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.

Why I Don't Care if You Stare

As many of you know, Sadie began her journey to diagnosis with a hunt to find out what was going on with her right eye. I remember leaving one of Sadie's first opthomology appointments alongside a mom pushing a child with Downs Syndrome in a wheelchair.

Right or wrong, I remember thinking to myself "wow...it could always be worse."  I also vividly remember how very put-together this mom looked - tall, attractive, with her hair in a ponytail and wearing yoga clothes. I admired that she looked like she had it all together, despite the challenges she faced. Now, how I wish that vision impairment was Sadie's only disability.

There are many conversations by parents in the special needs community about others staring at their child. Most of these discussions on blogs and message boards hover around the "rudeness" of the adult or child who is staring at their special needs kid.

However, my feelings about this differ slightly. Honestly - I really don't care if people stare. In fact, I understand why they do. Sadie looks different. It's not often you see a little 2 1/2 year old girl in a wheelchair with a tube hanging out of her nose.

Adults usually politely look at her, then look away. Children are a little different, they examine her very closely, and often ask their parents a question about her. "Why is she in that chair?" "What is that cord in her nose?" "What happened to her?"

A few parents will look at me apologetically, to which I simply smile back at them. I've found that most parents handle these questions quite well. "You see, honey, some kids are in a wheelchair because it takes them a little longer to learn to walk." or "Remember when your friend Isabelle had an NG tube when she got sick? That little girl has one too."

Parents shouldn't feel like they have to apologize for these questions. Kids are naturally curious. I expect stares and questions from children. I actually find myself quite interested in the parents' responses to these questions.

And, yes, some adults stare too, and I'm OK with that. There were the two nuns in a hospital lobby recently who couldn't take their eyes off Sadie. I imagined them to be saying a few prayers for her, making a mental note to add "the little girl in the wheelchair" to their prayer list. I admit, sometimes even I stare at another special needs child...try to guess their diagnosis, or to check out their wheelchair or equipment.

My point is... you never know why people are staring. I found at least one other person who agrees with me. But for every article like this, there are at least ten others written by special needs parents about how rude it is when people stare. And, I can't say that I blame them. After all, when you are "in the club," you become accustomed to fighting - with doctors, school systems, insurance companies...you name it. So the defenses are naturally up. It's simply not the way I like to respond.

SO, next time I'm in Target - unshowered and lacking makeup - and I see someone staring, I'll just assume the stare is one of admiration. Or, at least, that's what I'll tell myself.

The Next Fire

Sadie smiling in her chair

Life with Sadie is a series of putting out fires. We're always waiting for the next one to pop up.
Luckily, the biggest fire of this Fall was extinguished. We heard back from the docs that the CT scan showed her brain looked stable. No fluid was building up, and the cyst fenestration surgery appeared to be doing it's job - allowing the fluid to naturally circulate again. We all exhaled.

However, soon after hearing this good news, another set of fires popped up. This Fall began with the first "fire," Sadie's mild pneumonia. She spent a few days on oxygen and recovered quickly. Shortly after finishing her antibiotics for pneumonia, she was diagnosed with a Urinary Tract Infection (UTI). Sadie used to get UTIs frequently when she was younger, but since starting a maintenance course of Bactrim, she has been UTI-free. Well, this one must have been a bit too much for the antibiotic to handle. So...she started another 10-day course.

In the middle of treatment for her UTI, the third "fire" erupted. Sadie awoke last Saturday morning very lethargic and with a "barky" cough. The pediatrician diagnosed croup. Her oxygen continued to drop throughout the day, until our home oxygen tanks just couldn't keep up anymore. Down to Lurie Children's Hospital we went...

She was diagnosed with a respiratory virus (rhinovirus) which led to the croup. When adults develop rhinovirus, it manifests itself as the common cold. When Sadie develops rhinovirus, it turns into an ER visit and a two-day hospital stay. By Monday morning she was completely off oxygen and back to herself.

You see, the problem with these fires is that the embers from one fire can ignite another. Along with an xray of her lungs, the docs xrayed Sadie's belly to get a better look at the GI issues she's been experiencing (as mentioned in the last blog). While the lung xray looked fine, the docs were concerned enough about her belly scan that they called in the surgery team to look for an obstruction.

Luckily, no obstruction was found, but the belly was full of poo and gas - even though she had a series of bowel movements in previous days. She is scheduled to see a motility specialist to see why her bowels aren't moving like they should be. The docs mentioned that the full belly could have contributed to the breathing troubles as well.

Staring at the Jellyfish at the Jellies exhibit!

And there are some fires just refuse to go out no matter how much water you throw at them (case in point, the seizures). Sadie's seizures have been pretty awful lately. She's still having her typical infantile spasm clusters a few times daily, but has also started to have lip-smacking seizures. Her face gets red and she'll smack her lips and move her mouth around strangely. These seizures have been occurring about 20 times a day. On Thursday, she was back at Lurie for an overnight EEG. In the short time she was hooked up, I pressed the seizure button twenty-two times. Yes, twenty-two times.

We had been trying to wean her off her heavy medicine load for some time, but it looks like the medicine we were trying to wean (Vigabatrin), may have been doing some good.  So, now we are titrating the dose back up. Ugh...it's a horrible game of trial and error.

