Headaches Everywhere

Headache #1

Well, we thought that we would be going home today. We were approved by insurance yesterday night and our drug representative from ACTH told us he sent all of our information to the specialty pharmacy and they were going to call us in a few minutes to confirm shipment. We never received that call. I figured since this drug is so rare and with how serious Marek's disorder is that the pharmacy would be open 24 hours. HA! I called the pharmacy today and they are closed until Monday. I called the drug representative back and they said that the pharmacy will process it Monday and overnight it to us so we should have it Tuesday. At this point, if insurance would have approved us on day one they would have actually saved money since the hospital can't release us until we have Marek's drug in our hands.

Headache #2

After finding out that the drug should be here Tuesday at the earliest I wanted to inquire about how much of this drug the hospital has. The doctor explained to us that they only keep a very small "sample" amount on hand so that patients can start the drug as soon as their insurance companies approve them and typically the patients have the medicine the next day therefore the hospital doesn't keep an abundance of this drug in their pharmacy. Our nurse informed us that the hospital only had enough ACTH until Sunday morning. Ryan and I both had heart attacks. ACTH is a very powerful steroid. He is on the high dose track so they take him up injection by injection rather quickly. However, they wean him off VERY SLOWLY because the weaning process is more dangerous than the initial climb. This drug also cannot not just be stopped, there can be very serious complications if Marek were to miss a dose. Hence, why Ryan and I went into panic mode. After talking to the pharmacist, nurse practitioner and finally our neurologists we were told that they would have enough of the medication to last Marek until Wednesday. So we will be holding out breath yet again until our medication is finally in our hands.

The whole process is frustrating because we should be in the safety of our own home not here in the hospital where there are germs everywhere. The hospital told us they are trying their hardest to give us our own room but the floor is pretty much full and they can't turn down patients. Ryan and I have been sanitizing everything. We are to the point of being paranoid about every nurse or tech that comes in because we don't know who else they have taken care of, and to us, with our child with a compromised immune system, "hand washing" isn't enough. If we could put him in a bubble at this point we would.

Marek has been doing great with getting the injections. I gave my first injection without crying (yes I mean I didn't cry) this morning. We have discovered that if we feed him while we are giving him the injection it takes his mind off the pain. He is still having seizures and we haven't seen a 'noticeable' decrease in the length or the frequency of his seizures but the doctor assured us today that it may take some time. I was hoping for the miracle case of "first injection and seizure free" but I guess all good things take time.

Day #1 ACTH

This morning we woke up thinking we would start on ACTH. However, every time the nurse came in we would ask, "Did the insurance approve the medicine yet?" and hour after hour she would inform us, "Not yet." Hours seem like weeks when dealing with IS.

Around noon we started to lose our patience and confidence that everyone involved (doctors, pharmacy, insurance company etc.) was working together to get this medicine for Marek. Ryan and I started making phone calls, first to our drug representative at Acthar, then to the insurance companies, the benefits office at Ryan's work and doctors here at Children's. What we discovered is that A).  insurance companies can be cruel and B). the system doesn't run as smoothly as it should. As my mom kept saying all day, "the right hand isn't talking to the left hand." 

After being transferred here and there we were told that all the insurance company was missing was a letter from the doctor saying that Marek needs this medicine. The logic behind that blows my mind, why would we be giving our son the most powerful steroid out there that could possibly kill him if he didn't need it? So we tracked down our doctor who wrote the letter and faxed it. We waited an hour and called the insurance company to confirm that they received the letter. Surprise, surprise they didn't. As I was talking to them they told me (at 2:30 pm) that is was too late to complete the paperwork today even if they received the letter. As they told me this I was watching Marek have a seizure and counting his spasms. I couldn't believe that insurance companies call it quits at 2:30 when they are open until 4:30. That would be like me quitting teaching the last two hours of my day, no big deal, no one is negatively effected by that right? I couldn't hold it together anymore, I just broke down and cried on the phone. I didn't understand why this was happening to my son. Maybe my emotional breakdown was enough to remind the person on the other end that they are dealing with real people's lives and them dragging their feet could possibly be costing my son his future. After that they worked extremely hard on talking to the correct individuals to get the first vial of medicine approved.

Later on they explained to us why the process is so complicated. They were unsure as to who was going to pick up the coverage on the ACTH (with a grand total of $145,000), the medical insurance or the pharmaceutical insurance. They tried to tell us that they were working on saving us money. Depending on which company picked up the coverage it would cost us either $145 or $4,000 a month. We explained to them that we didn't care how much it would cost us we just wanted the medicine NOW. We got approved for the first vial around 5:00 p.m. 

It was a small celebration...YES we have our medicine, but now back to worrying about side effects and the effectiveness of this medicine.

Marek had his first dose of ACTH (20 units) at 7:00 p.m. I gave him his first shot as we all said a silent prayer asking for God's healing power. It was emotional giving Marek his first shot not only because I was sticking my child with a needle but because it became so real that the drug is finally in his system and how desperate we are for it to heal him. 

Please continue praying for our little guy. We have taken the big risk, now we want the big reward. 

Decision Made

After a long night of weighing our options we have decided to go with ATCH. Watching Marek have a 31 minute seizure this morning with over 200 spasms just confirmed our decision. If we really want him to have the best possible future we have to be aggressive with the treatment. Although the next six weeks will be even more stressful and scarier than the first part of our journey I am staying hopeful and praying it will get us to our seizure free destination.

