WEBVTT

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*This machine-generated transcript may have errors. If remediation or a manually-generated transcript is needed, please contact NLM Support at https://support.nlm.nih.gov.*

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Hi Jenna.

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It's nice to see you today.

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Would you like uh old humpty dumpty?

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Okay.

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There you go.

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Well,

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Mrs Jackson.

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

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

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Jeff and his health problems and

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established his medical record here in our

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clinic.

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And today we're looking forward to the opportunity to

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hearing from you about Jenna.

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You told us that

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Jeff had congenital adrenal hyperplasia was

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identified when Jenna was born.

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

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is how all this happened.

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And from the

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beginning from the beginning,

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from Jenna's when Jenna was born.

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And you first encountered this problem.

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

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Be quiet now while mommy's talking.

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All right,

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okay,

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Well,

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that's well,

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just those kind of happy sounds.

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Don't bother us one bit okay,

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when she was born and she had we had

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Dr Mackenzie smith come in to give her the once

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over as all newborns,

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I guess.

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And he detected that she,

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I'm not sure on this.

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

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this goes,

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but either she had

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a it's a fused

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vaginal opening.

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So in order to get to the bottom

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of why this happened,

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he did suspect maybe this could be the

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adrenal problem because also her coloring,

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which was a little dark.

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And So they

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did a 24 hour urine test in the hospital,

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which wasn't,

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they didn't complete it.

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It was a little difficult to do it?

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So,

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at three weeks of age,

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she went into the hospital and had

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to 24 hour urine collections.

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And then this detected that this is a,

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you know what she did indeed have.

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Okay Jenna,

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if you want to go out with her some toys,

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you just go right ahead.

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So she was in the hospital.

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The abnormality was something the doctor picked up in

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the general area with the fused vaginal folds

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and perhaps some

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darkening color of the skin.

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And then after a couple of weeks,

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just to be sure they had her in the

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hospital to collect urine for 24 hours for two

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consecutive days.

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And after that test was done then

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uh DR Mackenzie smith talked to you about the

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problem.

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And where did you go from there?

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Well,

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kind of in dr smith and the

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orthopedic hospital and they worked together

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and mostly it was through the hospital and they

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had us come out and checked have been checking

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

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it went to once every now.

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It's once every three months.

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And they take blood tests.

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And they also she's been in to have the

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collection I think in the hospital twice.

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And then we have done it at home I think

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

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five times at home.

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So it's periodically whenever they have either

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

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then they'll call for a collection.

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But other than the initial collections when she was

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three months,

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it's just the clinic visits,

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Clinic visits and blood tests and urine testing.

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

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on occasion.

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You say she takes medicine.

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When did that start?

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Well now that started at three

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weeks when they detected it.

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

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And I had to give her

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shots every I think at

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

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And then it was every other day.

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And she finally did take the oral at a year.

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So for the first year you were playing nurse giving injections

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and this was something to get used to.

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It never did get used to it

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when she was first found to have this

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abnormality.

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Uh And you waited two or three weeks,

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she appeared to be to you at least you went home

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a good normal healthy baby.

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Yes she did.

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I think they had us watch the

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vomiting problem when she was little

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and she didn't have much.

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I didn't think it was anything

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extraordinary and that I had Jeff and knew what he was

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like to thinking that everything was fine.

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So once in a while she would and it would

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alarm me.

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And I tell them this but they were worried about the

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salt losing problem and the vomiting

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as far as the abnormality in the genitalia is concerned.

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Was this something that was so something you had noticed

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or is it uh was it that abnormal that

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

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Do you think I probably would have.

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But in talking to the to the physicians

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out at the hospital and the clinic apparently it

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isn't that abnormal.

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And um when she was born

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and um

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the the doctor that delivered

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

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So it wasn't that obvious

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apparently and the clitoris wasn't so enlarged that this

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was grossly abnormal to your inspector.

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

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Everything that's good.

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How did she grow during those first

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

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They kept pretty good watch on her and they kept her

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right smack in the middle of the charts.

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They had the the height and the weight and

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and planned it out for me and

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showed me exactly how she was going.

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And if it dropped a little or she

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wasn't going on the steady upgrade of the way

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she was supposed to go.