On a lighter note, in between these illnesses, we were able to get Sadie out to the Shedd Aquarium to look at the fishies! She just loved the jellyfish! I think it was a combination of the dark room and the lit-up aquarium. You can tell just by looking at her face how much she enjoys it. (And, no...sorry folks...we will not be getting jellyfish at home.)

So...in the meantime, we'll keep working on these fires until we find a way to extinguish them once and for all.

An Eventful Few Weeks

A lot has happened in Sadie-Land in the past month. A few weeks back, Sadie had a series of sleepy days. As you know, sleepy days are few and far between for Miss Sadie. She is lucky if she gets a 30 minute nap each day. So, on a Sunday when she had slept 5-6 hours and barely woken up when roused, we were naturally concerned.

The following day, I mentioned this sleepy behavior to her Epileptologist during our routine visit. She shot me a concerned look and immediately sent Sadie to medical imaging to check if the fluid in her brain had started to build up again. At this point, we were only 2 1/2 weeks out from her cyst fenestration surgery.

Thankfully, the results came back fine. At this early stage, the fluid didn't look like it had started to accumulate again, but we wouldn't know for sure until Sadie's 6-week post-op CT scan. However, the doctor did express some concern about the tumor on the left side of her brain.

Chillin' in her stroller during a walk.

You see, Sadie has a tumor in her left hemisphere called a choroid plexus papilloma. We've known for some time that it was close to the third ventricle in her brain and had the potential to cause hydrocephalus (fluid buildup) should it shift or grow. Prior to her recent brain surgeries, she had been undergoing MRIs every 6 months to check for tumor growth and to ensure it doesn't block the ventricle. The doctor mentioned that THIS imaging showed the tumor to be partially obstructing the third ventricle.

So, now it seems we have two things to be concerned about - first, that the scar tissues doesn't re-form and cause blockage, and second, that the tumor doesn't get in the way and cause blockage. If either of these occur, then it appears that the only way to fix the problem is by placement of a shunt. We will know for sure if either of these things is occurring after her CT scan scheduled for this Thursday.

In other news, Mommy and Daddy were able to get away for vacation for a few days. But, despite a long talk with Sadie about NOT getting sick, she decided to do the opposite - just like a toddler! 

On Saturday night, her oxygen dropped and she developed a fever. When her temperature increased a few hours later, Grandma and Aunt Megan decided to take Sadie to the ER for assessment. Turns out, she had a mild pneumonia which was likely caused by aspiration from vomiting a few days earlier.


Sadie looking lovingly at Aunt Megan (Goo).

Another issue Sadie has been dealing with lately is slow motility. Or, in layman's terms - she can't poop. In the four weeks since her brain surgery, she has not been able to have a bowel movement without assistance of a suppository. We visited the GI doc this week who gave us some tips on how to get her to go...yes, it's a glamorous life we lead.

We did receive a bit of good news last week. After a visit with a doctor at the Chicago Lighthouse for the Blind and Visually Impaired we received confirmation that Sadie has normal vision in her left eye. Yay! We had heard this from her regular opthomologist, but I've become a bit of a sceptic when it comes to doctors, so it is always a relief to get confirmation from another source!

Please keep Sadie in your thoughts and prayers as we hope for good news out of Thursday's CT scan.



A Better Place To Be

Recently, Adin and I were looking at a few older posts on Sadie's blog. Two years ago, Sadie was hospitalized emergently to start the Ketogenic Diet after having hundreds of seizures per day. One year ago, she was hospitalized again to start ACTH after having seizures every five minutes.  This year, she's recovered from two brain surgeries. Reading those posts was a stark reminder of everything she has been through in her short life. And how, as soon as you think you are in a better place, reality can knock you back down.



Sadie and Daddy enjoying pool time.

Now that she is finished with the Day Rehab program at Rehab Institute of Chicago (RIC), she is continuing with her regular therapy schedule, which includes weekly Physical, Occupational, Speech, Vision and Developmental Therapies. I'm pleased to say that despite recent setbacks, she continues to do well in therapy. Moving at a much slower pace than typically developing kids, obviously, but making progress nonetheless. Recently, her Physical Therapist has been working with Sadie in a Lightgait over a Treadmill, getting her to walk a few steps at a time so her body begins to understand what this feels like.

Additionally, I've been looking to enroll her in aquatic therapy. Aquatic therapy can provide valuable movement for kids who are low tone and struggle with holding up their own body weight. We tried Sadie out in a pool, and she seems to really enjoy it, so we are hopeful we can get her in aquatic therapy soon!

Sadie and Olivia contemplating
the Modern Art.

In spite of a busy therapy schedule, we have found time to do a bit of traveling this summer, as well as getting out and enjoying some Chicago sights. Sadie and her friend, Olivia, recently visited the Art Institute of Chicago to take in the new Modern Art wing. Sadie didn't quite grasp Modernism, she was much more drawn to the Impressionists - Monet, Seurat, and Van Gogh in particular.

