A week in review
9 June 2006 | jack | No Comments
Let’s see, in order. EI, went great. Sue was who came. She is so wonderful, and exactly who I need. She’s just watching Jack, waiting for him to mess up, J/K, fall behind. So far so good. She coming once a month untill that happens.
The mold appointment went great, here is a picture of it. But before that we took the kids too meet LeAnn, the “Queen of the Cleft Palete team”, and she talked to the kids about Jack surgery and showed us the Logan’s Bow, which isn’t an “X” but, as LeAnn calls it, a baby roll bar. It’s hard to explain I’ll post pictures when the time comes. And we learned a little more about the prosthesis. Anyway, Jack did amazing during the mold, I think he actually liked it! Even the DR was amazed how calm he was. You can see in the picture, taken a minute after, I think he enjoyed having all his holes filled in!!
Then I had my app. It’s still a little high, and I’m alot low, so she ordered an ultrasound and happy pills. I don’t have the results on either but I’ll keep you posted.
Then the ortho clinic was great. The Dr. said his back (scoliosis) looked better than he imaginged it looking, and his hips looked OK, at least not a socket problem, but he wants to see an xray, and his wrists, he feels are part of the Poland’s Syndrome. Have I told you about that? opps. The genetic report came back and one new thing we learned was Poland’s Syndrome. Jack has a mild case, but that’s probably cuz of all his other issues. But, at least Poland’s Syndrome clumps a few together.
Also, we heard back from the Carter’s Center. He definatly doesn’t have HPE. Which means he has nothing life threatening! YAY!!! But what he does have is holodiencephaly. So what do you do when you want to learn more about something. Yep! I googled it, this is what I found. 4 hits!!! Two are about/by a family with a little girl named Corrine, the other two a girl named Ali. Here’s the kicker, I’ve already cooresponded with Corrine’s mom, and she told me about Ali. Ha! crazy.
But here’s what Nancy Clegg, from the Carter Center, told us about it.
Holodiencephaly is a condition similar to holoprosencephaly, and is
commonly misdiagnosed as such. The diencephalon is the midbrain,
containing the hypothalamus, which regulates appetite, sleep, and body
temperature (the behaviours of Prader Willi Syndrome are related to
hypothalamic abnormalities); the thalamus, which regulates sensory
processing (except for smell), arousal and motor control; and the
epithalamus, which connects the limbic system (regulates emotions,
contains thalamus and some other things) to the rest of the brain.
Therefore, holodiencephaly is when the diencephalon is fused rather than
divided into lobes.
So now what? Here we go again. But she did say that the area of the brain the affects motor is unaffected. And the area for smell is abnormal, so he may not smell. Which of course means not taste either. At first thought, this seems like a dream for a parent. But Nick won’t eat things that look gross, even if it’s a dessert made from melted and refrozen icecream with cookies in it. So that elation went right out the window.
Anyway, here’s is the rest of the report if your interested. Most of it’s foreign, but you can google it just as well as I can. 
IMPRESSION: NOT HPE. ASP, colpocephaly, dysplastic tectum, holodiencephaly, aqueductal stenosis
FINDINGS-
HYPOTHALAMUS: Cannot assess
CAUDATES: 0 (striatal malformation, ipsilateral fusion)
LENTIFORM NUCLEI: 0 (striatal malformation, ipsilateral fusion)
THALAMI: 2 large massa intermedia
THALAMIC ORIENTATION: Not Assessed
MESENCEPHALON: 1
HEMISPHERIC FUSION: Absent
CORPUS CALLOSUM: Present- thin anterior
CORTICAL MALFORMATION: Absent
FALX: Present- posterior
PITUITARY: Cannot assess
ORBITS: Hypertelorism
OPTIC CHIASM: Cannot assess
OLFACTORY SULCI: Dysgenetic
OLFACTORY BULBS: Dysgenetic
SYLVIAN FISSURES: ANGLE:
ANTERIOR OPERCULUM: Intact
POSTERIOR OPERCULUM: Intact
VESSELS: 1
MYELIN: Delayed
VENTRICULAR SYSTEM: large 3rd ventricle
DORSAL CYST: Absent
NOTES: Premaxillary Cleft
The stuff that says, “Cannot assess”, is because of the fluid still. But originally, Dr Carey said, he didn’t think there were problems with his pituitary, for other reasons, so I guess, again, we’ll wait and see!
Anyway, she also told me that he appears to be out of the woods for seisures, but yesterday, he started this strange tremor like thing. I think it’s starting in his trunk, but it makes his head shake, kind of Katherine Hepburn like, but “faster” if you will. IDK, I took him to see Dr W. and he’d like an EEG. *sigh* another appointment at PCMC. *sigh* At least the food’s good. And every Tuesday for the next few weeks they are having a BBQ on the patio. Rice crispy treats are part of the meal. I can’t wait!!! )
So 4 turned into 7. I’m tired. Next week is the surgery to place the prosthesis. They say we’ll be in and out, but I’m going ready to stay. It’s Tuesday, so watch for updates.
Oh… I didn’t get a picture today, Jack’s 3 month Birthday, he’s not been himself, sleeping alot or fussy, I’ll try tomorrow. Wish me luck! Got it just now!!! But to get the full effect, start at the begininng! So fun!!! Here they are!
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