We informed the doctors of our decision and they told us they were still waiting for insurance to approve everything. They are thinking that tomorrow we can start the medication. Our nurse came in to help Ryan and I start learning how to give our little man the injections. She brought the needles, syringes, alcohol and two oranges to practice on. It was a little overwhelming making sure measurements were correct, no air bubbles in the syringes and that everything was sterile...and that was before we even practiced giving the actual injections to our oranges. Although my hand was shaking and I was scared for my little orange our nurse gave both of us A's for our first run through. If I was that nervous practicing on an orange I can't imagine what I will be like when I have to give Marek the ACTH. We also learned how to take blood pressure since Marek's blood pressure will be checked three times a week. It took us a few tries but I think we have it now. I needed a little more practice than Ryan so my mom lent me her arm. Thanks Mom, hope it isn't too bruised! We also found out that insurance approved a home healthcare nurse to come to our home during the treatment of ACTH to help monitor his health.

The doctors finally gave us the results to the EEG. They told us there wasn't any change to the hypsarrythmia. We were sort of expecting that news since Marek is still having clusters of spasms. They told us that the Vigabatrin might be the reason why Marek is developing however, we really won't know that for a fact until we see how he does over the next three weeks as the doctors wean him off of it.

Marek turned 6 months old last week and unfortunately we have been so consumed with infantile spasms and everything that accompanies the diagnosis that we have had little time to focus on the little things. I have always taken his monthly pictures in our lazy boy and with things being so chaotic I neglected to do that. I don't want to look back years from now after this storm has passed (WHICH IT WILL!!!!) and have an empty month in his album. I think I have been so worried, concerned, sad, and upset to try to do anything "normal" with peanut. But I don't want my emotional roller coaster to ever effect him or ever take anything away from him. He deserves the world. Therefore, my mom brought up his monthly board and we took his six month picture here at the hospital. Mighty Man even wore his cape for his photo shoot.

Ryan and I have been overwhelmed by how much support, concern and love everyone is showing Marek. We were brought to tears today by how much everyone is willing to help us. THANK YOU! Those words don't even come close to being able to express the gratitude and appreciation we feel towards our family and friends.

So as of now, tomorrow is our big day to start Marek on his MIRACLE DRUG. We have to believe that this will be the fix for our little man.

Decisions

Morning

Our neurologist came in to tell us that he has us scheduled for Marek's third EEG. They want to see if the Vigabatrin has cleared up any of his hypsarrhythmia since he has made developmental gains. Although I love Children's hospital and their amazing staff I hate the fact that staff members remember us and know our names. Our tech was very nice, she commented on how big Marek has gotten in the week and a half since she has seen him. Marek must be a pro at EEGs  now, he slept the entire time she was hooking him up. Even though this is his third time getting this test ran it still breaks my heart when I see my sweet little boy hooked up to the wires and machine.


Afternoon
Ryan and I were 100% certain we wanted to start ACTH, hence why we are here at the hospital. Therefore, the doctors came in this afternoon to talk to us about our decision to chose ACTH. Most people, myself included, would think that if there is a drug out there that could help give my child the best future possible why wouldn't you start it immediately. But when they came in to talk to us about the side effects and then gave us the statistic that ACTH has a 1%-3% mortality rate my whole outlook changed. It's hard to decide whether to listen to my head or my heart. My head is telling me that this is the best drug out there from all the research being done (which isn't a lot since research is driven by money and since there isn't many cases of IS there isn't money to do the research) but my heart is telling me that any drug that puts my child's life on the line isn't worth it.

It literally is sickening to have to make a decision like this. Ryan and I go over every situation, every precaution we could take, every outcome that is possible and yet we aren't 100% sure what decision to make now. As parents we are suppose to make decisions for our child at this age in regards to which baby food to try first, what sleeper to wear, what schedule we can get him on or what baby proofing contraptions we should invest in. But instead we are deciding what medicine to put him on that will hopefully do more good that harm. Our entire lives have changed in these last three weeks. I read a blog from a mother who had a child with IS and she said it best; instead of updating baby books she is updating seizure logs, instead of taking videos of her child reaching milestones she is videotaping seizures so she could show the doctors and instead of anticipating each day and what her child will learn she fears each day because of what her child could lose. This basically sums up our lives now.

Tonight
We are still up in the air as to what our decision will be. We are waiting for the results of the EEG, hopefully we will get them in the morning. We are also still waiting the approval of ACTH from our insurance. Each vial of ACTH costs between $25,000-$30,000 and we will need between 3-4 vials to complete our six week treatment if we go this route. They said we can take tonight to decide what we want to do since they can't start the medication anyways. I wish we had a crystal ball that could tell us what the future holds.

Hospital Stay #2

Marek woke up in a great mood. He ate a nice big breakfast so he would be happy for his PT appointment. Unfortunately as he was in his car seat on our way out the door he had a another cluster of spasms and of course it lasted 20 minutes. Marek always gets very sleepy after a cluster and ends up taking a pretty long nap afterwards. So we knew then PT was going to be a challenge.

On our way to PT I was on the phone leaving another message with our neurologist. It was literally making me sick to my stomach every time he had a seizure and I still hadn't heard back from his doctor. 