We also recently traveled to St. Louis for the 2012 Aicardi Syndrome Family Conference. The Aicardi Syndrome Foundation holds this biennial conference for families with affected daughters. It was such a great opportunity to see old friends and meet new ones - quite a different experience than our first conference, which we attended four weeks after Sadie's diagnosis. This time, we found ourselves to be much more social with the other families, rather than just deer-in-headlights

Medically speaking, Sadie is still being fed the majority of her meals via NG tube. She is allowed a little bit of pureed food each day, which she eats with varying degrees of success. Sometimes she chews well and swallows, other days, the food sits in her mouth and she spits it out. We continue to work with her speech/feeding therapists to improve her eating skills. She was originally scheduled for a repeat swallow study in August, but we've decided to hold off until we find out the results from her recent brain surgery.
As I mentioned in my last post, the cyst fenestration surgery has a 50% change of being successful at alleviating Sadie's hydrocephalus. Sadie is scheduled for a CT scan in mid-September, which will show whether or not surgery was successful. If the fluid is building up in her brain again, she will have to get a shunt (an artificial drain) placed in her brain. We are saying lots of lots of prayers that the surgery WAS successful and she will NOT need this.

Prior to her recent surgery, had switched some of her seizure meds to see if we could gain more seizure control. She is finally completely off Dilantin (yay!), and we had begun a taper of Sabril (Vigabatrin). She also started a new medicine, Zonisimide, which we are still hopeful might provide some seizure relief. However, in light of the recent surgery, everything is on "pause."

Speaking of a better place to be, Adin and I booked our first "alone" vacation since before Sadie was born. We are looking forward to getting away for a few days and know Sadie will be in good hands with Grandma and her Aunt Megan.

We look forward with a mixture of hope and trepidation as we await the results of her brain surgery. She needs your prayers now more than ever.

Where to Begin...

Sadie post surgery

I've been procrastinating writing this post because so much has occurred in the past few weeks. Where to begin...

I suppose I'll start with the biggest piece of news. In case you hadn't heard, Sadie had a second brain surgery a few weeks ago. During her 6 month post-surgery follow up appointments at Cleveland Clinic, her MRI showed water in her brain cavity that was unable to drain. This fluid-filled pocket (or cyst) was causing pressure to build up and press against her brain stem and other structures in her brain. We saw this clearly on the MRI.

The doctor was not 100% sure why this occured, he said that it is possible that scar tissue from her first surgery formed a membrane over the brain's natural drain causing a buildup of fluid. Apparently this can happen in 5-10% of patients who receive brain surgery.

The doctor spoke about a few symptoms that we might have seen. Headaches, sleepiness, loss of head control, etc. Obviously, Sadie can't tell us if she has a headache, but we hadn't noticed a change in her behavior. We did, however, notice that her head control hasn't been quite as good and she has been excessively sleepy lately - both things that we had been attributing to a recent change in seizure medicines. 

Our pager that provided updates
during Sadie's surgery.

The doctor layed out a few options for treatment. First, we could choose a cyst fenestration - which essentially is a procedure where they go into the brain to lance the cyst and create a natural hole for the brain to begin to naturally regulate the pressure. The second option he offered was a cyst fenestration and shunt. A shunt is an artificial drain which is implanted in the head and drains the spinal fluid into the belly where it is reabsorbed. The drawbacks of a shunt is the probability that it could malfunction, get infected, etc. This occurs quite often. Lastly, he mentioned that some parents may choose NOT to treat the condition and hope for the best. The obvious drawback to this choice is that this condition can be fatal.

Adin and I decided that we were not willing to give up fighting for Sadie, and we would obviously choose to treat this condition. Which left us with surgery or surgery as options - not a great choice. So, we chose to do the cyst fenestration and hope that it works to drain the fluid and create the natural circulation of fluid in her brain. Here are some articles we read which describes the procedure in more detail:

http://cornellneurosurgery.org/pedneuro/endo_cyst.html

http://www.ncbi.nlm.nih.gov/pubmed/3226511

The drawback of the cyst fenestration without a shunt is there is a possibility that it might not work. The doctor told us that it has a 50% chance of working. Sadie will have a CT scan of her brain in six weeks which will show whether the surgery was a success. If the fenestration alone isn't effective, we'll have to consider a shunt.

Doors to the PICU.
I've seen these much too often.

Surgery was performed at Cleveland Clinic by Dr. Bingamin, the surgeon who performed her first surgery. Although this is not what we expected when traveling to Cleveland for follow up appointments, we knew she would be in good hands.

Unlike Sadie's first surgery, this inpatient recovery stay was relatively short. She was discharged in three days. She is now recovering at home and is doing quite well.

Please keep her in your thoughts and prayers throughout the next six weeks as we pray this surgery is successful and she will not need a shunt.

P.S. In our next blog post, I'll fill you in on all the FUN and exciting things Sadie has been doing this summer (trips to the Museum, the bienniel Aicardi Family Conference, etc.)

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.

Life Expectancy and Thoughts About More Children

Life expectancy isn't something most of us sit around thinking about. However, it's been occupying my thoughts recently as I read an e-mail about one of Sadie's Aicardi sisters passing away. In the past six months, at least seven girls with Aicardi Syndrome have passed away. Some older (generally-speaking, 30 years +) and some younger. Most recently, we lost little Ava who was 5 years old. Her mother wrote a very moving and poignant blog post about Ava's final days. (WARNING - have tissues handy.)

