So I'm on Facebook, and I browse the posts in the Moebius Moms group and one catches my eye.  It's by a mom we met in 2012 at the conference.  Their little girls is the same age as Emma and we had dinner with them there.

They have been at the National Institute of Health this week as part of a details study on the genetics of Moebius.  People are invited and get 5 days of intense testing etc to try and locate any genetic indicators.

In her post she says:
Today at NIH we learned that our daughter does not have Moebius, but an even rarer genetic disease called Carey Fineman Ziter syndrome. A little overwhelming since her birth we thought she had Moebius. One thing that they found is that even though she has the facial palsy she actually has all of her cranial nerves intact.

My mind is blown.

"Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay."

We know Emma has the Moebius sequence, but she also has the two underlined features of Pierre Robin sequence.  I've seen people mention it before but never looked it up, assuming that the doctors would have said something!

I immediately fired off an email to Emma's cranio-facial doctor asking about it, and also how we could find out if her nerves are intact.  His response was disappointing:
I am not familiar with this particular condition. I would think it would have come up had our geneticists felt it a possibility. Cranial nerve palsies are diagnosed based on clinical presentation. In other words each nerve has a function and if you test  that function and it is normal the nerve is not considered affected.

Seriously?  IT IS VERY RARE!! Maybe they haven't heard of it!!  Ugh.

It won't stop here.  I will now be fighting to find out if there's something more to Emma's condition, so that we can learn more about the future, but also what interventions are possible.

I have to stop accepting the word of one doctor as the absolute truth.  Maybe it's even time for some second opinions.  Not a fight was planning on starting, but hey, why not!