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Wednesday, August 22, 2012

A Day of Appointments

We were at the hospital/clinic all day today. Belalu had six appointments (!) to get through and managed to do it without getting too fussy. Most of them were NICU follow-up visits. One of these days soon I need to start from the beginning and talk about all the drama and excitement we've had with this little miss from, well, basically conception. But for tonight, I'll just explain that we were in the NICU for the first 10 days of her life because of neo-natal seizures. I like lists, so I'm going to do a list run-down of the days' appointments.

  • Neuroscience: We weaned Belalu off her seizure medication by the time she was two months old and she's had no seizure activity since the NICU. Now, the Dr. explained, she is basically watching her physical and mental development. No concerns there. She wants to see her again in six months.
  • Physical Therapy: As always, she had Belalu do a bunch of activities while she scored her. The baseline score for her age was an 83, and she was over a 100 in each, so no worries there. She said she expects her to start walking any day (yes, we've been thinking that for months). Since we see a PT and OT every other week at home, she said we needn't come back until she's 3 years old.
  • Nutritionist: She didn't even know Belalu had hypochondroplasia, so was completely unprepared. We asked about the conversation we had in Spain with the family of N, who has achondroplasia. They had told us she was not supposed to eat red meat because the protein could be too much for her already-muscular arms and legs. The nutritionist told us that didn't make a lot of sense science-wise and since we eat very healthfully already, she wasn't concerned at this time with Belalu's diet. 
  • Someone else: She took Belalu's footprints and mounted them on some nice paper for us and told us about her office's services that provide comfort and/or distractions for kids undergoing treatments, getting blood drawn, etc. She was nice, but her suggestion for them to do an ECG while she was napping did not get us extra lunch time, as we had hoped. In fact, instead of getting out at noon, we got out at 12:30 and had to be at the next appt at 1pm. They did not push back the 1 pm appt as she had said they would, so we ended up with a half hour for lunch and another half hour between the last two appointments that was just waiting around in a consultation room. 
  • Cardiology: Belalu had some irregularities with her heart when she was born, which didn't shown up again at her 6-month ECG, but at that time some "slow beats" appeared that made the Dr. want to do a follow-up at one year. She'll be wearing a monitor for 24 hours later this week to check this out again. She told us that she didn't have reason to believe that any of this was related to her hypo diagnosis. At this time, she has no issues with her chest cavity and organ placement.
  • Geneticist: This was interesting, as always. This time, she brought up an endocrinologist and said she thought Belalu should see someone to have a baseline of measurements. She also brought up the possibility of GH therapy, which she had said was not a possibility last time. She referred to the study that we've talked about, but did say that the people getting GH treatment in that study have a different mutation of hypo than Belalu's. We talked very briefly about limb-lengthening, but she said that she didn't think that her disproportion or her height would be extreme enough that we'd be interested, but that we'd see with time what our family decided in that regard. They used the AH growth chart rather than the acon chart to plot her measurements. Since she knew we were going to see Dr. Pauli in October, she just kept deferring to him and told us to ask him such and such, check with him about that, etc. So, we left it that we'd go see Dr. Pauli in Oct and then later that same week we'd go see an endo and an ortho at our regular clinic. I forget when she said we'd see her again.
I left Belalu's measurements upstairs and I'm heading to bed, so I'll post those tomorrow. All I remember now is that she grew 2 lbs and 2 cm in the past three months.

1 comment:

  1. Hi,
    Fi is the same with her walking, she has been cruising for ever, since she was 9 months or so and she is nearly 15 now. She is now starting to let go and stand for a minute or so. I think in Fi's case she is super cautious and I really don't mind, her head is that much larger that it takes a LOT to balance it... I don't think it really matters when they walk in this age range, they are mobile enough.
    What mutation does she have? Interesting that your geneticist was knowledgeable enough to bring up this recent study. I have no doubt that you will find Dr Pauli extremely helpful!!!