Oh,
yeah,
I'm Doctor Kirkman.
Well,
as you know,
the purpose of our getting together this afternoon is to
discuss the nature of the disease which
Chris has and to talk a
little bit about the chance that it might occur
again in the family.
Um,
what is your understanding?
Mrs Rutherford?
And the problem that Chris has?
Well,
I don't,
I don't really know too much about it.
He seemed perfectly well.
Um,
he came home from the hospital fine and
about a month old,
he developed,
um,
some coughing and he started turning blue and
I took him to doctor Andrews and
he said that he thought he had pneumonia
and,
um,
then he was referred up here to
have better care because he became
so sick and I don't really
know too much.
Let's see,
Mr Rutherford.
Did Dr Andrews give you a feeling as to as to
how sick Chris really was.
Well,
I understand pneumonia is very serious and this is about as
much as I,
as I know right now of his condition.
Yeah,
we're very worried about it.
Well,
he's done rather poorly in our intensive
care nursery and the
residents down there.
And the attending physician do feel that he has
very severe pneumonia.
Uh,
and we're really quite worried about him.
Uh,
the condition which he has is
called cystic fibrosis.
Had either of you heard about that?
No,
no.
Could you tell us?
Well,
it's,
uh,
a very serious disease.
It is hereditary is capable of
occurring again in the family and
causes the lungs of a child to be rather
susceptible to repeated attacks of
pneumonia and
also interferes with the normal digestion.
This condition causes the secretion of
ausin of very high viscosity.
And if Chris is able to pull through
this present hospitalization,
which is a little bit
unlikely,
he will be prone to repeated attacks of pneumonia
and to some extent to rather poor
nutrition and growth failure.
There are some things that can be done for it,
but it is a condition that often limits
life and can lead to,
to death in adolescence or early adulthood.
If not sooner.
You mean you don't think that Chris will
get out of the hospital?
Well,
he might,
he's very sick right now.
But if he does,
there's a fair chance he'll be in the hospital over and over
again.
This condition is capable,
as I mentioned of causing repeated
attacks of pneumonia.
But do you think that he would be able to survive?
I don't know he's
very precarious right now.
We'll just have to see we're doing the best we can.
I do need to get a
little information on your family.
We do not have the records from
doctor Andrews as to what was
happening with Chris earlier.
He's a month old now,
I believe.
And we'll have to write Doctor Andrews and get
those records.
Did you come prepared with any sort of
family information?
I guess we didn't warn you that we'd be asking you quite a bit about your
family.
Let's start with Mrs Rutherford.
Let's see,
Chris is your only child.
You have,
you had any miscarriages?
And I have two younger brothers.
Let's see.
Are either of them married?
No,
they're both single.
All right.
Um,
and I understand that,
uh,
this child is in good health and has not been
having any coughing or pneumonia.
Do you know of any relatives or anyone in the family
who has had Children with repeated attacks of
pneumonia?
I'm not aware of in trouble with absorption
of food,
poor growth.
You haven't heard the word cystic fibrosis
used in connection with,
with any of your relatives.
Do the two of you feel that you are related by
blood in any way that you know of or you distant
conceivable?
Well,
this condition,
oh,
here's one that's hereditary
and is determined by genes
present that are
capable of causing the child to
have mucin of high viscosity that is
very sticky mucus,
which plugs up the bronchial
tubes.
It seems to cause the repeated attacks of pneumonia,
which they have this very
sticky,
mucus can also plug up the pancreas.
So the pancreas doesn't function properly.
Uh Had you noticed that Chris was passing
stools of unusual odor or?
Well,
this is my first baby.
I don't really know.
Um,
but everything seemed normal to me.
Had you noticed that he tasted salty when you kissed him,
kissed him?
It is true that,
uh,
in addition to having uh,
stools that are very strong smelling due to the
pancreatic insufficiency that
these Children are prone to
sweat.
A type of sweat with a very high salt
concentration.
