pellen
I’m 40 years old and if I’m in front of you
today it’s not a martin martin
and translator to tell you everything I
called them in January for him
wish the happy new year and I have him
asked martine what are you
translate right now and she tells me I
translate conference guides
they kill know I have to you
to confess I take them is not at all
they explained to me the principle it’s
simple is to share an idea that
We care about you
so if I am before you today
it’s to introduce you to a subject that
Dear to my heart
I have cystic fibrosis in my family
two of my aunts died of
this disease one in 1953 the other in
1983 and very early I asked myself
why 9
is it a coincidence is this a coincidence
and then are my descendants
will be ready destined to undergo this
sickness that’s the subject of my talk
today the mucovisidosis chance
coincidence or predestination
we will start with the chance I will
talk about cystic fibrosis but I
could you talk about any other any
other illness
sickle cell disease charcot disease
marie tooth there hemochromatosis
matter I’m talking to you about the
cystic fibrosis because that’s what I
know what is prophecy
doses the term is composed of two words
viscous lucus street is mucus
viscous that accumulates in the body
my first tent died in 1953
she was skinny but she had
the bloated belly alone
she had diarrhea and
fever
she left at 16 months
we did not know the disease yet
whooping cough said the doctor
my second time you were born in 1966
symptoms were the same all
diarrhea and and skinny belly
bloated with fever
but meanwhile the searches had
advanced we had seen naming the disease the
describe an association of patients
it was even finally reunited Thursday of
sick but of parents since
life expectancy was 7 years a
health center had opened at the
tip of Brittany to roscoff for
take charge of the males
suffering from this disease my second
joël time was fast
headed to the center of perharidy to
roscoff
he was tested the test of the
sweat his sweat was very very salty
the diagnosis fell
luc to the visitors in 1989 there was a
revolution we found the gene coding
for cystic fibrosis
it was a wave of hope in
families we saw what it was that
gene
in fact they served to preserve
the balance between water and salt in
cells
but if this gene is mutated it works
not well there is an imbalance
moisturizing lmcu mucosa
accumulate and then there hello the
infections the blockage of digestion and
so this is the disease has been described
the gene was found but we are
almost 30 years later and we heal
still not cystic fibrosis
let’s not be pessimistic in 2002 since
2002 all children born in
france are tested to find out if they
are sick or not
if they are sick they are led
very quickly to a health center
specialized to take care of them
and there the battle begins every
days and must take
pancreatic enzyme drugs
antibiotics vitamins
they must make the physio world
Rennes this mucus
it’s a daily battle in more
it is not physically see the
cystic fibrosis
but with this early support
this daily battle and well the
sick have gained hope of
life
today a child who is born
today in France his hope of
life is 40 so that’s it quickly
for cystic fibrosis
I am a healthy carrier of
cystic fibrosis
is it a chance no I will you
explain how this gene came
until you like them
dragibus what I did a
presentation based on dragibus for
explain how cystic fibrosis
happened until – originally in
my family in the dragibus family there
had that yellow dragibus
and then there is a mutation
now there are two-color dragibus
this is the case of my grandparents they
are both healthy carriers of a
cystic fibrosis gene
here is what happens at each
children’s design each the dad and
the mom gives a part
of its genetic heritage every
two so the first in the first case
the child he is not wearing because he has
received a non-mutated gene of each of
his parents take a second case is
a third his two children received
a gene mutated from their parents they are
healthy carriers and in the fourth
quarter
orange dragibus is sick he has received
two mutated genes from each of its
Parents of a jet and purpose of each of
his parents my grandparents had
five children the first dragibus
orange the second he died
before doing test 3 and 4
two-color dragibus and the fifth
sick orange dragibus this is the case
from my grandparents
this lottery is with each pregnancy
with each conception that it
renew let’s take the case of my parents
my mother and non- carriers but they do not
know it off
she lived her pregnancies in the
anxiety to give birth to a child
sick but she was not a carrier
she could not transmit the gene
mutated if my dad is healthy carrier but
did not know he just knew
that he had some remains of the probabilities
to have a sick child he transmitted
he was a healthy carrier and transmitted it
a part
of his genetic inheritance me I
be part of the 2 dragibus right
since the game supports scene
my parents had three children
we are three carriers it’s the lottery
with every purchase design in France
there are seven thousand patients with
cystic fibrosis and we are about 2
millions of healthy carriers I have the
luck I dry it
most do not know it me I
know it’s not by chance that I
have seen I know he’s doing this gene done
part of my family history
but the question is is it a
coincidence
is it a coincidence if my greats
parents are both carriers
healthy and if they had two children
sick in France there is a birth
of sick children for 4900 birth in
bretagne there was a birth
of sick children about three
thousand births and in Brittany you
give in which department
the incidence is the most
it’s the finistère a birth
of sick children on 1200 birth and
in the finistère
a study had been done she
to reach between 1946 and 1972
a birth of sick children on 377
birth my grand parents are born
in the canton of bertincourt and bd
funny coincidence 1
I did not want to stop there I know I
support that’s part of my story
domestic
there are still two strongly
affect for me to have ancestors
