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.

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 only thing constant

Recently, I've felt like the only thing constant is change. We're aching for some regularity in our lives. Seizures are changing, medications are changing, feeding is changing.

Some changes are for the better....

Like Sadie is now taking all her nutrition by mouth. NO MORE NG TUBE! She is excited about the bottle, excited about solid foods...NOT so excited by her medicine syringes. So we've been experimenting with different methods of getting the medicines in her belly. What complicates the issue is the thickening of the liquid. As mentioned in the previous blog post, Sadie's swallow study showed that she aspirates thin liquids and all of her medicines are thin liquids (compounded liquid or crushed tablets mixed with water.)

Another positive change is Sadie's EEG. She had another video EEG study done last week to look at her brain waves. Sadie's neurologist reported that her recent EEG showed "more organized brain activity."

We are also happy that Sadie is slowly shedding her cords. She has been doing great off oxygen during the day. She even gets through her daily naps off O2. She is, however, still needing a trickle of oxygen at night. But we hope to get rid of the nasal cannula soon! I can't say when we'll be comfortable taking her off the pulse oximeter. There is a certain level of comfort in knowing her heart rate and oxygen levels at all times...but I know that in order for us to live a more "normal" life, we'll have to get rid of it soon.

Some changes are for the worse...

Sadie's seizures are still a little out of control. We've had to use diastat five times in the past six weeks. The most recent episode happened while her aunt and I were out shopping. Sadie began to have a seizure that lasted upwards of 20 minutes. We quickly headed to the car and administered the Diastat in the back of the minivan. As we headed home, her O2 levels dropped quickly and she became unresponsive. We gave her some emergency oxygen, but the O2 levels only rose into the mid-90s. So, we again found ourselves in the ER at Lutheran General. By the time we arrived, Sadie's O2 levels were back up, but she was a little woozy from the Diastat.

Luckily, this time we were released within a few hours. The docs found that Sadie's Dilantin level was high (33.6). Therapeutic range is from 10-20. If the level gets too high, it can cause increased seizures. So, we're working with the doc to reduce her levels. We also started a new medicine this week, Ospolot. Ospolot is not yet FDA approved in the US, but is used to treat seizures in Europe. Clinical trials look promising for Sadie's seizure types. One of Sadie's Aicardi friends, Josie, has used the medicine for years and it has worked well. We are hopeful that this new medicine will also work for Sadie.

We had Sadie out and about in the past few weeks. The photo above shows us at the finish line of the Epilepsy 5K Walk. Sadie also enjoyed her very first tea party for her friend Carmen's fourth birthday! The photo above shows Sadie in her fancy party dress with her Mimi. (Can you tell she likes her hands?)

The changes remind us not to get too comfortable. So, Sadie's journey continues as we change course...and change course again.

The Little Things. A Dash of Realism.

Much has happened in Sadie Land since our last blog post...swallow and sleep studies, a glorious period of seizure freedom, and a lot of new activity.

Sadie had her sleep study last week. The premise of a sleep study is to evaluate sleep patterns and determine if any sleep disorders (such as apnea) exist. As you can see by the photo above, multiple wires and sensors are placed on the body to evaluate breathing, leg movement, jaw movement, EEG patterns, etc. It's no wonder that Sadie slept horribly during this study. She was also recovering from a bad cold, so she was already a little congested. She slept about 4 hours that night.

When the nurse called to give the report, she informed me that no apnea was detected, but Sadie needed a little bit of oxygen (big surprise) and never got into REM sleep.

I asked, "Does apnea sometimes show up only in REM sleep?"
Nurse: Sometimes
Me: So do we have to repeat the sleep study once she's better and off oxygen?
Nurse: That probably isn't a bad idea.
Sigh...

I also asked for a copy of the report. It amazes me how much medical jargon is included in these reports. You'd think it was a contest between doctors. Example, the title of the sleep study report - "Nocturnal Polysomnograph Report." Interpreter, please.

Sadie's seizure activity has been all over the place in the past few weeks. She'll have a few good days, then a few really bad ones. Strangely enough, two weeks ago, the seizures stopped entirely. No medications were changed, nothing...we had 6 beautiful days of seizure freedom. Then the seizures came back 7 days later. We had to administer diastat (emergency med) after she had a long seizure that didn't go away after 40 minutes. It was a hugely disheartening.

