Monday, October 31, 2011

And the Verdict Is...

Rather anticlimactic. We heard back from Cleveland Clinic a few weeks ago. The docs want to conduct more testing on Sadie to explore the possibility of a metabolic or mitochondrial disorder on top of her Aicardi diagnosis. I mentioned to the doctor that we've gone down this rabbit hole before and come up empty-handed. See previous blog post. So, we're in another waiting game as they review the testing that was done on Sadie a few months back.

Ultimately, Cleveland Clinic believes that they could remove part of her right hemisphere of her brain, the area with most malformation, and yield positive results. However, they want to explore the metabolic/mitochondrial stuff before proceeding. This means we have a little more time to make what will likely be the most important decision of our lives. Unfortunately, it also means that Sadie may need to go through another round of testing. In the meantime, we are becoming more and more impatient as we await doctors to review tests. Have I mentioned that patience is not a virtue I possess?

In the meantime, Sadie is rolling like crazy, and has even started to put some weight into her knees and get her bum up in the air...which is a precursor to crawling! These recent acheivements are likely due to her weekly therapy schedule, and some new therapy gear.

Every morning, Sadie "suits up" in her therapy gear - she wears a SPIO vest under her clothes. The SPIO vest is a compression garment that looks like a little scuba suit. The vest provides her with compression on her trunk so she can start learning to utilize her muscles to sit up on her own. She also wears fancy shorts called "hip helpers." The hip helpers look like biker shorts that are connected in the middle. They help kids with low muscle tone to help their hips develop properly. Finally, she just got AFOs (Ankle Foot Orthotics). They are leg braces that will help Sadie as she begins to bear weight on her feet. Sadie's are pink (of course.) She wears all of this therapy gear every day under her clothes. While it is a pain to put all of these pieces on each morning, we know that they will help Sadie as she grows and develops.

Sadie has also undergone quite a bit of testing this month. A few weeks ago, she had a Urodynamics Study. Her urologist ordered the study to investigate why she has had recurring UTIs (four this year!). We are still awaiting the results, but based on the lab techs comments, she does not reflux urine into her kidneys (this is a good thing), and she is emptying her bladder completely (also a good thing). However, she does tend to hold A LOT of urine. She was able to hold close to 6 ounces during the test.

Sadie also finally had her FEES study. We had to reschedule a few times while Sadie was in a rough patch with her seizures. Similar to a swallow study, the FEES study evaluates swallowing of food and liquid. Sadie performed remarkably well during the study. A small camera was inserted through her nose and down her throat, the camera then watches as she swallowed liquid and baby foods. Unfortunately, the FEES study found that she still aspirates thin liquids, but luckily, she is still able to handle her thickened formula and pureed foods quite well.

On a sad note, we learned this week that another Aicardi family lost their little angel at the age of 12. It always hits us hard to hear this. Additionally, an Aicardi family who we are close to are again in the PICU with their little one. Dad writes a lovely blog, which I have shared before. Sadie has coded once in her life - in February when we were in the trauma room of the ER - and I hope it never happens again. This father's recent post speaks of the crazy place in which we live where we hold our breath each time we step out of our child's hospital room.

We are again reminded to appreciate the little things in life - like Sadie's beautiful smile, the joy we get seeing her roll onto her tummy, and her feisty nature. It makes the waiting game with the doctors a little more bearable. And we are grateful for each day we have to share with her.

Tuesday, October 11, 2011

Meanwhile in Cleveland...

We recently returned from a visit to Cleveland Clinic. On our way to Cleveland, we stopped in South Bend for a family wedding. Sadie loved interacting with everyone at the wedding - the photos above are from the cocktail hour.

The purpose of our Cleveland visit was to get a second opinion on Sadie's treatment and to see if the docs there would recommend her for surgery. The facility at Cleveland Clinic was breathtaking...a lobby filled with beautiful artwork - even a few Plensas, and a lovely rooftop terrace with views of the Cleveland skyline.