PT actually went fairly well given the incident that happened right before we left. He was cranky and really tired but his physical therapist assured us she was able to see everything that she needed in order to complete her evaluation. I'll start with the good news first. He was able to perform the "stair climb" which is a reflux that babies should have that precedes walking. We were pleased to hear that. She informed us that he has very low tone throughout his trunk and that will be her main focus to begin with. She walked us through a number of exercises that we can help him do at home. She also taught us two new ways to pick Marek up. She told us our days of just scooping him up and holding him are behind us. We now have to maneuver him to the "sitting position" before we pick him up...EVERY TIME! This will give him dozens of opportunities throughout the day to use his muscles. We started practicing when we got home, we ourselves have a lot of training to do. I picked him up the old way a few times and after he was in my arms realizes it so I put him back down and re-picked him up the new way.

We finally got a phone call from the neurologist around 2pm. I explained to him that we are not happy with his current medicine and we think it is time to start on ACTH since his clusters were getting worse. Thankfully he agreed! He would like to start weaning Marek off of the Vigabatrin, but said he could start the ACTH in the process. I learned that taking a child off of these drugs is very serious and it has to be done very slowly. It will take Marek over four weeks to be weaned off this drug.

We were told that the neurology floor at Children's was full but the neurologist would put our name on the list to get the next available room. I was a little upset that we couldn't start as soon as I hung up the phone with the doctor. (When you have a child that has IS you know that every day is crucial in the fight against spasms).Children's called me an hour later to tell me they had a room for Marek and to bring him in. So we packed up all our things. Let me tell you that we felt like "seasoned" hospital goers this time around. We knew exactly what to bring in order to keep Marek happy and occupy ourselves as well.

So we are now at the hospital. We will start the paperwork tonight. They informed us that it is quite a lengthy process to get the ACTH but the good news is that they have a supply on hand at Children's and that it won't be coming from Canada. ACTH will be given to Marek through injections in his thighs. Boy are we happy that our little peanuts has some extra chub on his legs. Hopefully he won't feel a thing. He won't receive his first injection until tomorrow. The doctors will be administering his first few doses while Ryan and I practice giving injections to an orange. They want us to be able to show them that we are capable of giving Marek injections before we leave the hospital.

At this point we are unsure how long we will be in the hospital and how long he will be on this drug. ACTH has a LONG list of side effects from high blood pressure, increase in blood sugar, change in body looks, irritability, increased appetite and weight gain, suppressed immune system and even death. (You can only believe how hard I had to swallow after he listed the last side effect). His glucose and blood pressure will be monitored closely over the next few weeks.

Since Marek will have a suppressed immune system we now have to become very careful with him and germs. We are going to have to become "mean" parents to keep him safe. While on ACTH we are going to have to be on "lockdown" at our home. We can't have any visitors not even Marek's Gigi, Grandpa, Papa or Aunts and Uncles. My mom and I will be staying home with him and Ryan will be our "lifeline" to the outside world (as long as he stays healthy). It breaks my heart that I have to ask our family and friends to stay away at this time so that Marek stays safe. We know how much everyone loves him and will be missing him. You can always drive by the house and look through the window :)

We are praying with all our might that this works. We have heard stories that after one injection children never had a cluster again and we have also read that it could take weeks. We would love more than anything for that first dose to be his magic potion but as long as they stop we will be over the moon excited.

Might Man Marek is one strong baby and he is going to win this battle against Infantile Spasms. He even has his own cape thanks to Jordan's mom Valerie for making him one. Continued prayers are appreciated as he starts down this new road.

WE NEED OUR SUPERHERO HEALTHY.

Weekend Update

I haven't updated everyone in a few days because there really isn't anything to say. Marek is still having seizures. He has had some of the longest ones thus far over the last three days, one was 30 minutes long. Ryan and I have officially given up on this drug. I can't even explain how empty we feel now that the one thing we have held on hope to help our son is what we despise. Ryan even said this morning as we were forcing the medicine down his throat (because he hates it so much) that it is not worth the fight anymore. I already have a call in to the neurologist requesting him to call us so we can ask him to start ACTH. We are hoping he will listen to us after we explain that not only do we not see a decrease in seizure activity we are actually seeing them get longer. We are unsure how things will go tomorrow but I will make sure that I keep everyone updated.

Since we really don't have any "good" (in the seizure world) news I will share our weekend with everyone instead because we did have a "good" weekend with our son with lots of visitors and love.

Thursday night we had a surprise visitor, my aunt Lynn (my mom's sister). She drove 4 hours from Crown Point, Indiana to see peanut. Since we were already sleeping when she got here Ryan let her in and she slept on the couch until Marek woke us up around 12:00 am. She then snuck into our room to surprise us. On Friday she took my mom out for an Italian dinner (my mom needed a few hours away and I know she appreciated being able to have some sister talk over a glass of wine). Later that night my mom and my aunt MADE Ryan and I get out of the house for a few hours. Neither one of us wanted to go but they insisted. It was nice to have a few hours to breathe but both our minds were back home. Saturday Aunt Lynn left but not without giving us some delicious soups...THANK YOU!


Saturday Marek had many visitors. First was two of my closest friends from work, Terrie and Cara. Marek really liked Terrie and giggled at her almost the whole time. Not only did they come to show their support they brought Marek a gift from the CHS Spanish Club. They had made him an elephant from Build a Bear, dressed him up in a Superman costume and named him Valiente (Brave). It brought me to tears. Thank you to each member of the CHS Spanish Club, it was so sweet of all of you!!! Cara also brought us a very generous envelope filled with gift cards and money from many of my co-workers at CHS. I promise I will thank each and every one of you when I return to work (which I will do because I know we are going to beat this) but until I do I just want to say THANK YOU from the bottom of our hearts.