And some mothers notice this,
that when they kiss their baby,
the baby actually does taste salty.
But more importantly,
this will mean that if Chris can survive
his present hospitalization,
that he will be uh needing to
be on extra salt during hot weather.
Do you have air conditioning at your home in Wilmington or?
Yes,
we do.
So this may not be quite so much a problem in the summer.
Well,
it is important to realize that this
is a,
a disease capable of affecting a child in
this way and that it is inherited.
We know that the
risk for your future
Children is 25%.
Each of your future Children would
run about a 25% or one in four
risk being similarly
affected.
The disease is unlikely to strike elsewhere in
the family
you discussed uh
how many Children you were planning to have or?
Well,
we had But now,
I guess we should have second thoughts about the number.
Uh Is there any way to find out
if,
uh,
once my wife is pregnant,
if the child is affected,
not at the present time,
we can do this for certain of the
hereditary problem.
The chromosome abnormalities,
one form of which causes the condition we call
down syndrome or Mongolism can
be diagnosed in the unborn fetus fairly
early in the pregnancy.
We can carry out pre
natal or antenatal diagnosis as we call it
in early pregnancy for certain of the hereditary
chemical abnormalities.
But uh we can't do this at the present
time for cystic fibrosis.
Would you be interested in,
in having such tests done if they became a
uh Mrs Rutherford,
what is your feeling about abortion?
If such a test were possible and reveal that the
fetus was effective?
Well,
I,
I don't know,
this is all new to me.
I'm at this point,
I'm not sure I want to try to have any more kids
if they are gonna be sick like this.
II,
I mean,
I'm just not prepared
maybe later.
I can think about it.
Well,
this abnormal gene is fairly
prevalent.
We feel that about 5%
of the population
carries this abnormal gene and both of you
carry this hereditary tendency
and this is what leaves each of your future
Children at a one in four risk
for having a problem similar to Chris.
Now you have
several possibilities.
You could pursue this being your only child
and the distinct possibility that Chris
may not survive his present very severe attack
of pneumonia.
You may wish to just run the one in
four or 25% risk with
another pregnancy.
As you may know,
babies are very difficult to obtain
by adoption.
Now,
with stronger family planning and
the more liberalized abortion laws,
fewer and fewer babies are being put up for
adoption.
So it might not be wise to count
on the definite possibility of
adopting a baby.
You could avoid further
pregnancies talking with doctor Andrews in
Wilmington as to what measures you might
take even including sterilization.
Um But at the present time,
we have no way of uh of
offering antenatal diagnosis or any way of telling you with
these pregnancy.
Do you think there's any hope in the future of being able to
diagnose?
Well,
we just can't say yet.
We don't understand what the basic nature of cystic
fibrosis is.
As I say,
we,
we feel that one of the serious problems
is this use in a very high viscosity which
causes repeated pneumonia and
because of that and the
disturbance of pancreatic function,
it tends to cause a growth failure along with it.
You don't think there's any chance that
my nephew will be sick too.
No,
I think it's a little bit unlikely.
It might be wise to have
him checked by uh your
brother's position there and see
how he's doing,
but it's rather unlikely we're mainly concerned about your
future Children and the one in four risks
that they would be affected.
Well,
if you have any further questions,
please don't hesitate to call or write
and we'll be sending doctor
Andrews a very brief report to the effect
that we met and discussed this matter.
And I hope you are able to find that Chris
is doing better this week and we sure hope so.
Nice to admit to you.
Thank you,
doctor.
Hello.
Uh,
you're the other friends.
How are you?
Hello?
Uh,
my name is Helen Henshaw and I'm
Doctor Kirkman's assistant and
he has been detained with,
with some patients and um,
he is not going to be able to be here right away.
He'll be here in just a minute.
So he asked me to come in and
see that everything is ok and
see if you have information that I think he
asked you to bring.
I believe he asked you to bring,
um,
information on your family.
Yeah,
we haven't.
Ok.
That's good.
