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."

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 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.

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?

My Problems > Yours

Recently, while speaking with a group of fellow special needs moms, the topic turned to our shared exasperation at some people's lack of perspective. These moms have kids with some of the most complex medical conditions - feeding tubes, daily seizures, non-verbal, non-mobile, oxygen requirements, etc.

One mom recanted a tale of a text message she received while she and her husband were writing up their daughter's DNR (Do Not Resuscitate) orders. The message of complaint from another mom detailed how her power had just gone out and she and the kids were forced out of the house to wait it out at the local Rainforest Cafe. My fellow special needs mommy wrote back, something to the effect of..."I'm sorry your day has been so hard. We're writing up our daughter's DNR Orders. Talk more later."

We all know these martyrs. The people who respond with a long sigh when you ask how their day is going. Always reminding you of their hardships, trials and tribulations. Even those who have legitimate things to complain about, they're just no fun to be around. I vowed never to be one of them.

Now, I realize that what may sound relatively trivial to me, is in fact, a big deal in these martyrs' lives. But, by about the sixth time I'm hearing about how they're just so worried that little Johnny is still using a pacifier, my head is about to explode. I want so badly to bring them back to reality and remind them that while they are googling the long-term dangers of pacifier reliance, we are debating whether or not we are going to have someone cut into our daughter's skull.

A good friend of mine suggested that this is exactly how I should respond. "Give them a little perspective," she said. No, instead I typically excuse myself from the conversation before I say something I'll regret.

Besides the lack of sleep, our little Sadie has been doing OK for the past few weeks. We are still dealing with seizures every day - but no diastat seizures for about 3 months now (quick prayer to seizure gods). She's still doing well OFF oxygen as well. Our recent challenge has been with feeding. As I mentioned in a previous blog post, we've been to see a second feeding therapist at Children's Memorial Hospital. She's provided us with a few additional tools to use with Sadie during her feeding times - such as a chewy tube (which promotes a natural chewing pattern), a maroon spoon, and a NUK brush.

These tools have provided for a bit more cooperation during feeding, but she'll still have quite a few mealtimes where she simply does not want to open her mouth and/or swallow her food. We've also been slowly introducing Sadie to a sippy cup during her feeding times, but some days she just has an aversion to any type of feeding. Luckily, we've still been able to keep her hydrated and get her daily calories in by using her bottle. We're just keeping at it.

In January, we will visit the docs at Cleveland Clinic again to talk about a possible surgery for Sadie. We were given the option to have surgery performed on this same trip, but decided that we'd need some time to process the conversations to make an informed decision. In the meantime, we're looking forward to spending a lovely Holiday Season with friends and family. And, when I encounter one of these martyrs, I'll just need to remind myself that it's not what happens to you, but how you react to it that matters.

P.S. The photo above is of Sadie meeting Santa for the first time - you can see she's overjoyed!

The Beat Goes On

At this week's 18 month appointment with Sadie's pediatrician, I saw that her file had been upgraded. Most of the other kids' records are held in file folders. Sadie's records are now held in a large 5-inch three-ring binder. Luckily, we've made only a few additions to that binder recently, as the past few weeks have been relatively stable for Sadie. So we thought we'd take this opportunity to update you on what is going on with certain aspects of her life and general health.

Seizures - Seems like the logical place to start, since they (unfortunately) are such a big part of her life. Sadie is still having between 5-10 clusters of seizures a day. Mostly occurring when she is waking up. The clusters can last up to 10 minutes and vary in intensity. Relatively speaking, this is a better place than where she has been previously. We've now tried nine seizure meds (yes, nine), and have come to the conclusion that it is unlikely that we'll see significant improvement with medication changes alone. So we have been exploring surgical options. More on that to come.

Oxygen - Sadie has been off oxygen for about 2 months. (Yay!) She receives chest physical therapy (CPT) as well as an inhaled steroid (Flovent) twice a day. Chest PT is administered by tapping on her lungs with a little oxygen mask. It works to keep her lungs open and air moving freely. It's such a relief not to cart around oxygen tanks everywhere we go! We've even weaned ourselves off the pulse oximeter monitor (during the day, at least, she's still on it at night).

