My pregnancy was completely normal. Great, even. The birth wasn’t too bad, either although it seemed bad at the time, LOL. Jordyn Terra Gomez was born June 16th, 2005 at 5 lbs., 15 oz. and 19.5 inches long. She was even a whole week early, the sweetheart! The first features we noticed were her huge brown eyes and her funny little birthmark on her chest.
It wasn’t until we brought her home when we noticed the strange, small arm-jerking movements she’d have every once in a while. I called the hospital nurses and expressed my concern, but they told me it was “just hiccups” and to not worry so much. I even brought the weird movements up to her (now Ex-) pediatrician who also wrote it off as “nothing”. He said he’d schedule her an EEG test (aka Brain-Wave-a-gram) for my piece of mind, but he dropped the ball and never scheduled it with the hospital for that week like he said he would.
When Jordyn was 12 days old, we visited my sister Dena’s house. By this time, her “hiccups” had increased from one a day to six. After Dena saw her have an episode, she told us we should go to the Children’s Hospital ER, so we did. We were not prepared at all for what was about to unfold.
Once at the Hospital, the doctors immediately rushed her to a room and took her stats and blood levels. We were quickly admitted and over the next 24 hours, they ran a whirl-wind of tests, including the long-awaited EEG, MRI, Lumbar Puncture, X-Rays, everything they could. Jordyn’s room was top-priority for the nurses for the next week and a half.
Our newly appointed Neurologist, Dr. Kane, gave us the horrible, complicated news about our 2 week old daughter:
“Jordyn may have a rare neurological disorder called Aicardi Syndrome. She has Agenesis of the Corpus Callosum (“ACC”; the absence of the bridge that connects the left and right hemispheres of the brain), Cysts in the left temporal lobe, and Infantile Spasms (seizures). We are having an Ophthalmologist come in to confirm it, because you have to have retinal lesions to be fully diagnosed with it.”
You can imagine our disbelief and worry. As if that’s bad enough news, we also learned there’s only 500 cases WORLDWIDE and the disorder only occurs in females. There’s also a poor life expectancy.
The eye doctor didn’t find any lesions in her eyes (just bad vision), but there are a few other cases of Aicardi patients that involve no lesions. Jordyn is the rarest of the rare.
Fast forward to now:
As far as life expectancy, her case is more promising than the typical one. Most Aicardi girls need feeding tubes and are extremely non-responsive to anything. Jordyn was a great eater, whether it was breast, bottle, or spoon. Her development is severely delayed, but we think it’s mainly because of all the harsh medicines she’s had to have over the past year. She has 6 doctors, 4 therapists (OT, PT, ST, and vision teacher), and 2 very devoted parents who’ll do anything to help our Shabootie-Toots. In fact, John recently produced and directed a Benefit Show in her honor to raise money for her new medicine. (Read the blog about it!) The show really helped us start out the new treatment. It is not FDA approved, so it's pretty costly to order it from Canada. It’s worth her not having seizures! So far, so good! I’ll keep you updated.
Thank you so much for your thought and prayers!
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