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Well then they would do something about her

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dosage of medicine.

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So they controlled and monitored

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her growth progress and manage the

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medicine.

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Keeping with that.

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What about blood pressure did they discuss blood pressure with

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you?

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There was a problem with blood pressure when she

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was thought to be assault

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loser and she was given

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the gosh that name

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again.

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Record shot.

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And apparently right after the accordion

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shot,

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

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because I don't understand that but it was

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off and they wanted to see her I think in two

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weeks or one week to check it again.

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So instead of giving her the accordion

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shot once a month like they should,

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they thought they would have to,

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

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pressure would would um go back to

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normal.

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And in this way they have come to the conclusion

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that she has probably kind of a borderline cases

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as far as the salt losing goes and her blood

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pressure did stabilize.

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And you've never had to really

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control increasing her salt or provide extra salt

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for in her diet.

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No,

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I've,

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

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give her some saltier things,

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especially when she has had maybe a temperature or

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something or is sick has a

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cold fine.

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So neither the blood pressure nor the salt

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losing has been a particular problem

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and the growth has stayed within a

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narrow band of normal.

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She's on a little short.

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But I think she would be anyway.

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Yes,

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there's this,

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there are some genetic influences that

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exert very definite influence.

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There has she had other illnesses now.

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Besides this problem during the first year.

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No she hasn't and no

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colds or infections or bad falls.

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No I think she did have a burn.

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She had a burn on her foot which was about the

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size of a dime.

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Maybe it was on the the side of

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her foot and I can't tell

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you.

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I think it blistered and it was a trip

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to the doctor.

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

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So she didn't have trouble with respiratory infections

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or any problems like

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that.

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How she didn't say during the second year now

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she just started the second,

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she just started the second year.

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But she's been really I

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think it's unusual Jeff I had

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so much,

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

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that's really caught on,

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she did have a stomach flu once and that

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

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But that was it.

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Her birthday.

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Her birthday is

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I have birthdays on a roll

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September 30,

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september 30th.

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Uh huh,

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71.

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So she's just

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to just to and

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Jeff's birthday the other Children on september and october

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Jay's is September

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14 and Jeff's December

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one so she's

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just

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well I thought mothers did well with

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that fathers can get in

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trouble remembering birthdays and names sometimes

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

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second year.

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She's been unusually healthy And

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uh no serious problems and

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

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to the doctor.

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I might add that one time.

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

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She did react.

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I think a little unusually I was of course when

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

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you are so conscious of every little thing.

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So she was

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just completely

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Motionless after she had been sick for a day or

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two.

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She hadn't,

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I think she had had the vomiting a day

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or two before with the stomach flu and had

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diarrhea and the whole thing with the,

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with the bug,

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so to speak.

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So I think it was a full day later.

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And then she just really reacted.

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I thought unusual for her.

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She just didn't.

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First of all,

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she slept a lot.

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I couldn't,

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I had to go and wake her up at about

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Say 1130 and she was usually up at

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7:30 every single day.

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When I did get her up,

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she wanted to go back to sleep.

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And then when she was up,

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she just laid on the couch or wherever.

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I just wouldn't move any arms and

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legs or anything.

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And at this point I did call

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uh my pediatrician and we went down

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and he checked her blood pressure and all her vital

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signs right there and then and he did report that

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everything was fine and this happened a second

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time.

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And at this point this was another

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maybe five or six months later.

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At this point I called the clinic and

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they just had me increase the dosage of

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cortisone and

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

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hours.

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Do you recall what the dose of medicine is?

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She's on now?

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She's on two

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mg.

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Mhm.

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

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course by the time she's two years

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old and the

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whooping cough and media and

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tetanus and diphtheria.

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Smallpox vaccination with the

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scar,

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the measles and german

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measles and

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mumps vaccine,

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not Just the two measles

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tuberculosis skin test just very

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recently and that was negative.

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So

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uh now

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just to check out a few things as she with her

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

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her ears.

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

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sore throats and things you say,

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no concern about her eyes,

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lungs and harder.

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All right.

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She had the one episode of stomach flu.

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She had any other stomach upsets.

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Her constipation isn't a

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problem.

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And any in full urinary tract

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infection.