Because the seizures now are looking a little different than even a few weeks ago, the doctor ordered another video EEG to determine if she is having different seizure types. This information helps the docs determine which medications will work best.

In positive news, Sadie is slowly coming off oxygen. She can go most days without. We do still have to put her nasal cannula in for naps and at night. Sadie has also delighted us the past few weeks by doing some pretty amazing things.

Reaching for and grabbing a toy - The past few weeks, Sadie has gotten pretty good at reaching and grabbing. I know she is interested in a toy when she lifts her right arm immediately when I bring the toy in front of her. She has started to grasp a few toys as well, even pinching some between her thumb and finger. This is a huge accomplishment. Previously, she wouldn't grasp at all and toys would simply fall out of her hand. She's still working on her grasp with the left hand, but I think she'll get there.

Because of this recent interest in toys, we've enrolled Sadie in Lekotek. Lekotek is an organization that helps families with special needs children learn how to play with toys. They have a variety of different toys that are more accessible to kids with special needs. Sadie has a hard time playing with toys due to her low muscle tone and lack of coordination. She can't press buttons on toys like most kids - many of the Lekotek toys are attached to switches which make them easier for Sadie to use.

Rolling over (almost) - Sadie can now get herself up on her left side. It's actually her preferred sleeping position. She'll wind up and flip her right arm and leg over her body - she has yet to fully roll onto her belly, but she has gotten her entire body over except for her head.

Eating - Sadie actually cooperated and we got through swallow study last week. The good news is, she was awake and swallowed her food. The bad news is she is aspirating some of it. The x-ray showed that some of her formula was getting into her lungs. The solution for the time being is to thicken her liquids. We are using a thickener called Simply Thick, which makes the formula the consistency of a thick nectar. The thicker liquid is more difficult to aspirate. We have an appointment to visit a feeding clinic at Easter Seals this week, and we'll work closely with her feeding therapist to tweak her feeds in the coming weeks.

We started to feed her orally the evening after the swallow study. She was a champ with the solid foods and took them great. Tears of joy filled my eyes as she began to suck on her bottle again. For parents of "normal" children, these proud tears are reserved for graduations, little league games, piano recitals, first proms. As parents of a special needs child, it's these small things that keep us going and give us hope.

There many people who say "you'll never know what she'll be able to do." And, while we appreciate the optimism, we have to temper it with a dash of realism, otherwise, we'd be constantly disappointed.

For Sadie, it's the little things that make us so happy - (almost) rolling over, giggling, sucking her bottle, reaching for a toy, grasping an object. We hope for more of these small achievements in the coming weeks.

Sadie Time

We always joke that Sadie works on her own schedule - "Sadie Time." I have to laugh when people ask me questions like "When does she typically nap?" "What's her schedule?" The girl does what she wants, when she wants. We do our best to have her awake and alert during the day, and keep her sleeping at night - but most of the time, even this proves to be a challenge.

Case in point, we've now had to reschedule her swallow study twice. The first time around, she came down with a cold, so we cancelled and rescheduled for a week later. The second attempt proved beyond a doubt that Sadie is in charge. Despite sleeping relatively well the night before and getting in a good morning nap, she simply refused to wake up for the 1 pm swallow study. We tried taking off her shirt, putting a wet washcloth on her face, turning the lights up high, playing music, etc. The more we tried, the more she slept.

So frustrating when there are three technicians, a speech therapist and doctor in the room all asking why she's not waking up? Isn't she hungry? Did she not get a good nap? I wanted to scream at them and tell them that she does things on her schedule - and four seizure medications doesn't help either. Arrrghhh...

We attempt the swallow study again on Tuesday. I'm fearful because she hasn't taken anything by mouth for the past month, that she's lost some of her swallowing ability. I guess we'll know for sure on Tuesday (if Sadie cooperates.)

