Today was THE day we've been waiting for (1yr) ... Genetic Testing at UCLA. I meant to get the results out earlier, but I got caught up in work and Verizon (I'll get to that later.)
Anyways. Mom and I were asked a million questions about our background. The professor was very kind and nice we liked him a lot. He had never met an Aicardi Baby before. He said it was a priviledge to meet Lilly. He felt she was "advanced" for her syndrome and looked good. We got the compliment that, because of us, Lilly is who she is and that she is doing so well because of the care she receives. He said God knew what he was doing! (SNIFF)
Back to the results. He said there is a 0% chance that this will happen to us again, but he is factoring in 5%, because of a woman who had 2 Aicardi Babies. SOOOOOO... I from now on am considered a "high risk pregnancy." I am offered "MRI imaging" within the 1st trimester if I become pregnant. The test is so sensitive that it would notice any absense of the corpus collasum in the brain...which would be an indicator that the baby could have Aicardi. Everything else is than up to me and Donnie. He than took a picture of Lilly (so he doesnt forget what she looks like :o) ) and we signed up for genetic testing (research.)
The gene that causes Aicardi Syndrome is still unknown...it's only narrowed down to the area, which is the X Chromosome, hence there are no boys with this disorder. If there are boys they have XXY chromosomes (an extra X chromosome) and have Kleinfelder Syndrome (very rare.) Anyways, they will send us information and they will draw our blood. I figure if we say NO and wouldn't participate it will take even longer to find the gene....and I am hoping before Piper has children (around the time she is 50) they will find the gene. There is a chance she could have an Aicardi Baby as well...it's all in the eggs ...so I have learned today.
The professor gave us encouragement that we are doing all the right things and most of all he gave me and Donnie ..... HOPE!
Now to the reason I didn't get this out earlier. I called Verizon, because I had this insanely large bill. I ended up talking to this nice woman...she sounded my age. Not just did she fix my bill, but for some reason we ended up talking for 45min about our childrens disabilities.
Her son was born with a cleft pallet. It was not noticed during any ultrasound. She was very distraught and upset seeing this little baby boy go through 3 surgeries. I could absolutely relate to her feelings, since we have seen Lilly undergo many medical procedures that can make any grown Marine well up. Her husband and her gave up the thought of having another child, because of how traumatic the first time had been. After 45 minutes of talking and sharing my story..I had given her HOPE. She will now talk to her provider and consider being a high risk pregnancy and have maybe even "Early MRI Imaging" done.
BOY I sure felt good getting off the phone..I kinda felt like asking her for her phone number lol. Bottom line... Professor Martinez gave me and my husband hope today... and I was able to do the same for another person that probably has felt discouraged for a long time.
GOD WORKS IN MYSTERIOUS WAYS!
GOOD NIGHT FOLKS...............
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