what is it?
In general, more detailed information may be found on, or linked to from, the Wikipedia page on Aicardi Syndrome (of which Daniel has been a recent active editor, and plans to continue to expand it), or see the Aicardi Syndrome Foundation.
In brief, though...
Aicardi syndrome is a rare genetic disorder, with about 500 reported cases worldwide. It's Daniel's own personal theory that it may be a bit more prevalent, going un- or mis-diagnosed in more developing countries. In any event, in almost all cases, it affects only girls, except for a very few known cases of boys with an additional genetic disorder that gives them an extra "X" chromosome.
At this time, a specific gene or chromosome has not been isolated. This means both that it cannot be tested for, and that it is a "clinical" diagnosis; a recognition of outward signs or symptoms. Aicardi Syndrome's "classic" markers are:
- Agenesis of the corpus callosum (ACC), partial or complete - the failure of the thin band of tissue connecting left brain and right to form, or form only partially
- Lacunae (lesions) of the retina
- "Infantile spasms", or basically, seizures
It also commonly includes symptoms such as cysts in the brain, other defects of the eye, and similar related issues.
what does it mean for evelyn?
Or in medical terms - "What's the prognosis?"
At this point, it's very hard to say - as the old saying goes, "time will tell". Symptoms don't usually become pronounced until several months of age, and as of this writing, Evelyn is still quite young. Generally-speaking, though, the range out outcomes isn't terribly great, but it is also highly variable.
- Moderate to severe developmental delays
- Eyesight ranging from simply "less acute" to near or even complete blindness
- Seizures on a regular basis (multiple daily are common)
- Shortened lifespan (median ~18 yrs; average of &10)
- Scoliosis
- Gastrointestinal & feeding issues
- Respiratory problems
As you might figure, getting a diagnosis with any one of the above symptoms or outcomes as a new parent is enough to send you off the ledge; let alone all of them together! We certainly had our time of that, and we're also sure that we're not through - we will continue to have our "up" days and "down".
Largely, though, it's just a fine reminder to take things a day at a time. Evelyn could come and surprise us all, or things might go exactly according to "average prognosis". The doctors might end up dead wrong on their diagnosis, or they might end up being exactly right.
So in the end, for us, we need the same basic things pretty much any parent does:
- Take things one day at a time.
- Be ready and prepared to provide for your child's needs...
- ... While at the same time not placing limits on them.
- Stay positive.
- Be strong.
And of course, being able to boil it down and oversimplify it doesn't make it any easier to do. But, hey - it's a start. :-)
