years, mostly in paediatric haematology and oncology. For the last eight years she has been the lead nurse for the Fanconi Anaemia and cancer associated syndrome service at the Royal Manchester Children’s Hospital. Beth will be supported by experienced consultants in Manchester and Cambridge who are running the study.

Beth is working 1 day/week initially and if you would like to drop her a line to introduce yourself, she will be delighted to email or phone you at a mutually convenient time to learn more about how she can help you.

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We would like to thank all those of you who have made this possible by fundraising for Fanconi Hope and would urge you to continue fundraising so that we can extend the study and the support that it brings beyond its initial 5 year duration.

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More about the Study and its Objectives

We have funded this study because although guidelines for the management of FA are available for clinicians and patients, these mainly address FA only in childhood. The extent to which these guidelines are implemented is not known, and may vary significantly between UK centres. Added to that there is sparse evidence for the management of adolescents and adults with FA, and in particular no consensus on how to treat squamous cell carcinomas arising in FA.

The Study, which is designed to meet the emerging needs of the increasing adult populations with FA and make the best possible management available for children and adults with FA, is fully funded by Fanconi Hope and is being run by a highly experienced team of FA consultants and researchers in Manchester and Cambridge: –

Stefan Meyer

Stefan Meyer

  • Stefan Meyer, Senior Lecturer / Consultant Paediatric Oncologist at the University of Manchester and Royal Manchester Children’s and Christie Hospital.
 
  • Kate Chandler, Consultant Clinical Geneticist, Manchester Centre for Genomic Medicine at Saint Mary’s Hospital.
 
Marc Tischkowitz

Marc Tischkowitz

  • Marc Tischkowitz, Reader and Honorary Consultant Physician in Medical Genetics, Department of Medical Genetics, University of Cambridge and Addenbrooke’s Hospital.

The objectives of the study are to:-

  • Provide a first point of contact for patients and parents, clinicians and researchers across the UK
  • Over time, establish a database of clinical and genetic data of FA patients in the UK – “the UK FA Registry”
  • Evaluate current care pathways and provisions for the management of FA in children.
  • Evaluate current care pathways and provisions for the management of FA in adults.
  • Support the provision of support and clinical care coordination for patients with FA.
  • Facilitate sample collection of tissue from FA patients and storage at the Manchester Cancer Research Centre Bio Bank to facilitate translational research.