We'll heal along if you can have that ready for him when he
comes,
that'll save him some time.
Did,
um,
I,
he told me that he did receive a letter
from your doctor,
Doctor Andrews in
Wilmington.
And so that will help a great deal in his discussion
with you.
But,
um,
how is your child?
Er,
he is,
I'm sorry to hear that.
Um,
is,
he's,
he's here on the intensive care unit.
Now,
um,
did you drive up this morning from Wilmington?
You did?
That's,
that's a long drive.
Are you planning to stay here in Chapel Hill for a while or?
You,
you aren't going to go home?
Is this causing a problem with the jobs or
family or?
It actually is,
but it's,
we sacrifice it.
It,
main thing is just the shock,
you know,
because the baby was so,
uh I'm sure I'm sure of that.
Have,
have you been informed as to the diagnosis of the
child?
Yeah,
we know it's fibrosis,
um told of its nature,
right?
Ok.
Well,
I'm sure um,
Doctor Putman will be glad to speak to you.
He should be in any time.
Our purpose for gathering this afternoon is to
talk about the possibility that this
problem which Chris has might occur
again in the family.
And I believe you've heard from uh
Doctor Andrews and from the physicians in the intensive
care nursery already.
The diagnosis.
And what is your
understanding of the nature of the disease?
Were they able to go into this with you?
Well,
they did uh,
some,
I,
I'm not sure I still have everything straight,
but they did say that it was cystic
fibrosis and that it
was some sort of
abnormality of the
secretion so that uh
Chris's mucus is
sped up somehow.
It's thicker than it should be
and that this causes his
pancreas to be
abnormal.
I don't know exactly how and for
him not to absorb food
as well and
that he might
be prone to getting pneumonia
like he has.
Now,
did you get the same impression Mr Rutherford as to
the nature of Chris's problem?
Yes,
pretty much so.
And that,
uh,
there's some problem with,
uh,
sweating too much salt out and problems with
dehydration and that they
informed us that,
uh,
if we didn't have our house air conditioned,
that we should just be a big help in the summer.
Provide that uh that he makes it.
What is your feeling as to how sick Chris is?
Now?
He's extremely sick.
I think it's very important that you realize
that in addition to
causing trouble and your baby who is only one month old,
now that this disease can cause
repeated pneumonia,
that these Children can
live and survive on up to
teenage and adulthood.
But at the expense of requiring rather
frequent hospitalization and frequent
visits to the physician,
things can be done if Chris can pull through this
very severe attack of pneumonia,
which he has now,
we can offer him a special
diet which will help him absorb
his nourishment much better.
Despite his problem with the pancreas,
he can be protected to a considerable extent
from pneumonia by antibiotics.
And there are postural drainage
exercises and other
techniques for helping to diminish the
number of infections he has.
But I want you to realize that the
picture you're seeing in Chris.
Now at one month of age is
not the typical picture of
cystic fibrosis.
It is not a disease which simply results in an
attack of pneumonia and death.
At one month of age,
Chris has been unfortunate in having an unusually
severe attack of pneumonia
very early but more often than not,
these Children do go on
living up into late childhood at
least,
but with repeated attacks of pneumonia.
So I think that needs to be kept in mind
when you're thinking about your
family planning practices and how many Children you
plan to have.
We have quite a bit of information that
Doctor John Andrews sent us.
And of course,
the doctors in the intensive care nursery and
my visit down there indicates
that Chris does have cystic fibrosis.
His sweat test was quite positive as you
know,
and so that we're going to be talking mainly now
about just the
possibility that this could affect someone in the
family again.
Um Let's see,
you have some information on your family already.
Does it come from the family Bible or
mostly from memory from my,
usually there is a,
an old made ant in the family who's the
expert on the family tree and many of our husbands and
wives consult with,
with that aunt.
But now why don't we start uh
with Chris and uh any
other pregnancies that you've had Mrs Rutherford?