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Has this been a problem?

12:28.180 --> 12:28.540
No,

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

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carefully but no

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problems.

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And she's had no seizures.

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But this one episode of weakness where she did was

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a little bit of concern following the diarrhea and

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vomiting.

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I suppose I was just more concerned because I've

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been told to watch it.

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So at all.

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

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emphasizing to you and we would also,

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it's a point of of a very

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real concern particularly associated with vomiting

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diarrhea when there can be unusual salt loss and

13:02.710 --> 13:05.390
anyone when you were uh

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pregnant and carrying Jenna,

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uh did this pregnancy seemed to be about the

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same as your previous experience?

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Uh Jeff I think on the whole it

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was maybe I didn't,

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I was,

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I had the nausea for maybe about

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four months or something where as with Jeff,

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

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vomited.

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But I did feel I think generally a

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little a little

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worse.

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And the delivery.

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Was this remarkable in any way?

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No,

13:37.780 --> 13:39.120
in fact it was,

13:41.030 --> 13:41.870
she weighed

13:41.870 --> 13:45.960
777.

13:47.610 --> 13:50.610
So and did you

13:50.620 --> 13:51.290
breast feed her?

13:51.290 --> 13:53.860
Was she fed a formula formula?

13:53.870 --> 13:55.050
And what kind of formula

13:56.630 --> 13:58.460
did they have?

13:58.460 --> 13:59.670
The iron in it or?

13:59.680 --> 14:00.260
No.

14:02.040 --> 14:04.810
And you live in a community that has

14:04.810 --> 14:06.680
fluoride or did have fluoride in the water?

14:07.390 --> 14:08.570
I think we'll wait.

14:08.580 --> 14:09.220
No,

14:09.220 --> 14:12.090
that I'm getting mixed up I think with Jeff we had to

14:12.090 --> 14:14.050
give it wasn't in the water at the time.

14:14.050 --> 14:16.460
But Janet has been for the full two

14:16.460 --> 14:19.420
years in

14:19.420 --> 14:19.980
the family.

14:19.980 --> 14:22.940
Has there been any history of an endocrine problem or a gland

14:22.940 --> 14:25.640
problem such as this that you could find neither your husband's

14:25.640 --> 14:26.740
family or your family.

14:26.750 --> 14:27.170
No,

14:27.170 --> 14:28.570
not that we could do.

14:28.570 --> 14:29.670
You come from a large family?

14:29.680 --> 14:30.460
Yes,

14:30.510 --> 14:31.130
I do.

14:31.140 --> 14:32.600
How many brothers and sisters?

14:32.610 --> 14:35.580
I have three brothers and one sister.

14:35.590 --> 14:36.200
one sister.

14:36.200 --> 14:37.130
And your husband,

14:37.130 --> 14:38.240
does he come from a large family?

14:38.240 --> 14:41.240
He has three sisters and

14:41.240 --> 14:42.930
the cousins and so forth.

14:42.930 --> 14:45.850
And your nephews and nieces on both sides

14:45.850 --> 14:47.490
have not had anything similar to this.

14:47.500 --> 14:50.450
You know in the family,

14:50.460 --> 14:52.990
your parents and your husband's parents and

14:53.000 --> 14:55.830
these uncles and aunts and cousins

14:55.830 --> 14:56.500
etcetera.

14:56.510 --> 14:58.380
Has there been any tuberculosis,

14:59.000 --> 15:00.180
kidney disease?

15:01.590 --> 15:02.670
Heart disease?

15:03.630 --> 15:06.540
Paul's mother passed away

15:06.540 --> 15:08.190
from heart disease

15:08.960 --> 15:11.930
And anyone has any neurological

15:11.930 --> 15:12.390
problems,

15:12.390 --> 15:13.680
seizures Or

15:15.310 --> 15:16.700
has there been any bleeding,

15:17.280 --> 15:18.830
no problem or anemia?

15:18.830 --> 15:20.090
Anyone being treated for anemia?

15:20.090 --> 15:20.420
Yes.

15:20.430 --> 15:21.250
Now that's,

15:21.360 --> 15:23.570
I think my mother's side,

15:23.850 --> 15:25.300
it's a fallacy mia

15:25.820 --> 15:28.760
has that going down the

15:28.770 --> 15:29.940
line.

