
Sunday, February 26, 2006
Our visit to Toronto and two visits from Pepe Le Pew

Tuesday, February 14, 2006
Doctor, doctor, gimme the news...over the phone next time, will ya?
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.
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.
Wednesday, February 08, 2006
The dreadful irony of Sylvie wearing a sleeper with the words "if they could just stay little" written all over it
I haven't been blogging my usual amount because Sylvie hasn't been taking her usual naps. Lately she's only been going down for one long nap in the afternoon and also since Theron's contract ended he's been on the computer most of the time he's home trying to find a full time job. I just don't get as much of a chance to get on myself anymore. But since Sylvie is asleep right now and Theron is out running errands it's alllll mine, bwa-ha-ha!
We FINALLY heard from Early Intervention; in fact our PT is supposed to come by today at 4:30. I'd called her and left a message yesterday morning and when I didn't hear back I called the director and left her a message this morning and our assigned PT either heard from above to contact us or just got around to checking her messages. I guess we'll see how today goes. I'm very much hoping that Sylvie's gross motor skills will get back on target with this therapy. I know al kids develop at their own rate but it's hard seeing babies 2+ months younger than her who are walking around when she's not even crawling.
Sylvie had stomach bug this past Friday night/Saturday morning. I've been more than a little nervous about maintaining her hydration but she seems to be ok. We've been struggling to get her to eat more since she pretty much only had breastmilk for a day and a half, then she'd take yogurt, maybe 2oz at a time and finally she's started back on dinners, but she'll still only take 1.5-2oz at a time of them. So much for increasing her calorie intake. We're supposed to go see the nutritionist again tomorrow. I'm so afraid that she and the GI are going to insist that Sylvie needs a gtube. If she really does, then of course we'll do it but I so hope to avoid having to go that route. At our GI appointment last week, the doctor expressed concern that Sylvie's weight had not appreciably changed since she saw her a month prior and did mention the possibility of needing a gtube. However, she wasn't pushing for it just yet, so there is hope we won't have to use one. But Sylvie having been sick twice now obviously isn't helping her gain weight.
What's really scary is that before Sylvie was sick the first time, she was eating A LOT and still her weight gain was slowing. Now that she's been sick twice and is eating so much less...It just makes me feel so damn helpless.
Friday, February 03, 2006
Rockin' Out

Subscribe to:
Posts (Atom)