I like to move it move it

We are in for a huge change, our baby girl is on the move.  Sophia started crawling on Monday, June 6th during her occupational therapy visit.  She had been getting up on all fours for about a week and would just rock back and forth.  It looked like she really wanted to go somewhere but she just wasn't sure how to get there.  Well, she finally figured it out and now she is unstoppable.

This video shows how it played out.  Sophia was up on all fours and her OT was trying to entice her with toys.  It definitely worked because she started moving towards the toys.  Luckily I was present and able to catch it on my cell phone camera.  I was so excited about it that I forgot that our video camera was about 3 feet away.  But needless to say this has opened up a whole new world for Sophia.

Attempting to crawl and chew a toy

 She is now able to get to all kinds of toys.  Drew is not so keen on this as she tends to pile all the toys near her and protests when he trys to play with any of them.  This also means that she can touch his things, his chair, his shoes, his toys etc.  However, this seems to have made him much more interested in his little sister.  Previously he would give her a hug and a kiss in the morning but that was about it.  Now he will bring her things or laugh when she gets in a compromising situation.  He now pays attention to her and reports back to us on all of her movements, kinda like a small CIA agent.

Downward facing dog

For a little girl that wasn't supposed to do too much, Sophia sure is surprising us on a daily basis.  We ask for your continued prayers - for her head to grow to a normal size for her age and for her vision to improve.  There are no medical interventions that can improve these things so our hope is for a miracle.  We truly believe that her accomplishments to this point are because of the prayers offered on her behalf.  Thank you all so very much for keeping our little angel in your thoughts & prayers, we will never be able to thank you enough.

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

Sitting Pretty

Sitting during therapy

For several weeks we have been working on getting Sophia to sit independently. It was one of the main things her therapists focused on during our weekly visits. We would support her in different positions encouraging her to use her abdominal and core muscles. She was quite reluctant to sit by herself - she would prefer to be sitting supported, standing (supported of course) or lying on the floor. Well, during her occupational therapy visit on May 19th Sophia started sitting independently. We were sitting on the floor and she was sitting right in front of me. I was supporting her back with my hands and then little by little throughout the visit I moved them away until she was doing it all by herself! It was such a shocker to her and us. There was lots of cheering and clapping. I'm not sure that she really had any clue as to why her therapist and I were so excited.

Waiting at the doctor

I think this was by far the most exciting day that I have had since she was born. For so long we had no expectations for Sophia. We didn't know if she would ever be able to eat, babble, sit up, crawl etc. The other girls with Aicardi are very limited in their abilities so using them as a reference we didn't want to set unrealistic expectations.  Needless to say, we have always been hoping for the best but preparing for the worst. So, for her to be able to do something that I never thought she was going to be able to do was...amazing!  I think that it gave me the realization that great things can happen and that perhaps she can do anything. 

Now that Sophia can sit independently it has opened up a whole new world for her. She loves to sit amongst all of her toys and bang, roll and shake them to her hearts content. She has so much more freedom in her movement and she seems to really enjoy it. It has also given me the ability to put her down for longer periods of time allowing her to play while I change out the laundry, work on fixing dinner or doing household chores. In addition, Drew has taken more of an interest in his baby sister, helping her get toys that roll out of her reach or enticing her with toys that make noise or vibrate.

We are so very lucky to have Sophia in our lives and each little milestone that she achieves is like winning the Boston Marathon for us. We just revel in her accomplishments while remembering to keep pushing her farther to continue developing and learning each day.

Playing at home