Wednesday, August 6, 2008

An Infantile Spasms story

I found this on another blog of a family with a child with IS. The article is from Parenting magazine.

This is a scary story, a cautionary tale.
It's the kind of story that, a year ago, I would have turned away from because, after all, what did a story about a sick baby have to do with me?
When Zach was born, he was perfect. His Apgars were 9.9. He was 7 pounds, 4 ounces and 21 inches long. He had fine blond hair and those murky blue infant eyes that look like the bottom of the ocean. He breastfed easily, and he grew. He did all the things he was supposed to do, at all the right times. He smiled at 7 weeks. Rolled over at 12.
When we visited Zach's pediatrician for his once-a-month well-baby visit, her favorite word, when asked any question, was normal. She'd say it in a singsong voice. It became a joke between my husband and me. Normal, normal, normal, David and I would sing as we left her office.
I can pinpoint the day we stopped singing normal so happily: It was a weekend afternoon in early fall. We were sitting at the kitchen table, interviewing a babysitter, and I had Zach, then 6 months old, in my arms. Suddenly he flung his arms up, and his eyes rolled back slightly. It looked like something I had read about in the baby books, the "Moro reflex" common in many infants, except that he repeated the gesture a half-dozen times. Something rumbled in my gut. I called the pediatrician the next day.
"He did something strange," I said, describing the incident.
Normal, she said. Absolutely normal. She sounded rushed. But when I got off the phone, I felt relieved. That was exactly what I'd wanted to hear. She was a top-notch pediatrician, a graduate of one of the best medical schools in the country. She was affiliated with one of the top hospitals in our city and had a burgeoning practice. If she wasn't worried about what I had described to her, why should I be?
But the little gestures continued. Not every few hours, not even every day, but once in a while. The jerk of the arms upward. The slight roll of the eyes. And although I didn't notice it at the time, Zach was slowing down a bit. He had stopped rolling over as much, and he seemed nowhere near ready to sit up by himself. But these are not the kinds of things that necessarily worry you as a parent. They happen slowly, incrementally. You think, My baby is tired. He's mastered that skill, so he's not doing it anymore. He's a chubby baby -- maybe that's why he isn't sitting up.
A week went by. I had a sick feeling whenever I thought about the expression on Zach's face when these incidents would happen. I called the doctor again. This time, when she called me back and heard that I was again reporting the same thing, her voice developed an edge, so slight that I thought I might be imagining it.
"I'm really not worried about this," she said. "Look. If he's still doing it when he's eight months, we'll check into it."
The incidents became more frequent. Every day now. In the morning, on the changing table, he would fling his arms up 10, 20 times. David and I talked about it often. We tried to figure it out. Maybe it was a delayed Moro reflex. It seemed to happen when he was tired. Babies have immature nervous systems, we'd say. We comforted ourselves and attempted to think of answers.
And then one morning, on the changing table, it happened more intensely than ever before, and I shouted to David to grab the video camera. He ran and got it and began to film Zach as his arms raised themselves in a jerky motion and his eyes fluttered backward. I called the doctor, my heart pounding. I made up an excuse because I believed she wouldn't make time to see us for this thing I had already called her about twice in the past two weeks, something that she -- without examining our baby or asking a single question -- had already dismissed. I said that I wanted to bring Zach in because he was running a fever and had a cough. She couldn't very well say no to that.
We walked into the doctor's office armed with our camcorder. She was young, with a frenzied manner; each time we had seen her since Zach's birth, she had walked into the office and quickly glanced down at the open chart to see who we were and what our baby's name was. There was no sense of memory or connection. I had noticed this but had attributed it to managed care and a busy practice.
"What's this?" she asked, eyeing the camcorder and our baby.
"We've videotaped those gestures," I said, my voice shaking. I wasn't even sure whether she remembered what I was talking about. "I want you to see it for yourself."
David turned on the camera, and he and the doctor squinted at the digital film of our baby on the small screen attached.
"That's what you mean?" she asked, pointing. "I really think that's nothing."