Eyes - Sadie's last MRI showed a growing cyst behind her right eye (the smaller eye). Her opthomologist will monitor the cyst by viewing her MRIs every 6 months. He is not terribly concerned and advised us that if it does create a problem, he can easily drain it. We did discover some good news recently with the help of Sadie's vision therapist. We now suspect that she does have some light perception in her right eye. Her therapist patched the eye with good vision and waved a light stick in front of Sadie. She promptly reached out and grabbed at it - much to our astonishment. Go Sadie!

Therapy - Sadie's therapy schedule is still going well. She is making strides with her therapies, and we've continued music therapy, and even added a massage therapist once a month! (Too bad massage therapy isn't also for mommy!) Sadie has also been using her stander during physical therapy. The stander is equipment that keeps her upright in a standing position. She stands for about two hours total every day. Because she isn't bearing weight on her own, the weight-bearing position helps for better development of her bones and joints. (The photos above show some of Sadie's activities during physical therapy (standing, sans stander) and swinging in the gym at the therapy center.)

Ketogenic Diet- Sadie has now been on the Ketogenic Diet for the past 15 months. We continue to measure out her food to the precise gram. She is taking her bottle pretty well, and we'll start to transition her onto a sippy cup soon. We've hit a stumbling block trying to get her from pureed foods to foods with a bit more texture. The high fat ratio of the Ketogenic diet has provided some challenges with transitioning to foods with more texture - there are only a few things that have such a high fat content. We're using a few recipes (such as a pancake made with her KetoCal powder, or a little bit of chicken mixed with mayo and avocado). She'll hold the chicken or pancake in her mouth, but won't chew or swallow. We're seeking out some supplemental feeding therapy from Children's Memorial to see if we can overcome this hurdle.

Sleep - Sleep is still a major challenge with Sadie. Her naps during the day rarely last longer than 20 minutes, then she is awakened with a seizure. After 18 months of not sleeping through the night, we put her on a medicine called Neurontin, which has helped slightly. She is still awakening at night with seizures, but will typically go back to sleep. Unfortunately, she rarely sleeps past 6 am. The past few nights, she's been up for the day at 4:45 am and 5:30 am respectively. We are considering hiring a night nurse to monitor her seizures at night so we can get some rest.

Surgery Update - We're still waiting on some test results requested by the doctors at Cleveland Clinic. We're planning another visit to Cleveland in the next month for a consultation with the doctors. If everything goes well, we'll likely schedule Sadie's brain surgery for the beginning of next year.

We're hoping that the upcoming Holiday season continues to proceed smoothly for Sadie. Please pray for no hospital visits or unexpected illnesses. We want to keep that medical record binder as thin as possible!

That's How I Roll.

Well, we figured out the mystery from the last blog post. Like I mentioned, for the past few weeks Sadie had been acting restless and was just not her smiley, interactive self. Feeling exhausted and defeated, we took her to the ER at Children's upon the advice of her pediatrician. Boy am I glad we did. Her bloodwork showed that her Dilantin level was 3x higher than it should be. Dilantin toxicity is the official term. Symptoms include darting eye movements, dizziness, nausea, etc...this explains why Sadie had been out of sorts.

She was admitted to the cardiac floor where they did a STAT EKG to monitor her heart. She was in the hospital for a total of 4 days until her Dilantin level dropped back into the normal range. Dilantin is a tricky medicine to get a good level in kiddos due to the fluctuation in metabolism. But, we are hesitant to give it up since it's one of the few medicines that has had a positive effect on her seizures.

We are excited to have our Sadie back. She has been giving Mommy and Daddy wonderful toothy grins lately. While visiting her Grandma last weekend, she rolled over for the very first time! Of course she did it while Mommy was out of the room...but we were able to capture it in the video above. Now that two of her grandchildren have rolled over at her house for the very first time, Grandma is convinced that Grandpa Chris in heaven is giving the babies a little nudge.

We've also just returned from our visit to Cleveland Clinic with Sadie. We'll post more about the experience later this week. For now, we're cherishing the moment we are in with Sadie.

Desperate Measures

Since my last blog post, Sadie's seizures have gotten significantly worse - the twitching episodes are now happening every 2-5 minutes. After giving Diastat 3 times in 48 hours, we felt uncomfortable managing the seizures at home, and decided that she needed to be in the hospital. Upon our arrival to the ER, Sadie was given a dose of phenobarbitol to calm her brain activity. The medicine completely knocked her out. We were hopeful that it would give her some much-needed rest and seizure relief while allowing for the prednisolone to take effect.