No,
Chris is the only one you've had no
miscarriages,
no stillbirths at all.
And let's see,
Mrs Rutherford.
How old are you now?
I'm 23.
And how is your health?
Uh My health is fine
and I have two younger brothers.
Uh David and Martin.
David is 20
and Martin is 15.
And how is David's health?
Fine.
Fine.
So is Mark,
we haven't had to go to the doctor frequently for any problem.
Not at all.
And I understand that,
uh,
neither of your parents was having any problem with the health.
Is that right?
No,
no.
But if you,
if you want to go back farther,
I did have a great uncle who
had bouts with,
with bad lungs.
Ok.
Long way back.
No.
Are there any members of the family?
I haven't shown here who are having problems with their health?
Any signs of premature uh,
deterioration or aging of
mind or kidney or liver
failure?
Well,
my,
my sister in law is having
some kidney trouble now.
This is right.
And her father actually died of
kidney failure.
Oh,
about how old was he when that happened?
He was rather young.
I think about 45.
Oh.
Did you hear anyone say what might have been the problem causing this
kidney trouble in her father?
Failure,
kidney failure?
That's all I ever heard.
They seem to be watching Fran
fairly closely to find out
what exactly,
you know,
whether she's gonna have something severe wrong with him or
not.
The father died at about 45 or in his forties
anyway.
Yeah.
And Fran is 24 now and is beginning to have some
kidney trouble.
Ok.
But in addition to the fact that there were no Children
with repeated attacks of pneumonia or severe
growth failure,
there are no problems with the health of the family that you know,
of other than these,
that we've shown your,
your mother has had diabetes recently,
I believe.
Ok.
Now,
do the two of you feel that you're related in any way by
blood that you know of?
No,
not at all?
No,
absolutely not.
Uh,
does the same last name appear in the
family on either side?
You don't have any Rutherford's on your side of the family
and no Smiths on your side of the family,
are your relatives from the same county?
The same part of actually,
now Lewis is from around
here and I'm from California.
So,
and you know,
of no one in the family who considers it your distant cousins in
some way?
Very good.
Well,
Mrs Rutherford,
uh,
what is your feeling as to how cystic fibrosis
occurred?
Did you have some feeling before you talked with the
doctors in our intensive care nursery as to what might
have been the cause of Chris's problems?
Well,
I actually,
I feel that it's
the disease and I under I
understand the hereditary part
now a little better,
although I don't,
I don't understand why other people
aren't sick too,
but there is some talk in the
family.
I don't think they understand and we've been
getting a little static because,
well,
especially because I worked
well all the way through my seventh
month.
And,
um,
Lewis's mother special thinks that that's,
that,
that's what's wrong.
It would be nice if you could,
you know,
you mentioned something about a letter if you
could put that in the letter for her to say that would
be nice if she doesn't understand such things.
Well,
what about you,
Mr Rutherford?
Do you find members of your wife's family or?
Well,
they,
they're aware that it is
inherited and 11 thing
we'd like to know from you is
since it's never happened before in our
family or ever suspect it happened before in our
family.
Why did it happen?
The service at this point?
Is it just,
it's merely odds.
Yes.
In a way cystic fibrosis
belongs to a very large
group of uh hereditary diseases in
human beings.
About half or two thirds
of the 1000 or more hereditary
problems in men belong to the group
that we call autosomal recessive.
And these are diseases which occur in
the affected child only
if the child receives an abnormal
gene from both parents.
We feel that Chris inherited the
gene from cystic fibrosis from both of you
and that this gene has been present on both
sides of the family for many
generations.
So you shouldn't feel,
don't let any in laws tell you that this is coming from the other
side of the family.
It's coming from both sides of the family and the
gene has been present in more or less hidden form
being carried by people who
have the gene in only a single dose.
Such people are called heterozygote
or said to be heterozygous with cystic
fibrosis.
And each person
who carries a gene has received it from one of his
parents or one of her parents.