As hard as it is for us to grasp, we know Sadie will have a shortened life expectancy. Meaning both Adin and I will likely outlive our daughter. I believe the most recent data shows that the average life span for girls with Aicardi Syndrome as 10 years, median of 18 years. This got me thinking - how do you prepare for such grief? Some parents write bucket lists, others pray for miracles, some just try to put it out of their minds. Honestly, we don't spend a lot of time dwelling on Sadie's life span, because quite simply, it makes us both too sad.

Reading these emails about Aicardi girls who have passed is always an emotional blow. Something you've worked so hard to put in the back of your head and ignore, again comes to the forefront.

Many parents of medically fragile children are all too familiar with calling 911 or visiting an emergency room. Luckily, we've only had to call 911 for Sadie once in her life. Paramedics rushing through the house at 2 am is quite scary. Sadie has been in the ER a number of times in her short life - at one point in time, Sadie was a frequent visitor to the ER at Children's Memorial Hospital. Luckily (or unluckily) some of the ER nurses and doctors even know her there. But, taking her to another ER frightens me quite a bit, especially after reading this article.

Along those same lines, we get asked occasionally about our thoughts on having more children. Now, we expect and understand when those questions come from well-meaning family members, but it always takes me aback a little when it comes from someone with whom we are less familiar- like the dental hygienist.

Although I do understand people's interest in wanting to know our plan...so here it is.

Before Sadie was born, we always imagined that we'd have more than one child.  After Sadie's birth - even before her diagnosis - I wasn't so sure. Parenting is difficult. Parenting a child with a severe neurological condition and special needs is particularly difficult. The amount of time spent in caring for Sadie is extremely high, so involved that I simply cannot imagine having to care for a second or third child. Additionally, Adin and I often speak about how we want to have time to share with eachother as well (after all, we married eachother for a reason). So, Sadie will likely be our only child.

I know many who may disagree with this decision, but it is an intensely personal one, and one that we make alone. And after all, God may have a different plan, right? And yes, there is a bit of grief that we experience knowing that we may never have a typically-developing child. But, we consider ourselves blessed that we have Sadie.

As the parent who wrote the bucket list for her daughter said, "We could go around and cry all day long or we can enjoy the time we have with her." We choose the latter.

Stronger

Sadie weight-bearing in the LiteGait.

Sadie is going into her third month of the Day Rehab program at RIC (Rehabilitation Institute of Chicago.) She has been attending RIC for three days a week/two hours a day. During this time, she gets physical therapy, occupational therapy and speech therapy. While it has been an intensely busy few months, we couldn't be more pleased with her progress.

Her head and trunk control have improved significantly - and she can even sit with very little assistance. During speech therapy, she is working on communication by using the switch - shown in the photo to the right. Knowing her preference for pop music a la Beyonce and Katy Perry, her sweet speech therapist put a photo of Katy Perry on her switch. Each time Sadie presses the switch, we play music and have a dance party.


Sadie's switch with Katy's photo

Unfortunately, there are a few skills which Sadie used to practice, that she has since lost - like reaching for and grabbing a toy, bringing her hands to midline, and rolling over. Even before her surgery, she stopped demonstrating these skills. We are hopeful that with the help of her therapists that she will be able to regain these abilities.

In addition to her therapies at RIC, we are still working with her home therapists through the Early Intervention (EI) program. We recently visited our neighborhood park with Sadie's home PT, where Sadie experienced sitting on a swing and sliding down a slide - with the help of Mommy and Karen, her PT.

Sadie exploring the neighborhood park

While she is making great strides with her therapy, Sadie continues to struggle with daily seizures. As I've mentioned, we have seen some improvement post-surgery- particularly with the duration and severity of her seizures. Unfortunately, she's still having about the same number of seizures per day.

So, we are again in discussions with her doctor about switching up seizure meds. Our first order of business is to try to wean her off a few of these meds (she is currently on five - Vigabatrin, Keppra, Dilantin, Clonazapam, and Neurontin) - not to mention her Ketogenic Diet. Weaning the meds that aren't working will allow us greater flexibility to try new things. The challenge is figuring out what IS and IS NOT working.



Snoozing at the Zoo

Her blood draw a few weeks ago showed that her Dilantin level was a bit low. So, upon her doctor's recommendation, we are going to try weaning that first. If we can get her off Dilantin without upsetting the apple cart, then we are going to try a new medicine called Zonisimide (Zonegran). Zonisimide has been recommended for Sadie by a few doctors. So, we're hoping that it will work well for her. But first...a five-week wean off Dilantin. I never said things happened quickly.

In the meantime, Sadie experienced her first visit to the Zoo while visiting friends in Milwaukee. Of course, she spent most of the trip napping, but she did see a few of the animals. Mr. Cheetah made an appearance right in front of the window where Sadie was looking - and I think he caught her eye!

So, as Sadie's therapy sessions at RIC begin to wind down this month, we'll have a bit more free time to enjoy the warm summer weather, and to get her outside practicing some of her new skills!