Something in me snapped. Now I should say here that I am not a particularly forceful person. I tend to apologize for being in the way if someone pushes past me on the street. I am shy and soft-spoken. I blush easily and have been known to stammer. But at that moment, I stood up in the doctor's office and said, "I'm not leaving here until you call a neurologist. I want Zach to be seen by a neurologist. Today."
To this day I don't know what possessed me. I suppose it was a kind of mother's instinct. I'm not sure I had ever believed in it before, that old adage that mothers simply know.
"I'll see what I can do," she said with a sigh. I suppose it was the videotape that did it. In this age of malpractice paranoia, she couldn't afford to take the chance that something was in fact wrong, because now we were armed with proof. So David and I waited in her office for a half hour. The whole time, he held me and I wept. It was as if I already knew that something awful was happening.
We were given an appointment with a pediatric neurologist for that afternoon. There's nothing like a hysterical mother in a pediatrician's waiting room to make things happen. She wanted to get rid of me -- and fast. We had a few hours to kill, so we walked to Gymboree and bought Zach some onesies, socks, and a fleece outfit for the winter. A week before, I had been a normal mother of a normal child who would shop for infant clothes or take my baby to the playground with the sense that all was right with the world. But now I found myself in a fog. Socks seemed poignant. The onesies made me want to cry. I started bargaining with God. Please, let it be nothing. Let there be some logical explanation, I silently pleaded.
The moment I saw the pediatric neurologist -- a man in his 50s with salt-and-pepper hair and thick glasses -- poke his head around the corner and motion us into his office, I knew we were in good hands. "Let's take a look at him," he said, laying Zach down on the examining table. And whenever in my life, whatever moment in the future I wonder whether there's a God, I will think back to this: Zach, who had been having these episodes once or twice a day, had an episode right there on the neurologist's table. I watched the doctor's kind face, his eyes, and whatever glimmer of hope I'd held on to that this would be nothing faded away.
"We're going to do an EEG this evening," he said, calling in his nurse, arranging for a technician to come into the office after-hours.
There is a transparent veil that separates the healthy from the sick, the good life from the one that goes suddenly and terribly wrong. In any given second, that veil can open up and swallow you. Of course, most of us never think about this, because if we did, we wouldn't get out of bed. My little family and I went through that veil, like Alice through the looking glass, on that brisk fall evening.
After Zach was taken in for his EEG, a long time went by before the doctor called us back into his office. He wasn't smiling. He pulled his chair around to the front of his desk so that he was sitting near us.
"Well, we've got our answer. And it isn't the one we'd hoped for," he said. And then he gave us the diagnosis: infantile spasms (I.S.). Something we'd never heard of, a rare seizure disorder that affects about seven out of a million babies. The statistics were impossible to comprehend. When you find yourself on the wrong side of a statistic like that, the whole world does a spin around the moon. Gravity shifts.
"What does this mean?" asked David. I was holding Zach. His hair was greasy from the goo they use to conduct the electricity for the EEG. He was sleeping, and he looked peaceful.
"We don't know," answered the doctor. "We know very little about this condition."
"What's the worst-case scenario?" asked David.
"Brain damage," said the doctor.
David's face seemed to disintegrate, caving in with terror and grief.
The doctor immediately turned to treatment options. There were basically two: His first choice was Vigabatrin, a drug that had not been approved by the FDA, even though it showed quite a bit of success in stopping the seizures. The doctor recommended Vigabatrin as the first line of attack because the only other option, a steroid given by injection three times a day, was a far worse choice. He described it to us as sheer hell for the parents.
Before we even knew what was happening, his nurse was on the phone to a pharmacy in Canada, which would send us the drug by Federal Express within a couple of days. In the meantime, the nurse had also called another family in our city who had a child on Vigabatrin. The parents agreed to lend us some, and we said we'd drive by to pick it up in an hour. We pulled up to their building, one I had passed a hundred times before, and David took the elevator up to their floor, where a woman met him at the door with an envelope containing a week's worth of the drug.
That night, Zach started taking the Vigabatrin, which was a powder we sprinkled on his food. Within two days, his seizures were almost entirely gone. Within a week, they had ceased completely.
