This blog is dedicated to differently-abled children, particularly those diagnosed with a radial ray defect, hematological issues, Failure to Thrive, developmental delays, microcephaly, cerebellar dysgenesis or cerebral palsy.

Sunday, November 30, 2008

Evidence of trigeminal anesthesia?

Paul and I have noticed that Emma is propping her head up in the Pack 'n Play by resting her face against the mesh sides.

I'm sure this helps her watch TV; she will stay like this for long periods of time. We've found her asleep with her face pressed against the side more than once. It causes her little nose and chin to be very red and irritated. It makes me wonder if her ability to feel sensation in her face is at least slightly compromised.

Dr. Paley is leaving the Rubin Institute!

We got a letter recently from the Rubin Institute to inform us that Dr. Paley is leaving! Emma was scheduled to undergo surgery on her arms in June 2009, so what does this mean for her?

I suppose the best thing for me to do would be to email Dr. Paley about this and ask him. But this will almost certainly delay Emma's surgery.

Saturday, November 22, 2008

One in a trillion

Brief updates on medical stuff....and commentary.

Our last visit with Emma's neurologist, Dr. Imbus, yielded very little new information. We talked about the new (tentative) diagnosis - GLH Syndrome - and he re-iterated that she fit the profile, aside from the fact that we haven't seen any evidence of trigeminal anesthesia. But a couple of GLH people in the literature did not exhibit this characteristic, either.

He measured her head, still at 45 cm....she's still in the microcephalic range, below 2 standard deviations.

Dr. Imbus thinks that Dr. Mark Krieger should revisit the possibility that Emma has craniosynostosis - both coronal and lambdoidal.

And, quite casually, after I asked a question about whether Emma fit into the category of cerebral palsy, he glanced at one of the papers in her chart and noticed that he had already entered the following diagnosis: infantile cerebral palsy.

Well, the "up" side of this, if there is any such thing, is that this puts Emma in one of four categories of kids that California Regional Centers must continue to take care of after the age of three. Which will be good for Emma.

I do pray that Emma will someday sit, stand, and walk on her own, though! She wants to SO badly! Lately she asks to be in the walker almost constantly....she longs to be mobile like her brother Matthew.

We've also seen Dr. Roberts recently, and she concurs with the GLH diagnosis as well. Emma will be getting blood drawn (FINALLY) at CHLA on December 1st for that German research group (Klopocki, Mundlos, et al). I'm quite excited about finding out if her DNA characteristics are the same as the other TAR Syndrome patients or if there is something profoundly different about Emma.

She is such a special little every way! Medically speaking, Dr. Roberts says that Emma may literally be one in a billion. I think she's one in a trillion myself: in personality, in sheer penetrating intelligence, in her sweet loving and lovable little self.

Emma is an amazing gift to our family....thank you, Lord, for entrusting her to us!

Saturday, November 1, 2008

A couple of adorable Trick-or-Treaters!!

Princess Emma:

and her big brother Matthew as the engineer for Thomas the Tank Engine:

Setting off in the dusk to visit the neighbors and get LOTS of candy!