Hi Jenna.

It's nice to see you today.

Would you like uh old humpty dumpty?

Okay.

There you go.

Well,

Mrs Jackson.

It's nice to see you again the other day,

we had an opportunity to talk to you about your son,

Jeff and his health problems and 

established his medical record here in our 

clinic.

And today we're looking forward to the opportunity to 

hearing from you about Jenna.

You told us that 

Jeff had congenital adrenal hyperplasia was 

identified when Jenna was born.

And so the thing I think we'd like to hear about first 

is how all this happened.

And from the 

beginning from the beginning,

from Jenna's when Jenna was born.

And you first encountered this problem.

Let me see if I can't quiet her down.

Be quiet now while mommy's talking.

All right,

okay,

Well,

that's well,

just those kind of happy sounds.

Don't bother us one bit okay,

when she was born and she had we had 

Dr Mackenzie smith come in to give her the once 

over as all newborns,

I guess.

And he detected that she,

I'm not sure on this.

You might have to check the records yourself to see exactly how 

this goes,

but either she had 

a it's a fused 

vaginal opening.

So in order to get to the bottom 

of why this happened,

he did suspect maybe this could be the 

adrenal problem because also her coloring,

which was a little dark.

And So they 

did a 24 hour urine test in the hospital,

which wasn't,

they didn't complete it.

It was a little difficult to do it?

So,

at three weeks of age,

she went into the hospital and had 

to 24 hour urine collections.

And then this detected that this is a,

you know what she did indeed have.

Okay Jenna,

if you want to go out with her some toys,

you just go right ahead.

So she was in the hospital.

The abnormality was something the doctor picked up in 

the general area with the fused vaginal folds 

and perhaps some 

darkening color of the skin.

And then after a couple of weeks,

just to be sure they had her in the 

hospital to collect urine for 24 hours for two 

consecutive days.

And after that test was done then 

uh DR Mackenzie smith talked to you about the 

problem.

And where did you go from there?

Well,

kind of in dr smith and the 

orthopedic hospital and they worked together 

and mostly it was through the hospital and they 

had us come out and checked have been checking 

her I think at first it was once every month and then 

it went to once every now.

It's once every three months.

And they take blood tests.

And they also she's been in to have the 

collection I think in the hospital twice.

And then we have done it at home I think 

about she's two now and I think we've done it maybe 

five times at home.

So it's periodically whenever they have either 

changed the dosage and they want to check to see if it's right 

then they'll call for a collection.

But other than the initial collections when she was 

three months,

it's just the clinic visits,

Clinic visits and blood tests and urine testing.

Now you're getting to be a collector of 24 hour urine at home 

on occasion.

You say she takes medicine.

When did that start?

Well now that started at three 

weeks when they detected it.

And it was certain that this is the problem that she had.

And I had to give her 

shots every I think at 

first it was every day for about a week or two.

And then it was every other day.

And she finally did take the oral at a year.

So for the first year you were playing nurse giving injections 

and this was something to get used to.

It never did get used to it 

when she was first found to have this 

abnormality.

Uh And you waited two or three weeks,

she appeared to be to you at least you went home 

a good normal healthy baby.

Yes she did.

I think they had us watch the 

vomiting problem when she was little 

and she didn't have much.

I didn't think it was anything 

extraordinary and that I had Jeff and knew what he was 

like to thinking that everything was fine.

So once in a while she would and it would 

alarm me.

And I tell them this but they were worried about the 

salt losing problem and the vomiting 

as far as the abnormality in the genitalia is concerned.

Was this something that was so something you had noticed 

or is it uh was it that abnormal that 

you would have been concerned about it if they hadn't told you?

Do you think I probably would have.

But in talking to the to the physicians 

out at the hospital and the clinic apparently it 

isn't that abnormal.

And um when she was born 

and um 

the the doctor that delivered 

her took a look at her and thought everything was fine.

So it wasn't that obvious 

apparently and the clitoris wasn't so enlarged that this 

was grossly abnormal to your inspector.

