Sadie's story

Sadie Elizabeth McCann came into the world on April 29, 2010 after an uneventful pregnancy. On June 18, 2010, Sadie was diagnosed with Aicardi Syndrome, a rare genetic disorder.

Most people are not aware of what this means for Sadie. As difficult as it has been for us to come to terms with her diagnosis and prognosis, here is the hard truth...

What is it?

Aicardi syndrome is a rare genetic disorder, with approximately 800 reported cases in the US. Aicardi Syndrome affects only girls, with the rare exception of boys with Klinefelter Syndrome (XXY chromosomes).

Aicardi Syndrome's "classic" markers are:

1. Absence of the corpus callosum, either partial or complete (the corpus callosum is the part of the brain which allows the right side to communicate with the left.) Sadie has complete absence of her corpus callosum.
2. Infantile spasms (a form of seizures). Yes, Sadie has these as well. She has had seizures daily since she was four weeks old.
3. Lesions or "lacunae" of the retina of the eye that are very specific to this disorder. Sadie has a number of lacunae on her right retina. Her left retina contains only a few scars.
4. Other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or porencephalic cysts (a gap in the brain where there should be healthy brain tissue). Sadie has a number of cysts in brain, some brain malformations, as well as a tumor called a choroid plexus papilloma.

What does this mean for Sadie? 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, Sadie is still quite young. Generally-speaking, though, the range of outcomes isn't terribly great.

•Moderate to severe developmental delays
•Eyesight ranging from simply "less acute" to near or even complete blindness. At this point, we believe that Sadie has good vision in her left eye, but likely only light perception in her right eye. She also has a condition called micropthalmia (meaning "small eye") and wears an eye prosthetic called a conformer to allow for the orbit to grow symmetrically.
•Seizures on a regular basis (multiple daily are common)
•Shortened lifespan (median ~18 yrs; average of 10 yrs)

Additional complications can sometimes include:

•Gastrointestinal & feeding issues
•Respiratory problems (Sadie has been in the PICU three times during her life for respiratory viruses.)

It's possible that Sadie will be non-verbal and may require a wheelchair for mobility. While she is currently eating quite well (see Exhibit A :), Aicardi girls have the possibility for regression, which means any achievements could be forgotten (i.e. her ability to eat, hold her head up, etc.) Many girls with Aicardi are fed via feeding tubes.

UPDATES:  Sadie underwent brain surgery at Cleveland Clinic in February 2012 to remove the Right Frontal and Parietal Lobes of her brain. The surgery was performed in the hopes of relieving her from intractable epilepsy.  Her surgery story can be found here.

In August 2012 - doctors found fluid building up in Sadie's brain (hydrocephalus), likely due to scar tissue which had formed after the first surgery. Sadie had to undergo a second brain sugery, a cyst fenestration, to alleviate the pressure caused by the fluid buildup.

November 2012 - Sadie's feeding skills deteriorated over the course of 6 months until a swallow study showed that she was aspirating the majority of her liquids. A feeding tube (G-tube) was placed on November 30, 2012

December 2012 - Hydrocephalus was found requiring placement of a VP shunt on December 27, 2012

What does it mean for Cathy & Adin?

We will continue to have good days and bad days. Sadie's diagnosis has been a good reminder to take things one day at a time, and enjoy life and small achievements. Sadie could 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. While it is heart wrenching to write this post, it is the hard truth and we'd rather be prepared then blindsided.

So, we'll continue to take things one day at a time. We'll continue to do everything we can to maximize Sadie's potential, while not placing limits on it. We'll stay positive and be strong and celebrate all Sadie's accomplishments, no matter how small.