UK and Ireland Fanconi Anaemia Clinicians/Family Meeting.
The first UK and Irish FA combined family and clinicians meeting, organised by Fanconi Hope was held in the grounds of Chatsworth House, the ancestral home of our patron, the Duchess of Devonshire. The first day’s meeting was held in the farmyard/ adventure playground, which was perfect for entertaining the children and provided an informal setting for the meeting.
16 families from all over the British Isles attended and the patients ranged in age from 3 to 23. A number of UK Clinicians with an interest in FA attended, as well as invited speakers from Germany Spain and the UK. It was wonderful to have the opportunity for family members to talk to these interested professionals over a cup of tea. We also welcomed Marie Pierre and Christophe Bichet and Ralf Dietrich, representing the French and German FA Family Groups respectively. In total around 60 specialists, parents and children attended.
Workshops were set up throughout the room where families were then given the opportunity to talk to nutritionists or have help in interpreting some of the medical terms and jargon that relate to the condition. In addition a representative from the charity Contact-a-Family was there to offer advice on who to contact regarding the practical difficulties of having an ill child and information on the range of counselling services.
An impressive line-up of speakers followed a buffet lunch. Dr. Beki James (Genetics and Epidemiology unit, University of York) discussed the progress being made in the U.K. towards a registry of all UK Fanconi patients, (the UKIFAR). She explained the importance of this in facilitating future research as well as maintaining consistent standards of care across the UK.
Dr. Holger Tönnies (Institut fur Humangenetik, Universitatsklinikum Schleswig-Holsten, Kiel, Germany) explained in detail the progress being made in the chromosomal analysis of blood and bone marrow and discussed its usefulness to clinicians and advantages to patients.
Ms. Evelyn Ward (Paediatric Dietician, St. James’ Hospital, Leeds) gave details of the dietary difficulties Fanconi patients experience along with some practical advice. An interesting discussion took place with a complementary medicine nutritionist on the possible advantages of using dietary supplements.
The last speaker of the afternoon was Dr. Juan Beuren (Hematopoiesis and Gene Therapy Division, CIEMAT, Madrid Spain) He gave us a fascinating insight into the current gene therapy research as applied to FA and discussed future possibilities.
Meanwhile, the children and a few adults enjoyed the animal handling session- and no doubt in those families the demand for guinea pigs in all households will have increased. Later they enjoyed a bumpy ride on a tractor and trailer around the estate where the saw deer and some of the beautiful sculptures that adorn the extensive grounds. The children were given the chance to try milking which was “very hard”. When they decided on a change of scene they had a chance to explore the exciting adventure playground and play in the huge sandpit.
After a short break the meeting reconvened in a local award winning restaurant. The cheerful staff didn’t seem to mind small children running around or the art workshop set up to amuse the children. The last presentation of the day was given by Prof. Adrian Thrasher (Paediatric Immunologist, Great Ormond Street, London). He gave families and clinicians an insight into the challenges in setting up and participating in gene therapy trials.
The following day an informal meeting was held to discuss the previous day’s events, to reflect upon the progress the charity has made in its first year and consider future plans. The meeting ended with an inspirational talk from Paul Carruthers, an FA supporter who had just completed a cycle ride from Lands End to John O’Groats, a distance of almost 900 miles, raising a magnificent £2000 for the Fanconi Hope Charity.
We were also able to offer FA patients the chance to take part in a research programme screening for mouth cancer run by Eunike Velleuer with the help of Ralf Dietrich.
We received lots of positive feedback from both families and clinician and the general consensus was that it was a huge success.
And finally a selection of quotes from the feedback forms received:
“Overall, very informative.”
“It gave me enthusiasm and hope in the future for FA sufferers.”
“Good to have a balance of serious informative events and relaxing chat.”
“Great venue for kids, and the people all mixed well.”
“Ideal venue to keep the kids entertained and a million miles away from having them endure another hospital visit in order for us to find out more”
UK and Ireland Fanconi Anaemia Clinicians/Family Meeting.
