Saturday, January 30, 2010

seizures, what else?

Emily seems to be getting better (developmentally), but since we have weaned her off her ACTH it seems her seizures have picked up again. On the good side they are very short, most under 5 minutes. She has up to 10 or so a day, that I see.
I actually got a video of one of her seizures. She has a couple that she does now. I know she is talented. :)
One of her seizures is the classic spasm, some call it jack knife or jerking ( her arms and legs jerk up at the same time she does a crunch with her belly muscles) this one has gotten very weak though its mostly just her legs kick slightly now.
Another one is in this video she will just stop doing whatever she was doing and get really quiet and smack her lips a little or twitch her mouth a little. In the video her seizure starts around :25.

On a good note, she has begun to babble again and smile and laugh a lot more! I missed her babbling and her little voice so much. While she was on ACTH she did not do anything except cry and then that was even a different cry. It is so crazy how much that medicine changes them.

Emily is also trying to move a lot more. Joe was holding her and we usually have to hold her pacifier in her mouth until she gets a good hold on it but this time she put her little fist up there and was holding it in. She has been stretching her arms and kicking her legs more too!

I can't wait for next week when therapy starts, I am sure she will being doing a lot more soon!!

Tuesday, January 26, 2010

Lots of smiles!

Yesterday we upped Emily's topamax dose and it seems to be helping. When she woke up for lunch she was so happy!! I have never seen her like that before. Even before all the meds and the diagnosis of IS she was NEVER this happy.

Everything I said to her she would just laugh and smile. Let me tell you it was the best feeling ever!!

I am just praying that this medicine is helping her.

She also has been trying to move her body a little. Ever since the ACTH she quit moving. She only rolled over one time before the diagnosis but she would kick and throw her arms around and held up her head. She was delayed but now since all the meds she literally stopped everything. She can't even hold her own head up. So to see her trying to hold her head up and feel her little muscles trying to move more is so amazing!!

I tried all day to get a good pic or video but every time i would put the camera in her face she would either stop or close her eyes.

Her other new thing is sticking her bottom lip out when she is mad. It is the cutest thing!!

Monday, January 25, 2010

Catching up and a little rambling

Emily had her last ACTH shot on Friday. We were so glad to not be giving her shots anymore.
If you look closely you can see all the little marks from over 50 shots :(

Its bittersweet though because since we have stopped the shots her seizures have can back. They are not as bad as before the ACTH and I have heard that sometimes it take s a little while for their little bodies adjust to not being on the steroids. It is just so frustrating to see them again.
So in the meantime we have increased her topamax dose twice. Last night it was increased to her max dose for now and I have not really seen an improvement. She has been smiling more, about once or twice a day. I know that is not much to most but when your baby never smiles every one is so valuable!
Her seizures almost always happen in the very early morning hours, between 2-6am. Its so hard for me to sleep during that time because I am so afraid I won't hear her. The next time she has one I am going to try and record it so you can see it. Her seizures have become so weak that sometimes we just don't know if it is one or not.
I have officially quit working. I had a small daycare in my home. I always wanted to be a stay at home mom but I knew we couldn't afford that so that next best thing was to work from home. Let me just say that going in to this I never thought I would love those kids like I do. I miss them so much!! Two of the kids I watched since they were between 3 and 6 months old and now they are almost 3 and 4 years old. I know this is what I have to do though to be able to take care of my baby.
We are still waiting on the referral to Cincinnati children's hospital. I can't wait to get a 2nd opinion, not that its gonna be a different diagnosis but maybe a new set of eyes will see things differently.

Wednesday, January 20, 2010

Just a bad day

Well, we had a pretty rough day. Emily has some how got herself on a 3rd shift schedule and doesn't go to sleep until around 4 or 5am. I don't think right now is the best time to try and keep her awake during the day because she will cry and I really don't want to her to have a seizure. Once we get things more under control I will try. Maybe she will just change it herself. Its hard but I do get to nap a couple hours at a time during the day.

