UK & Ireland Fanconi Anaemia Family/Clinical Network

Pauline Thaler at the US Fanconi Anemia Research Fund is working on updating their Family Directory for publication in early 2012. This is a worldwide family directory which allows people to to identify and contact other families in their area. Fanconi Hope does not currently maintain a separate UK Directory.

If you would like to be added to the list please contact Pauline  by phone or e-mail by Dec 23rd 2011 to ensure your inclusion in the next update. However, if you miss this particular deadline you can submit your details at any time since the directory is updated on a regular (at least annual) basis.

Wynand Van Der Merwe in South Africa has contacted Fanconi Hope to let us know that he has recently built a website called Fanconi Anaemia South Africa  in memory of his wife Madeleine.

The reason for the website is to raise awareness of the disease and hopefully register a non-profit organisation soon to provide financial aid to people living with fanconi anaemia, in need of medical procedures related to FA.

A Very Happy Christmas from Thomas, Louise, Mary, Stefan, Alan, Bob  and Jeannie at Fanconi Hope to FA Families everywhere.

And a special thank you to those who have raised funds for the Charity during the year!

New survey investigates patients’ experiences of getting a diagnosis of a rare disease in Northern Ireland.

Rare Disease UK has been in contact with Fanconi Hope to promote a survey on rare disease diagnosis  in Northern Ireland:-

Rare Disease UK has been actively involved with the Northern Ireland Rare Disease Partnership. The Partnership, with the support of the Patient and Client Council has launched a survey which aims to capture experiences of obtaining a diagnosis of a rare disease in Northern Ireland. The survey will inform a new publication which will be launched on Rare Disease Day 2012 (29th February). This publication will be instrumental in informing RDUK’s and the Northern Ireland Rare Disease Partnership’s future campaigning work.

The survey can be filled out by a patient affected by a rare disease or a carer, but remember we are looking for responses from Northern Ireland only.

The survey is available online by visiting the following link: https://www.surveymonkey.com/s/raredisease

If you would prefer a hard copy of the survey, or if you need any further assistance in completing the survey, please contact Sarah McCandless or Richard Dixon at the Patient and Client Council -  0800 917 0222 -

The deadline for completing the survey is the 16th December.

We would be grateful if you could forward information about the survey to any contacts in Northern Ireland who you think may have an interest. The more responses we receive, the stronger the results!

Thank you for your cooperation.

Best wishes,
Stephen Nutt
Executive Officer

RDUK Secretariat
Rare Disease UK
Unit 4D, Leroy House
436 Essex Road
N1 3QP
UK.

The Fanconi Anemia Research Fund is assisting Heather Zierhut, MS, CGC from the University of Minnesota, USA in a research project that involves a survey for parents of children and adults with Fanconi Anaemia. Please note that the survey needs to be completed by October 31st.

“Dear parents of children with FA,

You are invited to participate in an international study for ALL parents of children or adults with Fanconi anemia.  This 15 minute survey will ask questions about your feelings, decision-making, and experiences with preimplantation genetic diagnosis (PGD).  Although the focus of the research is PGD, we hope to hear from everyone not just families that have used the procedure.  Please read the consent form below.  If you agree to participate, please click on the link to complete the survey. Survey will close on October 31st, 2011.

http://www.surveymonkey.com/s/FAgeneticsstudy

Thank you for taking time to help us learn and better care for families with FA.

Heather Zierhut, MS, CGC and Dianne Bartels, PhD, MS, RN 

Consent Form

Reproductive and Genetic Technologies: Experiences and Perceptions of Parents of
            Children with Fanconi Anemia (FA) 

You are invited to be in a research study of parents’ decision-making and experiences with preimplantation genetic diagnosis (PGD).  You were selected as a possible participant because you are a member of a Fanconi anemia support group. We ask that you read this form and ask any questions you may have before agreeing to be in the study. 

This study is being conducted by:

Heather Zierhut, MS, CGC and Dianne Bartels, PhD, MS, RN from the University of Minnesota 

Background Information

The purpose of this study is to better understand the decision-making, obstacles, benefits, and feelings regarding the use of preimplantation genetic diagnosis of parents of children and adults with Fanconi anemia. 

Procedures:

If you agree to be in this study, we would ask you click on the link and complete an on-line survey. 

Risks and Benefits of being in the Study

The study has several risks: First, some questions may be personal in nature; Second, some of the questions may be sensitive in nature and could create emotional responses. The benefits to participation will not directly benefit you.  The study as a whole may provide insight to help future parents undergoing PGD as well as educate the healthcare and bioethical community. 

Compensation:

There is no compensation for participation in this study. 

