Monday, August 23, 2010

What does it mean for Sadie? The hard truth and the possibilities.

Most people are aware that Sadie has been diagnosed with Aicardi Syndrome. However, 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.
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 cysts in brain 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 will have good vision in her left eye, but may not have vision in her right.
•Seizures on a regular basis (multiple daily are common)
•Shortened lifespan (median ~18 yrs; average of &10)

Additional complications can sometimes include:

•Gastrointestinal & feeding issues
•Respiratory problems

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.

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 a 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 heartwrenching 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.

P.S. Thanks to Daniel and Kim - another family who is blogging about their daughter Evelyn's experience with Aicardi Syndrome, from whom we borrowed for the format for this post. Click here to read their blog:


  1. My God bless your family

  2. I was introduced to your blog and Sadie's story for the first time today. We will covenant to keep the three of you in our constant prayers for strength and patience and understanding. May the love and care of friends, close and far away, strengthen and sustain you.

  3. Sadie is so very fortunate to have two amazing parents! Our thoughts and prayers are with you all.

  4. She is such a beautiful little girl. Parenting is hard for anyone, but you've been dealt an especially difficult task. Stay positive and hope for the best.

  5. i think of you all so often...sending love, prayers and thoughts your way. xoxoxoxoxo

  6. Dear Cathy,
    Susan Z just sent me this link. Sadie is an absolute doll. All three of you will be in our hearts and prayers.
    With warm wishes to you,
    Diane Timmerman

  7. Dear Cathy,

    Thank you for sharing the blog with all of us and with me in particular. The depth of your love and strength are amazing.