to wear but I wanted to go further
I interviewed doctors from
geneticists to know where were coming from
these mutations
no one answered me so I
decided to lead myself blanquette
and I enrolled in PhD I’m going
not tell you ten years of research
in five minutes I’m just going to
to say that I went back a lot a lot
of a genealogy of affected patients
cystic fibrosis
for which result
on this map we can see where the
ancestors of the carriers of a mutation
very common in brittany on this
second card
we see where the signs live to be
bearer of another mutation of the
cystic fibrosis and on this third
map
we see where the ancestors live
third invitation we see that in
going up the family trees of the
sick until the 16th century we see that
according to the mutations there is a
differential distribution of patients
and their ancestors by mutation
okay very well but I knew
this card I knew that
bretons and migration tissues
ie Carole third century
in brittany there was almost
person and between the third and the
6th century
there have been very large migrations my
idea is that cystic fibrosis
would have come with the migrants and that’s
an absurd struggle of these mutations in
their luggage
and that’s surely what happened
because the mutation that we find
especially in the west of the department
in the northwest
we find it a lot in ireland
mutation that funny found in
the south of brittany this mutation on
only found it in bigouden country and
in Wales there is surely a
link between these two populations
similarly between English Cornwall
and Armorican Cornish so this
what happened is that between the
third is the seventh century
there have been major migrations
are made by clans and the migrants get
are laid and stayed there for
centuries and centuries without it
there has been genetic mixing
I hear you from here consanguinity
you will tell me no no no I will you
stop mutations right away
were so present in the
population that by lack of brewing
genetic
healthy carriers have developed
As to the
generation and chiefdoms gibus
orange also by a very big
geographical stability is not a
mix between these migrant clans I
will show you a map here lived
a couple generations ago this eleven
couple he has more than 100 patients in his
descendants and here is where lived his
descendants generation by
generation for what I have in my
database
so to generation 6 5 4 3 2 1
until now we see we are
there in the presence of stability
geographical location that there was no
genetic mixing and this stability
geographical consequence means that
the two-color dragibus is gaining ground
so sailboat coincidences are
very many but the third
issue that what can we
make
what can we do to stop
that’s what we really are
predestined to undergo it
in 1996 was born in Paris unfortunately she
had a bloated stomach sweat it
the wings and and skinny she
coughed the vein and diarrhea the
diagnosis very quickly fell a co
visitor if you followed well
his dad and mom are both
carriers myself I am a carrier
because not going to wear it but not mom
my grandmother is carrying my back
grandfather and carry my back
great grandfather too
and this great great grandfather he
has a sister who is a girl who has a
girl who has a son who is the dad of
the little eller born in Paris in 1996
when I leave, I told myself it’s
not possible it is not possible
are we going to suffer this
predestination for further
years of centuries and centuries
we must stop this chain
transmit from generation to
generation
today there is no medicine
modify the mutated gene from the
cystic fibrosis
but there is a screening is carrier
healthy it costs about 100 euros
hundreds of euros
when we have a sick person in the family is
reimbursed in the safety of me I
do this test I am very happy
when I got married I told my
husband you do it too and he did it said
non- carriers
but if he had done it if he was
carrier we could have made choices
enlightened life we could have decided to
to give birth to a sick child or not
we do not know when I
did we have the choice I do not say
you need more orange dragibus
it’s because I mean but I
mean that it’s important to be able to
make informed choices
I’m happy to have done this
choice
and when I ask the parents of a
sick child their situation they me
all say if we had known if we had
know me I have three children they are not
ill
if you followed well since my husband
is not a carrier and that led to the
birth they were tracked they
are not sick
I do not know if they are healthy carriers
apples they can do the test
when they turn 18 but they have the
chance to know we have this disease
in the family and that they will be able to do
this test there how much are you in the
room a hundred and ben there are six
of you who are healthy carriers I
Cystic fibrosis
I want my kids their cousins
your children their cousins can do
the cystic fibrosis test
the screening test is healthy carrier
and good stuffs charcot marie disease
sickle cell anemia
all these barbaric names hides a disease
a disease that presents in our
genetic heritage but in ten
fifteen twenty years she will still be there
we must finish with predestination
to conclude I will tell you that
solution exists
this is the test of the screenings of
healthy carriers we healthy carriers
new parents that is transmitted the
disease
are we who can stop
how to do it is simple if you have
a sick person in your very family
far away even very far away you
have seen him well he must take
go to chu with a consultant
genetic to do the test
it’s as simple as that
knowledge is always better than
ignorance is the idea that I wanted
get ahead of you today and
it’s weird to remind you of the book that
martin translated and ben my conclusion
it completely joins that of
chris anderson
our future belongs to us no matter
what life has given us we can
shape it and that can change the life
others also before you leave
I will tell you the last things
at haribo
they stopped producing
orange dragibus
it’s a sign
[Applause]
”
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