Friday, April 25, 2008


Thank God its Friday....and my surgery is over. Let the weekend begin.
My day started last Monday (4/14). I was admitted to CHOP for some testing because I was on oxygen for 2 weeks. About a month ago, I turned blue on mom a couple of times and we went to the local hospital where they sent me home with o2, hoping mom could wean me off of it. 2 weeks later my pediatrician said that it was important to get to the bottom of it.. so I came to CHOP to be admitted by Pulmonary. The did all sorts of tests again. I kept passing them, until they gave me a milk test. I am a big fan of the cow, and its not like I am pro-chicken vs pro-cow,..but for the love of dairy, the milk was getting into my airway path. In addition to that, I was having reflux and its hard for me to swallow at times. The area was irritated and it was hard for me to breathe at times. So they put this NG tube up my nose, and it went down to my tummy. The nurses fed me formula this way for a little while until the doctor can hook me up with the Tube Master Gee. aka "G tube". This was a job for surgery at CHOP. They are the masters of this procedure, so I am told. So mom, dad, and me wait to hear when the sugery takes place. and we wait, and wait, and wait and I have been in the hospital for 10 days...meanwhile Mom needs get a procedure done before she goes back to work, Dad's business needs him (and I need him to keep his business): he had to cancel a business trip, and my 3 brothers have lots of activities going on at home... my Grandmothers are taking care of my brothers when my parents are with me, and my Aunts will sit with me when my parents are with my brothers. I told you I am a rare girl, I have been blessed with a great family. Surgery FINALLY they told my parents when the surgery was....Friday. Mom's procedure went well, Dad's work still needs to get caught up but he was here all day for my surgery... I AM Daddy's girl ya know ;)
My oldest brother is hitting doubles in baseball, and my other brothers are so funny. My parents are trying to keep life "normal" as much as possible. I am sleeping and taking it easy here, because I can't wait to get back home where I belong. All the doctors say "She looks really good" about me...of course I do, I take after my Aunt ;)

Wednesday, April 23, 2008

Aicardi Syndrome

A googling away we went. This is what we found on Aicardi Syndrome:

Aicardi syndrome only affects females, and in very rare cases, males with Klinefelter syndrome (XXY). It is theorized to result from a defect on an x-chromosome, though until the gene is found, this cannot be confirmed. There is only one case of siblings with the syndrome reported upon in the literature, suggesting that almost all cases are new mutations and other family members do not carry the defective gene.
Children are most commonly identified with Aicardi Syndrome before the age of five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The known age range of affected children is from birth to the late forties.
Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies. Almost all experience developmental delays, with the majority facing moderate to severe mental retardation.
Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965. The number of identified cases of children with Aicardi syndrome is very difficult to calculate accurately, but has been estimated at 300 - 500 worldwide.
So.. I am a rare girl here on earth.... thats what it reads. As long as my parents are cool with it, then I will be cool with it.
I have to say, my parents are the best parents in the world! They accepted me and my syndrome with loving arms. God knew what he was doing when he made me part of their family. My mission here on earth is to be an example of Love.

The day I was born....

It was a warmer day than usual for January, but Mom had to be scheduled to bring me into this earth. I was born in the afternoon, of course I had to be a little reluctantly to come out. It was warm for January, but still..its January in the Mid-Atlantic! I thought it was pretty cool because I was born where my mom is a nurse. All her friends wanted to hold me, and shower me with lots of gifts. I received lots of pink things! Now it was at the point where I received a pretty pink warm blanket that I thought... hmmm, its not soo bad out here afterall. I couldn't quite open my eyes, but I heard my mom and dad's voices... you can't mistake my Dad's voice...its soo masculine with a deep tone. Mom had her story telling voice on... she loves to tell the stories...and I like to listen! we are a good team.
My brothers came in the next day. I have three of them, the 2 younger ones kept climbing onto Mom, where my oldest brother was very gentle with me, and he gave me many kisses. I thought it was time to go home, and then Mom got nervous because she saw me turn blue. I went to the NICU soon after, Mom went home. But I stayed....but they kept bringing me more pink gifts, so it wasn't soo bad. I missed my Mom's voice, but she came back for me to feed me. And soon I went home.
Before I was born, Mom knew something wasn't right when carrying me in her tummy. She talked to many doctors, and then went to CHOP's Fetal Diagnosis and Treatment center. That is where they did all these tests on me & mom (she didn't like the tests), but then one of the doctors broke the news to my mom & dad that I have Aicardi Syndrome. What? Bacardi run home??? I couldn't quite hear what the doc was saying, but I felt the movement of mom...and what ever he said upset her. Dad's voice got even deeper than I ever heard him. But I had a long day with all these tests, and I can wait til they get home to google what ever the doc called it.
I still had about 3 months to arrive for my Birthday. I can wait it out.