Roundtrip bus fare: $3.60
Roundtrip subway fare: $2.50
Office visit co-pay: $15.00
Roundtrip travel time: about 2 hours
Taking a trip into town to see our Genetics doctor who told us that the blood test came back negative for the known gene mutation associated with noonan syndrome but that only about half of the cases with a clinical diagnosis do have the mutation (which I already knew)...
POINTLESS.
I mean, seriously, couldn't he have just called me and saved me the time and money???? He really had nothing else to add but to tell me things I already knew---such as, "did you know that there is a doctor here who is running a study on noonan syndrome?" (Uh, yeah, I mentioned it to YOU at our last appointment) and would we like Sylvie to be involved in the study? (YES....again, something I had brought up at our previous appointment). The doctor who is heading the study happened to be in an adjacent office so our genetics doc asked her to come in and talk to us. She told us that her assistant would be calling us shortly to arrange for us to bring Sylvie in to be enrolled in the study which would entail an exam and yet more bloodwork. While I hate subjecting my baby to needles as much as any mom, I think in this case it's worth it if Sylvie's participation in the research can help draw a clearer picture of noonan syndrome.
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2 comments:
Do you know this post shows up 3 times (at least on my computer)?
One thing I've learned from TNSSG is that "Noonies" and their parents are often more knowledgable on the syndrome than their doctors.
Did you tell the researcher that you're one of the moms trying to set up a local support group? Hopefully, Sylvie's bloodwork for the research can also be used for something else (there's always some doctor wanting our girls' blood) to save her a needle jab.
I'm not sure what was up with the triple posting but I've deleted the two extra posts.
It was Dr. R that came in to talk to me about the study and I did mention to her that I was the one working with you on the local group. It was a very brief meeting but I got a good feeling from her and it'll be nice talking to a doctor who is a real expert on noonan syndrome for once!
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