Redefining Rare

Sadie snoozing after her
g-tube surgery.

We always say that Sadie redefines "rare."  Her diagnosis of Aicardi Syndrome itself is rare, with only about 800 known instances of the Syndrome in the U.S. Additionally, many of the events that have occurred this year are rare side effects of the Syndrome and her treatment.

Starting with her brain surgery at Cleveland Clinic in February, she has experienced a series of these "rare" events. First, the 27-day hospital stay following her surgery, which began with Sadie falling into status epilepticus post-surgery - supposedly a rare side effect, occurring in only about 2-3% of cases.

Next, during her six month surgical follow up this past August, the docs found scar tissue had formed in the brain causing fluid to build up. Another rare occurrence resulting in her second brain surgery, a cyst fenestration to drain the cyst and open up the brain's natural circulation. The surgery had a 50% chance of success of alleviating the hydrocephalus (fluid buildup).

Our hopes were that we would avoid a shunt (artificial drain) placed in Sadie's brain. We thought our prayers had been answered earlier this year when the fluid seemed to be circulating, and the scans showed that the cyst had decreased in size.

Sadie in her holiday jumper

Recently, Sadie's seizures have been particularly hard to control...getting worse and worse despite medication increases and changes. Additionally, she has not been as visually attentive and her eyes have been a little shaky and downcast. Well, we may have found the cause. The recent scans show fluid is again building up in her brain, now requiring a shunt to be placed.

If there is a silver lining to this recent discovery, it's that hopefully the hydrocephalus was the cause of the seizure increase and we'll see a decrease once the shunt is placed. Optimistically, we also hope that some of Sadie's movements and behaviors that we thought to be lost, will return.

Sadie will have her shunt placed at the end of this week. Her fourth surgery of 2012 (Merry Christmas to us!). Dr. Tomita at Lurie Children's Hospital will perform the surgery - a surgery which he explained as "common"...as common as brain surgery can be, I suppose. The surgery will take about 1 hour and if things go well, she could be released the very next day.

In other news, Sadie's g-tube surgery earlier this month went quite smooth. Despite a little bit of discomfort, she performed like a rock-star and was released the very next day. We can only hope that shunt surgery will go as smoothly.

Moving into what we hope to be an uneventful 2013, we always pay close attention to the "rare" side effects of treatment and medication. As we now know "rare" means "things likely to happen to Sadie."