[doctor] hello .
[patient_guest] hi .
[doctor] i'm dr. evelyn , one of the kidney doctors . it's good to meet you guys .
[patient_guest] it's nice to meet you also .
[doctor] yeah . so i was reading about this syndrome that i actually have never heard of .
[patient_guest] yeah , me too .
[doctor] i do n't think it's very common .
[patient_guest] definitely not . it's c- pretty rare .
[doctor] so-
[doctor] can you start at the beginning ? i know she's a twin , so are these your first two babies ?
[patient_guest] no , i have a son also who is nine . he also has autism .
[doctor] okay .
[patient_guest] and when the twins were born , katherine , she was about 4 pounds , 8 ounces . and her twin was a bit smaller , at 3 pounds , 13 ounces .
[patient_guest] katherine , she was doing fine . she just had problems with eating , where she would stop breathing when she was eating .
[doctor] like preemie type stuff ?
[patient_guest] uh- . yeah . she just had a hard time regulating her temperature , but she did fine . she does have a gi doctor , because she has reflex really bad . she also had a dietician , who told us to take her off cow's milk . which we did . and then she has seen an allergist , and also a neurologist ... who diagnosed her with this syndrome , because she still does n't walk and she was n't sitting by herself a year old .
[doctor] yeah .
[patient_guest] but so now she is crawling and she is trying to take steps , so think she's doing pretty good .
[doctor] good . is she in therapy ?
[patient_guest] she is in therapy . she's in feeding therapy , occupational therapy , and also physical therapy .
[doctor] awesome . okay .
[patient_guest] and we also have speech therapy , who is going to be starting within the next couple of weeks .
[doctor] that's great .
[patient_guest] so , she has a lot of therapies . we have also seen an orthopedic and an ophthalmologist . i can never say that . we have seen everything , really .
[doctor] and audiology too , right ?
[patient_guest] yes .
[doctor] yeah , wow. .
[patient_guest] yeah , it has definitely been a whirlwind of stuff . when we saw the geneticist , she told us that sometimes people with this syndrome , they have trouble with their kidneys . that they might actually fuse into one . she also said sometimes they have problems with their legs , so that was why we saw ortho .
[doctor] okay . okay .
[patient_guest] so we have seen everybody , really . we are just here to make sure that her kidneys are looking good right now .
[doctor] yeah , okay . so , um , tell me about how many wet diapers she has in a 24 hour period ?
[patient_guest] she has a lot .
[doctor] so like normal 8 to 10 , or like 20 ?
[patient_guest] yeah , it's around 8 to 10 .
[doctor] okay . great .
[patient_guest] yeah , she seems to pee a lot , and it feels like she drinks a lot too .
[doctor] that's perfect .
[patient_guest] and she used to only drink milk , and then i took her off dairy milk . so when i say milk , i actually mean , you know , ripple pea protein milk .
[doctor] sure , yeah .
[patient_guest] so i give her that milk , water now that she's used to it , and sometimes water with just a little bit of juice . so i do feel like she's drinking a lot better now .
[doctor] that's great . and she's how old now ?
[patient_guest] she'll be two mo- two next month .
[doctor] okay . is her twin a boy or a girl ?
[patient_guest] she's a girl .
[doctor] okay , and how's she doing ?
[patient_guest] she's doing really good . she's running around , and she does n't have any problems .
[doctor] all right . is she bigger than her or the same size ?
[patient_guest] they're about the same size . they're able to wear the same clothes , so ...
[doctor] okay .
[patient_guest] i do n't even think she's a pound hav- heavier , actually .
[doctor] yeah . yeah .
[patient_guest] but she is a little bit taller than her ... um , katherine . she's just sh- a little shorter and chunkier , but i think that's a part of her syndrome .
[doctor] yeah . yeah , i was reading all the things associated with the syndrome . it sounds like we're looking for continual- congenital anomalies wi- of the kidney and urinary tract . which is basically something is wrong with the plumbing .
[patient_guest] okay .
[doctor] so the only way to know that , is to do a kidney ultrasound .
[patient_guest] okay , that sounds okay .
[doctor] okay . let me put that into the system , and then downstairs they can do the ultrasound .
[patient_guest] all right , thank you .
[doctor] okay , yeah . where do you all live ?
[patient_guest] uh , we live in dallas .
[doctor] okay . anybody in the family with kidney failure , dialysis or transplant ?
[patient_guest] no .
[doctor] okay . so let's get your ultrasound done , and we'll see how it goes .
[patient_guest] all right , that sounds good .
[doctor] all right . let me take a quick look at her .
[patient_guest] sure .
[doctor] all right . please use my physical exam template . um , i wan na take a quick listen to her heart and lungs . i'll look in her ears too . and she can sit , she can just sit on your lap .
[patient_guest] okay .
[doctor] all right . that's it .
[patient_guest] all right , that was n't too bad .
[doctor] hmm . so , let's complete the ultrasound today . i'll call you with the results . if it's normal , you wo n't need to see me again , but if it's abnormal , you can see me in kennesaw .
[patient_guest] okay , that sounds good .
[doctor] okay . we'll determine what the next steps are if there are any , after we see her results .
[patient_guest] all right , sounds good . thank you .
[doctor] you're welcome . the nurse will be in to have you complete some paperwork , and give you instructions for the ultrasound . we'll talk soon .
[patient_guest] all right . thank you , and have a good day .
[doctor] you too .
[doctor] all right . physical exams show the well-nourished female , who is slightly fussy when examined . eyes are small appearing . she has mild hypotonia of the lower extremities in her arms . normal external female genitalia .
[doctor] assessment and plan . katherine is a 22-month-old former 34 and 3-week-old , twin with smith magenis syndrome . several organ systems can be affected by this chromosomal deletion syndrome . congenital anomalies of the kidney and urinary tract have been reported in the literature .
[doctor] we will obtain the screening of the kidneys by ultrasound today . if there are abnormalities on the kidney ultrasound , we will determine next steps and future follow-up . the family lives in dallas , georgia , so her follow-up should be at the town center location .
[doctor] end of recording .

Medical orders:
description: kidneys by ultrasound ultrasound today .
order_type: imaging
reason: smith magenis syndrome
description: kennesaw follow-up
order_type: followup
reason: if there are abnormalities on the kidney ultrasound