One Year Ago Today.

We walked in for our appointment with the neurologist to get the results of Sadie's MRI. That morning, I had a sinking feeling in the pit of my stomach...I just knew that it was not going to be good news.

The neurologist who diagnosed Sadie was an extremely kindhearted woman who began by having us explain to her what had been going on with Sadie. She then showed us photos of Sadie's MRI and pointed out the various cysts and abnormalities in her brain. It was during this appointment that she told us Sadie had Aicardi Syndrome. As Adin wrote notes in our notebook, he asked her how it was spelled.

She gave us literature about Aicardi Syndrome and began to explain what it would mean for Sadie. As Adin and I read the markers of the Syndrome: missing corpus callosum, seizures, infantile spasms, retinal scars and micropthalmia, we thought, "Yes, that's Sadie."

I remember the neurologist saying that Sadie would only develop mentally to 6 months to one year of age and would only have a 40% chance of making it into her early teens. I had to ask her to repeat herself...as my brain wasn't able to process this so quickly. She stepped out of the room to allow us time to digest this information. When she came back, we talked about seizure medications and follow up appointments with neurosurgeons and epileptologists.

Driving home was a blur. Adin and I didn't say one word to eachother. All that we had imagined for our daughter - playing softball, soccer, singing in the school choir, going to her first prom - had been taken from us in that short one-hour meeting.

Once arriving home, we began the hard task of making phone calls to our immediate family. How do you begin to deliver such bad news? I would always preface the conversation with "You're not going to know what to say when I tell you this....and that's OK."

The next few days were filled with profound sadness. I awoke the next morning hoping the day before had been a dream. Unfortunately it was not. Our families were (and continue to be) our saviors. It was comforting to be surrounded by people who shared in the sorrow.

Little did we know what the upcoming year would have in store for us - therapy sessions, numerous doctor's appointments, seizure medicines, hospital visits, oxygen tanks. But the past year has also given us a beautiful little girl who laughs when mommy coughs, smiles up at us from her crib, gets cranky when she's tired, puckers her lips when her Aunt goes in for a kiss, and looks with surprise when Baxter cries over a squirrel in the backyard.

Sadie has helped us become more tolerant, patient, kind and forgiving. The past twelve months have given us a broader perspective on life and reminded us to cherish every moment, because you never know when it could be taken away.

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.

One Year Down. Sadie by the Numbers.

One Year Old
365 Days
3 hospital stays
100+ doctor appointments
251 therapy sessions
15 different medications
2 intubations
5 days on a ventilator
5 prosthetic shells

Countless smiles, coos, smooches, and loving glances

Happy 1st Birthday darling Sadie.

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!

Social Sadie. Warning, sickness ahead.

The past few weeks, Sadie has been quite verbal and is often taken to having long conversations in her crib in the middle of the night. She's not cranky or upset, she just wants to chat. She'll do this for hours on end, but simply prefers to do it between the hours of 12 and 4 am. We hope this bodes well for her future verbal ability.

She has also been quite active, and has gotten close to rolling over. She keeps herself entertained talking and moving, moving and talking for hours at night in her crib. Adin and I will alternate getting up to check on her. The conversation usually goes something like this.

Cathy: Honey, can you get up and check on her?
Adin: Arrgh...
Cathy: I think she just said "daddy." She obviously wants you.
Adin: Arrgh... (rolls onto his side and climbs out of bed)

Seeing as how she likes to communicate with us, we've started to teach her sign language. We're currently teaching her two signs - "milk" and "more." We've done better with the "milk" sign, and swear that she is trying to do it on her own!

She also does a funny thing when she's dosing. Her eyes are little slits and we ask her if she's "fake sleeping." She typically responds with a big smile although her eyes are still mostly closed.

Speaking of sleep, we broke down and tried the melatonin one night. She slept for a record four hours (four hours, people!). Unfortunately, the next day was a crazy high seizure day for her. Its hard to discern whether it was the melatonin or another factor. So for the time being, we're holding off on the melatonin until we're at a more stable place with her medications.

Speaking of medications, Sadie is still on her four seizure meds (Topomax, Vigabatrin, Clonazapam, and Dilantin). The latter two are the ones that seem to be showing some positive improvement. We're still weaning Topomax, albeit very slowly. Vigabatrin will be weaned next. It will likely take us until June or July to get her off both, as long as we see no adverse effects.

