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4th
Annual FAP Gene Family/Information Day Report
We are pleased to report
that the event was another very successful day.
Numbers beforehand indicated around 46 would
be attending but we expected less allowing for
the unpredictable nature of FAP. So in the end
38 found it a most interesting and rewarding
place to be given the unpredictable weather
forecast.
Mick welcomed both old and
new visitors and also gave a brief over view
of the day. Several had asked how Bonnie a young
lady who many had met last year at Swarkestone
was. Unfortunately Bonnie passed away shortly
afterwards through secondary liver cancer but
she will always be remembered for her vitality
and hopes for raising awareness of FAP. Parts
of a letter from Bonnie's mum were read out
including her wish that everyone would enjoy
a day which they had found so rewarding the
year before.
Apologies were sent by Krystle
Konteh of The Genetic Interest Group due to
family circumstances and Dr Alison Meltcalfe
who was away but sent a report on The Family
Talk Project. Mick then introduced John Roberts
FAP Gene's Chairman for his Introduction to
FAP talk.
For some reason we have always
been unable to attract a speaker locally for
this talk. However it is understood that FAP
is a rare condition and whereas several local
Health Professionals deal with patients and
Families with FAP it is usually only for the
immediate problem and they do not need to know
all the intricacies of the human plumbing world
as affected by FAP.
John formed his talk around
what we now call The Verona Article (A 4,000
word article written by John and Mick on The
Role of an FAP Support Group for The Rosa Gallo
Foundation in Italy and printed in a Springer
Publication in December 2008). The two main
operations were shown with diagrams explaining
what was and wasn't removed in each case. Also
included was a bit of Family History and how
rare hepatoblastoma, a form of childhood liver
cancer was in those with FAP. A warm response
was given to Johns talk and questions seemed
to reflect mostly on the frequency of bowel
motions with the different operations. More
of that later.
With a 30 minute space Mick
then gave an update on The Family Talk Project
from Dr Alison Metcalfe at Birmingham University.
All the results are in but until they are accepted
and published through the appropriate authorities
little could be said about them. However Alison
thanked those who had contacted her to take
part following her talk in 2008. A total of
33 families including seven with FAP were included
in the study. Alison has also expressed an interest
in seeing everyone at the proposed Chat Day
in September 2009.
Details of the Facilitating
Network Project from Krystle Konteh of The Genetic
Interest Group were given and Mick impressed
that this was a three year project and FAP Gene
were delighted to be one of the seven groups
chosen. Krystle is also interested in the Chat
Day. Mick mentioned a previous project from
GIG which looked at Insurance for Rare Diseases
and hoped that this would eventually benefit
all 130 member groups of GIG.
Then it was the turn of Jo
to give a really interesting talk on her family
and how FAP had involved them. 20 years ago
Jo's mom had died at the age of 34 leaving seven
children aged between 5 and 15. Since then several
of the family have been diagnosed with FAP and
had surgery. One has had problems with a Desmoid
Tumour and the lack of knowledge of FAP is shown
in the following taken from her talk
"What really does stick
in my head is taking her to A&E a few weeks
after removal of her Desmoid Tumour complete
with stomach pains.
The Triage Nurse asked for PMH. The inevitable…'Whats
FAP?' Another Nurse…the same.
The Dr…the same….all never heard of
it…yet the Dr decided these stomach pains
were unrelated and she was sent home with the
advice 'take painkillers'. Luckily it was noting
to do with the FAP…but how was this diagnosed???
I have more respect for the
two consultants that removed the Desmoid that
didn't mind telling us that they had to do some
research prior to the op and it was completely
new to them".
We have always supported projects
around the UK involving patients with FAP. This
year was the turn of 'Sculpting a Voice for
Genetic Disorders'. Julia Thomas is an artist
with a research background in bioscience. After
having gone back to college to further her studies
in Art & Design, she now wants to combine
the skills and knowledge of both her scientific
and artistic backgrounds. In particular, her
mission is to work with health related issues
and health/science organisations to inspire
artwork that will help to raise awareness for
those affected.
She told of the talks she had
with those with genetic disorders and how she
then expressed those thoughts in sculpture.
Several images were shown and those present
were invited to chat with Julia afterwards about
helping with this very intriguing project.
Lunchtime was when we all enjoyed
the buffet supplied by Claire at the Sailing
Club. Jacket potatoes and the famed steamed
pudding with custard. When in Verona giving
a talk Mick mentioned that the Family Day was
worth attending if only for these puddings.
Even translated into Italian it raised quite
a peal of laughter from the audience.
On the more serious side this
was the time for CHAT and many views exchanged
about the many variances in how FAP can affect
individuals. That it lasted almost 25 minutes
longer than planned didn't really matter for
our planning is always quite loose to say the
least.
During the afternoon we had
two speakers from St. Mark's FAP Registry. Kay
Neale the registry manager gave a talk about
frequently asked FAP questions and Dr. Ash Sinha
a research Fellow, who is conducting research
on Desmoid Tumours in patients with FAP.
This was Kay's third time at
Swarkestone and she still makes the genetics
of FAP sound interesting enough top keep everyone's
attention. There were quite a few smiles when
she explained how gene are like a recipe and
how a fault in the gene of a single letter can
make such a change. The case in question was
a recipe for a Ham Sandwich. The letter changed
was the H in Ham to a J. Hence a very surprised
customer with a Jam Sandwich.
Dr Ash Sinha gave a history
of the development of the FAP registry from
its beginning in 1924 and how the knowledge
of FAP has increased. The positive effect of
genetic screening, so that surgery can be used
on members of a family with FAP at the appropriate
time has greatly reduced the number proceeding
to develop bowel cancer. He also spoke about
research into the treatment of desmoid tumours
which are non-cancerous but at the moment the
most difficult of the extra colonic lesions
to deal with. They only affect around 20% of
those with FAP and in only 2% of those do they
cause serious problems. For those in this 2%
with the more aggressive form it could be comforting
to know the problem is recognised and a solution
being looked for.
So after five hours it was
time for those thus inclined to sample a ride
on the rescue boats and others to say their
farewells hopefully loaded with information
and a better knowledge of this rare condition.
Mick had mentioned about the
lack of a national registry and how it seems
the Regional Genetic Centres always seem to
quote the number of families with FAP, not individual
numbers. He explained this was possibly because
family members are treated by their nearest
Genetic Centre often in other parts of the UK
and numbers diagnosed not passed back to the
original source.
John was asked about the childhood
liver cancer, hepatoblastoma, which his son
George was found to have. He explained it was
very rare and might affect a child up to the
age of five. It can be found by ultrasound scanning
but although this has been asked about for all
under 5's it is not seen as a viable approach
considering the numbers it would find.
One of the main discussions
during the day was the frequency of toilet visits.
It was amazing that people who had never met
before were willing to chat openly about what
is to others an almost taboo subject. It actually
varied from four to twenty four times a day
in those present. This was despite trying different
diets and medicines. Most had keys for disabled
toilets 'RADAR KEYS' and cards stating their
need to use toilets in an emergency due to bowel
problems.
Another point of interest was
not absorbing coated tablets due to the removal
of the colon. This seemed too often to be not
understood by some GP's but hopefully will improve.
Finally a mention of tiredness and the vitamin
B12. Several had regular injections of B12 and
found a great improvement in concentration and
energy afterwards. They are usually given every
12 weeks and a simple blood test shows if there
is any deficiency.
All the speakers were presented
with book tokens as a thank you for giving their
time and all agreed that Swarkestone 2009 was
an outstanding success whether a patient, relative,
friend or health professional.
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