Let me backtrack...after 10 days of crazy seizure activity (every 5 minutes,) we decided to start a steroid treatment, prednisolone. We had previously rejected the steroid route due to their intense side effects - suppressed immune system, irritability, increased blood pressure, weight gain, etc. Also, steroids are typically a short term treatment and sometimes the seizures come right back once treatment ends. Well, after dealing with seizures all day long, we were desperate for anything that might help.

So...back at the hospital...once the phenobarb wore off, Sadie's seizures returned. It seemed that the more mild steroid treatment (prednisolone) was not working. Time to call in the big guns. Desperate times call for desperate measures. Sadie starts her ACTH treatment tomorrow. ACTH is another steroid treatment that we had previously dismissed due to all the scary side effects listed above as well as a high mortality rate due to illnesses contracted because of a suppressed imune system. It was a difficult decision, but we feel like we need to give this a try for Sadie's sake. Our list of options narrow and the choices after ACTH are pretty shitty (excuse my french)...and would include possible hemispherectomy (removing part of Sadie's brain.)

I hope the day is close in the future when I will be able to share some positive news. Thanks to everyone for your contiued support.

P.S. The photo above is my view from my hospital chair...where I get very little sleep.

Home Sweet Home. Sleep Sweet Sleep.

Sadie has been home from the hospital for about a week. She is still struggling with kicking this recent respiratory virus. At her pediatrician's request, she is now the proud owner of a pulse oximeter and a nebulizer machine. We will use the pulse-ox at home to monitor her O2 levels should she get sick again. We've been using the nebulizer machine to give her albuterol breathing treatments three times a day. We'll continue with the treatments until the virus works its way out and her breathing returns to normal.

While in the hospital, we finally weaned Sadie off of one seizure medicine. While Clobazam looked promising at first, it seemed to be having an adverse affect, as Sadie's seizures went up with each increase in dosage. Once we backed off the dosage, her seizure activity went down. We also started Sadie on Dilantin when she was having a rough time with seizures at the hospital. I hesitate to say that her current seizure medication cocktail (dilantin, vigabatrin, topomax and clonazapam) seems to be showing some improvement. The seizures are at their lowest level. She still has episodes daily, but we've gone from 20+ seizures a day down to 3-5. Our next step is to slowly wean a few of these meds that we're not entirely sure are working, something we've been wanting to do for quite some time.

We also received some troubling news a few months ago that I didn't feel comfortable blogging about at the time. The doctor noticed some new brain abnormalities in Sadie's recent MRI. According to the doctor, there were a few areas that showed some "disbursed white matter." She said the changes looked consistent with a mitochondrial or metabolic disorder. "Instead of her Aicardi diagnosis?" I asked. "In addition to her Aicardi diagnosis," she responded. Wonderful.

This time around, I did no googling, no researching...I simply just ignored the fact that our daughter was being tested for an additional disease and kept on living. As a friend so wisely stated, "no point in going down paths that aren't yours."

I've come to the conclusion that we are the big losers when it comes to the battle of the odds. If a medication has a extremely rare side effect, Sadie is bound to get it. As it turns out, that's what the doctors think is happening with these MRI abnormalities. So far, all the mitochondrial and metabolic tests have come back within normal ranges. So that leaves the medicine. Apparently, one of Sadie's seizure medications, Vigabatrin, can cause MRI abnormalities that are similar to those shown in Sadie's MRI. The problem occurs with high doses and when children are very young (check, check). The good news is these abnormalities often revert back to normal once the medication is weaned. So, the plan is to slowly get her off vigabatrin and hope it is a transient finding and the MRI goes back to its original state.

We are overjoyed to be home after our 7-day stay at Children's Memorial. Sadie has been delightful this week. Smiling, chatting, happier than we've ever seen her. She dove headfirst into her therapies this week and did a great job. The picture above was taken during one of her monthly music therapy sessions. She liked the rain stick toy, but she liked her therapist's diamond ring even more. Smart girl.

The only trouble we've had with her is sleep. The girl simply doesn't sleep. And when I say that, I mean she is up about every hour at night. I found that one side effect of dilantin is insomnia. However, I'm not willing to give up seizure control for sleep. Insomnia combined with the coughing make for long nights for the McCann clan. We've been encouraged by her doctors to explore melatonin, which is a mild, naturally-occurring sleep aid for children. With all the medicine that she's on, we've been hesitant to add one more thing...but give us a few more nights and we may be there. For now, we thank God for espresso.