Sadie has been having a hard time keeping her oxygen levels up on her own. This week will mark one month on oxygen and the NG feeding tube. We had been slowly weaning her off the O2 when she came down with a slight cold and we had to boost her up again. After speaking with her pulminologist last week, she suspects that Sadie's low O2 levels may be the result of her having a difficult time coughing stuff up. Apparently this is a problem for many kids with low muscle tone. I have an appointment with a respiratory therapist next week to learn how to do chest PT, which will help with this. My nursing repertoire expands.

The pulminologist also suspects that Sadie may have sleep apnea. So, they will conduct a sleep study in the next few weeks where they will observe her overnight. Perhaps this will finally answer our question about her horrible sleep patterns.

If that wasn't enough, this past month her seizure activity has been up and down. She'll go for a few days having very low seizure activity (2-3 is a good day for Sadie.) Then, out of nowhere, she'll have a day where she'll be seizing every 3 minutes. We've had to give diastat (her emergency medication) twice in the past month. The seizures have been looking a little different lately as well. Instead of her typical infantile spasm "crunches," she's been having seizures that look more like your standard seizure (some shaking/trembling, eyes rolling). These look a little more frightening than her old seizures.

I was a little (OK, a lot) disappointed that Sadie had all of her cords attached for her first birthday party. But as you can see in the photo above, she looked adorable and had a wonderful time with friends and family.

We forge ahead, hopeful that we can get her off of oxygen and the feeding tube very very soon. Which, Sadie will do when SHE is good and ready.

P.S. Sadie's Journey now has an option to "Follow by E-mail." To receive e-mail updates with new blog posts, enter your e-mail address in the field to the right.

The Wrong Side of the Crib. Team Sadie.

Since Sadie's been home from the hospital she's been a little crabby. Adin likes to say that she woke up "on the wrong side of the crib."

She is still attached to three cords - one for her oxygen, another in her nose (NG tube) for feeding, and a third attached to her foot (her pulse oximeter which monitors her O2 levels) Most likely, she is mad about all the darn cords attached to her. Although she may also be pi*&?ed that she can't wear her cute outfits. Her current attire is old sleepers with one foot cut off. You see, she currently can't wear clothes that go over her head due to her oxygen tube, and she needs one foot free for her O2 sensor. Thus, our one-footed sleeper invention. Adin says we should market it and make millions ;)

Our days have become exponentially busier as Sadie is always cycling between feeding time, oxygen monitoring, breathing treatments, and medication administration. Nursing was never a career I considered, and I'll admit, it's a little stressful. Good thing I love my patient. We are hopeful that we can wean her off of the oxygen soon, and the NG tube will go away once she shows no aspiration in her swallow study.

Our hospital experiences with various medical professionals have made us extremely grateful for the team we have in place to oversee Sadie's care.

Dr. Lori Walsh, Pediatrician - I knew Dr. Walsh was a keeper from the moment I met her in our prenatal visit. She was truly interested in Adin's PKU (Phenylketonuria). She even called at 8 pm one evening to discuss what she learned about the genetics of PKU. Dr. Walsh has been the key player in coordinating all of Sadie's care. She truly understands Sadie and her condition and has been the ultimate partner throughout Sadie's journey.

Dr. Srishti Nangia, Epileptologist (a long word for "seizure doctor") - Both times Sadie was inpatient at Children's Memorial, Dr. Nangia visited us every single day - including weekends. We've been on the roller coaster with Dr. Nangia since the very beginning. She helps us through ups and downs, listens carefully, and knows Sadie quite well. She is a wonderfully compassionate, thoughtful, and caring doctor.

Dr. Hawke Yoon, Opthomologist - We met Dr. Yoon when Sadie was just three weeks old. Our journey to her diagnosis started with Sadie's eye exam under anesthesia. He quickly won our hearts when we asked about the procedure. Not finding a piece of paper handy, he pulled out his pen and started drawing a diagram right there on the bedsheet. The first few months of Sadie's life, we saw Dr. Yoon almost weekly. And he just has a cool name.)

Dr. Tadanori Tomita, Neurosurgeon - Dr. Tomita monitors Sadie's choroid plexus papilloma. Sadie receives an MRI every few months to check the growth of the tumor. If it gets too large, it can cause a condition called hydrocephalus, which would require a shunt and brain surgery. We know that we are in good hands with Dr. Tomita.