Out and About With Sadie

With Mommy, Daddy and Godmother
extraordinaire, Megan, at the Epilepsy 5k.

As the weather gets warmer in Chicago, I find myself out and about more with Sadie. I am always a bit apprehensive about taking her places. Primarily because I don't want her exposed to people who are sick (which is always possible when she is in a public place), and second - because I am still  learning how to answer questions about her. Now that she is looking more like a typical toddler, people tend to wonder why she isn't walking, talking, etc. - the questions we never faced when she was a baby. To add to the apprehension, now that her NG tube in in her nose, there is a visual alert of a medically complex child.

I try not to let my own apprehension deter me from taking her out. Although I do tend to have my defenses up slightly when we venture into a public place - which is new for me. It's simply not in my nature to be defensive. In fact, I joke that often times when people say mean things, I don't even realize their malintent at first. Some might call me a "Pollyanna," but I'm OK with that. I'd rather be a bit naive than assume everyone is out to get me...but I digress.

Last day in her rear-facing car seat.

Physically taking Sadie out has been a bit of a chore considering she is off the growth chart for a toddler her age. Literally, she is above the 97th percentile for length. (I suppose they'll have to adjust their scale for her :) Because she is  not yet walking, it's up to Mommy to lug her around everywhere - all 34 pounds and 36 inches. For that reason, I've been focused on keeping myself in shape so I am able to better care for her.

In addition to physically getting her out of the house, there is the additional stress of timing our outings around medicine times - or packing up medicines if needed, weighing/measuring and packing her food, and now the feeding pump, travel bag, stethoscope to check for feeding tube placement, etc.

As for our outings - I try to get her out for a walk at least once a day. She enjoys the fresh air and takes the best naps outside. Sadie also seems to enjoy shopping, and is a great shopping partner. She is quite content cruising the aisles. I think she is intrigued by the visual stimulation of shopping - lights, colors, etc. Home Goods seems to be her favorite store. This also works quite well for Mommy (much to Daddy's dismay.) The only drawback is that it's quite difficult to push a wheelchair and a shopping cart, so our purchases are limited to what can fit underneath Sadie's stroller (much to Daddy's delight.)

Because of this, grocery shopping with Sadie is nearly impossible. Although a few weeks ago, I was pleased with myself when I discovered I could push Sadie's chair at the grocery store while filling up two recyclable grocery bags over each shoulder. A drive thru grocery store in my neighborhood would be much appreciated (anyone...anyone).

Finally, there is always the chance that she could have a big seizure while we are in a public place. Her seizures are still subtle twitches that I doubt anyone would notice unless they were looking closely. However, if she does have a more intense seizure, or one that lasts longer than I am comfortable with, it means heading to the car to administer Diastat. Luckily I've only had to do this on one occasion, and fortunately I was with my sister in law at the time. The only casualty was abandoning a nearly full cart in Target.

So, despite all these deterrents, I still do take Sadie out and about quite a bit. I think she enjoys it, and I want her to have as "normal" a life as possible...and normal means getting out of the house from time to time.

An Unexpected Turn

All tuckered out from opening birthday gifts.

Raising a special needs child is often compared to a roller coaster ride. Along with the many ups and downs are unexpected twists and turns. We experienced an unexpected turn last week during Sadie's swallow study. This was Sadie's third exam to look at her swallow. Her first swallow study showed she aspirated thin liquids, and we've since been thickening her bottles using a gel called "Simply Thick."

During the swallow study, a substance called barium is added to her food. The barium lights up on the x-ray showing where the liquid is going during the swallow. (You can see a pretty cool video here.) Her therapist and doctor at the Rehabilitation Institute of Chicago ordered the swallow study to check her post-surgery swallow. We went in assuming a routine appointment - after all, she had a post-surgery bedside swallow examination in Cleveland which she passed with flying colors. She had not been getting sick and her lungs have always sounded clear (two red flags for aspirating).

However, the results showed otherwise. While drinking her bottle, even thickened, a small amount of the liquid was making it's way into her lungs during each swallow. Even at it's thickest consistency (honey thick), it was still going into her lungs.

Sadie eating her breakfast via NG tube.

Sadie was sent directly to Children's Memorial Hospital for an immediate admission and NG tube placement. (Standard protocol when a child fails a swallow study.) We were told by the pulminology team at Children's that if we had not found the aspiration, Sadie could have come down with a horrible life-threatening pneumonia. And, if she were to continue to drink, the aspiration could cause lung disease. The pulminology docs said that there are over 70 different mechanisms that must occur in the throat to ensure a safe swallow. Seems amazing that all of us aren't aspirating all the time, right?

This is what a G-Tube looks like.

So...you may ask, where does that leave Sadie? Well, there are few options for a child who aspirates. The most common being a G-Tube. Many girls with Aicardi Syndrome also have G-Tubes. In fact, one of Sadie's good Chicago Aicardi friends, Olivia, just got her G-Tube a few months ago.

