Santa Claus...

I got Sophie all dressed up in her Christmas outfit yesterday and took her to the mall to see Santa Claus. The second I sat her in Santa's lap, she started bawling. I was very shocked. She is so use to being around strangers (between all of the therapy and doctor appointments) that it did not ever dawn on me that she might be scared of Santa. Hopefully, when we go back with Haley, she won't be so scared.

Test Results...

Sophie's neuro called tonight with the results of the blood test. Everything looked fine. Her Depakote level is 99. He said that when it gets over 100 is when you start seeing some bad side effects. He also said that most kids can tolerate up to 120. Her platelet count was 312,000 (the normal range is between 140,000 - 350,000).

Now here is where I am lost... Of course I think of these things late at night and not when I am on the phone talking with the neuro. Is it good that Sophie's Depakote level is so high with being on a not so high of a dose? Does this mean that since her levels are so high and she is not seizure-free that she will not become seizure-free on Depakote?

We also discussed genetic testing. She will be having another test called microarray analysis done once I have cleared it with our insurance. I was naive in the beginning and believed that whatever test our doctor (who is in-network) ordered would be covered under insurance. When Sophie was tested for ARX gene mutation, the test was performed in a lab that was not covered under our insurance and we were billed around $950 (this amount has been reduced to around $650 and we are still debating it). Our appointment with the pediatric neurologist that specializes in genetics is not until June 2007 (he only sees patients twice a month). In the end, I really do not think it will matter because I believe that whatever caused Sophie's brain abnormalities is very rare and will not be discovered anytime soon.

Oh, and we are also increasing her Depakote to 625mg a day (250mg in the morning and 325mg in the evening).

More babbling and more crawling...

Sophie is babbling more. Along with dadada, she is now saying mamama and bababa on a more consistent basis. Her crawling is getting better but not quite completely there. I am waiting for the day when she sees me across the room and just takes off to get to me. Usually, when she sees me, she just starts bawling and then crawls towards me (which is better than before when she would start bawling and just sit there). The only time I ever see her move fast is when it is diaper changing time. The second I get that diaper off of her, she flips over and sits up with such strength that I have a hard time stopping her.

The Battle of Zonegran...

I am so tired of trying to get Sophie to take Zonegran. She doesn't even like applesauce now because that is what I usually put it in. It is such a battle to get her to take it. So tonight during dinner, I sprinkle a little bit of Zonegran on a spoonful of food and try to get her to take it. She gags and I am frustrated. I am tired of the battle. So I put the cap back on the Zonegran. What am I to do??? Hmmm, maybe she can swallow it whole. I stick the pill in her mouth and hold out her sippy cup. She doesn't want to take a drink!!! She just starts gumming the pill. Oh no, the pill is going to open up in her mouth and she is really going to gag. This is going to be a disaster. Instead she swallows it and then takes a drink. I was so shocked!!! So I tried the second pill and she does the same thing. End of the battle (hopefully)!!! Yeah - we all win!!!

Double Ear Infection...

We took Sophie to the pediatrician yesterday. She has a double ear infection and is now on antibiotics. Just one more medication to add to the list. Though, we did successfully wean the Topamax last Thursday (successfully means we were able to wean it without an increase in seizures). So now she is on 150mg of Zonegran and 500mg of Depakote. She gets bloodwork done on Monday to find out her Zonegran and Depakote levels. Hopefully, we will be able to start weaning the Zonegran soon. Depending on how her Depakote levels look, we may increase it. I am not sure what the maximum dose of Depakote she can be on. The Depakote seems to be somewhat controlling her seizures. It seemed like the number of seizures were steadily increasing but now they have stabilized and even slightly decreased (on average, she has about 60 - 70 seizures a day). Ear infections (or any kind of illness) can cause seizures to increase so I anxious to see how she will do once she feels better. It is possible that the Depakote is working better than we think. Is it too much to hope for a seizure free Christmas?!?! She did sleep through the night for the first time last Christmas Eve so maybe...