Last night she decided she was not going to sleep at all. I am too afraid to sleep while she is still awake because of her seizures. About 6am she started this rhythmic jerking of her feet and hands. Her fists have been clinched since she started ACTH but I was noticing her squeezing them over and over, almost every second. Shortly after that she started pulling her toes up in the same pattern. Then I felt her whole body tensing up in the same pattern. I just assumed it was a seizure and gave her the valium. Valium scares me so much because it hits her so hard and until she is asleep she gurgles and makes all of these weird noises and I am so afraid she will aspirate. She has such low muscle tone as it is (another side effect of ACTH) So needless to say I still hadn't gone to sleep.

I wanted to call the neurologist so I waited until 8am when they open and conveniently they still had not switched the phones back from Monday when they were closed. I had to keep calling and pushing buttons until I could get a human and she said the nurse practitioner will call you back in 20 min. An hour later I called them back and they gave me a million and one excuses why I couldn't talk to someone then proceeded to tell me they were tripled booked so I could not even bring Emily in the office!

Let me stop for a second and explain what else was going on. Last night the furnace went out so we were using space heaters and I have a horrible kidney stone that I think is too big to pass and I can't take pain meds because that would make me too out of it to take care of Emily. If you have ever had a kidney stone you know how bad it hurts. I am pretty sure if we had a dog it would have ran away also. :)

A nurse practitioner finally called and agreed that she did think she had a seizure and she upped her topamax dose.

We are still waiting to be referred to Cincinnati Children's hospital for a 2nd opinion.

So at what point is it ok for me to shave my head and hit cars with an umbrella? Famous people get to be admitted to the hospital with "exhaustion" all the time. What criteria do I have to meet? Just kidding!!! Really! I have not lost my mind (completely) yet.

Emily is worth every hour of lost sleep and I will fight tooth and nail for her to have THE BEST care around.

I realized tonight that we are so blessed, even with the bad things. My furnace is broke BUT I have a house to live in. I am in pain from kidney stones BUT I am alive to feel it. I am so sleep deprived BUT its because I have a daughter that I never thought I would have. We have way more than we deserve and I am thankful for all of it!

Friday, January 15, 2010

Praise post!!

Today is 2 weeks since Emily's last seizure!! Every time she flinches or moves I hold my breath and wait for her spasms to start and they haven't.

On Wed. 1st steps (an early intervention program) came to plan her treatment for physical and occupational therapy. She was in a pretty good mood and by that I mean she wasn't fussy. Since we started the meds she has reverted to a newborn-like state. We were all talking and I heard what I thought we her getting fussy but no she was LAUGHING!!!! I have never heard my baby laugh. Every time I would say something to her she would smile so big and then laugh. It was the greatest feeling ever!!

This was beautiful smile I got to see!!

We had an appt with her pediatrician and she weighs a massive 13.3lbs! She is still very little for her age, only in the 3rd % but she is gaining so they are not too worried yet. She loves to eat and I try to make most of her baby food and she is still breastfed. Emily spits up but not so much that she wouldn't gain weight so I guess she is just gonna be tiny.

meds and such

Upon the diagnosis Emily was immediately put on ACTH (steroid) injections. The neuro doc wanted to put her on a high dose so we started her on 45 units or .56ml she stayed on that dose from 12-4 to 12-24 we began weaning her on Christmas day. The doctor told us that she WILL have high blood pressure and high blood sugar while on acth, so we monitored both at home and not one time were either elevated. Also one of the major side effects is weight gain and swelling but again she only gained one pound and her swelling was min. Currently we have one more week of weaning and we are done!!!-I think it helped, her seizures or spasms gradually went down, her last spasm was on the 1st of Jan.

They also started her on zantac for reflux because its another one of the many side effects of ACTH. It only worked for a short time so we switched her to prevacid. That seems to be helping now.

We are to also give her Valium (oral) 3ml for a seizure that lasts longer than 3 minutes and we have diastat (rectal Valium) to give her if the oral Valium doesn't work in 10 minutes.