We went online and tried to find out everything we could about infantile spasms. There have been few studies on I.S., none in this country. The most comprehensive studies were in Finland and Norway. The information was bleak.
Nearly all babies with I.S. are diagnosed between 6 months and a year. The condition itself is finite -- it goes away as suddenly as it came, provided that there's no underlying cause. But the seizures themselves cause grave problems presumably because the resulting electrical activity damages the developing infant brain. The stories I read on the web were of babies who weren't walking or talking by age 2. Who were blind or deaf. Almost all were mentally impaired. Ninety percent of infants with I.S. suffer some sort of developmental damage, ranging from mild retardation to a complete physical breakdown.
Every night I sat at the computer, willing the Internet to give me different, more hopeful information. I could not find one single story of a complete recovery. The most I could find out was that early diagnosis -- along with a quick response to the medication -- is the best indicator of recovery. The sooner the disorder is caught, the more likely the seizures will not have accrued to the point where they're injuring the brain.
A few days into this, it occurred to me that Zach's pediatrician had never called. No phone call to see how he was doing. No phone call of commiseration, just simply to say that she was thinking of us. This was a doctor who had examined him on the day he was born and who had seen him probably ten times since then. And she just simply vanished. I suppose she was afraid we might be angry with her. I suppose she was afraid we would sue.
As I write this, it's six months later, Zach has just turned 1, and I am a believer in miracles. Zach has been seizure-free since going on the Vigabatrin. He is crawling, pulling up, cruising, and saying "Dada" and "Mama"; he's a smiling, perfect handful of a baby boy. He is still on the medicine, which we give him five times a day, but he will be weaned off it slowly, starting soon.
His neurologist has called this a "save." He believes that Zach is going to be one of the rare lucky ones. All underlying causes have been ruled out. Zach has had an MRI and a huge amount of blood work done. There is simply nothing wrong with him. We will never know why he got infantile spasms. There are theories ranging from the DPT vaccination to pesticides to something congenital. The truth is, nobody knows.
There are a lot of factors that have to do with Zach's recovery -- and even as I think "recovery," I catch my breath. It will probably be years before I am truly able to rejoin the world of "normal mothers." Will I ever sit on a park bench next to other mothers, watching our children play in the sandbox, and feel that I am one of them? I don't know. I certainly hope so. But there will probably always be a part of me that will shiver over Zach.
He was responsive to the medicine, which was a piece of luck. And apparently we caught it early. But when I think of those two weeks when I was calling his pediatrician and listening to her dismiss my concerns -- clearly she thought I was a hysterical mother, that all mothers are hysterical mothers -- I am filled with rage. On the one hand, this is a rare condition, and it's understandable that she would have deemed it unlikely that a baby in her practice would have I.S. After all, the odds are about seven in a million.
But on the other hand, Zach's symptoms -- slightly slowed development, the seizures themselves at precisely the right age for the onset -- should never have been dismissed. And she dismissed them. With a wave of the hand, she nearly relegated my son to a life of pain and profound difficulty. If I saw her on the street, I don't know what I would do.
So I am doing what I can by telling my story. Trust your instincts. If you believe something is wrong with your child, get it checked out. Don't be polite. Make a fuss. Do whatever you need to do to be heard. Doctors do not like to make referrals. It isn't good for their standing with their HMOs. I can only put it this plainly: If I had listened to my doctor, if I had waited until Zach was 8 months old before looking deeper into his condition, he most likely would be braindamaged. This beautiful, curious, intelligent little boy would have had his life forever compromised.
I was raised to be a good girl, to be polite and accommodating, especially to authority figures like doctors. But of all the things I have ever done in my life, the thing of which I am most proud is standing in the middle of that doctor's waiting room with tears streaming down my face, demanding that my baby be seen by a specialist. I may have looked like a lunatic. I may have appeared to be hysterical. But on that day, I saved my baby's life.
Paula Michaels is a pseudonym. The writer is a novelist and an essayist.

