As Fanconi Hope’s fundraising activity gains momentum, the opportunity to invest in UK-based research grows. The Charity Trustees are therefore reviewing research options and have now produced a  downloadable list of UK researchers  who have produced research relevant or relating to Fanconi Anaemia. If you have proposals for research topics please contact us

The first UK FA Family Meeting is to be held at Chatsworth House, Derbyshire on September 18th and 19th 2009 and all FA-affected families are welcome.  There will be 4 guest speakers followed by an evening meal on Friday and more informal discussions with clinicians and other families on Saturday. More details will be published shortly.

The first Fanconi Hope Newsletter has now been published and can be downloaded here. If you would like to contribute to the next edition please contact us

The first UK FA Standards of Care Guidelines have now been published. This significant milestone has been reached through the efforts of specialists  in the UK FA Clinical Network, with additional contributions from specialists in the US and Germany. The document is edited by Mr Thomas Carroll and Prof Ajay Vora. download here (500Kb pdf)  or here (1MB Word 2003 doc). (Available shortly in hard copy on request).

The document will serve as a benchmark for provision of care, clinical audit, and the UK and Ireland Fanconi Anaemia Register (UKIFAR) project.

It will also be of interest to FA affected families, to discuss with their clinicians.

A special thanks to Thomas Carroll without whose tireless efforts this groundbreaking document would not have been produced.

Fanconi Hope was invited to send a representative to a Human Fertilisation and Embryology Authority (HFEA) PGD consultation meeting in London recently. Here is a report from Thomas Carroll  who attended the meeting on behalf of the Charity:-

“The Human Fertilisation & Embryology Authority (HFEA) is currently running a national consultation on aspects of its role in light of the new Human Fertilisation & Embryology Act.  This consultation process has included a number of national meetings including a meeting specific on pre-implantation genetic diagnosis (PGD).  This PGD meeting was held at the National Council for Voluntary Organisations’ Offices at Regent’s Wharf, London, on Monday 26^th January 2009.  Fanconi Hope was invited by the HFEA to provide representation at this PGD meeting.  I attended this meeting on behalf of Fanconi Hope.  The meeting began with an initial address by Professor Lisa Jardine, Chair of the HFEA, with subsequent presentations by an expert panel, discussion, and break-out workshop sessions.  The audience included representation from the PGD healthcare professional and scientific community, healthcare commissioners, and relevant patient groups.  Further details concerning the HFEA consultation process can be found at http://www.hfea.gov.uk/en/1753.html#pgd.

I raised a number of issues with the HFEA panel on behalf of Fanconi Anaemia-affected families and other families affected by disorders for which PGD/HLA-selection (‘Saviour Sibling’) might be an option. These issues included:

1. Necessity for a shorter turnaround time for licence approval. It was acknowledged that individual family licence applications were specifically required for families undergoing PGD/HLA-selection.  However, the length of time for licence application currently of about eight weeks is unsatisfactory from a family’s point of view.  Families looking to purse PGD/HLA selection have two ‘clocks ticking’, the maternal fertility ‘clock’ and their affected child’s bone marrow failure ‘clock’.  Their child’s diagnosis is generally only established when the mother is in early to mid-thirties.  A number of IVF cycles are often required for success.  The mother will be worried about the fall-off in her fertility.  Secondly the child affected by a disorder such as Fanconi Anaemia will have deteriorating blood counts on a month by month basis and may be already in significant bone marrow failure by the time a family are accessing PGD/HLA-selection.  Families will already have been through an emotionally difficult and often extended length diagnostic process.  Genetic testing may have taken a number of months.  Referral for consideration of PGD/HLA-selection may have been delayed or circuitous.  A family may have also had to endure a Primary Care Trust funding application process with funding rejection and appeal.  Anything more than a ten working day turnaround for a PGD/HLA-selection licence application by an established PGD provider for a disorder such as Fanconi Anaemia has to be considered as inappropriate and not in the best interest of the affected family.
2. Simultaneous licence application with PGD work-up. One possibility to facilitate families undergoing PGD/HLA-selection is for the licence application approval process to occur simultaneously with the PGD genetic work-up.  Currently the licence application process can only happen once the PGD genetic work-up has been completed.  This ‘fast-track’ process could apply to PGD providers who have already carried out PGD for the disorder concerned and for HLA-selection.
3. Consideration of a paediatric transplant haematologist on the relevant licence approval subcommittee. The current licence approval subcommittee dealing with PGD/HLA-selection licence applications does not include healthcare professionals whose specific interest is in the disorders relevant to which such licences apply.  I have suggested that a paediatric haematologist be nominated to participate in such PGD/HLA-selection licence applications.
4. Better publicity of PGD services providing PGD/HLA-selection. I passed on concerns from UK Fanconi Anaemia families about the difficulty concerning accessing information about relevant PGD services in the UK.  I have suggested that such information could be presented on the HFEA website with contact details for the provider concerned.  Such information should be disengaged from historic approved licence applications so as to get around perceived confidentiality issues.  Data relating to small patient numbers, e.g., less than five, is not presented in the public domain because of fears of individual family identification.  As a result, access by affected-families to provider PGD information concerning rare disorders and HLA-selection is limited.  One option is for a confidential enquiry service that could be accessed by the family’s clinician.
5. PGD outcome measures to be in the public domain. The statistical probability of success for PGD for both a genetic disorder such as Fanconi Anaemia and HLA-selection is lower than PGD for the genetic disorder alone.  Families undertaking PGD/HLA-selection need to be confident that their PGD provider has good outcomes for PGD in general.  Consideration should also be given to restricting the number of PGD providers providing HLA-selection to ensure individual provider experience is maximised.  We would have the view that PGD/HLA-selection is not simply just PGD done twice.
6. Moving away from the term ‘Saviour Sibling’ to e.g., ‘Baby of two hopes’. I made the point that Saviour Sibling is used in varying contexts including by individuals trying to imply, in an undermining manner, that the subsequent child born has been ‘designed’ to provide ‘spare parts’ for their sick brother or sister.  We prefer the term as in France ‘bébé de deux espoir’ or ‘baby of two hopes’ to reflect the parents’ aspirations to have another healthy disease-unaffected child and also to help save the life of their disease-affected child.

