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