A save, a happy ending. An ending I wish could be the same for Emily. Yet at almost one year old, 7 months after the spasms first started, she is still having several clusters of spasms per day. Her neurologists tried ACTH (the steroid injections - "hell for parents", very true) as the first line drug. It worked and then they came back. We tried again and then we had to stop using it because of another medical issue cropping up. We tried two other drugs and only a slight decrease spasms and still abnormal EEGS. And then Vigabatrin which we started on July 10th. After 2 days, the spasms stopped. I held my breath, I didn't tell hardly anyone. Could they be gone? And then 17 days later, they came back. Heartbreaking. There are not many treatment options left.

Now Emily has symptomatic IS, different from the boy in the story, meaning she had developmental issues before the onset of spasms. She was only four months old, but she was not making alot of eye contact, not smiling much, not handling toys. This is the more difficult variation to treat. And the prognosis, well, they can't (or won't) say specifically, but it is grim. At our last neuro appointment, I pretty much got the news I had been expecting. The head attending doctor, head of the epilepsy program, said that if we can't get her EEG normalized, she will never develop past where she is now. And that is the part that is so hard to accept. Emily functions at a newborn level, and that may be as far as she can go. Devastating. And even harder to accept when Carter and Brenna are trying to walk, eating table foods, starting to talk, and doing all the things we so wish Emily could do too. After all, she is part of the trio, and yet she is kept apart. Carter and Brenna smile when they see her, but going about their daily business, they ignore her. She can't respond back to them. We have to keep her physically separated from them too, because they don't understand they can't grab her eyes or climb on her chest. Do they feel like twins? I wish it could be different, I wish I could fix it all.

And then I read this:

from the MUMS newletter (a group for parents of children with chromosome disorders)

I asked God . . .

I asked God to take away my pain.

God said, No.

It is not for me to take away, but for you to give it up.

I asked God to make my handicapped child whole.

God said, No.

Her spirit is whole, her body is only temporary.

I aksed God to grant me patience.

God said, No.

Patience is a by-product of tribulations, it isn't granted, it is earned.

I asked God to give me happiness.

God said, No.

I give you blessings, happiness is up to you.

I asked God to spare me pain.

God said, No.

Suffering draws you apart from worldy cares and brings you closer to me.

I asked God to make my spirit grow.

God said, No.

You must grow on your own, but I will prune you to make you fruitful.

I asked for all things that I might enjoy life.

God said, No.

I will give you life so that you may enjoy all things.

I asked God to help me Love others, as much as he loves me.

God said, . . . . Ahhh, finally you have the idea.

Author unknown

And I try to stay faithful and believe that there is a plan and a reason for all this. But it is hard and some days it is harder to accept than others.


huffmantriplets said...

Geoff and Aimee,

As a parent of triplet daughters, I know the day to day stresses of life. However, I can not imagine what you are going through. If ever one of you need to vent or have someone not directly associated to you to listen, I am here.

Take care and Hugz,

Scott H. (Tripletdad7)
Daddy to Alexa, Emily, and Madison
Owner of Dads_of_triplets_club - Yahoo group.

Heather said...

Hugs Aimee, and know you have always had my prayers and you still do. I appreciate you letting us into your heart and your mommy-worries and letting us share your life.
I'm always here if you need me!

Reagan Leigh said...

It's just so tough. Living the other side of the story...the not so happy ending. I too was hoping that my daughter would be one of the ones that was quickly healed on the first drug she 8 drugs and the ketogenic diet later...we're still where we were at the very beginning! Her development hasn't progressed much since then and her spasms have gotten far worse! It's SO frustrating, I know. But we have to believe...we have to have faith...our girls ARE going to get better. It's not a matter of if, but a matter of when (in due time). You just can't give up. Stay strong for her (and for your other babies). Keep trying new medications, new treatments. SOMETHING will work for just have to find it. Sending extra prayers your way today...

KRISTA said...

Aimee--thinking of you! Whatever you do, don't stop writing. You are helping others out there by telling your story. I love the poem--that is a gift. Sending lots of hugs your way!

ggollihur said...