On Day One, we met with Dr. Elaine Wyllie who heads up the Epilepsy Center at Cleveland Clinic. Dr. Wyllie said that their team will only recommend surgery if they truly believe it will be helpful to Sadie. If surgery is not offered, they will provide their input on her treatment and other options to consider. Our goal all along has been to allow Sadie to have the best developmental outcome possible, so that worked for us. After our meeting with the doctor, Sadie checked in to the Epilepsy Monitoring Unit to be hooked up to the Video EEG for the next four days.

The Video EEG process at Cleveland Clinic is quite thorough. From the placement of the sensors on her head, which was precisely mapped out with a measuring tape, to the re-application of sensor conducting gel...the process is quite intensive. As with Sadie's previous video EEGs, we press a button each time we see a seizure. Each time the button is pressed, at least 4 people rush into the room to note the seizure presentation, as well as to ensure the video is capturing the movement accurately. The techs review the entire EEG, both push-button and non-push-button events and note any abnormal activity for the doctors.

We had been informed by our docs at Childrens that Sadie has no sub-clinical seizures (i.e. seizures that we do not see...with no physical presentation.) While her brain waves are a little messy on her EEG, the lack of subclinical seizures was re-confirmed at Cleveland Clinic, which is comforting to know. They did mention that her brain waves during sleep are pretty active, which could explain her horrible sleep patterns.

For at least two hours after Sadie was admitted, a steady stream of hospital staff was in and out of the room - doctors, nurse practitioners, dietitians, technicians. The anesthesiologist reviewed instructions for Sadie's PET scan the following day - no food after 4 am. This presents a challenge as all her meds are given in a bottle of formula at for each day we were there, we were waking up at an ungodly hour to feed her and give meds. We had to laugh when the nurse, seeing Sadie asleep at 8 pm on the first day, asked "So, is she out for the night?" Don't we wish!

Sadie's first test was a PET Scan. A solution was injected through her IV. The tech mentioned that they would monitor her awake brain waves for 30 minutes prior to going under anesthesia. I swear, as soon as she heard that she needed to stay awake, her eyes promptly shut. That's our Sadie for you...always battling authority. This started a 30 minute circus act of mommy loudly singing songs, playing with toys, wet washcloths, tummy time...whatever I could do to keep her awake. Unfortunately, I was only moderately successful.

Sadie was put under anesthesia for all three of her tests. On Wednesday, Sadie had her first ICTAL SPECT test. For this test, a radioisotope was injected via IV at the onset of a seizure, and her brain was scanned to determine where the seizure originated. On Thursday, the same test and scan was conducted during non-seizure brain activity to get a baseline. We were informed that the radioactive isotope would leave Sadie's body through her urine, so she had blue radioactive diapers for 48 hours.

This morning of Sadie's first Ictal SPECT test, the nurse sat by Sadie's bedside and waited for seizure activity. Luckily for her, Sadie cooperated and had a seizure in the first 30 minutes. Unfortunately, when the nurse injected the radioactive isotope, a little of it spilled out of Sadie's the docs needed to calculate how much got into her system. So, this took a little more time, but it also got Sadie into anesthesia for the scan a little quicker.

Before we left Cleveland, the doctor revealed that she thinks surgery might be an option for Sadie. She was initially cautious about surgery because her brain abnormalities are in both hemispheres, and she shows abnormal EEG activity from both sides. But she mentioned that based on the test results she's seen thus far, she thinks she can identify an area of the brain that could be removed to improve her seizures and developmental outcome, while preserving most of the vision in her left eye.

Vision has always been one of our major concerns with surgery. Removing the right hemisphere of her brain would also impair the vision in her left eye - the eye that has good vision. Sadie gets such pleasure from visual interaction, we are hesitant to take this away...even partially. Of course this is a preliminary assessment, and we will hear their final recommendation after the entire team has had a chance to review her info during their Patient Management Conference.

So now we wait...

Overall, we were very pleased with the staff, nurses, and doctors at Cleveland Clinic. We are anxious to hear the final set of recommendations this week after the doctors' conference on Tuesday. Sadie definitely earned an "S" on her chest - which will make her Supergirl Halloween costume even more appropriate this year.

Monday, October 10, 2011

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.