15:31.310 --> 15:32.540
And uh

15:34.000 --> 15:36.830
what national origin

15:36.830 --> 15:38.710
is your mother's side of the family from?

15:38.720 --> 15:41.580
She's italian italian southern

15:41.580 --> 15:42.860
Italy or northern Italy,

15:43.360 --> 15:44.890
Central Central Italy.

15:45.720 --> 15:48.470
Has there been anyone in the

15:48.470 --> 15:51.370
family that has had the serious form of the

15:51.370 --> 15:54.260
disease that had to be treated with blood transfusions

15:54.260 --> 15:55.170
and so forth?

15:55.180 --> 15:55.990
No.

15:56.130 --> 15:58.450
Oh well this is an

15:59.610 --> 16:00.500
in your mother's family.

16:00.500 --> 16:01.990
My mother is my grandfather,

16:03.790 --> 16:06.460
apparently they when he did die,

16:06.460 --> 16:07.820
he was 82.

16:07.830 --> 16:10.650
But when he died uh they instead

16:10.650 --> 16:13.450
of in other words the cause of

16:13.460 --> 16:16.330
death was acute leukemia and had finally

16:16.340 --> 16:17.660
gotten to that point,

16:17.660 --> 16:20.320
although I think there were other complications involved.

16:20.330 --> 16:21.470
And he was.

16:23.080 --> 16:24.650
Yes.

16:27.940 --> 16:29.790
So uh

16:31.170 --> 16:31.500
well,

16:31.500 --> 16:33.000
to get back to Janet,

16:33.000 --> 16:34.780
there's in the family now,

16:34.780 --> 16:35.830
a younger sibling,

16:35.830 --> 16:37.020
she has a young brother

16:37.820 --> 16:40.470
who's a year old.

16:40.480 --> 16:43.210
Uh He came along

16:43.220 --> 16:46.200
after you knew about the adrenal

16:46.200 --> 16:49.100
genital syndrome or congenital adrenal hyperplasia.

16:49.110 --> 16:51.180
And the doctor has had an opportunity to talk to you

16:51.180 --> 16:52.370
about

16:53.140 --> 16:55.980
the implications of this as

16:55.980 --> 16:57.670
far as other Children were concerned.

16:57.680 --> 16:58.610
Yes,

16:58.610 --> 17:01.580
they had and it

17:01.580 --> 17:02.850
was just one of those things,

17:02.850 --> 17:05.390
you take some precautions and this.

17:05.390 --> 17:08.050
You haven't sat down and planned and decided you would take the

17:08.050 --> 17:10.220
25% risk involved.

17:10.220 --> 17:10.530
No,

17:10.540 --> 17:10.840
no.

17:10.840 --> 17:13.100
He was one of those surprises.

17:13.110 --> 17:15.400
And with this in your,

17:15.410 --> 17:16.200
in your history,

17:16.200 --> 17:16.760
had you,

17:16.760 --> 17:18.760
did you give thought to interrupting the pregnancy?

17:19.610 --> 17:20.510
No.

17:20.990 --> 17:23.610
And I knew what it was going to be.

17:23.610 --> 17:26.490
I knew that he'd be in the hospital at three weeks and I knew

17:26.490 --> 17:29.340
he'd be tied down and it would to get that

17:29.350 --> 17:32.150
urine collection which is so sticky and it

17:32.160 --> 17:34.880
caused me a lot of concern and I would

17:34.880 --> 17:37.160
have rather had it otherwise.

17:37.170 --> 17:39.140
But things worked out for the best.

17:39.140 --> 17:41.780
And so far he's Jenna was doing so well

17:41.780 --> 17:44.660
and Jeff that you felt

17:44.660 --> 17:45.950
if this happened again,

17:45.950 --> 17:47.750
you could live with it,

17:47.760 --> 17:48.860
I guess.

17:48.860 --> 17:49.790
So,

17:49.980 --> 17:50.860
I can remember.

17:51.160 --> 17:52.290
Yes,

17:52.290 --> 17:52.710
it was.

17:53.380 --> 17:54.000
Mhm.