And it's not required any kind of surgical correction.

Everything that's good.

How did she grow during those first 

few months or say for the first year what was her growth rate?

They kept pretty good watch on her and they kept her 

right smack in the middle of the charts.

They had the the height and the weight and 

and planned it out for me and 

showed me exactly how she was going.

And if it dropped a little or she 

wasn't going on the steady upgrade of the way 

she was supposed to go.

Well then they would do something about her 

dosage of medicine.

So they controlled and monitored 

her growth progress and manage the 

medicine.

Keeping with that.

What about blood pressure did they discuss blood pressure with 

you?

There was a problem with blood pressure when she 

was thought to be assault 

loser and she was given 

the gosh that name 

again.

Record shot.

And apparently right after the accordion 

shot,

the blood pressure was off and I can't give you any numbers 

because I don't understand that but it was 

off and they wanted to see her I think in two 

weeks or one week to check it again.

So instead of giving her the accordion 

shot once a month like they should,

they thought they would have to,

they decided to take her off of it to see if the blood 

pressure would would um go back to 

normal.

And in this way they have come to the conclusion 

that she has probably kind of a borderline cases 

as far as the salt losing goes and her blood 

pressure did stabilize.

And you've never had to really 

control increasing her salt or provide extra salt 

for in her diet.

No,

I've,

it's been mentioned to me to go ahead and and 

give her some saltier things,

especially when she has had maybe a temperature or 

something or is sick has a 

cold fine.

So neither the blood pressure nor the salt 

losing has been a particular problem 

and the growth has stayed within a 

narrow band of normal.

She's on a little short.

But I think she would be anyway.

Yes,

there's this,

there are some genetic influences that 

exert very definite influence.

There has she had other illnesses now.

Besides this problem during the first year.

No she hasn't and no 

colds or infections or bad falls.

No I think she did have a burn.

She had a burn on her foot which was about the 

size of a dime.

Maybe it was on the the side of 

her foot and I can't tell 

you.

I think it blistered and it was a trip 

to the doctor.

Yes there were a couple and it had to be checked again and again.

So she didn't have trouble with respiratory infections 

or any problems like 

that.

How she didn't say during the second year now 

she just started the second,

she just started the second year.

But she's been really I 

think it's unusual Jeff I had 

so much,

so many colds and with her she's never had one 

that's really caught on,

she did have a stomach flu once and that 

that put her out of commission for a day or two.

But that was it.

Her birthday.

Her birthday is 

I have birthdays on a roll 

September 30,

september 30th.

Uh huh,

71.

So she's just 

to just to and 

Jeff's birthday the other Children on september and october 

Jay's is September 

14 and Jeff's December 

one so she's 

just 

well I thought mothers did well with 

that fathers can get in 

trouble remembering birthdays and names sometimes 

but we have a girl who's in just two in the 

second year.

She's been unusually healthy And 

uh no serious problems and 

there's been no surgery or no accidents except the burn that took her 

to the doctor.

I might add that one time.

I think it was the stomach flu I was talking about.

She did react.

I think a little unusually I was of course when 

they give you all these things to look for at the hospital,

you are so conscious of every little thing.

So she was 

just completely 

Motionless after she had been sick for a day or 

two.

She hadn't,

I think she had had the vomiting a day 

or two before with the stomach flu and had 

diarrhea and the whole thing with the,

with the bug,

so to speak.

So I think it was a full day later.

And then she just really reacted.

I thought unusual for her.

She just didn't.

First of all,

she slept a lot.

I couldn't,

I had to go and wake her up at about 

Say 1130 and she was usually up at 

7:30 every single day.

When I did get her up,

she wanted to go back to sleep.

And then when she was up,

she just laid on the couch or wherever.

I just wouldn't move any arms and 

legs or anything.

And at this point I did call 

uh my pediatrician and we went down 

and he checked her blood pressure and all her vital 

signs right there and then and he did report that 

everything was fine and this happened a second 

time.

And at this point this was another 

maybe five or six months later.

