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."

Facing Reality

Sadie in her owl costume on Halloween.

The morning after Sadie's diagnosis, I remember awakening and hoping that the previous day was all a dream. But I quickly had to face the reality that it wasn't. Coming to terms with reality can be a difficult task for parents of special needs children. It's been particularly difficult lately as Sadie has been struggling in so many areas.

We've already faced some pretty tough realities - that our little girl may never walk, talk, or develop like a normal child. But for a long period of time, she was still making gains. She smiled, she held a toy for a short time, she swatted at beads on her toy bar, she rolled over for the first time at 18 months! While these might sound like small, insignificant gains to others, they were HUGE for us - and for Sadie.

I always try my hardest to stay positive, but the simple truth is she no longer does many of these things. Things that we once took for granted - like bringing her hands together, holding and grasping a toy, mashing her little hands against her face, swallowing food, sucking on a bottle. We've had to come to terms that these skills might be lost.

Who knows why she has regressed in some areas. Maybe it's the burden of multiple seizures (now over 20 per day) catching up with her. Maybe it's an unfortunate side effect of the two brain surgeries. Maybe it's just the nature of her getting bigger and it being more difficult to move her body around. Whatever it is, it hurts my heart deeply.



This is what a G-Tube looks like.

Recently, we've had to accept the fact that she needs a feeding tube. Every parent has their own hot button - something that is particularly difficult to accept. For some, it's the wheelchair, or the trach, for us...it was the G-Tube. Her recent swallow study confirmed that Sadie's swallow isn't strong enough to get all her calories orally. The news didn't come as a huge surprise to us. After all, she has had the temporary NG tube in place for almost 6 months now.

The G-Tube procedure will be done at the end of this month. It pains me that she will undergo yet another surgery this year. But we know that for her health, it's what she needs. On a positive note, we'll never worry about dehydration or getting her medicines. I also learned that you can vent a g-tube, allowing gas to expel directly out of the stomach...who knew? When people ask about it, I tell them it looks like the plug for an inflatable pool toy. I suppose it's a natural way to feed, after all, we all fed that way in utero, right?

The "wobble switch" recommended for Sadie.

Despite my melancholy about the hiccup with her development, Sadie has been keeping busy with her weekly aqua therapy sessions. If she would only keep her eyes open in the warm therapy pool. (She seems to think it's a bubble bath.) 

She also underwent an augmentative communication clinic at our local Easter Seals branch. They recommended a few low tech communication devices for her as well as a wobble switch. The switch can be used to activate toys, play music, make choices, etc. It is easily activated by any movement of her hand or arm.

So, while there are a few good things happening in Sadie Land...it's been difficult lately to see the forest for the trees.

Mixed Feelings

Sadie on her first visit to
the new Lurie Children's Hospital

Last week was the two year anniversary of Sadie's Aicardi Syndrome diagnosis. Last year, I wrote a blog post about what happened that day and our feelings after we heard the diagnosis. This year, as the anniversary came and went, I found myself having many mixed feelings.

I feel sad as I think about her diagnosis day, but grateful that her diagnosis has taught us what is really important in life.

Anxious about her upcoming swallow study. (As mentioned in a previous post, her May study showed that she aspirated liquid. Since then, she has received all liquid feedings through her NG tube. Sadie will repeat the study in August and based on the results, she may need to get a G-Tube.)

Scared that she might fail this swallow study. Scared that she might pass this swallow study.

Upset as she has been having really intense seizures lately that scare her and cause her to cry. Disheartened that Sadie's current seizure medicines aren't working as well as we'd like.

Hopeful as we start a new seizure medicine this week. (On Thursday, we will start a new medicine called Zonisimide (Zonegran). This medicine has been recommended by a few doctors who have evaluated Sadie. Additionally, it seems to have yielded positive results with other Aicardi girls.)

Sad as dear friends, a fellow Aicardi family, relocate from Chicago to New York at the end of the month. Grateful that this diagnosis has brought them into our lives.

Pi**ed as I flip the TV channels and hear the announcer on TLC's "I Didn't Know I Was Pregnant" say, "...even without any prenatal care, the baby came out completely healthy." (I resist the urge to throw a shoe at the TV.)

Sad (again) as I hear of another Chicago-area family who recently received an Aicardi Syndrome diagnosis for their newborn daughter.

Happy, thankful and amazed at the generous, kindhearted people we continue to meet through our new church community.

Envious of the old colleague I met for lunch last week who has a fabulous new job. Yearning to be back in the career field. At the same time, grateful not to have the stresses that go along with juggling work responsibilities.

Blessed and thankful that I am able to stay at home to care for Sadie.

Amazed at how much equipment costs, especially when you put the words "special needs" in front of the description - as we finalize our purchase of Sadie's special needs swing for our backyard and a special needs jogging stroller.

And finally...HOPE that things WILL eventually get better.