Ophthalmologist...

Sophie had her eye appointment today. Everything checked out fine. Vision looks great and eyes look healthy. Yeah!!! Though, Sophie wasn't too thrilled with the appointment. She gets very mad if you touch her face. Actually, her reflexes kick in when she sees your hand coming towards her face. She is very quick. She would swipe the lenses right out of the doctor's hand in a blink of an eye. Hmmm...she would make a very good thief. Actually, now that I think about it, she does this a lot. She is very sly about it. She will lean forward and put her hands down like she is just catching herself and the next thing you know she has some small chokable object in her hand. First of all, I don't even know how she eyed the object. Second of all, I could have sworn I grabbed her before she had a chance to grab the object.

Appointment...

We had an appointment with Sophie's pediatric neurologist yesterday. We received a lot of answers and learned a lot about Sophie's condition. We also received a few articles to read to learn more about brain development. Sophie's brain abnormalities (abnormal cerebral glucose metabolism) is most likely what is causing the seizures. But the real question is...What is causing the brain abnormalities? The doctor went into a theory on what possibly caused the brain abnormalities that was very interesting (I am not going to even attempt to rehash what he said but it was along the lines of genetics and malformation of cortical development). He referred us to a pediatric neurologist that specializes in genetics. He also referred us to a pediatric ophthalmologist...something to do about the retinas in the eyes. As you can tell, a lot of the information we learned is way over my head and I have a lot of research to do to better understand it all.

Crawling...

I can officially say that Sophie is now crawling!!! For the last few weeks, she would go forward a few spaces but now she will occasionally go forward about 5 feet without stopping. She is not very fast or very good at it BUT she is working on it. It is so wonderful to see her still progressing although at her own pace. Though, it hasn't been an easy journey to get to this point. As part of our new physical therapy approach, I am to use tough love (or a more pleasant way to say it - power of love). At times, she would sit there and have this really sad look in her eyes with tears rolling down her face. She would stare straight into my eyes with this look of desertion. Oh, how this tore at my heart. But eventually, she would stop and crawl towards me. At first, only a few spaces. Then, a few feet. Now, she will crawl (with a few rest stops) about 15 feet to get to me. Here is a video of Sophie crawling. Yeah Sophie!!!

Devastating news...

We received the official radiology report. To sum it up...Sophie is not a surgical candidate because both hemispheres are abnormal.

Here's the e-mail I received from Dr. Chugani -

...I have all the reports now, basically we are seeing abnormalities from both sides of the brain, but worse on the left. Nevertheless, because of bilateral epileptic discharges, surgery is not recommended...

Here's part of the radiology report -

...FINDINGS: The EEG performed during the PET scan showed frequent spike wave activity on both the left and right sides. There was no consistent lateralization of interietal discharges. The PET scan showed decreased glucose metabolism involving mostly the left parietal, occipital, and possibly temporal cortex. On planes 24 and 25, it appears that the left frontal cortex may also be hypometabolic. On planes 26, 27, and 28, the left medial temporal lobe structures also show hypometabolism. In the right hemisphere, parietal cortex hypometabolism is seen on planes 13 and 14. The basal ganglia appears symmetric. There is thalamic asymmetry with lower metabolism on the left compared to the right. The brainstem and cerebellum appeared normal...

So there it is. I did not realize that I would be this sad to hear that Sophie would not have the option of brain surgery. It just hit me - this is something we will be battling for a long time. I thought, we will try different medications to try to get the seizures under control and if we exhaust all other options then we could turn to surgery. No longer an option. Please do not bring this up if you talk with me because I am just trying to hold on. I am trying not to think about it too much.

Update on Monday's EEG...

Hypsarrhythmia did not return. EEG findings are consistent with that of the EEG performed in Detroit. See post dated November 12, 2006.

Medication Update...