So long as the human being receives the
gene for cystic fibrosis from only one parent,
he's free of any symptoms of the disease,
any problems with the disease.
So you shouldn't feel that either of you
is prone to develop
pneumonia or digestive problems or to
have any symptoms of cystic fibrosis whatsoever.
Each of you has received this gene from one
of your parents and only a single dose.
The unfortunate thing about Chris is that
he received this abnormal gene from both of you.
So he has the gene for
hereditary information and double
dose.
No.
Uh this means that
the future Children that you
have are at risk for having cystic fibrosis.
And this is one of the main reasons for
talking this afternoon.
Each of your future Children
runs a one in four chance
of having cystic fibrosis.
Now,
this is not the same as to say that
1/4 of your future Children will have cystic
fibrosis.
It merely means that each child
runs a one in four chance.
Uh We feel that you
Mr Rutherford have half of your reproductive
cells carry the cystic fibrosis gene
and you Mrs Rutherford,
half of your reproductive cells carry the cystic
fibrosis gene.
So it's a 50 50 chance
that the child will receive the abnormal gene from
you.
A 50 50 chance that it will also receive
or will receive the abnormal gene from you Mrs Rutherford.
So the overall chance turns out to be one in
four or 25%.
So if you have another
child,
that child will run
25% risk.
This is the same as if each of you were to toss a
penny out on the top of the table
and the odds that both pennies would come up
tails would be 25%
or one in four.
If you like,
you can look at it as being similar
to using a deck of cards,
shuffling a fresh deck of cars and reaching in and
drawing out one car,
your chance of getting a spade would
be one in four.
Now,
as you know,
in playing cards,
you could draw three cards in a row and they might
all be spades or you could draw three
cards in a row and none of them might
be spades.
Actually,
the deck of cards might need to be reshuffled again after each
drawing.
But that's a rough analogy.
Now,
you shouldn't feel that you have any more bad
genes than the rest of us.
We now feel that the average person
carries about four or five
abnormal genes of this recessive
group.
You carry the gene for cystic fibrosis.
I may carry the gene for a disease.
We call FEIN or PKU,
someone else will carry another gene.
But in essence,
each one of us carries about four or five abnormal
genes.
And,
uh,
I think this can be interpreted to mean that you really
are not carrying any more abnormal genes than the
average person.
And you shouldn't feel that you somehow
have become tainted or
carrying more of a burden than this than other people.
The,
the real thing then is,
is just that Lewis and I
both happen to be carriers
and if,
if,
if either one of us weren't a carrier,
then we wouldn't have this problem.
The reason why more of
our Children aren't affected with these recessive diseases
is that usually the husband and
wife do not match up for the same abnormal gene.
Well,
this one for risk is rather high
and genetic counseling,
we would call that a rather high risk.
We feel the average couple runs about a 2%
chance of having a child with a serious disease
and a 25% chance is
considerably higher than that
for having the average couple having a child with a
birth defect or a genetic problem.
And you may wish to take this into consideration in
your family.
Planning.
Now,
you can look at this from the more optimistic point of view,
the chance that your next child will not have cystic
fibrosis is 75%.
It's very important though,
for you to realize that this disease does not just
manifest itself as pneumonia in the
first month of life.
Cystic fibrosis can go on
giving repeated attacks of pneumonia
throughout life.
And if Chris,
if Chris,
his life is lost during this stay in the intensive
care nursery,
you should realize that the usual
way in which Children have cystic fibrosis
is to live beyond one month of age,
perhaps up into teenage
or being even a young adult.
But at the expense of repeated trips to the
hospital and to the doctor's office and
very diligent care and medical
support.
So it's a very expensive disease and I think you
need to think of that also and planning to
have other Children.
Uh You have several options.
One is to avoid having any
more Children,
including one of you
having yourself sterilized.
I do not recommend that for a couple who
has a child with cystic fibrosis,
we have the feeling that with cystic
fibrosis,
sickle cell disease and certain other
hereditary diseases that a technique will
become available.