At this point I called the clinic and 

they just had me increase the dosage of 

cortisone and 

that idea and then she snapped out of it after a few 

hours.

Do you recall what the dose of medicine is?

She's on now?

She's on two 

mg.

Mhm.

So she's had I suppose now some of the immunizations of 

course by the time she's two years 

old and the 

whooping cough and media and 

tetanus and diphtheria.

Smallpox vaccination with the 

scar,

the measles and german 

measles and 

mumps vaccine,

not Just the two measles 

tuberculosis skin test just very 

recently and that was negative.

So 

uh now 

just to check out a few things as she with her 

cold as she had any that she had did it settled in 

her ears.

Did she have any ear infection And she hasn't had 

sore throats and things you say,

no concern about her eyes,

lungs and harder.

All right.

She had the one episode of stomach flu.

She had any other stomach upsets.

Her constipation isn't a 

problem.

And any in full urinary tract 

infection.

Has this been a problem?

No,

I've been told to go ahead and watch that pretty 

carefully but no 

problems.

And she's had no seizures.

But this one episode of weakness where she did was 

a little bit of concern following the diarrhea and 

vomiting.

I suppose I was just more concerned because I've 

been told to watch it.

So at all.

And this obviously is something that the doctors I know I've been 

emphasizing to you and we would also,

it's a point of of a very 

real concern particularly associated with vomiting 

diarrhea when there can be unusual salt loss and 

anyone when you were uh 

pregnant and carrying Jenna,

uh did this pregnancy seemed to be about the 

same as your previous experience?

Uh Jeff I think on the whole it 

was maybe I didn't,

I was,

I had the nausea for maybe about 

four months or something where as with Jeff,

I didn't have any and it wasn't that bad that I ever 

vomited.

But I did feel I think generally a 

little a little 

worse.

And the delivery.

Was this remarkable in any way?

No,

in fact it was,

she weighed 

777.

So and did you 

breast feed her?

Was she fed a formula formula?

And what kind of formula 

did they have?

The iron in it or?

No.

And you live in a community that has 

fluoride or did have fluoride in the water?

I think we'll wait.

No,

that I'm getting mixed up I think with Jeff we had to 

give it wasn't in the water at the time.

But Janet has been for the full two 

years in 

the family.

Has there been any history of an endocrine problem or a gland 

problem such as this that you could find neither your husband's 

family or your family.

No,

not that we could do.

You come from a large family?

Yes,

I do.

How many brothers and sisters?

I have three brothers and one sister.

one sister.

And your husband,

does he come from a large family?

He has three sisters and 

the cousins and so forth.

And your nephews and nieces on both sides 

have not had anything similar to this.

You know in the family,

your parents and your husband's parents and 

these uncles and aunts and cousins 

etcetera.

Has there been any tuberculosis,

kidney disease?

Heart disease?

Paul's mother passed away 

from heart disease 

And anyone has any neurological 

problems,

seizures Or 

has there been any bleeding,

no problem or anemia?

Anyone being treated for anemia?

Yes.

Now that's,

I think my mother's side,

it's a fallacy mia 

has that going down the 

line.

And uh 

what national origin 

is your mother's side of the family from?

She's italian italian southern 

Italy or northern Italy,

Central Central Italy.

Has there been anyone in the 

family that has had the serious form of the 

disease that had to be treated with blood transfusions 

and so forth?

No.

Oh well this is an 

in your mother's family.

My mother is my grandfather,

apparently they when he did die,

he was 82.

But when he died uh they instead 

of in other words the cause of 

death was acute leukemia and had finally 

gotten to that point,

although I think there were other complications involved.

And he was.

Yes.

So uh 

well,

to get back to Janet,

there's in the family now,

a younger sibling,

she has a young brother 

who's a year old.

Uh He came along 

after you knew about the adrenal 

genital syndrome or congenital adrenal hyperplasia.

And the doctor has had an opportunity to talk to you 

about 

the implications of this as 

far as other Children were concerned.

