Aicardi Syndrome

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I have a question for the Pedi nurses. I'm a nursing student, and I just did my Pedi rotation last semester. My best friend had her second baby June 9, and last week the baby was diagnosed with Aicardi Syndrome, so she came to me for help looking up any information I could get my hands on. Has anyone here seen a baby with this? She has been online looking up information and her doctor hasn't given her much to look forward to. In fact, from what she has said about him, he doesn't seem to know much about it himself, and has referred her to another doctor that she hasn't seen yet. She was told that they won't know the extent of how bad this is going to be until the baby is older. I've looked up information, but I'd like to see if anyone has had any personal experience taking care of a baby with this. From what I have found online, babies aren't usually diagnosed until they are closer to 5 months, so being diagnosed at one week can't be a good sign.

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Just wanted to wish your friend well. If you've been researching a lot, you probably know that there are only about 300-500 cases of Aicardi syndrome that have diagnosed in the world, so it's not a reflection of a bad doctor. It's just rare stuff. I know I have never seen a case personally.

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I did see how rare it was, and the cases I've read about don't have the happiest endings. Right now the baby has been seizing 5 to 10 times a day, and is on phenobarbital. Until she can see the specialist, there isn't anything more they can do for her, and after that, I don't know what they can do. She did go home for the first time yesterday, but my friend is absolutely terrified of the seizures, which I can completely understand.

I'll keep looking but I don't think I'm going to find anything good. The best we can pray for is that she is on the milder end.

Thanks :)

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When I looked it up on NORD I found a name I was more familiar with: Agenesis of Corpus Callosum. I've actually taken care of a 2-3 kids with ACC, all had different levels of disability because they all had additional defects.

It may very well be that the doctors won't know more about what the future will bring, can be very difficult to discuss the prognosis in anything other than in generalizatins in such a young infant.

There are several treatment options for seizures once the baby is older.

NINDS has links to some organization and parent groups. http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm

And so does NORD http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aicardi%20Syndrome

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Oh, I did a little more poking.

The Google Health http://directory.google.com/Top/Health/Conditions_and_Diseases/Rare_Disorders/ has a listing for Aicardi Syndrome. If you click on it they have list of (8) information and support links including some personal stories.

NINDS also has an entry on seizures with additional links that may have some info to help her cope: http://www.ninds.nih.gov/disorders/epilepsy/epilepsy.htm

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HI I am a RN in Sydney Australia. I know a little girl with Aicardi syndrome. Shes 6 years old now, ive known her since she was 3. Her seizures are still pretty regular (daily). Shes very happy natured, all smiles but of course very disabled. Was diagnosed when she was 6 months old.

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Specializes in Med Surg, Nursing Education.

Hello, I am a Home nurse for a toddler with aicardi syndrome, I pray the best for your friend.

Sharon

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Thank you all for the replies! I've forwarded all the information on to my friend as its come up. She spends a lot of time doing her own research, but I know she's saved everything I've sent to her.

Well, they finally went home, again. Her baby is 16 weeks old now. She is still very uncomfortable with handling the seizures, which the baby still has multiple times daily, and quit her job to stay home with her since she doesn't even want to attempt to put her in a daycare. They still don't know what the extent of her disabilities will be, but they are telling her not to expect too much. I've seen her a few times and she is just beautiful, but she doesn't smile or interact with you when you play with her, and she just has this distant look, all the time. What's really heartbreaking is she has a 3 year old sister that is dying to play with her and can't, and of course she doesn't understand why. But when anyone visits, she wants everybody to see "her baby."

Thanks again for the information... anything and everything is definitely appreciated!

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