Sophie is completely weaned off of Vigabatrin. I am so glad she is off that drug. It did absolutely nothing for her seizures (possibly even made them worse). She has been on Zonegran for 3 weeks now and still no improvement with her seizures. So tonight she started Depakote. We are also going to try weaning Topamax again (last time we tried weaning Topamax, her seizures became worse). Currently she is on 150mg of Zonegran, 125mg of Topamax (we are going to wean 25mg every 3 days) and 125mg of Depakote. Like always, I am hoping Depakote is the one. I am trying not to lose hope that we will find a drug that will make her seizure free but this is her fifth drug. It is possible for her to become seizure free, but as each new drug is tried and failed, her chances decrease.

Sophie is currently having about 100 seizures a day. Her seizures are becoming more severe - almost as severe as when she was first diagnosed. She will be having an EEG on Monday to make sure the hypsarrhythmia has not returned.

Clinic Letter...

We received the Clinic Letter from Dr. Chugani that better explains in medical terms the results of the FDG PET scan...

"...the results of PET, which shows hypometabolism on the left side, mostly on the left posterior region, suggestive of cortical dysplasia. The PET scan can be repeated later on if necessary including the FMZ PET scan. Because the PET scan shows some focality, should the infantile spasms become intractable and do not respond to any medication surgical resection would be an option in the future."

and the EEG...

"...shows the background is normal for the age. Frequent spike and wave activity is seen in the right temporal region, bitemporal region and also independently generalized irregular spike and wave activity. Two types of seizures were captured during the recording. One is myoclonic jerks, which is characterized by a single body jerk and the EEG shows giant generalized spike and wave activity. The second is head drops in isolation and also in clusters, which is characterized by sudden head drop. The EEG showed diffuse single delta wave activity. Head drops when they came in clusters had three such episodes that lasted up to three minutes and consisted of approximately 20 episodes."

Sophie's best friends...

Well, actually, Laney and Brock are Sophie's best friends by default. Jen (Laney's mom), Dana (Brock's mom) and I all lived together after we graduated from college. We use to dream about the day we would be married and have kids and how much fun it was going be. WRONG! Well, we all DID get married and we all DO have kids and it IS fun - just not the kind of fun we imagined. What happened to all the free time we were suppose to have so we could get together often to go shopping, have lunch, lounge around - all while having perfectly behaved kids that can easily entertain themselves??? Oh, how naive we were!!! I love when couples that don't have kids talk about how busy their lives are... ha - I did not realize what busy was until now. To all you couples without kids who are someday planning to have kids - ENJOY THE FREEDOM, ENJOY SLEEPING IN, ENJOY BEING ABLE TO GO TO THE STORE WHENEVER YOU FEEL LIKE IT, JUST ENJOY... On the other hand, nothing will ever touch your heart as the laugh of your child.

Sophie & Brock with Scott (Brock's dad)

Laney & Sophie

Laney crawling over Brock

Jennifer, Me & Dana (Pre-baby days)

Happy Halloween (a little belated but what's new?!?!)...

Sophie had her first piece of candy on Halloween and what a mess it was!!! First, she had a few licks on a lollipop at Grandma Lee's house - not too bad of a mess. Then she had a few licks on another lollipop right before we left to go trick-or-treating - not too bad of a mess. But while we were out trick-or-treating at a neighbor's house, she got another lollipop. Brandon and I were caught up in conversation and within 5 minutes, she went from being a cute little lamb to a big sticky wet mess.

Sophie is babbling...

Sophie started babbling on Thursday. She was sitting in her highchair and she just started saying DaDaDaDa. Luckily, I had the camcorder right next to me to capture this moment. Here is a video of Sophie saying DaDaDaDa. She is now saying DaDaDaDa all day long.

First Haircut...

Sophie had her first haircut on her 1st birthday (October 11th - a little late in posting this). We went to this place called the Hairy Elephant. She got to sit in this cool little car and watch a Baby Einstein video. She had so much fun and sat amazingly still for the whole thing.