Yes,

they had and it 

was just one of those things,

you take some precautions and this.

You haven't sat down and planned and decided you would take the 

25% risk involved.

No,

no.

He was one of those surprises.

And with this in your,

in your history,

had you,

did you give thought to interrupting the pregnancy?

No.

And I knew what it was going to be.

I knew that he'd be in the hospital at three weeks and I knew 

he'd be tied down and it would to get that 

urine collection which is so sticky and it 

caused me a lot of concern and I would 

have rather had it otherwise.

But things worked out for the best.

And so far he's Jenna was doing so well 

and Jeff that you felt 

if this happened again,

you could live with it,

I guess.

So,

I can remember.

Yes,

it was.

Mhm.

Well,

one other factor related to the adrenal gentle 

problem.

Uh I spent uh many years being 

supported by school teacher's salary.

And I understand that paul teachers school,

this must represent a uh 

having Children requiring this much medical care must represent a 

significant financial burden.

Do you have you made special arrangements 

of any kind to try and take care of these things or you just 

work it into the family budget?

That's what we have been doing.

I think that too.

I just realized here not so long 

ago that the clinic will 

is starting some sort of a family type 

plan and they'll go ahead.

Of course they interview quite thoroughly and what you can 

pay uh is about all that they'll really 

require.

So it's taken the 

pressure off,

so to speak.

You know,

as far as having to to go the whole,

you haven't had to go back to work or make any 

undue disrupting arrangements to meet 

your medical expenses?

We had our insurance of course,

after you get past the deductible,

it pays for taking care of 

some of it.

Now.

Your your husband's name is paul and he does 

work as a school teacher.

How old is paul?

He's 

and how old are you?

MS Jackson 29.

And as we were chatting when we talked about 

Jeff,

he's a coach.

And does this allow him coaching is a very demanding 

business.

Does he get home to be with the 

Children a bit.

He does,

we're close to the school within three miles.

So he does and he spends a lot 

of time and dedicates a lot of time to all three of 

the Children.

He's a good father coaches,

make good fathers,

there's no reason why a good father can't be a coach.

I guess.

That's what I said.

And you do have some time in the summers.

What does paul do in the summer now?

That's an interesting,

interesting subject.

He was,

he just completed his master's degree.

He went three summers.

This was prior to this summer and this 

summer he got a job and he 

drove a truck for Plymouth poultry.

And Jeff went to preschool his first day of 

preschool and they asked him what his father did and 

he told me he was a chicken truck driver.

So the nursery school,

I would imagine that's a status occupation.

So do you have a home?

You live in an apartment in the place for the 

Children?

So would you say that you're a 

close knit family?

Yes.

Who stays with the Children when you can get 

away?

We have babysitters come out,

but we don't go away very often.

We've never left them overnight.

They come with what are some of 

Jenna's most significant recent 

accomplishments?

Does she begin to dress herself a bit now?

No,

she can put boots on and a hat on and she 

wears those often.

She talks very well.

She says nursery rhymes and can count.

And uh says her a.

B.

C.

S.

And has been doing for a little while,

that sort of thing.

Uh She's 

pretty competitive with the with Jeff and have to do 

everything he does.

And that includes physical thing.

She's kind of a daredevil as far as that 

goes.

And obviously she's not upset about 

being separated from you.

This she does easily you can you can be with 

and so forth.

She a good scribbler.

Yes.

About she have some blocks at home.

How many does she stack Up?

Oh I'd say she just stack some blocks 

before we came.

I'd say about six.

She got up to six big blocks 

fine and she uses some words 

besides mama and dada.

Oh she speaks very well.

How many words together would you say?

Well I think she,

I don't know if anyone else can understand her.

I think they can but she speaks 

45,

5000 words together.

She had a tricycle.

Children don't have anymore.

He has a tricycle.

Yes.

Well she's a very 

accomplished young lady and so very 

nice to see her.

I think this is about all the 

questions we have for now and we'll check 

her over and see just how very 

well she has been doing.

I'm sure