17:54.010 --> 17:54.540
Well,

17:54.540 --> 17:57.370
one other factor related to the adrenal gentle

17:57.370 --> 17:58.120
problem.

17:58.130 --> 18:01.070
Uh I spent uh many years being

18:01.070 --> 18:02.870
supported by school teacher's salary.

18:02.870 --> 18:05.070
And I understand that paul teachers school,

18:05.080 --> 18:07.950
this must represent a uh

18:09.200 --> 18:11.960
having Children requiring this much medical care must represent a

18:11.960 --> 18:13.850
significant financial burden.

18:13.860 --> 18:16.840
Do you have you made special arrangements

18:16.840 --> 18:19.670
of any kind to try and take care of these things or you just

18:19.670 --> 18:21.070
work it into the family budget?

18:21.080 --> 18:22.710
That's what we have been doing.

18:22.720 --> 18:23.900
I think that too.

18:23.900 --> 18:26.880
I just realized here not so long

18:26.880 --> 18:29.510
ago that the clinic will

18:29.990 --> 18:32.770
is starting some sort of a family type

18:32.770 --> 18:34.850
plan and they'll go ahead.

18:34.860 --> 18:37.860
Of course they interview quite thoroughly and what you can

18:37.860 --> 18:40.800
pay uh is about all that they'll really

18:40.800 --> 18:41.590
require.

18:41.600 --> 18:44.000
So it's taken the

18:44.010 --> 18:44.890
pressure off,

18:44.890 --> 18:45.510
so to speak.

18:45.510 --> 18:45.740
You know,

18:45.740 --> 18:48.410
as far as having to to go the whole,

18:48.420 --> 18:51.080
you haven't had to go back to work or make any

18:51.080 --> 18:53.610
undue disrupting arrangements to meet

18:53.610 --> 18:55.140
your medical expenses?

18:55.150 --> 18:58.060
We had our insurance of course,

18:58.070 --> 19:00.340
after you get past the deductible,

19:00.350 --> 19:03.330
it pays for taking care of

19:03.350 --> 19:04.000
some of it.

19:04.460 --> 19:04.680
Now.

19:04.680 --> 19:07.680
Your your husband's name is paul and he does

19:07.680 --> 19:09.190
work as a school teacher.

19:09.190 --> 19:10.030
How old is paul?

19:10.210 --> 19:10.720
He's

19:13.170 --> 19:14.110
and how old are you?

19:14.120 --> 19:15.840
MS Jackson 29.

19:19.780 --> 19:22.560
And as we were chatting when we talked about

19:22.560 --> 19:23.090
Jeff,

19:23.100 --> 19:23.940
he's a coach.

19:24.910 --> 19:27.600
And does this allow him coaching is a very demanding

19:27.600 --> 19:27.990
business.

19:27.990 --> 19:30.660
Does he get home to be with the

19:30.660 --> 19:31.990
Children a bit.

19:32.070 --> 19:32.870
He does,

19:32.880 --> 19:35.710
we're close to the school within three miles.

19:35.710 --> 19:38.700
So he does and he spends a lot

19:38.700 --> 19:41.650
of time and dedicates a lot of time to all three of

19:41.650 --> 19:42.610
the Children.

19:42.610 --> 19:44.830
He's a good father coaches,

19:44.830 --> 19:45.780
make good fathers,

19:46.180 --> 19:48.750
there's no reason why a good father can't be a coach.

19:48.770 --> 19:49.370
I guess.

19:49.370 --> 19:50.680
That's what I said.

19:51.050 --> 19:52.990
And you do have some time in the summers.

19:53.000 --> 19:55.550
What does paul do in the summer now?

19:55.550 --> 19:56.920
That's an interesting,

19:56.930 --> 19:58.510
interesting subject.

19:58.520 --> 19:59.560
He was,

19:59.570 --> 20:01.290
he just completed his master's degree.

20:01.290 --> 20:02.960
He went three summers.

20:02.970 --> 20:05.940
This was prior to this summer and this

20:05.940 --> 20:08.520
summer he got a job and he

20:08.540 --> 20:11.330
drove a truck for Plymouth poultry.