In order to mentally prepare for this possible next step, we met with the surgeon this week who would perform the G-Tube operation. He provided us with pros and cons of G-Tubes. The pros being ease of medication administration, hydration, and most importantly - no aspiration. We have spoken to Sadie's team at Children's Memorial who have advised us to take our time with making this decision. They have offered to repeat a swallow study in 3-6 months to see if her swallow has improved. By that point, we can do more research and become more comfortable should the G-tube be the path she must go down.

Luckily, she is still able to eat pureed food (baby foods), so we've been feeding her her favorite keto-friendly food - mashed banana with butter. While we are disheartened and saddened by another "normal" being taken away from Sadie for the time being, we are grateful that it didn't develop into something even worse.

How Do You Measure a Year?

Sadie "dolled up" for Easter.

It's hard to believe that Sadie turns TWO this weekend. Although in some respects, it seems like she's been around longer than just two years. Heaven knows, the poor girl has endured so much in her short little life.

It has now been almost 9 weeks since Sadie's brain surgery. As the doctors predicted, Sadie is still having seizures. The seizures are milder and less frequent than before. Pre-surgery, Sadie was having 5-10 clusters/day lasting as long as 15 minutes. Post-surgery, she is at 4-6 clusters/day, with the most severe lasting 10 minutes. While this is a significant improvement, I can't help but be a bit disheartened that we didn't see a more drastic improvement. Although we went into the surgery with our expectations set, knowing that we could see NO improvement... as a parent, you can't help but HOPE for more.

Since my last blog post, sleep has improved slightly (quick prayer to sleep gods). At two years old, she still has trouble sleeping through the night, primarily due to the seizures that awaken her multiple times during the night. Mommy has now developed a habit of pulling her into bed with her if she awakens between 5-6 am. Mommy and Sadie snuggle, hold hands and dose for another hour or so. I have to admit, it's my favorite part of the day :)

Sadie using a switch during vision therapy.

Therapy is going well. Sadie's muscles are getting much stronger. Her head control and trunk control have improved immensely. We've also been working with a switch - basically a big button that teaches Sadie cause and effect. She currently uses a switch that says "eat" when we feed her. This picture shows her using a switch during a vision therapy session.

Unfortunately, until we receive that crystal ball from heaven, we'll have to continue making these difficult decisions on behalf of our daughter...not knowing the final outcome. Making each decision in the most thoughtful manner possible, all the while hoping...and hoping...that your decisions made will result in her having a better quality of life. And isn't that what EVERY parent wants for their child?

Last year's birthday blog post measured Sadie's doctor visits, therapy sessions, etc. This year, she has had the same busy schedule...but I feel like so much has changed. When we look at her, we don't see a child with disabilities. We see a child who knows her Mommy and Daddy - likes music, being outside, snuggling with her aunties...and a child who is HAPPY. And that is our biggest wish for her.

A Spring of New Beginnings (and Hats!)

It has been three weeks since Sadie returned home from her stay at Cleveland Clinic. We have been enjoying getting back into our regular routine. Sadie's scar from surgery is healing up well and her hair is growing back slowly. She received an assortment of spring sun hats from her Grandma. We joke that it is the "Spring of Hats," for Sadie. Being the trendsetter that she is, I'm sure that soon everyone will be wearing them.

The seizures have been holding steady. They are still less intense and frequent than before surgery, but she still has multiple episodes per day. She continues to be quite vocal and active...even a bit hyperactive at times. She particularly likes to kick around and talk around 3:30 am. Once she awakens, it's fruitless to try to get her back to sleep, so we typically pull her into bed with us and just endure the yelling and swatting until one of us gives in and gets up for the day. It's really quite comical...and tortuous. I now understand how sleep deprivation is used as a method of torture.

We have one more week until she is completely weaned off Phenobarbitol, so we are hopeful that the hyperactivity and sleep issues will settle out once her body has adjusted. Anecdotatally speaking, Phenobarbitol is notoriously difficult to wean and can cause all kinds of withdrawl symptoms in kids. We've spoken to many parents who have experienced similar difficulties during their child's wean.

Her doctor mentioned that we have the option of increasing her sleepy medicine (Neurontin) to try to get her to sleep a little longer. But, my mind was having a hard time making that leap...given that she just went through surgery in the hopes of weaning her OFF some of these meds. So, we decided to endure the sleep deprivation for a few more weeks until she is completely weaned off Phenobarbitol. Let's hope we can both keep our sanity until then...

Sadie's therapy schedule has been keeping us quite busy lately. Three days a week she is in the Day Rehab program at the Rehabilitation Institute of Chicago (RIC). She receives Physical Therapy, Occupational Therapy and Speech Therapy in Day Rehab. She also sees her regular therapists through Early Intervention (EI), but we have scaled back a bit with EI until she completes Day the program at RIC. Presently, we think she'll be in Day Rehab for at least two more months. The duration will be based on how well she is doing and how close she is to her pre-surgery baseline.

We've already seen HUGE improvements with her head and trunk control. When she left Cleveland Clinic, her muscles were quite floppy - a wet noodle. Now, she is managing her head quite well. She still needs to be supported while sitting, but that has also improved immensely. The therapists at RIC have ordered a Benik Vest for Sadie to help with her trunk control. Of course, Sadie's will be hot pink!