On 12-29 we started her on leukovorin (folinic acid) 2.5mg 1/2 tab crushed twice a day and pyridoxine (b6) 50mg crushed twice a day I really think these helped her. The last spasm was on Jan 1st just days after we began these.

Most recently she started rolling her eyes alot and they said it is a short quick seizure so they started her on topamax 15mg 1 cap in am 2 caps pm.-so far it seems to help her freq of eye rolling has gone down but not gone away.

She also had thrush (still has) and we tried nystatin and diflucan. It would make it go away and as soon and the meds were stopped it would come right back. The ped. told us since her immune system is down she will keep getting it so we are just gonna wait until we are done with the ACTH and then treat the thrush.

Wednesday, January 13, 2010


The day Emily was diagnosed with infantile spasms was the hardest day by far. Let me back up a little...
For several weeks we noticed Emily doing what we called her baby crunches. It mostly happened after a major meltdown. She hated the car, she would cry the entire time we had to go somewhere so when we would finally get her calmed down she would kinda jerk her arms and legs. We thought she was just really worked up and after a few minutes she would stop. I called the phone nurses at my pediatricians office and told them exactly what she was doing and they agreed that it was most likely her immature nervous system and not to worry. So we waited a few more weeks and even went on vacation to Joe's dads house 4 hours away. Her "baby crunches" continued so when we returned from vacation I called and made an appointment.

Dec 3rd was her appt and she of course screamed the whole way to the doctor. Normally we wait forever in the waiting room so by the time we see the doctor she quits do "crunches" but this day we walked in and I finally got her calmed down and then the "crunches" began and they called our name. That was a first, to be called back so quickly. The doctor walked in the room and we explained what had been going on and then she did it right in front of him. Immediately he turned off the lights and used a light to check her pupils and she didn't even flinch. My heart sank. I knew something was wrong. Then he calmly turned to us and said she is having a seizure. The room starting spinning. A million questions came to my mind but I just stood there. Nothing would come out. He then opened the door and told the nurse to call 911 for an ambulance. The ambulance was there within minutes. They strapped me to the stretcher and I got to hold her. Joe followed in the van behind us. It was all such a blur. The next thing I knew we were in the hospital with doctors and very young students aspiring to be doctors asking us the very same questions, over and over again. She had several seizures while we were there so most of the doctors and wanna-be doctors got to see them in person. No one was saying a thing. They put her on monitors and sat in a 4x4 room (literally it was sooo tiny). She had some labs drawn and a ct done and they admitted us to the neuro floor. It was so late by this point but I already knew that no sleep would be had for either of us. We still didn't have any answers and we wouldn't until after more testing the next day.

Dec. 4th, we saw several more doctors including the neurologist. They asked alot more questions but still no answers. She had an eeg done and of course the tech couldn't tell us anything. She was still so out it from all the ativan she had been given from the long night seizures that she didn't have one seizure, so we thought, during the whole eeg. Not too long after the eeg we saw the neurologist again. He was very serious and said that he had reviewed Emily's eeg and it was in fact seizures and that she even had a seizure the entire time she had the eeg. Then he said those two horrible words infantile spasms. In my head I thought well that doesn't sound horrible, heck I have had spasms in my muscles before. I guess it showed on my face because he said this is not good, this is the worst kind of seizures. I felt my heart stop, I couldn't breath, all i could do was look at my beautiful baby laying in the huge bed sound asleep. I just thought stupid doctor look at her! she is perfect! I tried to hold it together so I could retain what he was saying. Luckily my best friend Angie was there to hear what he said too. He went on to say that the prognosis for babies with IS is very poor, I heard retardation, slow, long term problems,.... He said we are gonna start her on ACTH inj today and went over the multitude of side effects, the room was spinning again. I had to hurt my baby to try and make her better. He shook our hands and said he would see us in the morning. I sat down on a chair and Joe began pasing the room. I couldn't talk, think, and I was doing good to breath. Angie hugged me and I think that is what bought me back to reality.