20:11.340 --> 20:14.260
And Jeff went to preschool his first day of

20:14.270 --> 20:17.270
preschool and they asked him what his father did and

20:17.270 --> 20:20.260
he told me he was a chicken truck driver.

20:20.460 --> 20:22.770
So the nursery school,

20:22.770 --> 20:24.920
I would imagine that's a status occupation.

20:24.930 --> 20:26.700
So do you have a home?

20:26.710 --> 20:29.340
You live in an apartment in the place for the

20:29.340 --> 20:29.780
Children?

20:29.830 --> 20:32.220
So would you say that you're a

20:32.230 --> 20:33.780
close knit family?

20:33.810 --> 20:35.090
Yes.

20:35.290 --> 20:37.900
Who stays with the Children when you can get

20:37.900 --> 20:38.490
away?

20:38.500 --> 20:40.700
We have babysitters come out,

20:40.700 --> 20:43.020
but we don't go away very often.

20:43.030 --> 20:44.970
We've never left them overnight.

20:44.980 --> 20:47.610
They come with what are some of

20:47.610 --> 20:50.090
Jenna's most significant recent

20:50.090 --> 20:50.790
accomplishments?

20:50.790 --> 20:53.000
Does she begin to dress herself a bit now?

20:53.560 --> 20:54.350
No,

20:54.360 --> 20:57.210
she can put boots on and a hat on and she

20:57.210 --> 20:58.170
wears those often.

20:58.170 --> 20:59.820
She talks very well.

20:59.830 --> 21:02.580
She says nursery rhymes and can count.

21:02.590 --> 21:04.140
And uh says her a.

21:04.140 --> 21:04.320
B.

21:04.320 --> 21:04.740
C.

21:04.740 --> 21:04.890
S.

21:04.890 --> 21:07.460
And has been doing for a little while,

21:07.470 --> 21:08.400
that sort of thing.

21:08.410 --> 21:11.330
Uh She's

21:11.330 --> 21:14.010
pretty competitive with the with Jeff and have to do

21:14.010 --> 21:14.970
everything he does.

21:14.970 --> 21:16.880
And that includes physical thing.

21:16.880 --> 21:19.800
She's kind of a daredevil as far as that

21:19.810 --> 21:20.280
goes.

21:20.720 --> 21:23.520
And obviously she's not upset about

21:23.530 --> 21:25.160
being separated from you.

21:25.170 --> 21:27.980
This she does easily you can you can be with

21:27.990 --> 21:29.370
and so forth.

21:29.370 --> 21:30.200
She a good scribbler.

21:30.230 --> 21:31.160
Yes.

21:31.170 --> 21:33.580
About she have some blocks at home.

21:33.580 --> 21:34.910
How many does she stack Up?

21:34.920 --> 21:37.710
Oh I'd say she just stack some blocks

21:37.710 --> 21:38.470
before we came.

21:38.470 --> 21:39.540
I'd say about six.

21:39.550 --> 21:41.820
She got up to six big blocks

21:41.840 --> 21:44.690
fine and she uses some words

21:46.090 --> 21:47.520
besides mama and dada.

21:47.870 --> 21:49.900
Oh she speaks very well.

21:50.320 --> 21:51.880
How many words together would you say?

21:52.840 --> 21:55.000
Well I think she,

21:55.010 --> 21:57.150
I don't know if anyone else can understand her.

21:57.150 --> 21:59.430
I think they can but she speaks

22:00.420 --> 22:01.360
45,

22:02.010 --> 22:03.030
5000 words together.

22:03.040 --> 22:04.210
She had a tricycle.

22:04.210 --> 22:05.950
Children don't have anymore.

22:05.960 --> 22:06.940
He has a tricycle.

22:07.740 --> 22:08.340
Yes.

22:09.410 --> 22:12.310
Well she's a very

22:12.310 --> 22:15.190
accomplished young lady and so very

22:15.820 --> 22:16.800
nice to see her.

22:16.800 --> 22:19.790
I think this is about all the

22:19.790 --> 22:22.690
questions we have for now and we'll check

22:22.690 --> 22:25.550
her over and see just how very

22:25.550 --> 22:26.570
well she has been doing.

22:26.570 --> 22:27.870
I'm sure