I think it is important, although not mentioned, that Aimee and I also were not comfortable with the reflux diagnosis that the Emergency room doctor gave. Even though the pediatrician agreed with the diagnosis, we also demanded an expedited appointment with a specialist. When that specialist did not think it was reflux and suggested we follow up with a referral to a neurologist through our pediatrician, Aimee dropped everything, and drove to CHOP, possibly the best children's hospital in the nation. Although our results are not the same as the author's, we did much of the same, as Aimee's motherly instinct is practically a superpower(among her other abilities, she'd make a good Parent's Magazine Superhero!).

I sometimes wonder why we must endure this challenge and I remember that Aimee and I were blessed with these children because we have so much love to share. No matter how difficult it gets, we wouldn't have it any other way.

Adam & Andrew said...

You are a beautiful writer and mother. My eyes were overflowing as I read this post. emily has a special place in your family and her siblings will be better people because of her. I wish there was a magic pill to heal her, never give up hope but even if her doctor is right she is and always will be your beautiful baby. Hugs, lynz

Erin said...

As one of my closest friends for the last 14 years, we have shared some memorable times. We have laughed like I have never laughed before! And I always look forward to spending time with you and talking to you on the phone. I'm sure Gee cringes when he sees my number on your caller ID because he knows that I will have his wife's ear for an undeterminable amount of time! But through our years of friendship, we have also shared our tears. And I want you to know that I am here for you; to listen when you just want someone to listen. And when you have a day when you feel like you just can't take it anymore, you have my number. I truly cherish our friendship and I want to be the support for you that you have been for me all of these years! I love you!

Shanna Grimes said...

As a mother of three, all with different special needs, I can understand how difficult it can be to swallow that such a beautiful child may never be neurotypical. Emily is beautiful girl and I pray that she will one day be seizure free and able to see and experience the world as her brothers and sister do.

You are an amazing and strong mother to have gone through all you have gone through over the last year. Keep the faith and stay strong.


JSmith5780 said...

Not sure if you got this off my site or someone else's. I'll be honest, even though I just posted it the yesterday, I forgot where I got it :)

Anyway, I also have a child that had IS. He seized for 8 months. He was 16 months when they started and he reverted to a baby. He also has a brain lesion and a genetic mutation. THAT SAID, he has now been free if IS for 4 years. It has been 4 hard years of therapy, BUT he will be starting 1st grade in a few weeks.. a little behind his peers developmentally, but willing and eager to learn.

Don't ever give up.
mom to Austin (nearly 6, IS free), Ben (4.5) and Connor (4.5, PDD-NOS)

Anonymous said...

Aimee, Geoff, Drew, Emily, Brenna and Carter,

I love you all and you are in my prayers everyday. I ask God that he will wrap his arms around Emily and help her become all that she can be.

Hugs and Kisses to All

Love, Mom and Dad

Rachel said...

Aimee - I can't even imagine how hard it must be to see your child suffer and not respond to the drugs. Thank you for sharing your heart and I think you truly are a great mama! I know Emily is blessed to be in your family!

Beth said...

Aimee - I have the biggest lump in my throat right now. I just cannot imagine how hard this is for you -- how hard it is to see Carter and Brenna continue to thrive as Emily remains essentially frozen in time. You are so, so strong and I admire yours and Geoff's strength. I know you will continue to have faith that this is not the final diagnosis...

You are always in my prayers. Stay strong -- I know you will. You know you can always vent to us and rely on us for support. Hugs!


Raegan said...