Nicole also came over Saturday to snuggle with Marek and to spend time with us. We told her that Marek was sleeping in the Pack n Play in our room which he seems to be very uncomfortable in so she was kind enough to lend us Abby's Pack n Play mattress. THANK YOU!!

Saturday night was a girl's night with Marek. My mom, sister-in-law Jordan and I played with Marek and enjoyed catching up on some shows and a little girl talk. It was a WILD night.....we were in bed by 9pm. THANK YOU Jordan for keeping us company and playing with Marek. (He sat in his little chair for an hour and a half while she was here).

Sunday again brought lots of company. Ryan's mom and dad came over with clam chowder which was amazing. They also cleaned our house. I APPRECIATED that so much! They were able to play with Marek and get in some cuddle time. Aunt Darlene and Uncle Gary also stopped by with enchiladas and balloons. Marek has been soaking up all the attention. He knows when someone is watching him and is such a little ham. THANK YOU ALL!!

Our last visitor was my dad. He flew in from Chicago to spend the next two days with us.

Although we feel defeated in our fight against IS at this point we had an amazing weekend with our little man. It was full of laughs and smiles. All our tummies are pretty full too with all the generous meals everyone made for us.

This coming week brings new hope for Marek and new fears for us as parents. We have heard so many success stories in regard to children with IS receiving ACTH, but in the same breath we have heard the opposite terrifying unsuccessful stories as well. It is scary because this really is the last drug that is known to be consistently successful (even though the success rate is around 60%) with treating IS. If we have to go beyond ACTH, which I don't even want to think about, we would be traveling down a road that very few have had success with. I will be praying even harder this coming week, if that is possible, and we ask for everyone's continued prayers as well.

We NEED this drug to be his miracle.

Today's menu: TOES

After a very sleepless night (I swear Marek was up every hour) he "woke up" in a very chipper mood. He discovered for the first time his toes! I know that this is very common in babies and no one really gets excited about their child discovering their toes but Marek has never shown any awareness of his feet and to watch him look at his feet, grab at them, and even taste them made me smile. He was quite the happy boy all morning long, telling stories, watching Mickey Mouse and giggling.

Our morning fun was interrupted by a cluster of spasms that knocked Marek out the rest of the early afternoon. It just sucks, it is unfair and I get so mad that this is happening. I wake up each morning thinking, "today is the day that he won't have a cluster of spasms." And that will stay with me all day....until I lose my son to another seizure. Hope can give you such happiness but it can also take you to a low beyond all lows when you feel it disappear.

I let Marek take a long afternoon nap and then filled him up with some oatmeal and apples. I think feeding him is one of my favorite things to do all day because he LOVES to eat and is so happy when someone is filling his "little" tummy up. We headed to Marek's first occupational therapy session at 2 pm.

Let's just say that Marek wasn't too keen on "working out" and he let his therapist and the entire facility know it. His high pitch scream that he has recently discovered was working on overtime. Even though he wasn't happy about doing exercises he put forth some effort and showed his therapist what he was able to do. I knew that Marek was behind on his gross motor skills but I always thought that he did pretty well with his fine motor skills. Well I guess it's a good thing I am not a therapist because I was way off the mark. Maybe it was because I wanted Marek to be "normal" in at least one area. The therapist told us that he is performing at a 2 month old level of development. He has great social and communicative skills but is struggling with his fine motor skills. We were given some muscles exercises to work on with Marek and a few stretching activities to do with him over the next week.

Our therapist gave us a great app to download for Marek to use while doing tummy time. We dowloaded it as soon as we got home and Marek did 15 whole minutes WITHOUT crying on his tummy while playing with the app.

His Gigi and Grandpa came over to visit and eat dinner with us. He had a small cluster of spasms before we ate but after that he enjoyed bath time, snuggles and even played some songs for them on his new app.

We got an unexpected call from Marek's neurologist tonight. He called to tell us that all his blood work and urinalysis have come back normal including the good news that his bicarb level is back to normal (24). He then asked us how his spasms were doing. We told him that he is still having as many clusters per day as he did when he left the hospital. We did tell him though that Marek is now reaching for toys directly in front of him which he has never done before. The doctor informed us that he wants to give Vigabatrin a full two weeks before we decide to change medications. I am to call him Monday and if we don't see a clear sign that the clusters are decreasing he will admit us to the hospital where we will start ACTH.

I have to take a minute to thank everyone once again for the continuous texts, emails and calls checking in on Marek. You have no idea how much they mean to us. Please keep the prayers coming!!!

Marek, Ryan and I are so blessed that we have two amazing families that would do anything to help us. Our parents, siblings, and sister-in-law have helped us so much these last two weeks. I especially have to thank my mom who has taken a leave of absence from work to help me day and night with Marek. I feel so bad that Ryan has to go to work each day when I know his heart and mind are at home so we try to let him get some sleep so he can function at work each day. I don't know what I would do without you Mom...THANK YOU!!!