Quite likely in the next 4 to 5 years.
And let's see,
you're 23 years old.
Now,
Mrs Rutherford,
I think it's quite likely that within 4 to 5
years,
we will have a way of telling a
woman who is pregnant,
whether or not her fetus has cystic
fibrosis.
This would allow a couple another option
that is going ahead and getting pregnant.
Seeing if the fetus has cystic fibrosis.
If it does,
you could request a therapeutic abortion.
If the fetus does not,
you could go through the remainder of the pregnancy without worrying about
this.
But bear in mind that that isn't possible at
the present time.
But we don't,
we don't need to give up the idea of having more
Children.
I mean,
for us,
we've talked about this already and the
25% just
seems too terrible,
especially if the,
if the child will live to be
12 or 13.
And we just sort of
said,
well,
no more,
no more Children.
But,
but what you said is not,
it gives us maybe a chance of
later on.
And it's wise to remember that it's difficult to find
babies for adoption now they're harder and harder to come
by.
So I wouldn't just assume that that that's a
possibility.
Well,
I will be writing a letter summarizing these points
to you.
I should mention that no one else in the family is
at risk,
particularly for having an affected child.
I wouldn't think that Joe,
for instance,
would have cystic fibrosis.
It's possible but it's very remote.
Uh,
the main member of your family
who is liable to have cystic fibrosis would be
your future Children.
Chris',
future brothers and sisters and I'll be writing a
letter summarizing all of these points to you
and we'll send a copy of that
to Dr Andrews.
Well,
thank you very much.
Thank you.
Enjoy meeting here.
Hi.
Hi.
Um,
doctor asked me to come in
and,
um,
make sure that I have your address.
Right.
And,
and I think we have Doctor Andrews address.
He,
he corresponded with us and the way I
have it on your address,
it's,
uh,
on a drive in Wilmington North.
Ok.
Well,
as he mentioned,
he will be sending a summary report to you.
Mhm.
And if it's ok with you,
we'll send one to your,
your referring physician or your family physician.
Um,
Doctor Andrews.
Um,
probably within a year,
more or less,
someone may be coming around to speak to you either by
phone or a visit or a letter in the
mail asking some personal questions to
see if you have any
problems.
Um,
what decisions you've made as a result of the
counseling.
And also to see if there's still some questions you might
have in regards to the discussion here
and if we have more questions we can
write or call.
Oh,
certainly,
please.
Do.
Do,
do you feel like you had a chance now to discuss
most of the questions that you did have?
Still sort of complicated?
It's complicated.
But I think we know certainly more we
start making some concrete decisions.
You feel easier now that you have talked with.
Oh,
well,
that's good.
And probably any other questions that you do have
the letter may help to clarify it.
If you have more questions,
perhaps you can discuss it with Doctor Andrews
and if you're still satisfied,
give us a call or write us a note and I'm
certain doctor K will be glad to speak to you again
and answer any questions you have.
Ok.
Uh What do you feel that the risk for the next
child will be well for
the next child?
Um,
25%.
Yeah.
What about future Children?
Do you?
Well,
I,
I don't understand.
I,
I think it depends on whether or not
the next child is sick or
not and if you
have,
if it's sick,
then I think the one after that won't,
won't be,
well,
in other words,
if you do have the,
if your next child is affected,
you feel you the next one will be
ok.
Yeah.
Well,
I think Doctor Kin would probably say
that you have the same chance with each child,
with each future.
Right?
I mean,
it's,
it's not,
um,
but I think the letter may help clarify that but I
think you could assume that for each
child that comes along you have exactly the same
chance.
So on.
Well,
are you going to drive back?
No,
that's right.
You're gonna stay in chat,
right.
So,
at least you don't have a long drive back.
Ok.
Well,
I hope all goes.
Well,
ok,
thank you very much.
Glad you came here to talk with us and any other questions you
might have just let us know?
Ok,
thank you.
Good bye bye bye.