Hey there, my name is taegan edwards and i come from new zealand. i have a little guirl and her name is tamzyn, she is just about 2 years old now, and we have had a very similar beginning to life with our little one as you had with yours. everything seemed to be fine with tamzyn up till about 4 months old, and we noticed that she started to go backwards. We noticed her doing these little jumps, and we mentioned it to our gp, he reassured us that it was normal for babies to do that, and not to worry, so we stopped worrying. But then the jumps seemed to happen more often, and tamzyn had stopped doing the things she should have been doing at her age, such as reaching for toys and looking and focusing at things, so i knew that there was something wrong, we soon get help for tamzyn in all sorts of areas, as they said that tamzyn just had slow development, and needed help. We were told that we may never know what is wrong with her, and time will tell what her future would hold, but i was not happy with that. So after a year of listening to what all the different therapists theories were, i decided to do my own research. I found infantile spasms suited my little girl to a tee, so i rang the paeditrician and he asked to do an eeg straight away. sure, anything to help my little girl. after the thousands of tests and also an mri, we were told that she did not have IS, she just had some form of epilepsy, so we put her on sodium valproate, 6 months later, the seizures were slowly calming down, but were still happening, and her development had stoppped, so i demanded to be seen by a higher authority, which in nz is starhsip hospital. we went there, and by my surprise, we were told that tamzyn has IS. i was devastated, we had lost 6 months in treatment, because the doctors just simply did not listen. We tried tamzyn on some steroids but that did not seem to work, she is now on vigabatrin and the seizures seemed to have stopped, but she is just about 2 and her development is really far behind, as she is still not sitting up. Most of her therapists have lost hope in her, and they think that this is what she will be like for the rest of her life, but how can you put faith in higher authorities, when they get things wrong!! I believe, that if i keep researching , i will be able to fight this, i will never give up hope! so thankyou again for writing your story, it i good to know that i am not the only paranoid parent out there, all the best for the future. Raegan NZ

Holly Rickman said...

Thank you so much for the story and the poem. I never even realized how much emmotion I still hold over our delayed diagnosis until reading the pain in yours and feeling it anew. I noticed her spasm at around 4 1/2 mos and it was not until I found an article on the internet, emailed the neuro, and told him what it was did I get the ball rolling. We were dismissed by her ped, her neuro initially and I screamed silently all the while. His resident even called her initial EEG normal. Even though the initial read said that they could not discern between a sucking artifact and a seizure. I then asked the attending to say for "certainty" if it was and he wouldn't. I would never sue a soul but had to "play the game" to the attention my child deserved. We had a delayed diagnosis of 7 mos. She was crytogenic, and her seizures stopped w/out even going to full dosage. How could her prognosis have been then if we were listened to? We have started a nonprofit that educates parents/communities. It is I wish I could say this teaching hospital has made revisions to improve itself. After all a simple DVD can be the diagnostic tool. I can only put my pain into a more positive outlet for others and pray. She has made many strides but we have no idea where she will end up. We are prepared for all and lover her regardless. Again, this was very cathartic for me. God bless.

Target said...


I read your story and can completely identify with you. My son has IS and I am at such a lost.
He was diagnose at 6 months, and he is going on 3 and still does not walk, nor talk. He rolls around on the floor and gets around which is a blessing/curse at the same time...he blows raspberries, and works with an OT, Speech and PT. It has not been easy and he is getting heavy to carry around. Its only me and my husband and our daughter, which she is a delight, because she helpful and cares for her brother a lot. I just glad there is somebody out here who has my story, I wish my son was a fortunate as yours...but, he is just like Emily. I do my best to stay strong, but I have moments of weakness and uncertainity.

Thanks again for your story.

SGT Anderson said...

My wife and I have a similar story and it is a relief and tragedy before us. Our son just turned 5 months. He was as normal and perfect as they come and then he started the hunching over. He was immediately put on keppra and the seizures stopped. His MRI was normal but he was showing abnormalities on the left side of his brain in the EEG but the results were still not typical of Hypsarrithmia which is typical for IS. The doc suggested we double the dosage of keppra to try to eliminate the abnormalities but it only brought the seizures back. They last a couple of mins but they are almost every 3 hrs during or after a nap. The doctors gave him an ACTH injection 2 hrs ago and he still had a seizure right on schedule. We are so worried of the worst case scenario but are holding onto the hope that it is Cryptogenic because his grandpa has a mild form Of epilepsy. We really need some reassurance that what we are experiencing will go away and we caught it early. Please God. Matthew and Jahaira in Augusta,Ga.