A bit of good news - we've heard back regarding Sadie's diagnostic testing for a mitochondrial disease, and so far, everything has come back negative. There are still a few tests outstanding, but this is great news.

In the meantime, we are beginning to plan for her two year birthday! It's hard to believe that Sadie will be turning two at the end of the month. Of course, we'll be on the hunt for the perfect hat for the occasion.

A Long February's Journey Into March. A Surgery Story.

In the lobby of the Cleveland Clinic is a projection of a tree that transitions through the four seasons. Spring, Summer, Fall and Winter. We arrived in Cleveland to cold weather and snow on February 20th and left to 70-degree weather on March 17th.

Sadie arrived at the Surgery Center at 5:30 am on Thursday, February 23rd. I carried her into the surgery room at approximately 7:30 am. I was able to stay with her until she fell asleep from the anesthesia. Leaving her was one of the most difficult moments of my life. Surgery lasted approximately 5 1/2 hours. We waited in the surgical lobby and received periodic updates via pager.

Except for needing a bit of a blood transfusion, the surgery itself went fine. Following the procedure, Sadie's surgeon, Dr. Bingamin, provided us with an update on the procedure. He mentioned that the structure of her brain is a little smaller than is expected of a toddler her age (microcephaly). We weren't terribly surprised, knowing that this is common for girls with Aicardi Syndrome. He explained some of the work they did during surgery, mentioning the use of electrodes on the brain tissue during surgery to see which areas were emitting seizure activity. He mentioned that her most malformed area in the frontal lobe was constantly spiking with electrical discharges.

The photo above shows what Sadie looked like post-surgery - puffy and pale. While the surgery itself went as expected, Sadie's recovery was quite difficult. As she awoke from surgery, she began having a few seizures - full body convulsions that we had not seen before, which began on the right side of her body. Apparently this is not uncommon for kiddos who have undergone brain surgery due to the trauma to the brain tissue. Still a little disheartening.

She was given a number of different emergency meds to stop the seizures. Dr. Bingamin also ordered a CT scan to check for bleeding, which came back normal. Due to the additional seizure meds, there were a few days where we were extremely concerned that Sadie would not be able to continue breathing on her own. Which means intubation and be placement on a ventilator. In fact, we had a ventilator hanging out in her room in the PICU for quite a while.

Sadie also had some trouble post-surgery with nausea. She was vomiting for a few days after surgery, so much so that docs didn't even try giving her any nutrition until 5 days post-surgery. And, even then, they just placed her on a TPN IV bag (a type of nutrition that goes directly into her bloodstream via IV). Sadie's nausea and strange right-sided movements continued for a few days post-surgery.

On Saturday, they removed her head bandaging revealing her scar, which was shaped like the upper part of a question mark looping from her right ear around the side/back of her head and around down the middle. Immediately after removing her head bandaging, Sadie was hooked up to a Video EEG to monitor her brain waves. It was Saturday that we learned Sadie was in "status epilepticus" or constant seizure. She was then placed on additional medication and the risk of breathing impairment increased.

Sadie stayed in status epilepticus for a few days until her brain slowly calmed down. She stayed on the Video EEG for a total of 12 days until the docs felt comfortable enough to take her off.

Meanwhile, she did have a bit of trouble breathing and required a few treatments by respiratory therapy, but luckily no intubation was required. She also suffered from some issues with her belly being full and distended, requiring docs to place an NG tube to pull some of the excess "juice" out of her belly. Sadie also had a feeding tube (ND or "CorePack" tube) placed which went directly into her intestine, this was used to administer medicines and to feed her formula.

After her central line was taken out of her neck, she received a PICC line in her arm. A PICC line is basically an IV that is meant for long-term administration of IV drugs, it also can be used to pull blood, so the child doesn't have to be continuously poked. Sadie was put under anesthesia and intubated for the placement of the PICC line.

Originally, GI docs wanted to conduct a gastric emptying study and a swallow study. After a little prodding by mommy and daddy, the tests were cancelled and replaced by a simple bedside swallow evaluation, which Sadie passed with flying colors. We began to feed her orally about 2 1/2 weeks after surgery. While her suck was a little weak, she quickly regained this skill and is again eating like a champ.

In addition to Sadie's brain surgery, she also had two additional diagnostic procedures performed - a spinal tap and a skin biopsy - to test for an underlying mitochondrial disease. We have some preliminary feedback from the spinal tap that no mitochondrial abnormalities were found, but we are awaiting final results, as well as the skin biopsy results.

We were hoping to transfer Sadie into an inpatient rehab facility, but after a few days of fighting with the insurance company, they denied her transfer. We will be starting a day rehab program with Sadie this week.

Overall, Sadie performed in her typical super-hero fashion. Lots of pokes, prods, tests, wires, cords, etc. but she still managed to give smiles to Mommy and Daddy. We're not quite sure where things will end up post-surgery. It will take some time to know for sure. So far, she's been very vocal, very interactive, very happy, and while the seizures still remain - they are less frequent and less severe.

After twenty-seven long days in Cleveland, we are enjoying the beautiful Chicago Spring and are happy to be home.