Pity Parties Can't Last

Yesterday was a hard day on everyone. Marek had his longest cluster of spasms since he had been home and I think everyone was feeling discouraged. It's like we hold our breath between clusters hoping they won't come back, praying and bargaining with God to let him wake up from each nap spasm free and then they come back. It is as if we are being stabbed in the heart each time it happens. We feel so helpless while he is having his spasms. I personally feel like a failure of a parent for not being able to stop this disease from harming my son. However, no matter how beaten down we feel we have to pick ourselves up and move forward. So after some tears, frustrated rants and snuggle time with our peanut we went to bed reminding ourselves that tomorrow is a new day.

Today I met with our coordinator from First Steps. She was very nice and explained the program in great detail. We scheduled a day for the Physical Therapist, Occupational Therapist and Developmental Therapist to come to the house to do an "arena" evaluation on Marek. The coordinator informed me that it would be a month before Marek could start therapies IF he qualified, which she was pretty sure he would. After she left I talked with my mom and we both agreed that waiting a whole month was unacceptable. Babies learn so much in a month and in Marek's case he could potentially LOSE so much in a month. I completely understand that there is a process that First Steps needs to follow and that it takes time for insurance approvals however, given the fact we have been unwillingly participating in the waiting game to see if the medication Marek is on is going to work I couldn't sit back and play the waiting game with therapy.

This afternoon I called almost every pediatric therapy facility in St. Clair county before I found one that would take our insurance and had an opening within a week. Marek is scheduled for OT tomorrow at 2pm and PT Monday at 2pm. Ryan and I feel that the sooner the better when it comes to working on his development. I am looking forward to seeing what we can do to help Marek progress with his development.

After all the therapy appointments were made Marek, my mom and I went on a very VERY quick walk around our neighborhood. It was pretty chilly but Marek loves being outside so we bundled him up and walked fast. He talked and laughed the whole way.

Unfortunately our fun day was interrupted by a spasm cluster that lasted for 20 minutes with over 100 spasms. The last couple of days his seizures seem to be getting longer. He was exhausted afterwards yet he still managed to tell his daddy about his day and give him some smiles.

We finished the day with sweet potatoes, carrots and cereal. We let Marek have some fun and play with his food tonight. He made us laugh all throughout dinner. We love him so much!!

The Waiting Game

What has been happening since we have been home?

Marek continued to take 250 mg of Vigabatrin twice a day from Wednesday to Saturday. Since we didn't see any decrease in seizures we increased his dosage to 500 mg twice a day on Saturday. The medicine is basically a crushed up pill that we dissolve in water. In simple terms it is chalking pill water that he has to take and he HATES it, but we get through it each day and reward him with a big bottle of formula.

On Monday, January 19th I was able to talk to the Neurologist again. I explained to him that we still were not seeing any decrease in seizures. He asked how Marek's mood was, how awake he was during the day and how his "play" was. I told him that other than the seizures he is a very happy, playful little boy. With Infantile Spasms, the longer the seizures continue the higher the risk that the child will start to regress with their developmental skills so we are keeping a close eye on Marek's babbling, smiling and play. The doctor decided to increase his dose one more time to 750 mg twice a day on Monday (he is now on the max dosage given his size). We are to continue to wait and observe him until Friday when I check back in with the neurologist.

On Monday we went and had Marek's blood drawn for a Renal Panel and to check his Bicarbs. He is such a tough little man. He didn't cry, whimper or flinch when they took his blood. He was rewarded with a trip to Toys R Us where my mom and I bought him new toys, a play mat and a new sitting chair that we can help work with him as we try to get him where he needs to be developmentally.

Ryan went back to work on Monday as well. It was so hard for him to be away from Marek. I try to keep him updated throughout the day. We are lucky he works close enough he can come home from work at lunch time to check in on the little guy. I have taken a medical leave from work so I can monitor Marek and hopefully start therapy exercises with him. Tomorrow the coordinator from First Steps is coming to our home to start the paperwork for all Marek's therapies. (Physical Therapy, Occupational Therapy and Speech). My hope is that we can start therapy as soon as possible and it won't be a long drawn out paper trail to get things started.

Once again thank you to everyone who has brought us dinners, sent us gift cards, stopped by to spend time with Marek and to all who are constantly praying and sending their love Marek's way. We are taking it one day at a time.

What is Infantile Spasms?

I have had a lot of people ask me to explain what exactly is Infantile Spasms. This is an article from Washington University that describe all aspects of the disease.

Infantile Spasms

by Michael Wong, MD, PhD

Dr. Wong is an Assistant Professor of Neurology at Washington University School of Medicine and an epileptologist in the Pediatric Epilepsy Center at St. Louis Children's Hospital.

Introduction

In 1841, West originally reported infantile spasms as an unusual and severe form of convulsions witnessed in his own son. Despite the medical advances over the past century and a half, infantile spasms remain one of the most complex and challenging conditions in pediatric neurology. This article will review the major features of infantile spasms, including clinical features, etiology, treatment, and prognosis.

Clinical Features

Even the terminology surrounding infantile spasms is complex, as the term infantile spasms has been used to refer to both a specific seizure type and a complete epilepsy syndrome. The seizure type of infantile spasms (also referred to as epileptic spasms or simply spasms) is characterized by brief, but often repetitive, muscle contractions usually involving the head, trunk, and extremities. The epilepsy syndrome of infantile spasms (also known as West syndrome) consists of the classic triad of the epileptic spasms, hypsarrhythmia on EEG, and mental retardation.

