[blindkid] septo-optic dysplasia

Leah Pratt Roberts hikingshoes at gmail.com
Fri Jul 20 17:49:59 UTC 2012


Rene,

My son has septo-optic dysplasia, though it appears to be secondary to a
less-known genetic syndrome.

As far as what to look for in a pedi endocrinologist, I would suggest that
the only endocrinologist you should accept is one that says yes, she needs
to have regular monitoring for life of all pituitary-related hormones,
simply because of the existing midline defects (whether or not they
diagnose her with SOD).

Anyone who wants to test once only, or only test until age 3, etc. is
older-school in relation to the possible hormone issues. They can appear
later, can appear suddenly, and can be life-threatening. Now that I've said
that, my son just happens to have never needed any hormone replacement, but
we will do regular testing at intervals that the endo and parents feel
comfortable with.

focusfamilies.org has a lot of outdated info on their website, but they
also have a pretty good listserv and a decent booklet on hormone issues
with SOD. Dr. Mark Borchert at CHLA is the leading ONH/SOD researcher and
has published a number of papers on hormone status and need for monitoring.
His interest is ONH, so if it turns out she has SOD due to another issue
but not ONH, you might find a closer match elsewhere, but it is good to
keep up to date with the papers his lab puts out. His staff will give you
free PDFs of the papers on request.

I hope your family, your new baby, and your medical staff will have all the
support and resources needed. Congratulations on the birth of your daughter!

Leah Roberts
mom to John, 7



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