Sophia

Sophia is now 9 months old...wow where did the time go?...update on her...I have had a lot of people ask about her diagnosis...She was diagnosed with Oculocutaneous albinism since some of you may be very unfamiliar with this the following is the definition. It includes hypopigmentation of the skin, hair and eyes (light skin, hair and yes, blonde, and blue to be more precise), nystagmus (involuntary eye movement shifting back and forth horizontally) what led her to get this diagnosis...photophobia (doesn't like light, sunlight yattah yattah yattah) decreased visual acuity, and defects at the optic chiasm.) Menaing she will have issues with her eye sight. That is the biggest issue she will deal with she could be diagnosed as legally blind at some point but we won't know for a while. So...we were referred to Early Intervention Services here in Nevada where today she was evaluated...she is reaching all of her milestones but because of her diagnosis automatically qualifies for "intervention" the vision specialist did say her pheriphial (sorry I know I spelt that wrong and to lazy to look it up) vision is off and that her rolling into things (she has brusies on her head to prove it LOL) is because of that. So she will be coming twice a month to work with me and her more to educate me on the "macula" of the eye because the opthomologist noted that it is "poorly defined" which apparently can cause seeing detail issues etc..the genetist that diagnosed her didnt' think glasses were necessary yet until she starts walking but the vision specialist disagrees and thinks she needs them now. So back to the opthomologist (which needed to be done anyway....he was just waiting to she if she had albinism). And she does...sooo that is it in a nutshell...I think she is seeing well..she grasps with a pincer grasp...she focuses on objects and reaches them just fine..she sees colors etc...but we want interventions in place so that when she does enter school she has what she needs to get the best education possible..

So her milestones are great...she still doesn't have teeth but we believe she will have some soon. She is rolling everywhere and does the army crawl and gets on her hands and knees and rocks back and forth she has crawled a couple "steps" so it won't be long...she is starting to pull herself up on things but doesn't quite make it to her feet alone...she babbles all the time...she tries to sing when she hears music and likes to bounce to music...she has got a contagious laugh and a little "giggle" that we catch her using all the time when she sees or finds something she likes. She loves her brother and sisters and kisses them and they LOVE that...well...that is an update on Sophia...