Preparing for the Unknown

Posting to Sadie's blog has taken a back seat lately as we prepare for her upcoming surgery. I hadn't realized all the minutiae involved with a child undergoing such a surgery. There is coordination between doctors, hospitals, insurance companies, therapists. Conversations about pre-op medications, post-op therapy. In these weeks leading up to her surgery, we've been trying to do our best to not expose Sadie to any unnecessary viruses and have generally been trying to keep her as healthy as possible. We've hit a few stumbling blocks with feeding issues and oxygen saturations. But, she seems to have bounced back OK. We've also been doing some things to take care of ourselves during this time, because we know that the road ahead will be full of uncertainty.

There are a number of things that we simply will not know until after her surgery. For example, how her feeding will be handled - if she'll be able to eat by mouth, or if she'll need a temporary (NG) feeding tube. What her post-surgery rehab schedule will be. How long she'll need to be in the hospital, etc. etc.

We DO know that the surgery will last between 3-5 hours. The doctors will be removing her right frontal and parietal lobes of her brain. Surgical recovery will be between 5-7 days, followed by an intense rehab schedule, either inpatient or outpatient, or a combination of both. Sadie will have a scar behind her hairline on the right side of her head. Stitches will be involved. There will be a trip back to Cleveland in 6 weeks, 6 months, one, two and three years to assess the success of the surgery.

The uncertainty of it all is unsettling. Particulary for two people like Adin and I who thrive on consistency, routine, and pre-planning. But the hardest uncertainty of all is not knowing how her little body will react to the surgery. Worry has engulfed us both. Thinking about anything but her surgery is extremely difficult. We certainly HOPE and PRAY the surgery will help to control her seizures - but nothing is certain. And the not knowing is the hardest part.

Please continue to keep Sadie in your prayers through the difficult weeks that lie ahead.

The Things You Never Wanted To Know

Parenting is a learning curve. All new parents understand the frustration of figuring out how to care for a new baby, whether it be the meaning of different-sounding cries, recognizing the "poopy-face," or how to assemble those darn Dr. Brown's bottles. However, parenting a child with special needs is a whole other ball of wax. There are quite a few things I've learned since becoming Sadie's mom that I never thought I'd need to know, nor ever wanted to know.

Here is a sampling:
- How to check for placement of an NG tube
- The names of the parking garage cashiers at Children's Memorial Hospital
- mg per kg calculations for Sadie's medicines
- How to put a regulator on an oxygen tank
- The definitions of fancy medical terms like hypsarrhythmia, hemispherectomy, and corpus callosum
- How to turn a hospital chair into a bed

Last week we were introduced to yet another thing that we never wanted to know. I've mentioned previously that a few of Sadie's doctors have questioned whether she has a metabolic or mitochondrial disease in addition to Aicardi Syndrome. Thus far, all the initial testing has come back negative. During our visit to Cleveland Clinic last week, we met with a doctor who specializes in this area. Despite the initial testing coming back negative, he explained that he strongly believes that an additional mitochondrial diagnosis does exist. He equated the initial blood and urine tests to fishing in a pond. Sometimes there are a bunch of fish there, but you don't catch any.

The problem with mitochondrial disease is there isn't a foolproof way to diagnose it, nor are there great treatment options. Diagnostic tests in order of least to most effective include: spinal tap, skin biopsy, and muscle biopsy (cutting a 2-3 inch incision in the thigh to extract about 1 cm of muscle). But even the muscle biopsy can miss a diagnosis 20% of the time. If they DO find that Sadie has a mitochondrial disease, treatment would include a vitamin regimen and some additional supplements to help the mitochondria function more effectively.

So...you're probably asking, what does this mean? Mitochondrial disease is scary stuff. Back to Biology 101, the mitochondria in the cell convert food into energy. When they don't work properly, kids get sicker faster, have a harder time recovering, eventually cells start dying, organs fail...you probably can fill in the rest.

So where does that leave Sadie? The doctor explained that some parents of medically-complex kids just decide to let it be an unanswered question. They just don't want to put their child through the diagnostic tests that may or may not yield results. Other parents do all the testing. Adin and I aren't yet sure what we'll do.

We went to Cleveland seeking some answers about pursuing brain surgery for Sadie, and left with a whole other set of questions. The initial feedback from the doctors is that a mitochondrial disease would not prevent them from doing surgery. There would be additional precautions the docs would take during surgery.

In deciding whether or not to do surgery, a few things the doctors said really hit home for us both. The neurosurgeon said that it is unlikely that the part of the brain they are proposing to remove (right frontal and parietal lobes) is doing anything besides causing seizures due to the extent of malformation. When discussing risks of the surgery, the the head epileptologist pointed out that yes, there are risks to the surgery, but there are also risks to having uncontrolled epilepsy for a lifetime.

So, we are going to pursue brain surgery for Sadie. It hasn't been an easy decision, but we feel like it is her best chance of gaining some seizure control. And, even if we see little or no improvement, at least we will know that we tried everything we could to give her a better quality of life.

In the meantime, we are letting the news about the additional mitochondrial disease settle in before we decide which diagnostic testing we'll pursue, if any. Yet another thing we never wanted to know...but we'll get through it. What would you do it if was your child?