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.