A New Set of Problems.

Sadie was finally released from the hospital on Saturday, eight days after first arriving - well, nine if you count the day she was there for her MRI.

I'll start where I left off. On Day 5, we were moved from the PICU to the 9th floor. I have to say, while we have always been impressed with the personnel at Children's Memorial Hospital, there is a level of care and attentiveness that Sadie received in the ER and PICU that we didn't see once we were moved to a floor. Our stress level rose knowing that there was no longer a nurse right outside her door all night. I understand that this is to be expected as your child's health improves, but there is something comforting knowing that a trained medical professional is keeping an eye on your child while she sleeps.

It also didn't help that our trip to nine started with Sadie crying out in pain, then the seizure cycle started up again - and for the second time during our hospital stay, she was given Ativan (a seizure suppressant/sedative) to calm her down. The exploration for the acute pain began. The doctors x-rayed her belly, which was puffy with air from being on the ventilator and high-flow oxygen. Sadie also received an ultrasound to check for kidney stones. She again began her pain cry/seizure cycle the next day, and again Ativan was administered.

We wracked our brains looking for an answer. One of the nurses suggested that perhaps her tummy was upset from not having food for so long, so we started her on Zantac for acid reflux. She seemed a bit better and the pain cries went away. Mystery solved, or so we thought...

So, we've been back at home for a few days now. Sadie seems to have kicked RSV, but with one resolution comes a new set of problems. Her seizures are again on the rise - occurring every 30 minutes or so. She's also been quite irritable lately and has been crying out for no reason. We suspect it's her new medicine, which can cause irritability. We see her neurologist this week and hope to have some resolutions.

P.S. Last week, another Aicardi Family, the Verdecchia's, were profiled on The Today Show about their daughter's brain surgery. Here is the link to the story. We were planning to write a post about this, but our friend Neil Pasher beat us to it. His question is one that resonates with us as we make difficult decisions about Sadie's care. Read his eloquent blog post.

Another year, another hospital visit

Just as soon as things got better, they got worse. Sadie was at Children's Memorial Hospital for an MRI last Thursday. Despite receiving a bit of oxygen following the procedure, she was fine. We were home on Thursday night and she went right to sleep.

Friday morning, Sadie arose with horrible breathing, coughing, and irritation in her throat. She had received a tube in her throat during the procedure, so we thought it was irritation from the tube. As her breathing progressively worsened, we decide to take her into the ER.

We again found ourselves at CMH. After a quick assessment by the triage nurse, they rushed her into one of the larger operating rooms. Doctors and nurses quickly started working on Sadie. In the time it took for Adin to park the car, about 20 medical professionals had filed into the room. It was quite scary. They first put her on a mask with a breathing treatment, which seemed to clear her airway. They also gave her a steroid to stop the swelling in her throat.

She seemed fine for a few hours, then the seizures started. One cluster, the two, then three...they progressively got worse until she was almost status epilepticus (a state of nonstop seizure). She was given a sedative to stop the seizure, but it was not terribly effective. The doctor decided to give her a dose of fosphenytoin, a paralytic, to stop the seizing. In order to administer the med, the had to intubate to protect her airway. That procedure was even scarier, at least 5 doctors and 20 other medical professionals raced into the room for the intubation.

So began our hospital stay. They determined that Sadie had a virus called RSV, which most likely was the cause of the raspy breathing. RSV is a cold-like virus that can be very serious in infants. The breathing tube stayed in for a few days, we were very relieved when it was removed without incident a few days later.

We write this from the bedside at Children's Memorial and hope to have Sadie back at home very soon.

Trying Times. A Christmas miracle.

We've been delaying our Christmas update, as were waiting to see if there would be good news to report. Unfortunately, that is not the case. Sadie had a pretty rough holiday season. Her seizure activity began to increase a few days before Christmas. We've been slowly tapering one of her seizure meds, Topomax, in the hopes that we could get her off of one of the three medications and increase her alertness. She's been on Topomax since she was first diagnosed with Aicardi Syndrome, and we haven't been entirely convinced that it is working. Additionally Topomax is not an ideal medication in combination with the ketogenic diet as it can cause kidney stones. So, a few days before Christmas, we started to decrease her dosage. A few days later, her seizures increased 7-10 clusters of a day to 10-15 clusters a day.