Afterwards, we went over to the Wolinski's house to play with her cousins. Sophie opened a birthday present and then attacked her cousin, Colin, for some YoGo's.


.......The staredown.......

...........The attack..........

She is back on the charts...

Sophie had her 1 year checkup with the pediatrician last week. She weighs exactly 25 pounds and is 31.5 inches long which puts her at 95th percentile on weight and 90th percentile on height. At her 9 month checkup, she was off the charts on weight. Below are some before and after pictures of when she was on ACTH. She has definitely grown into all that weight she gained during ACTH. Everything else during her checkup looked fine. We are holding off on immunizations until she is feeling better. She has a stuffy nose right now which is causing her seizures to be worse.

Day 5 on ACTH (May 15, 2006 - 7 months old)

Day 42 on ACTH (June 21, 2006 - 8 months old)

Those cheeks are getting chubby.

Day 57 on ACTH (July 6, 2006 - almost 9 months old)

Check out those legs!

Day 71 on ACTH (July 20, 2006 - 9 months old)

It was hard trying to wash under all those chins.

67 days post ACTH (Sept 26, 2006 - 11.5 months old)

94 days post ACTH (today - 1 yr old)

Down to only 1 chin ;)

Birthday Pictures...

To my precious Sophie... You had a wonderful time at your birthday party. You were amused by Silly Jilly the Clown, though you were not very fond of your birthday balloon hat. You loved all the family and friends that came to celebrate with you (and wow there were a lot of them - you are loved by so many people) and gave everyone big smiles. By the time we brought out your birthday cake, you were a little tired to get too excited about it. But that still did not stop you from devouring it. I think all that sugar gave you a burst of energy because you were back to all smiles trying to open all your birthday presents. After that, you were so exhausted that you fell asleep as soon as Aunt Erin put you in your crib. We are so happy that you enjoyed your 1st birthday party.

(Note: If you click on the pictures, they pop up bigger.)









Thank you all for celebrating this special day with Sophie and making her 1st birthday so memorable.

What do I do?

I hate this!!! There is so much unknown about Sophie's disease. I am not a doctor, yet I have to make so many medical decisions about Sophie. Every doctor has a different opinion and I have to make the final choice. Who do I listen to? What drugs should Sophie be on? What test should be performed on Sophie? I DON'T KNOW!!! I can research, research and research, but in the end, all the information out there is all so contradicting. I am so overwhelmed right now. All I ever want to do is cry but that gets me nowhere.

So what is the dilemma? One neuro told me to completely stop the Vigabatrin the day we are to start Zonegran and to slowly wean the Topamax. The other neuro told me to slowly wean the Vigabatrin when we start the Zonegran and NOT to wean the Topamax. Topamax and Zonegran are very similar drugs - is it really okay for Sophie to be on both? There is such a delicate balance with Sophie right now. Any little change can make her seizures worse. We already tried weaning Topamax and her seizures became worse, so we stopped the wean and brought it back up. The last few days, her seizures seem to be worse - is it the increase in Vigabatrin or is it her cold?

It will be another 6 months before we get another PET scan to determine if Sophie is truly a surgical candidate or not. It the meantime, I will be researching, researching and more researching. Where do I go for another opinion? I want the best for Sophie, but where do I go? There is no magic website out there that tells you who is the best pediatric neurosurgeon in the country. I have heard wonderful things about the surgical team in Detroit, but do I not get a second opinion? It is all so scary.

Really, I am just an emotional wreck right now. I started crying when I thought about leaving Sophie to go on a weekend ski trip in January. This is so not how I pictured things. When I was pregnant with Sophie, I was like - I will have no problems leaving her with family to get away once in awhile... it will be good for both of us. I also did not know if I would feel comfortable breastfeeding her and told myself I had to do it until she was 6 months old. Well, now she is a year old and I can't seem to stop. I was suppose to start weaning when we got back from Detroit. I think that I was just so consumed with the Detroit trip and Sophie's 1st birthday party, that I did not allow myself to stop and think about everything that was going on. Now that I have had a chance to stop and think, it all seems too overwhelming. Oh, to help with my emotional instability is the fact that Sophie decided to stop sleeping through the night about 3 weeks ago. The hours between midnight and 5am are a complete blur to me.