Speaking of adverse effects, we've heard from many people that seizure activity often spikes right before a child gets sick. We think that is what happened with Sadie earlier this week. We spoke with the on-call neurologist after she had a really rough night and morning - seizures happening every 5 minutes. The neuro advised us to give her Diastat (emergency medication). This is a huge thing for us, as it was the first time we've administered Diastat at home. It was a little nerve-wracking, but it stopped the seizures. She, of course, was way out of it for the rest of the day. Not suprising, as Diastat is a form of Valium.

Because Diastat can suppress breathing, we hooked her up to her new pulse oximeter to monitor her O2 level. Pre-diastat, her O2 was about 95%, post-diastat she hovered around 85%. I was again on the phone with doctors, and was trying to avoid the dreaded "take her to the ER" response. (Sidebar - love love love the folks in the ER at Children's, but we feel like the past few times we've been there, Sadie's been hit by a wrecking ball as they try to get her O2 levels back up.)

So, we took her to the pediatrician. Luckily by that point, her O2 had gone back up into the 90s....whew - crisis averted. In the meantime, our lovely home nurse (who sees Sadie once every two weeks) had an oxygen compressor and tanks delivered to our home. So - we've added to our beautiful collection of medical equipment. Lo and behold, two days later, Sadie comes down with a horrible cold. The seizure increase served as our warning sign.

We forge ahead as Sadie approaches her first birthday at the end of this month. So hard to believe that our little girl will be one soon. Even through all the hospital visits, doctor appointments, therapy sessions, etc., she has been our joy and the light of our lives.

Gratitude.

Last week, friends of ours hosted a benefit fundraiser for Sadie. You can view photos of the event here. We cannot properly express in words our gratitude to those individuals who put this event together - Chip & Lisa, Jeff & Erika, and Josh & Heidi - we are forever indebted to you for offering up so much of your time and energy.

Proceeds from the fundraiser will go to Sadie's Special Needs Trust. The funds will be used to pay for anything that is not covered by insurance - prescription co-pays, specialized equipment, extra therapy sessions. While we are thankful that insurance is picking up a huge tab for Sadie's care, we are learning very quickly that there are a number of things that simply aren't covered.

A portion of the proceeds will also be donated to the Aicardi Syndrome Foundation. The Foundation connects families affected by this disease through a biennial Family Conference. They also assist with funding two major research teams who are doing research on Aicardi Syndrome.

Many, many other people also donated time, items for the auction, money - we will do our best to thank each and every one of you personally. We have been completely overwhelmed by the support we have received, and the people who have supported us...many of whom we have not seen in years (yes, you). It's beyond heartwarming to know that Sadie is loved and so many people want to help out. Please know that your donations will go to help our little girl live the most fulfilling life that she can.

Sadie's godmother always says, "that little girl is going to change the world." We think she already has.

If there's anything we can do (continued)...

As we learn more about Sadie's condition, we also learn more about our needs as parents as we navigate this new reality. So, as a continuation of our "If there's anything..." post, we decided to add a few more things to the list.

6) Advocate. We were disappointed to learn that Illinois ranks dead last in many services to individuals with disabilities. Read more about that here. (For example, Sadie is currently on a wait list of 20,000 people to get any sort of assistance for her disability.) Send a letter or e-mail to your Illinois representative about providing more programs and services for individuals with disabilities.
7) Give to Sadie's Special Needs Trust. We've set up a special trust for Sadie to pay for items that are not covered by insurance. (i.e. therapies, medications, special equipment, etc.) The trust ensures that any funds set aside to care for Sadie will not be counted against her once she turns 18, and will enable her to access public funds such as Medicaid and Social Security Income. It also will provide for Sadie's care if, heaven forbid, anything were to happen to Adin or myself. If you'd like to make a donation to Sadie's Special Needs Trust, please let us know. You can also donate with a credit card through PayPal (simply click the link on the right).
8) Attend a benefit fundraiser for Sadie and the Aicardi Syndrome Foundation. We are blessed to have great friends who are planning a fundraiser next week in South Bend, IN. It will be a fun party with great music :) Click here for more info. We hope to see many of you there.