We didn't want to jump to the conclusion that Topomax was working. Unfortunately in children with seizure disorders, so many other factors can play a role with seizure increases. For Sadie, it could be the change of routine with traveling, the fact that she was running a low-grade fever around Christmas, coming down with a slight cold around New Years, etc. Our New Years Eve was spent on the phone with her neurologist, and we're working on tweaking the Depakote dosage to see if we can get more seizure control while keeping Topomax at the same level for the time being. Needless to say, we're frustrated and continue to hope that someday soon we'll see an improvement in Sadie's seizures.

While experiencing trying days and nights over the past few weeks, our holidays were also interspersed with a few moments of pure Sadie happiness and joy. She had many moments where she would talk, squeal, giggle, smile...were it not for these moments, we'd be having a much harder time. Of course, our little girl was also showered with love and affection from a host of friends and family. It will take three trips to get all of her gifts and clothes back to our house! Her closet continues to expand.

In addition to the seizures, we've also been battling with some bowel movement issues with Sadie. Warning to readers who may get squirmy when hearing about poo, you may want to skip this paragraph. I feel like the topic of poop has come up way too much in our household lately. It's been about 2 months since Sadie has pooped on her own...that is, without the help of a glycerin suppository. We actually had to give her an enema last week to get her to go, after three suppositories didn't work. Talk about stress. We're not sure what to attribute it to - the ketogenic diet, which can be constipating or the fact that she is taking three sedating seizure medicines, or a combination of both. We've tried everything - miralax, milk of magnesia, prunes, senna, baby massage, reflexology. Day four after reducing her Topomax doseage, Sadie had a bm without help of a suppository. Adin called it a "Christmas Miracle."

Because of these issues, we've added yet another doctor into the mix. Sadie had her first appointment with a GI specialist at Children's Memorial. This month will be a busy one for little Sadie. She'll have another MRI to monitor her choriod plexus papilloma tumor. We also have an appointment at Easter Seals to get her fitted for a specialized stroller and potentially a special car seat.

So, we'll stay hopeful that 2011 will bring Sadie better seizure control, more moments of pure joy and happiness, and the knowledge that she is loved and adored by many people.

No news is bad news. The roller coaster.

I've found that its much easier to update the blog when there is good news to share. Unfortunately, the past few weeks have been quite trying for little Sadie.

Last Monday we made a second trip to the ER. When Sadie was up all Sunday night crying, we figured something was up. We drove her, again, to the ER at Children's Memorial who found that the corneal ulcer was irritated again. We've increased her eye drops and it seems to be healing up fine. Ugh...

Sadie's seizure activity had been decreasing, then last week, for no apparant reason, she started to have more clusters. We've been speaking to the neurologist and dietician, but we can't seem to pinpoint the issue. We're again increasing medications and talking about adding additional meds. At this point, Sadie is on two different seizure medications (Topomax and Vigabatrin) as well as three other medicines to deal with various side effects of the seizure meds. With medicines, special powdered formula, a gram scale - our kitchen counter looks like a pharmacy...or a meth lab.

In the midst of special diets, seizure meds, and eye drops - our little girl is developing quite the personality. She prefers Beyonce to nursery rhymes (Halo is her favorite). She also has developed a liking to Katy Perry's "California Girls." She talks up a storm and moves her mouth trying to talk when she looks at us.

All of her therapies are now in full swing. Sadie has Physical Therapy (PT), Occupational Therapy (OT), and Vision Therapy (VT), once a week. She also meets with a Developmental Therapist once a month to get an overall assessment on how she is developing. We've been working with her OT to get her left hand caught up with her right. Due to the damage on the right side of her brain, the left side tends not to function as well. Last week, she discovered that she can move her left hand to her mouth and will grasp both hands in front of her!

Sadie has a full schedule this week. Her four month appointment with her pediatrician was on Monday. She meets with all of her therapists this week. On Thursday, we'll be at Children's Memorial for an MRI of her brain as well as an appointment with her opthomologist to get an update on how the corneal ulcer is healing and what the next step is for the conformer. The MRI is to monitor her choroid plexus papilloma, a tumor in her brain that can cause a buildup of spinal fluid in her brain. She will get periodic MRIs to monitor the growth of the tumor.

The doctors continue to monitor her progress closely. Our moods are predicated on how well Sadie is doing. If she has a bad day, we have a bad day. If she has a good day, we also do. We had heard from other Aicardi families that the first year is the most difficult. It's a roller coaster of emotions. We just wish that the dips on this coaster weren't so low.