Spasms, the seizure type, may have variable features, but have been categorized primarily into three subtypes (flexor, extensor, and mixed flexor-extensor) based on postural manifestations and patterns of muscle involvement during the seizure. Flexor spasms involve flexion of the neck, trunk, and extremities, resulting in jack-knifing at the waist and a self-hugging motion of the arms. Extensor spasms consist of extension of the neck, trunk, and extremities. Mixed flexor-extensor spasms involve combinations of the above. While often confused with myoclonic or tonic seizures, spasms represent a distinct seizure type.

Individual spasms typically last for less than 1 second to up to 5 seconds. In many patients, spasms exhibit characteristic temporal patterns. Fifty to eighty percent of epileptic spasms occur in clusters of 2 to more than 100 seizures. Patients may have dozens of clusters and several hundred spasms per day, but individual variability in seizure frequency is often large. Although spasms rarely occur during sleep, clusters of spasms are frequently activated after awakening from sleep. Spasms are occasionally triggered by loud noises with associated arousal from drowsiness and sleep, but are not sensitive to photic stimulation.

Approximately one-third to one-half of patients with epileptic spasms also have other seizure types preceding or accompanying the onset of the spasms. Associated seizure types include partial, myoclonic, tonic, and tonic-clonic seizures. Spasms usually cease spontaneously by age 5 but are often replaced by other seizure types. Mental retardation and cerebral palsy occur in about 75% and 50% respectively of children with infantile spasms. The common combination of epileptic spasms, mental retardation, and hypsarrhythmia on EEG (see below) constitutes the classic infantile epilepsy syndrome of infantile spasms or West syndrome.

The EEG characteristics of patients with infantile spasms have been well-described. The classic interictal (baseline) EEG pattern of patients with epileptic spasms is hypsarrhythmia. Hypsarrhythmia represents a completely chaotic and disorganized background pattern consisting of high amplitude slow waves and spikes that are asynchronous, non-rhythmic, and variable in duration and topography. The spikes usually alternate randomly between focal, multifocal, and generalized discharges at different moments within a brief record. Hypsarrhythmia represents a very dynamic pattern that may change dramatically on a time scale of minutes, hours, and weeks or longer. On a larger time scale, hypsarrhythmia usually develops during early infancy and disappears by early childhood. The ictal (seizure) EEG correlates of epileptic spasms have been studied in detail using EEG-video monitoring. Kellaway et al. first described eleven different types of ictal EEG patterns consisting of various combinations of generalized sharp or slow wave discharges, generalized voltage attenuation (electrodecremental discharges), and fast activity. Overall, electrodecremental discharges represented the most common ictal feature, occurring in over 70% of recorded spasms, but could also occur in the absence of an obvious clinical seizure.

Etiology

From an etiological standpoint, infantile spasms can be divided into three main categories: symptomatic, cryptogenic, and idiopathic. Because of advances in neurodiagnostic testing, symptomatic infantile spasms now represents the largest category. Patients with symptomatic infantile spasms have an identified underlying neurological disorder that directly causes the spasms. The number of neurological diseases that can result in spasms is enormous, but some of the major categories include intrauterine insults and infections, hypoxic-ischemic encephalopathy, malformations of cortical development, metabolic disorders, other genetic or chromosomal defects, meningitis, tumors, and neurocutaneous syndromes.

In both cryptogenic and idiopathic infantile spasms, no specific cause is known. However, due to the coexistence of other neurological symptoms, especially severe developmental delay, cryptogenic cases are presumed to have an unidentified underlying neurological disorder. Idiopathic cases of infantile spasms are extremely rare and, by definition, consist of patients with normal development and a good prognosis without any coexisting neurological conditions.

Treatment

Due to the poor prognosis of infantile spasms, treatment is usually initiated quickly and aggressively after diagnosis, often at the risk of serious side effects, with the hope of changing the natural history of the disease. For approximately fifty years hormonal therapy with ACTH or prednisone has been the staple of treatment for infantile spasms. However, studies detailing the therapeutic properties of these compounds have been fraught with uncertainty. Many controversies still exist concerning the relative efficacy, optimal dose and timing, and predictive factors for good responsiveness to ACTH and corticosteroids. No placebo-controlled trials of ACTH or steroids have been performed. In most open-label or retrospective studies, ACTH or prednisone induces a reduction or complete cessation of spasms, as well as an improvement in the EEG, in approximately 50-75% of patients. This effect is usually realized within a couple weeks. While some studies report similar efficacy of ACTH and prednisone, others indicate that ACTH is more effective. Some patients who do not initially respond to ACTH may respond to prednisone and vice-versa. A large variety of doses of ACTH have been used, but there is no evidence that larger doses (150 units / meter2/day) are more effective than lower doses (20-30 units/day). Longer treatment periods usually do not improve remission rates. While relapses occur in about one-third to one-half of patients, a second course of ACTH is often effective.

A variety of findings have been reported with regard to predicting responsiveness to ACTH or steroids. Some studies, but not others, demonstrate that shorter time lag between diagnosis and treatment improves initial remission rate. Age of onset of the spasms has occasionally been correlated with treatment efficacy, with later onset (>8 months) having a better seizure control. Whether etiology of the infantile spasms influences responsiveness to treatment is also controversial, as some studies report equal efficacy in symptomatic and cryptogenic groups, but others find a better response in the cryptogenic group. Finally, the effect of hormonal therapy on long-term neurodevelopmental outcome is unclear. While some studies report an association between initial responsiveness to ACTH and improved long-term intellectual development, others found no significant difference in prognosis between initial responders and non-responders to hormonal therapy.

