5:30 PM here

Here's what was said at our dr. appt. Our Neuro spoke with the neuro at Mayo, and was of 1:00 was still playing phone tag with the NS in Boston. BUT, the Mayo dr. said at very least Angela needs a couple more test done which goes along with what Dr. Scott said. She's now being schedule at Mayo for a PET scan. This is next in the "least invasive first" process. They'll read the PET scan right then and to the arteriogram while we're there if it's decided she needs one. One problem, on Friday we started her on aspirin therapy and she's supposed to be off that for 10 days before they can do it, BUT the Mayo guy is leaving on vacation and he wants this done before he goes. So, we'll see what he says. I'll know by tomorrow afternoon what we're doing.

Another thing was everyone wants hip films done to rule out orthopedic problems causing the gait issues. Our neuro is confident they are neurologically based, because her gait today is MUCH better than it was on Friday. Fluctuating gait is usually a neuro problem, not ortho. But since nobody ELSE has seen her walk (like the other 2 neuros) he wanted those done. We did them today before we left, and will have those results back in the morning.

I also to him about Dr. Steinberg at Stanford, and that I'd heard he had another procedure developed, and gave him the contact information. He's getting in touch with him as well.

One thing that he mentioned is that Angel hasn't had any major strokes yet. I told him Dr. Scott send me a copy of a paper he published last year that said in the 16 patients with DS that he treated over several years, only a couple had strokes. The rest had only TIA's similar to Angela's.

Speaking of that study. Our neuro has always wondered if all kids with DS have some narrowing of their carotid arteries. Dr. Scott's paper says:

Down syndrome may, through its constellation of
associated systemic manifestations, expose patients
to the cumulative effects of other associated risk
factors for moyamoya syndrome and thereby increase
the patients’ susceptibility to the disease. It
has already been noted that certain clinical conditions
are associated with moyamoya syndrome independent
of Down syndrome, including congenital
heart defects,21 autoimmune disorders of the thyroid,
23,27,28,46 and head and neck irradiation.11,25,33,37
Two of our patients with Down syndrome developed
acute lymphocytic leukemia before the onset of clinical
symptoms attributable to moyamoya syndrome;
the incidence of leukemia in Down syndrome is 10-
to 20-fold that in the general population.58,59 Both
patients received systemic and intrathecal chemotherapy
as part of their treatment protocol, and 1
patient received a course of cranial radiotherapy.
How these clinical associations independently affect
the risk for developing moyamoya syndrome among
children with Down syndrome is unknown. However,
given the risk of significant strokes among patients
with moyamoya syndrome, coupled with the
effectiveness of treatment if it is instituted before
debilitating strokes occur, we suggest that prophylactic
screening of patients with Down syndrome for
moyamoya syndrome with MRI/MRA may be useful.
A similar strategy to screen for moyamoya syndrome
among patients with sickle cell disease has
been advocated by some. Additional study of the
cost-effectiveness of this strategy may be warranted......

The association of Down syndrome with moyamoya
syndrome is still not understood. The fact that
so many children with Down syndrome have cardiac
structural anomalies suggests that the genetic defect
in Down syndrome may also lead to disturbances in
the formation or growth of vascular structures elsewhere
the body. Patients with Down syndrome have
been noted to have an increased number of retinal
vessels, compared with gender- and age-matched
normal control subjects. These vessel are said to have
a “spoke-like” pattern, with frequent early branching,
and this observation lends support to the postulate
that there is a general vascular dysplasia in
Down syndrome.55 Other vascular abnormalities described
in Down syndrome include abnormal nailbed
capillary loops and renovascular hypertension.56
Neuropathologic investigation of a child with Down
syndrome who did not have moyamoya syndrome
revealed significant structural abnormalities in vessels
of the circle of Willis, ie, irregular internal elastic
membrane surrounding regions of marked endothelial
hyperplasia, which again suggests a possible underlying
structural change in the cerebral arteries of
children with moyamoya syndrome and Down syndrome.

And so we wait to hear from Mayo.