What a week...And it's only Wednesday

We finally thought that things were leveling off. Sadie's seizures had been decreasing since being on the ketogenic diet. Pre-diet she was having between 15-20 clusters of seizures a day consisting of 80-100 spasms per cluster. Post-diet she now has between 3-7 clusters a day with 20-50 spasms per cluster. We never thought we'd be happy to say that our daughter only has 5 seizures a day, but I suppose it's all relative, right?

The dietitian and neurologist are still tweaking meds and diet ratios a bit to see if we can get more seizure control. The unfortunate thing about seizure meds is that it takes time to see the full effect of the medication, and if it doesn't work, it then takes time to wean off the medicine - stopping cold turkey can be dangerous. So, needless to say, this process can be arduous.

Last week of August - we were happy to finally have a week without a doctor appointment - the first time since Sadie's birth! Unfortunately, Sadie had other plans for us. On Monday, she began to cry inconsolably. After about four hours of her crying out in pain, we took her to the pediatrician, who recommended we head down to the ER at Children's Memorial.

The ER doctors did a battery of tests - bloodwork, urine sample, ultrasound to check for kidney stones or some sort of blockage. Everything came back negative, and Sadie was still quite unhappy.

Finally, the doctors decided to take out the conformer in her eye and check for a scratch. When the opthamologist pulled out the conformer, they found the problem. She had a corneal ulcer on her eye. Basically, this can happen when your eye gets irritated or scratched and the scratch fails to heal itself. The doctors told us that it can be quite painful. Damn conformer. So, Sadie is now on medicated drops to clear up the ulcer.

Two pieces of good news since the last update. We *think* insurance will be covering Sadie's KetoCal formula. It only took 10 phone calls and three letters of medical necessity. I'm still sceptical until I actually see a paid claim.

Second, we bought a house! Yes, the same day Sadie went into the ER, we made an offer on a home in Des Plaines, IL. The home search has taken some time due to a few limiting factors. We were only looking at one-story homes due to Sadie's potential for mobility issues. Many of the ranch-style homes available were built in the 50's or 60's and haven't been updated much since then. We wanted something updated with a more open floor plan. Second, we were looking for easy access to a Metra station for Adin's commute, as well as a suburb that was close to downtown for our visits to the hospital. Luckily, we found a great updated, one-story house that fit all of these criteria. We're happy to finally be in our own home again after a year of renting.

The adventure continues...anyone up for helping us move at the end of September?

From bad to not so bad. Yay for ketones!

The last week of July things went from bad to worse. Sadie had been on vigabatrin, her new seizure medicine, for about two weeks. The medicine seemed to have an adverse effect, as her seizures started INCREASING. Each time the doctor would increase her meds, her seizures would go up. The increased medication was also making her drowsy. By the last weekend in July, her only awake time was when she was having spasms.

We were on the phone with the neurologists every day talking about scary remedies, from administering diastat (an emergency medication given rectally to stop seizures), to admitting her to the hospital to begin ACTH, an injectable steriod treatment. We had already decided that ACTH had too many scary side effects for us to try, one of which is possible death. So we were stuck with a baby who is constantly having seizures.

On top of the seizures, Sadie had a conformer put in her eye last week, and the conformer ended up scratching her cornea. Back to the ocularist to get it taken out, and then to the opthomologist to get medicated drops. Ugh. If only I could get paid for coordinating doctors appointments.

Needless to say all of this was super stressful. We were at the end of our rope when the hospital called to tell us they were able to get her in to start the ketogenic diet right away. Sadie was admitted on Monday. She received her first bottle of KetoCal (a special ketogenic formula) on Monday night. It smells like a vanilla milkshake. Sadie loved it...but of course she's never turned away food. We anxiously awaited the arrival of ketones in her urine, which indicates that the diet is working. I don't think I've ever looked forward to diaper changes as much.

Monday and Tuesday went by without ketones. Sadie's seizure activity held steady. She had a few scary episodes at the hospital, one of which lasted 50 minutes. FINALLY late Tuesday night she had a trace of ketones in her urine. Yay! The doctors came in saying they wanted to pop the champagne.

Speaking of the doctors, I can't say enough good things about the staff at Childrens Memorial Hospital, many of whom are aware of sadie's condition and pulled strings to get her in earlier to start the diet. Sadie was released from the hospital on Thursday night and seems to be getting better, slowly...

We are cautiously optimistic.