Hormonal therapy with ACTH or corticosteroids may have significant, potentially fatal, side effects. While weight gain and cushingoid features are among the most common side effects, ACTH or corticosteroids may also produce hypertension, metabolic abnormalities, severe irritability, osteoporosis, sepsis, and congestive heart failure. Given the serious morbidity of hormonal therapy, a number of other therapies have received attention for infantile spasms.

Among conventional antiepileptic drugs, valproate and nitrazepam have been shown to be effective as first-line therapy in placebo-controlled clinical trials of spasms. Newer antiepileptic drugs, such as felbamate, lamotrigine, topirimate, and zonisamide have been tried with some success as adjunctive therapy in infantile spasms. Few studies have directly compared these other agents with hormonal therapy, making conclusions about relative efficacy difficult. The most exciting recent development in the treatment of infantile spasms had been the emergence of vigabatrin as a potential first-line therapy comparable to ACTH, as supported by multiple studies. Vigabatrin may be especially effective for spasms in patients with tuberous sclerosis, with some series reporting complete control in about 95% of patients. Unfortunately the initial enthusiasm for vigabatrin has been tempered by recent reports of visual field constriction due to the drug, which will likely prevent vigabatrin from becoming an approved treatment in the United States and limit its utility in other countries. Thus, other new anti-epileptic drugs may be investigated more thoroughly as potential first-line therapy for infantile spasms.

In addition to medication, there are some potential surgical options for infantile spasms, although they may only be applicable to a small percentage of patients. Although in most patients the precise source of the spasms in the brain cannot be localized, there is a small minority of patients who have secondarily generalized spasms from focal cortical lesions, which can be surgically removed. For patients without a surgically-resectable lesion, corpus callostomy has been reported to dramatically improve spasms, as well as other seizure types, such as drop attacks.

Prognosis

Many studies have examined the long-term prognosis of patients with infantile spasms. Although there is substantial variability in specifics reported from different studies, by all accounts the majority of patients with infantile spasms suffer a poor outcome with respect to chronic epilepsy, mental retardation, and other neurodevelopmental disabilities.

Epileptic spasms usually resolve with or without treatment in the majority of patients, generally by mid-childhood. However, other seizure types arise in 50-70% of patients. Similarly, on long-term follow-up, chronic intractable epilepsy is present in approximately 50% of patients with a history of infantile spasms. A close relationship between infantile spasms and Lennox-Gastaut syndrome has been consistently observed. Twenty to fifty percent of patients with infantile spasms evolve into Lennox-Gastaut syndrome and conversely, a similar percentage of patients with Lennox-Gastaut syndrome have a history of infantile spasms.

Mental retardation occurs in 70-90% of patients with infantile spasms, usually involving severe to profound retardation. Other neurological deficits, such as cerebral palsy, may be seen in about 30-50% of patients. By far, the most important factor in predicting neurological prognosis, including developmental outcome and long-term epilepsy, is etiology. In some studies, patients with cryptogenic infantile spasms have only a 30-50% chance of mental retardation compared to 80-95% for patients with a symptomatic etiology. Factors that have been associated with a good prognosis include normal neurological exam and development at onset, absence of other seizure types at onset, older age of onset, short duration of spasms, and early effective treatment of spasms (reported with ACTH).

Conclusions

Children with infantile spasms represent one of the greatest challenges in pediatric neurology. Accurate diagnosis depends on a thorough understanding of the clinical and electrographic features of spasms. Diagnostic evaluation should employ a rational approach for identifying potential etiologies of symptomatic infantile spasms. Decisions about treatment should take into account the poor prognosis of infantile spasms, conflicting data about the impact of treatment on long-term outcome, and the potentially serious side effects of treatment. As more is learned about the causes and pathophysiology of infantile spasms, hopefully more effective and safer treatments (perhaps including neuroprotective agents) will be developed. Given the profound neuro-developmental sequellae of IS, the ultimate goal should be the primary prevention of IS.

Week of Hell

Marek started on his first drug, Topamax, Thursday, January 8th. He was still having seizures therefore on Saturday, January 10th the doctors increased his dosage. As they tried to find the right dosage for Marek they monitored him closely. Every morning they ran blood checking to see if his bicarbonate levels were normal (Topamax can cause acidosis). Unfortunately, his levels continued to fall, they were at 14 (normal is between 20-27) on Monday, January 12th. His body couldn't handle this drug, which we thought maybe was starting to work since he went 24 hours without a cluster of spasms. The doctors decided to take Marek off of Topamax since his body was rejecting the medicine. They decided to try a new drug called Vigabatrin. This drug would be coming from Canada and would take a few days to get to the hospital so they put Marek on Onfi to bridge him between the two medications.

Vigabatrin is one of the first line drugs against Infantile Spasms along with ACTH (steroids). They decided to try Vigabatrin first since it is cold & flu season and a side effect for ACTH is a dramatic decrease in the immune system. Vigabatrin comes with its own set of side effect including loss of appetite, drowsiness and the scariest being vision loss. As Ryan and I talked about whether to start Vigabtrin or not we really asked ourselves if the risks were worth the possible benefits, which we decided they were, so we gave the doctors the go ahead to start the medication.