Oh, I almost forgot to mention that we have a pediatrician appointment this afternoon for Sophie's 1 year checkup and also to discuss whether or not we resume vaccinations. Though, I do not believe that vaccinations can cause a seizure disorder, I do believe it can make it worse. On the Center for Disease Control and Prevention website, it lists under the DTaP vaccination the following under true contraindications: "Progressive neurologic disorder, including infantile spasms, uncontrolled epilepsy, progressive encephalopathy; defer DTaP until neurologic status clarified and stabilized". Both neuros that we spoke with said it was okay to resume vaccinations but do we resume vaccinations when Sophie's neurologic status is not stabilized? What is worse - the possibility of catching a disease she is not immunized for or an increase in seizures?

Happy 1st Birthday...

We celebrated Sophie's 1st birthday today (her actual birthday was the 11th). She had a blast despite not feeling well. She has had a stuffy nose since Friday evening and has not been sleeping well. Hmm... probably because it is hard for her to suck that thumb and breathe through her nose at the same time. Thanks to the help of family (especially Grandma Debbie and Aunt Erin), I could not have asked for a better party. We have some wonderful toys to keep us entertained for quite some time. I am not sure who is more excited - Sophie or me? I promise to post pictures of the party soon.

Over the past couple of weeks, Brandon and I put together a video montage of Sophie's First Year (for those of you technologically challenged - click on "Sophie's First Year" to view the montage). It was hard to sort through all the pictures and pick the ones to go into the slideshow. Maybe because Sophie is so photogenic or maybe because I have taken a million pictures. Either way, it was sad and heart-warming to sort through all those pictures. It is hard for me to even remember her being so little. I wish I could hold that little baby in my arms one more time and really treasure her the way I treasure her now. Everything at the time seemed so overwhelming. Now, I look back and realize how easy it really all was... but don't we say that about everything in life?!?!

What we found out...
We met with the doctor on Friday afternoon to find out the results of all this testing. Of course, by the time we met with the doctor, Sophie is sleeping so incredibly soundly that there was no waking her up. We even had to lay her on a table while I held her eyes open and the doctor shined a light in them and she did not even move. After the doctor examined her, he started talking about these statistics on how 85% of the babies he sees with Infantile Spasms (he generally sees only cryptogenic cases in patients outside Detroit - in other words, he usually does not see babies that fall under the symptomatic cases in which they have some kind of brain damage or known metabolic disorder) fall into a category in which he can help through medication or surgery and the other 15% fall into a category that he cannot help. Then he said out of the 85% he can help, 20% of them are surgical candidates. I felt like he was going on and on and on... while I sat there wondering where he was going with this. Which category did Sophie fall into? What is all this talk about brain surgery? In what felt like eternity (which in reality was only a few minutes), he said that Sophie "might" fall into the 20% category of surgical candidates. Is this suppose to be good news? Brain surgery - how can this be good news? Yes, he "may" be able to help Sophie, but how is having brain surgery good news???

Why Sophie might be a surgical candidate... If the brain ONLY has abnormal brain matter on ONE side of the brain, then she would be a surgical candidate. In other words, the seizures are only originating from one side of the brain. The FDG PET scan shows that Sophie has some abnormal brain matter (cortical dysplasia) on the left side of the brain. She only "may" be a candidate for surgery because the doctor was uncertain if the right side of the brain had abnormal brain matter. Sophie is still very young and her brain is still developing. Therefore, what may appear normal on the scan now, may appear abnormal in the future once she is a little older. Currently, the EEG shows that her seizures are multi-focal but that does not necessarily mean they are originating from both sides of her brain. Our local neurologist told us that a PET scan was not necessary because he did not believe that Sophie was a surgical candidate since her seizures were multi-focal on the EEG. Brandon and I have learned so much from this new neurologist.

