[blindkid] Septo-optic dysplasia?

[Rene Harrell]

Hey all,

Some of you on this list might know me fairly well as the mom to Clare, my
10 year old daughter with developmental disabilities who is blind due to
retinopathy of prematurity.

Life has taken a bit of a detour with our most current child, Seraphina,
who was born 25 days ago and is still in the hospital, currently in the
cardiac intensive care unit. Seraphina was born with heterotaxy and other
involved midline defects, including cleft lip and cleft palate. Currently
she has been having a lot of endocrine issues (specifically diabetes
insipidus was diagnosed finally yesterday), which led to an MRI showing she
has an absence of the septum pelludicium. At this point she now has two of
the three markers for Septo-optic dysplasia and ophthalmology is coming for
consult today. She definitely has light perception and I believe she has
already been making eye contact and tracking, so at this point she appears
to have fully normal vision for a 3 week old infant.


I know this is slightly O.T. but right now some of our biggest issues are
balancing the endocrine issues with her cardiac issues (for those that are
interested, she is a single ventricle currently, with hope for an eventual
biventricular repair). I know that SOD frequently comes with endocrine
issues, and I wanted to see if other parents on this list with SOD children
could recommend a good endocrinologist in the New England area, or provide
feedback on what we need to look for in an endocrinologist. This is a
completely unexpected diagnosis and so we are running behind the eight ball
trying to play catch up.

Any help would be greatly appreciated.

Rene--- mom to six amazing wonderkids, including Miss Clare age 10, ROP,
DD, Autism
-- 
" I may not have gone where I intended to go, but I think I have ended up
where I needed to be."
-- Douglas Adams