That's My Girl

At the recommendation of several of Sophia's specialists we took Sophia to see a geneticst.  We chose to go to Houston and see a geneticist who is heavily involved in Aircardi research and treats several of the Aicardi girls.  It took us almost 3 months to get an appointment, but on May 26th we were able to meet with him.  It was such a good visit for us.

The morning of our visit

Our visit started as so many others have, providing a complete medical history from Rusty & I.  Except this time we were asked to provide the medical history of our family as far back as we knew.  Luckily I am very inquisitive about our family's medical issues and was able to provide a pretty detailed history.  The doctor then talked with us about Sophia's medical history.  For such a little girl she sure does have an extensive and complicated medical history.  We had all of Sophia's doctors send their reports, test results and images to the geneticist for his review.  He had thoroughly looked over the records and was able to talk to us about what he gathered from his reading and what he would like to do to proceed from now on.

He also did a very thorough physical exam on Sophia.  He counted her fingers and toes, looked between them to make sure there was no webbing, checked her from head to toe & front to back to make sure there were no obvious or hidden deformities.  He also weighed & measured Sophia. 

After all this he gave us some great news.  While Sophia does most likely have Aicardi, he said that Sophia is by far the best Aicardi girl he has ever seen.  During our visit Sophia was sitting on the floor playing with her toys and babbling to herself.  He said that the majority of his girls don't sit independently and the fact that she was babbling at her age was such a positive sign.  He went on to say that he believes that Sophia will continue with our help, the help of therapy, and those who help in her care, to continue developing as normally as possible.  He did recommend that we have her neuro ophthalmologist take pictures of her retinas, do further genetic testing and enroll her in a study for Aicardi at the Baylor College of Medicine in Houston (which we did).  We are currently waiting for an appointment for Sophia to have her retinal pictures taken, this requires her to undergo general anesthesia in an OR setting & also for the further genetic testing - insurance is the hold up there.

Having said all this, I was so happy and kept thinking, "That's MY Girl!"

If you are interested, here is a link to the study we enrolled Sophia in:
http://www.bcm.edu/genetics/vandenveyver/index.cfm?pmid=6931http://www.bcm.edu/genetics/vandenveyver/index.cfm?pmid=6931