The first UK and Irish FA combined family and clinicians meeting, organised by Fanconi Hope was held in the grounds of Chatsworth House, the ancestral home of our patron, the Duchess of Devonshire. The first day’s meeting was held in the farmyard/ adventure playground, which was perfect for entertaining the children and provided an informal setting for the meeting.
16 families from all over the British Isles attended and the patients ranged in age from 3 to 23. A number of UK Clinicians with an interest in FA attended, as well as invited speakers from Germany Spain and the UK. It was wonderful to have the opportunity for family members to talk to these interested professionals over a cup of tea. We also welcomed Marie Pierre and Christophe Bichet and Ralf Dietrich, representing the French and German FA Family Groups respectively. In total around 60 specialists, parents and children attended.
Workshops were set up throughout the room where families were then given the opportunity to talk to nutritionists or have help in interpreting some of the medical terms and jargon that relate to the condition. In addition a representative from the charity Contact-a-Family was there to offer advice on who to contact regarding the practical difficulties of having an ill child and information on the range of counselling services.
An impressive line-up of speakers followed a buffet lunch. Dr. Beki James (Genetics and Epidemiology unit, University of York) discussed the progress being made in the U.K. towards a registry of all UK Fanconi patients, (the UKIFAR). She explained the importance of this in facilitating future research as well as maintaining consistent standards of care across the UK.
Dr. Holger Tönnies (Institut fur Humangenetik, Universitatsklinikum Schleswig-Holsten, Kiel, Germany) explained in detail the progress being made in the chromosomal analysis of blood and bone marrow and discussed its usefulness to clinicians and advantages to patients.
Ms. Evelyn Ward (Paediatric Dietician, St. James’ Hospital, Leeds) gave details of the dietary difficulties Fanconi patients experience along with some practical advice. An interesting discussion took place with a complementary medicine nutritionist on the possible advantages of using dietary supplements.
The last speaker of the afternoon was Dr. Juan Beuren (Hematopoiesis and Gene Therapy Division, CIEMAT, Madrid Spain) He gave us a fascinating insight into the current gene therapy research as applied to FA and discussed future possibilities.
Meanwhile, the children and a few adults enjoyed the animal handling session- and no doubt in those families the demand for guinea pigs in all households will have increased. Later they enjoyed a bumpy ride on a tractor and trailer around the estate where the saw deer and some of the beautiful sculptures that adorn the extensive grounds. The children were given the chance to try milking which was “very hard”. When they decided on a change of scene they had a chance to explore the exciting adventure playground and play in the huge sandpit.
After a short break the meeting reconvened in a local award winning restaurant. The cheerful staff didn’t seem to mind small children running around or the art workshop set up to amuse the children. The last presentation of the day was given by Prof. Adrian Thrasher (Paediatric Immunologist, Great Ormond Street, London). He gave families and clinicians an insight into the challenges in setting up and participating in gene therapy trials.
The following day an informal meeting was held to discuss the previous day’s events, to reflect upon the progress the charity has made in its first year and consider future plans. The meeting ended with an inspirational talk from Paul Carruthers, an FA supporter who had just completed a cycle ride from Lands End to John O’Groats, a distance of almost 900 miles, raising a magnificent £2000 for the Fanconi Hope Charity.
We were also able to offer FA patients the chance to take part in a research programme screening for mouth cancer run by Eunike Velleuer with the help of Ralf Dietrich.
We received lots of positive feedback from both families and clinician and the general consensus was that it was a huge success.
And finally a selection of quotes from the feedback forms received:
“Overall, very informative.”
“It gave me enthusiasm and hope in the future for FA sufferers.”
“Good to have a balance of serious informative events and relaxing chat.”
“Great venue for kids, and the people all mixed well.”
“Ideal venue to keep the kids entertained and a million miles away from having them endure another hospital visit in order for us to find out more”
Some pictures are available to view
here.
Permission is currently being sought to make the presentation material available for download from the website.
