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What to expect from a genetics appt?

458 Views 2 Replies 3 Participants Last post by  sbgrace
We recently decided to schedule an appointment with a geneticist, and I'm not sure what to expect (its on Monday). We've got no diagnosis, and no absolute confirmation that what DD has going on is genetic, though her younger brother (only full sibling) also has her same issues though so far to a slightly lesser degree since his weight has not yet tapered off as much as hers had at this point. What happened on your first appt? Did you have a diagnosis before seeing genetics? What should I know beforehand and what questions would you have?

Just for info, DD doesn't tolerate intact foods. She tolerates Elecare (elemental formula) and water. She doesn't tolerate even plain table sugar. She has some general trunk muscle weakness but its very minor, and she doesn't tolerate heat. When being fed normal foods, her immune system tanks, she wakes screaming and vomiting at night and stops growing despite getting 4-500 calories extra per day. So far, we've not had any possible answers so this is just a shot in the dark.
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When we went to a geneticist, they basically did the same thing as the doctor at our Level 3 ultrasound during my pg - a very detailed family tree, talking about every family member's health history. To tell you the truth, I was a bit disappointed, and had I known, we would not have gone, since it seemed to duplicate the review at the US and did not give us any additional information. In the end, they did not do actual genetic testing with my DD, so we only had that first appointment.
Perhaps yours will be different, but that is what our appt was like.

We had a potential dx, (actually two possible) not confirmed, and it was one step in confirming/ruling out.
You should gather all the info on your family and her father's family, as detailed health history as you can, back to grandparents or as far back as you can gather, even anecdotal may be of interest.

Good luck, mama. Hope it is helpful for you.
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We've had three different metabolic/genetic evals and all were similar. They do all the typical things--growth charts, blood pressure, listen to heart, little exam, etc. They take a detailed family history (including other pregnancies or miscarriages) and child history (preganancy, birth, post). They ask the questions. The doctor did an exam counting dysmorphisms--I think that is the word. He notes any physical abnormalities basically--measuring the distance between eyes, looking at ears, looking at fingers/toes, hair, etc. Those may be little non-consequential genetic markers (like all my kids and myself have crooked pinkies and both my kids have multiple hair whorls from their daddy) or ones more indicative of something genetic. If I think of anything else I'll come back.

For the first we walked in blindly though I was concerned/thought something might be up. For the next two we did have labs and findings though no diagnosis.
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