More about her EEG... As I already said, she is having multi-focal seizures. She is still having spasms along with myoclonic seizures (this is something new we learned). Her background rhythm is normal but she has abnormal brain wave activity 24 hours a day.

What next... We keep trying new medications to "buy some time" until Sophie is a bit older to run some more tests. The doctor recommended that we stay on 1,000mg/day of Vigabatrin for one week and then increase it to 1,250mg/day (500mg in the AM and 750mg in the PM) for two weeks. If Vigabatrin does not stop the seizures (it appears that it currently is doing absolutely nothing for her seizures but is completely disrupting her sleep cycle), then we start Zonegran. All the while, we are suppose to wean Topamax at 25mg/week. Yesterday, we dropped the Topamax down to 100mg/day (25mg in the AM, 25mg at noon, 50mg in the PM) and her seizures were worse. So today, we increased her Topamax back up to 150mg/day (that is the dose we were at when we first started Vigabatrin 10 days ago). Oh, the decisions Brandon and I make on a whim and the drugs that we push into Sophie's body that does who knows what to her (increases the amount of GABA in the brain, or damages the retinal nerve fiber responsible for her periphial vision, or ???).

Once we buy some time (3 - 6 months)... We go back to Detroit to get a Flumazenil (FMZ) PET scan and a 3 day video-monitored EEG (yes - 3 days). The doctor will then determine if Sophie is truly a surgical candidate.

If Sophie is a surgical candidate... Sophie will most likely have brain surgery by the time she is 2 years old. They will put electrodes on the surface of her brain in and around the areas that they will operate. They will then send electrical currents to stimulate the brain to map out the motor cortex which will take about 3 days. Then, they will operate and remove the areas of the brain that are abnormal making sure to stay clear of the motor cortex. Having this surgery does not guarantee that Sophie will become seizure free for the rest of her life but it does increase her chances. Currently, the left side of the brain that appears abnormal is what controls speech. Once this area is removed, the right side of the brain will take over and learn how to control speech. It is so amazing what the brain can do. How can you remove part of your brain and still be okay?

So what now... We pray that the abnormal area does not get any larger (as the smaller the abnormal area, the less amount of brain they will remove). We research, discuss, get more opinions, run more tests and then decide if brain surgery is an option for Sophie and whether or not we want her to have brain surgery. With all this said, even if Sophie is a surgical candidate, we have to weigh the risk of surgery with the long-term benefits. I just cannot imagine my baby girl having brain surgery.

Pictures, as promised...

Sophie's first airplane trip. She sat in the seat like the big girl that she is. Well...at least long enough to take the pictures. After that, she was a squirmer.


At Children's Hospital of Michigan, they like to wrap the baby and tape her down in order to attach all the electrodes to her head for the EEG. In the five previous EEGs that she has had, I was always able to just hold her during this process. The only way they would let me take her right thumb out of the wrap was to promise that I would hold her arm and not let her grab the electrodes.



After being stuck with a needle four times and taped down, Sophie was so exhausted that she slept through the PET scan and did not need to be sedated. So, in the end, it all worked out for the best. She was happy, playful and HUNGRY (as we could not feed her after 4am that morning as she was supposed to be sedated) when she woke up from the PET scan instead of being drowsy.


And when she woke up from the PET scan... In the first picture, you can see the bandages from all the places she was stuck with a needle. In the other picture, Sophie is playing with the teddy bear that was sent by Grandma Debbie (oh so soft).


Back at the hospital for her 20hour video-monitored EEG. This time they had to use glue and an air gun to apply the electrodes. She was not happy about that loud air gun. Then, they wrapped her head and taped it down. She loved her hospital crib. She had so much fun pulling herself up on the bars and just cruising around her whole crib. It was exhausting just watching her. She was so off the wall crazy that the nurses were baffled on how they were going to get her vitals. She also loved the hospital food - she ate so well.