On Wednesday, January 14th we started Vigabatrin with Marek. He was on a 250 mg twice a day. The doctors also check his bicarbonate level and it came up to 17. Although it wasn't normal they felt it was high enough to let us go home. We would return to get blood drawn in a few days to get to the bottom as to why his levels didn't return to normal even after allowing Topamax to leave his system. As we went home Wednesday night we were happy to be in the comfort of our own home but scared out of our minds because nothing was solved, better or even heading in that direction....and now we were alone. No doctors to come in during a spasm episode, no one we could pull into our room to ask questions to on the spot and no more tests to be ran at this time to see if we could get to the bottom as to what caused Marek to have IS. We were terrified, but we got Marek home, gave him a nice long bath (which he LOVED) and tucked him into bed (or into his pack n play which will now be next to our bed until we get through this).

Throughout our first week of hell, and trust me it has truly been hell, we have been so lucky to have such amazing family members and friends in our lives. Between both of our parents being at the hospital day in and day out, Cole & Jordan and Kourtney coming after work/school, Aunts and Uncles coming for surprise visits and our friends stoping in to bring us food and keep Marek company, we were surrounded by love. As well as all the prayers and thoughts being sent Marek's way through Facebook, texts and emails we are just holding our breath as to when the power of prayer will shine through and give us the results Marek so desperately needs.

The Diagnosis

The last few days have been the most difficult and scariest days of our lives. It all started (although we didn't know it) on the plane ride going to Mexico two weeks ago. As we landed, our son Marek was sitting on my lap looking at his daddy when his eyes would rhythmically widen and he would push his neck forward. We thought it was funny and considered it to be a reaction from the pressure of flying since it was Marek's first plane ride. Our whole vacation he was a happy little "normal" 5 month old. He went swimming, we took him to the beach and played with him in the sand and enjoyed just having fun with him. We met a lot of other families at the resort with kids around the same age as Marek and what I was amazed at was how much they were doing developmentally that our son wasn't doing. Marek doesn't hold his head up when he is on his stomach, he doesn't reach for toys or straighten his legs when they touch the floor. I had been concerned about these things before but I kept hearing from everyone around us that babies will do this with time.

On Tuesday night January 6th Ryan and I put Marek to bed and like always he would continue to cry so we would go in there every ten minutes to check on him. One time when I went to check on him I saw something I never had before. He would throw his hands over his head and straighten his legs in a spastic very jerk way for just a second and then relax for 15 seconds. He continued this pattern for about 5 minutes. I found it strange but I thought maybe it was because he was crying so hard and that was his body's way of calming down.

The next evening, Wednesday January 7th Ryan and I were sitting on the couch and Marek was sitting on my lap. All of a sudden he started throwing his hands over his head again and straightening his legs. The same pattern that I had observed the night before. As we watched our son, we became worried and knew that something wasn't right. I grabbed my phone and started taking a video of it. I sent it to my aunt Lynn and our friend Amy (both are nurses). They told us to call the doctor. The on-call doctor told us that if he had another episode to go to the ER but if not to just come in the next morning. Marek didn't have another one that night so we were scheduled for an appointment at 9 the next morning.

We met with our pediatrician and we showed him the video. He told us he would like to send us to get an EEG ran and scheduled us for an appointment at 1pm that day. He told us that chances were the EEG would be normal. We headed to Children's Hospital that afternoon and watched as they hooked Marek up to all the wires. We were hopeful that everything would be fine. After the test was over the neurologist came in and sat down and said, "Well guys, I don't have good news." My heart dropped and I immediately started crying. I didn't even know what was wrong at that point but just how she said it and handed me a box of tissues hit my core. The neurologist said that his EEG was abnormal, specifically in the back part of Marek's brain. She was going to admit him to the hospital so she could run an MRI, a Lumbar Puncture (Spinal tap) and blood work. As they were disconnecting the wires from Marek he had another episode. It was actually a blessing because the neurologist was able to observe the type of seizure he was having. With that observation and the results from the EEG they gave us the diagnosis of Infantile Spasms.

That night seemed to last forever. Ryan and I read as much as we could about this very rare form of epilepsy. Only around 2000 children are diagnosed each year. Of course what we read was breaking our hearts. Infantile spasms could lead to developmental and cognitive problems from minor to severe brain damage. I don't think we slept for more than 20 minutes that night.

The next morning Marek went for his MRI and Lumbar Puncture. It was so sad watching him go through all this at such a young age. Both of us wanted to switch places with him. We both prayed for positive news to come from these test results.

Later that day, Friday, Janurary 9th the Neurologist came in to talk to us. He told us that the blood tests that had been completed were negative and his MRI scan was normal. We are still waiting for the results from his Spinal. We are hoping for it to be normal. If it comes back normal his infantile spasms will be considered cryptogenic which means there is no known cause for his seizures (which is actually a good thing believe it or not). He was put on anti-seizure medicine at a low dose and we are going to continue to increase his dosage until we can get the seizures to stop. If we can get them to stop and he responds to the drugs they are hopeful that with time and a little therapy he will catch up developmentally. We are by no means out of the woods yet but with all the normal results our spirits were lifted.

Our little peanut is strong and brave and we are praying with all our might that this medicine will work!!