I have followed up these issues with a subsequent written submission to the HFEA”

Thomas Carroll met up with Prof Sally Kinsey and the team from the Genetics & Epidemiology Unit at the University of York on 12th Dec to discuss the UK & Ireland FA Registry. Substantial progress was made in discussing issues around the registry.

Prof Sally Kinsey and Team at York

From Left to Right:  Prof Eve Roman,  Prof Sally Kinsey,  Dr Tracy Lightfoot (Research Fellow),  Dr Alex Smith (Research Fellow).

Foreground:  Mr John Blasé (Research Assistant).

Their website is http://www.egu.york.ac.uk

Autumn Conference Session

The conference took place in the offices of UK Leukaemia Research on 16th and 17th of October 2008.

Attending the meeting were clinicians from wide variety of fields, each an expert in their chosen discipline and focused on improving the outcomes for FA affected individuals. In addition family members joined the conference.

The clinicians in this group treat many of the individuals affected by FA throughout the UK.

Further details will be published in the forthcoming Fanconi Hope newsletter and conference material made available where possible.

Topics covered on Day 1

Endocrine issues relevant to Fanconi Anaemia.

Dr Sue Rose, Paediatric Endocrinologist, Fanconi Anaemia Comprehensive Care Centre, Cincinnati Children’s Hospital.

Dr Stella Rose

Dr Sue Rose of Cincinnati Children’s Hospital was one of the Clinicians that had travelled from the US for the conference. Sue spent some of her time meeting with Leena Patel and in doing so started to bridge any gaps between European and US Endocrinology practice.

The therapies described by Dr Rose will form part of the UK Clinical Standards of Care document being produced by the Fanconi Hope Charity.

TNFAlpha & Haematopoiesis in FA/Etanercept trial

Prof Stella Davies, Paediatric Haematologist, Fanconi Anaemia Comprehensive Care Centre, Children’s Hospital Medical Centre, Cincinnati, Ohio, USA

Prof Stella Davies

Prof Stella Davies continued the contribution from US Clinicians. One key question that caused a lot of debate amongst the attendees to the conference was that of HPV vaccination. Prof Davies reminded the group that HPV is not only a causal link to cervical cancer but also numerous cancers of the mouth and neck. The final recommendations of the clinician in the conference will be incorporated into the UK Clinical Standards of Care document. Prof Davies went on to describe issues of Haematopoiesis in FA and the TNF Alpha/Etanercept trial.

Complementation group/mutational analysis

Prof. Helmut Hanenberg, Henrich Heine University, Dusseldorf, Germany

Prof Helmut Hanenberg

Prof Helmut Hanenberg described in some detail the approaches to genetic complementation analysis. Prof Hanenberg’s clinic is able to support UK clinics by providing a gene complementation analysis free of charge.

PGD/HLA-selection in FA (‘Saviour Sibling’ or ‘bebe du double espoir’)

Prof Marc Hughes, Centre of Molecular Medicine & Genetics, Wayne State University, Michigan, USA

Prof Marc Hughes

Prof Marc Hughes presented on recommendations for PGD/HLA-selection in FA affected families. Marc Hughes articulated the case for supporting families with PGD/HLA-selection. This led to a lively debate about whether it was right for all families and the materiality of maternal age. Broadly the consensus amongst the attendees that such an approach should be made available to families affected by FA. It was noted however that clinical judgement should be used in this approach as with all other recommendations in the Clinical Standards of Care document.

Topics Covered on Day 2

Clinical Standards of Care Document.

Review chaired by Prof Ajay Vora, Professor of Paediatric Haematology, Sheffield Children’s Hospital

Prof Ajay Vora

Day 2 was dedicated for a large part to a review and proposed signing of the Clinical Standards of Care Document, a very substantial piece of work by Thomas Carroll. Thomas had developed a FA Clinical Standards of Care Document as a ‘strawman’ for the meeting. Ultimately there was too much detail to sign off during the meeting and work is continuing to deliver a finalised document for publication. The conference as a whole noted the huge contribution that Thomas has made in getting the document to a workable standard. The Charity expects to publish the FA Clinical Standards of Care in Winter 2008 / 2009.

National FA Registry/UKIFAR Project,Dr Josu de la Fuente/ Dr Sarah Ball/Mr Thomas Carroll

Progress with the creation of a UK and Ireland Fanconi Anaemia registry was outlined by Thomas Carroll. More on this will appear in a separate post on the website.

Progress with the Fanconi Hope Charity and Website

Richard Kawalek discussed the status of the charity and the progress being made whilst Bob Dalgleish presented on the combined Clinical Network/Fanconi Hope website www.fanconianaemia.nhs.uk or www.fanconihope.org.

Next Meeting

It was a proposed that there would be a meeting in Autumn 09 which would include both clinicians/researchers and affected families

You can now raise money for Fanconi Hope whilst shopping online, without it costing you any more than usual. At www.buy.at/fanconihope you can access over 150 retailers, including Marks and Spencer, HMV, Waterstones, Carphone Warehouse, Littlewoods Direct and Early Learning Centre. Each retailer gives up to 12% commission on each purchase.  Switching gas and electricity providers through the site will give Fanconi Hope up to £14.