Roland Scott, Ocularist - Roland Scott fabricates Sadie's eye prosthetic (conformer). He fits Sadie's eye very carefully, and given how sensitive her eye is, we see him quite frequently. She gets larger conformers every few months as she grows, and he is always very careful and patient as he molds and fits each of them. Ocularists are hard to find - there are only about six of them in the Chicago area. Roland is actually the second that we've seen as we weren't entirely happy with the first. We joke that his lab resembles Dr. Frankenstein's - pots boiling over, him in a white lab coat, but overall, we've been very happy with his work.

Robyn Blackford, Ketogenic Dietician - Robyn oversees Sadie's ketogenic diet. Even though she was booked with patients, she helped us get Sadie into the hospital to start the diet on an emergent basis when her seizures were almost non-stop. She is a wonderfully knowledgeable and kind individual.

Michelle Johnson, Home Nurse - It was Michelle who ordered Sadie emergency oxygen for us to have in the home. A week later, Sadie ended up needing that oxygen to get her through until the ambulance arrived. Had we not had the oxygen, Sadie would likely be in much worse condition. Michelle was introduced to us through a great organization called Hope's Friends.

Team Sadie will be growing this week, as she has appointments with a few new specialists - a pulminologist (a doctor specializing in respiratory issues), and a urologist. We hope the pulminologist will be able to offer some insight into why these darn respiratory viruses have hit Sadie so hard. And, although she is now pee-ing more frequently (pause for knocking on wood), we initially made the urologist appointment after she was holding her urine for up to 12 hours between diapers.

I'll brag about her therapists (who are also wonderful) in a later post. Although we would change it in a heartbeat, we are grateful that we have gotten to know such wonderful medical professionals and feel confident in their care for our darling daughter.

Sadie's first ambulance ride. Prayers, prayers, prayers.

Looking at the title of the last blog post, I hope I didn't jinx poor Sadie. After battling cold symptoms for a few days, Sadie awoke early Tuesday morning with labored breathing and a "barky" cough. We hooked her up to the pulse ox to check her O2 levels. The machine read 83%...we started panicking. Luckily we had the emergency oxygen her home nurse had sent over the week prior. We started her on O2 and she quickly rose to 100%. Adin and I knew that we had to call an ambulance to transport her to the hospital, as we couldn't take her without supplemental oxygen.

The ambulance arrived at 2 am, and delivered Sadie and I to the ER at Lutheran General Hospital. Ambulance protocol is to take the patient to the nearest ER. I was a little nervous being at a different hospital than Childrens, which we know so well. Although I prefer Sadie's doctors at Childrens, we've been quite pleased with the staff and facility at Lutheran General.

We are on day 4 in the pediatric ward. What started as cold symptoms turned out to be metapneumovirus, which is similar to RSV (the virus that hospitalized Sadie in January). Sadie is also showing some cloudiness in her lungs, which could be a mild case of pneumonia. The doctors are trying to figure out why these respiratory viruses are so hard on Sadie. They suspect aspiration, which is where some of the liquid one consumes goes into the lungs instead of the stomach. She will be having a swallow study to explore this further. In the meantime, all liquids are going through an ng tube (through nose, down throat, in tummy). She REALLY did not like that ng tube going in, and actually punched the nurse with her little bandaged IV hand.

Throughout her hospital stay, her seizure activity has been quite low. And, we finally were blessed with her first seizure free day*. I always feel like I need an asterisk after that statement, as it is possible she had a twitch here or there that I didn't see, or a mild episode in her sleep. The picture above is the page from Sadie's journal showing her first day with no seizure activity. We have been keeping these journals since she was 4 weeks old (we're now on journal #3.) Each page is a different day. We track the time and duration of the seizure. I used to count every single spasm per cluster, but once they got up into the hundreds it was just too depressing.

We also track her fluid intake and diapers in the journal (since she has decided to hold her pee for hours and hours, and poo for days. More about that in a future blog post.) We have also been advised to see a pulminologist to oversee Sadie's respiratory issues. Her team of doctors grows.

The analyst in me wants to overanalyze exactly why her seizure activity has been so low. (I see a spreadsheet in our future:) But for the time being, I'll be grateful for this blessing. Maybe all of your prayers are working. Keep them up!