Self pity didn't last long. I think fight or flight mode kicked in and Joe and I were gonna fight for our baby. Don't get me wrong, I questioned a lot of things. I was mad at God! Why did He do this? Why my baby? Why us? Why give us this baby and then make her sick? How were we gonna do this? It was then I looked over at Emily and didn't see her as sick I saw MY BABY. I didn't see her as a burden I saw her as a blessing. I quit asking why us God and realized it was why not us. Why not choose Joe and I to love and raise this amazingly beautiful angel.

The reality of it all is Emily has a long road ahead of her. Her disabilities or abilities are still unknown. Joe and I will always love her no matter what does or does not happen. We will rejoice the little things that happen and be prepared for the bumps too. We have an amazing support system in family and our church family. We CAN and WILL do this!

Tuesday, January 12, 2010

before the diagnosis

When Emily was born she was "normal". They found a spot on her heart when I was pregnant so she had to see a cardiologist after she was born and he did a echo and said it was a patent foramen ovale and that you will be able to hear a murmur when she gets bigger but not to worry because it is just an "innocent murmur" and she will be just fine. She has always been under weight, around the 5% mark of babies her age. When we left the hospital she only weighed 5lbs 3oz. She has always been a pretty good eater though. Emily started spitting up and they had me increase her feeding to every 1-2 hours ( which was SO much fun :)) and for shorter periods of time. After that didn't work the dr. started her on zantac and when that didn't work they switched her to prevacid. It didn't work either so we stopped it because it just constipated her. I felt like we were at the dr. all the time. She was so fussy, she would scream ALL day long. The drs just said it was colic, one said it was reflux, and another said it was her temperament. Very few things calmed her. She pretty much lived in her swing, she would sleep in her swing at night because I had to sleep too. I can't even begin to tell you the amount of "D" batteries we went through. One thing that was guaranteed to calm her down was the bath tub. I would sometimes give her 2 baths a day just to get 30 min of peace. In the bath tub she would kick and squeal. She would talk to her toy dolphin and we jokingly said that she was a normal baby in the water and called her our little mermaid. She was behind developmentally but we just chocked it up to the fact she was so fussy and had to be swaddled all the time. She didn't smile often and was rarely happy. Through all the sleepless nights and the extreme fussiness I could not imagine loving someone more! She is the love of our lives!

Where to start?

I am starting this blog to possibly help others and to journal our journey through this craziness we call infantile spasms. So I guess I will start at the beginning... Joe and I married on March 16, 2004. We immediately wanted a family so we tried. The first year went by no baby. We were ok with it. Life was busy and it was probably good we didn't get pregnant then. We bought our first house and got settled in to marriage and still no baby. I started seeing my ob/gyn about it. I did several rounds of Clomid, we did everything she said and still, you guessed it no baby. Time for more invasive procedures. I had severe endometriosis (sp) and had surgery for that and right after the surgery they induced menopause to prevent it from growing back. After 6 months of that I GOT PREGNANT! Sadly we lost that baby 10 weeks or so into the pregnancy. More testing found that I have a blood clotting disorder called MTHFR. They told me to take high dosage folic acid and a baby aspirin for life. Once that was taken care of we got pregnant again!! I was considered "high risk" because of my clotting disorder so I had to see a perinatologist (ALOT) and take a daily blood thinner injection. I ended up on bedrest because of my blood pressure and then at 38 weeks they induced me (to make sure I was off blood thinners). Labor wasn't too bad but I wouldn't dialate past 5cm because of scar tissue on my cervix long story short epidural only took on half my body so I was knocked out for my c-section and then TA-DA Emily was born! 5lbs 9oz 19in long she was tiny but healthy. She was a little jaundice but did not need lights and we got to go home after 3 days. I know I gave a lot of info about me but we don't know why Emily has IS and maybe someone has a similar story...who knows.