Confidentiality:

The records of this study will be kept private. In any sort of report we might publish, we will not include any information that will make it possible to identify a subject. Research records will be stored securely and only researchers will have access to the records. Study data will be encrypted according to current University policy for protection of confidentiality. 

Voluntary Nature of the Study:

Participation in this study is voluntary. Your decision whether or not to participate will not affect your current or future relations with the University of Minnesota. If you decide to participate, you are free to not answer any question or withdraw at any time without affecting those relationships.

Contacts and Questions:

The researchers conducting this study are: Heather Zierhut, MS, CGC and Dianne Bartels, PhD, MS, RN. You may ask any questions you have now. If you have questions later, you are encouraged to contact them at University of Minnesota, (612)-626-6743,  zier0034 at umn dot edu 

If you have any questions or concerns regarding this study and would like to talk to someone other than the researcher(s), you are encouraged to contact the Research Subjects’ Advocate Line, D528 Mayo, 420 Delaware St. Southeast, Minneapolis, Minnesota 55455; (612) 625-1650. 

Statement of Consent:

I have read the above information. I have asked questions and have received answers. Completing the on-line survey will imply your consent.  If you consent to the study, please click on the link to begin the survey.  

Heather Zierhut, M.S., C.G.C.

Certified Genetic Counselor

University of Minnesota Bone Marrow Transplantation Program

MMC 484, 420 Delaware St. SE

Minneapolis, MN 55455

Phone: (612)-626-6743

Fax: (612)-626-2815″

The 2nd Meeting of the International FA Gene Therapy Working Group was held at the FARF 23rd Annual Scientific Symposium in Barcelona on 20th October, 2011 with the meeting co-sponsored by Fanconi Hope, FARF,  and the Spanish group, the Centre for Biomedical Network Research on Rare Diseases (CIBERER). The meeting was again ably chaired by Prof Jakub Tolar of the University of Minnesota.

The following is a synopsis of Professor Tolar’s summary of the proceedings of the meeting as presented at the conclusion of the Working Group Meeting and in the full FARF Research Symposium the following day. (Text approved by Prof Tolar).

The progress made through the activities of the International FA Gene Therapy Working Group has caused an acceleration in the movement from the concept to the reality of world scale collaborative clinical gene therapy trials for Fanconi Anaemia.

In the first meeting the best intellectuals & experts in FA were brought to the table to seek common ground in efforts to accelerate the transition from gene therapy research into clinical trials on FA patients.

Without collaborative efforts there will be flashes of brilliance with nothing practical coming out of them.  People have realised that nobody is smart enough to do this alone and there is significant, even exponential value in combining forces.

Through the agreements reached within the Working Group, all the links in the chain and all the building blocks were put in place and care was taken to ensure that this would produce interpretable readout to be shared amongst the community.

In this second meeting, the group were able to move this process forwards, demonstrating that the first coordinated GT trials will be starting in the very near future.

The group is now looking to the second generation of FA GT trials, ensuring that the necessary funding mechanisms are identified and in place.

For affected families, for whom gene therapy has held promise for the last 20 to 25 years but failed to deliver, we can now say that the gene therapy community is close to answering this with solid action, with a system that is not going to fail.

The collaborative activities of the International FA Gene Therapy Working Group have now moved us into a new era and the challenge to all is to move to something genuinely useful to the patient.

more

Congratulations to FARF on the publication of the 50th edition of their Family Newsletter.

Available to download from the FARF website here

You can now view Sasha Gillespie and Charley Webb’s interview with Phillip Schofield and Holly Willoughby online. Thanks again Sasha for raising the profile of Fanconi Anaemia in the UK.

And BBC Ulster was so impressed with Sasha’s performance on ITV that she is now being interviewed on BBC Radio’s Good Morning Ulster on Monday 24th October between 6.30 and 9.30am.

If you have a child between 4 and 10 with an illness/condition such as Fanconi Anaemia, Johanna Reed of University College London would like to invite you to participate in her Study on Children’s Quality of Life Measurement.

It has been shown by lots of research that given the same set of circumstances a child will give different interpretations of their quality of life than that of their parent/carer. A Department of Health report identified a need for a quality of life measure, self scored (ie by the child). They have developed a novel way of doing this using an interactive computer ‘game’  called e-SILCWORM which children love filling in. They hope that e-SILCWORM will help medical and other allied health professionals to understand more about the effect of long term medical treatment for young children and therefore contribute towards their better care as well as providing useful feedback to parents. SILCWORM stands for Satisfaction In Life for Children With Own Report Measures.

 The project has ethics approval from University College London (UCL). 

Read more about the Quality of Life Study and how you can participate here