What is "Infantile Spasms"?

Disclaimer: I am not a doctor and I do not have any medical training. In this post I am going to discuss my own understanding of and experience with Infantile Spasms, but I am by no means an expert. Quite the opposite, I am learning more about this condition every day. I implore you to do your research. If you are concerned that your child has IS, or is having seizures, contact your pediatrician, or go to the ER, right away. Don’t wait. This is a serious medical condition that needs immediate diagnosis and treatment for the best prognosis.

Infantile Spasms

The first thing you should know about Infantile Spasms is that it is extremely rare. There are only about 2,500 new cases in the US each year. This seems like a lot when you are worrying about your child . . . until you consider that there are 318.9 million people in the US and there were about 3.9 million babies born in the US in 2014. That means, IS affects only approximately .06% of US babies born each year.

IS is form of epilepsy that affects children in the first year of life. The onset is typically between 4 and 8 months and outcomes vary widely. There are a lot of factors that play into the prognosis for a child with IS. The biggest factor is what underlying condition is causing it and how severe is that condition? If the cause can be determined, that’s called “symptomatic” IS. If one cannot be determined, this is called “cryptogenic” IS (this doesn’t mean that there isn’t a cause--there almost always is--it just means the cause can’t be found).

So far, Baby J.’s case is cryptogenic. We have not been able to determine what has caused her spasms (though we are still waiting on some test results). There was concern that Optic Nerve Hypoplasia (small optic nerves) may be the cause. J. has had impaired vision, as far as we can tell, since birth. However, we have seen two pediatric ophthalmologists, and they’ve both said that, from the front, her optic nerves look normal. J. had an MRI while in the hospital which would have showed any damage or defect of the back of the optic nerve, but it came out clean.

The MRI did not show any other abnormalities of the brain, either. So far, genetic and metabolic blood tests have not given us any answers. Our neurologist has told us that as long as J. responds to the seizure medication, there won’t be cause to look deeper. Subsequent and more specific tests could be ordered, but they are expensive and, as long as J.’s condition appears to be improving, they are unnecessary.

IS can be caused by a plethora of conditions. Perhaps the most concerning are defects of the brain, such as a tumor, encephalopathy, hypoplasia, traumatic brain injury or prolonged lack of oxygen to the brain (such as a near miss SIDS episode). There are also many genetic and metabolic diseases that can cause IS. The reason the prognosis for a child with symptomatic IS is not as positive, is because the condition itself will also require treatment and may carry its own undesirable prognosis.

In a child with cryptogenic IS, only the seizures need to (and can) be treated. Once the seizures are under control, the child can begin receiving therapy for any resulting delays.

A diagnosis of cryptogenic IS does not preserve the child from the possibility of developing other kinds of epilepsy or autism, or learning disabilities later in life. The damage has been done and the stage set, but these conditions, as I understand it, are less likely outcomes, if only slightly.

What to look for

The second thing you should know about IS is what to look for. IS spasms typically occur when a child is waking up, or getting sleepy. J. had hers when she got up in the morning and before bed at night and sometimes in the middle of the day.

The spasms are small, abnormal movements that happen in succession. J.’s spasms always looked the same, but varied in severity. The more severe, the more upset she would become between spasms, during an episode (or “spell”). Her shoulders would shrug, her arms would come forward as though someone were pulling her hands, she would point her toes and, for the duration of each spasm, her eyes would glass over. Each spell or series of spasms would last anywhere from 5-10 minutes (though they may go on longer) and each spasm was 1-5 seconds, 15-20 second apart. It is heart-wrenching to watch your baby go through this, even more so if they are also becoming upset.
There is nothing that you can do to stop a spasm when it’s happening, but it’s more than okay to hold and comfort you baby. They need you.
The spasms present in many different ways. As hard as they are to watch, I recommend looking for some videos others have posted of their babies having spasms and compare to what you have seen in your own child. This really helped us to conclude that we needed to see our pediatrician immediately. I have thought long and hard about posting a video of J. going through a spasm, because I know it would help so many, but I have opted out, out of respect for her privacy. I feel that this blog tells enough of the story.

On that note, I highly, highly recommend that you record your child the first few times they have an episode (the more examples you have the better). All of your doctors will appreciate seeing this, because they may not have the opportunity to witness an episode in person. All of our doctors were impressed and grateful that we (by which I mean T.) had the wherewithal to record J.’s spasms.

J. usually fell asleep after an episode. The worse the spasms, the longer and more deeply she would sleep. She had a particularly severe episode on the way to the hospital and slept right through having the EEG leads attached, which took about 45 minutes.

How IS is diagnosed

IS is diagnosed by an electroencephalogram (EEG). This is an EKG for the brain. A number of leads are glued to the head (over the hair) and are connected to wires which are connected to a computer. The monitor shows a series of a lines. In a child with normal brain activity, these lines will have consistent peaks and valleys that don’t cross. Unfortunately, in J.’s case, a problem was immediately apparent. Her EEG was chaotic. The lines had high peaks and deep valleys that changed every few seconds and crossed over each other in multiple places. This sort of brain activity is called hypsarrythmia and is, as it was explained to us, the inside-the-brain version of the spasms J. was having.

It was very clear to us, looking at the storm going on in her brain, why J. was falling behind in her development, why she was crabby all of the time, why her eyes and brain can’t communicate. I have no idea what it feels like to have that much disorganized activity in going on in your brain, but I can’t imagine it feels good.

While J. was hooked up to the EEG, she was also being monitored by camera, so that when the EEG showed she was having an episode, the doctors could see what she was doing at the time. J. was hooked up to hers from Friday evening until Monday morning (when the leads had to be removed for her MRI), but the typical time is 48 hours. Once finished, the leads are removed with a solution that dissolves the glue (so it doesn’t rip out the hair--I was really worried about this). You’ll need to wash your baby’s hair immediately after, so the solution doesn’t get on their hands and into their mouth or eyes.

After the diagnosis

ACTH is the first treatment doctors go to for IS, unless they already know the underlying cause. If a condition is identified, your doctor may opt to treat that first, as IS is symptom of that problem. In J.’s case, as I mentioned before, a reason for the IS has not yet been found so we are treating the IS itself. I will talk more about the medication in another post, but if your child is started on treatment while still on the EEG do not expect to see a difference in the readout. J. remained hooked up to the EEG for over 24 hours after the medication was started, and while her spasms seemed immediately reduced, the EEG remained unchanged. It takes several days, and possibly a couple of weeks, for that much improvement to be evident. (Also, you can’t expect to see an immediate response, as we did with J., concerning the actual spasms once on the medication, either--every child is different. The neuro team told us not to expect her seizures to be affected for 6-7 days. It did take 6 days for J.’s seizures to stop completely, but we saw a noticeable decrease in the number and severity of her seizures right away.)

During our stay in the hospital, we were visited by a team of neurologists every morning who would check in on J. and talk about any new concerns, or discoveries in her case. We were visited several times a day by J.’s nurses (who, at NYP, were just incredible and so so supportive!). The nurse would take vitals and help us administer J.’s medications (we had to be taught to give her an injection).

Depending on the hospital you are staying at, and how long you are there, you may also be visited by a Child Life Specialist. A CLS’s main job is to support children who are undergoing surgery or a difficult diagnosis, but they are also there to help you, as a parent, cope with having your child in the hospital.

We were also visited by a Care Coordinator, whose job it was to collect all the information we would need to continue caring for J. upon our release and put us in touch with an Early Intervention program. We were visited by a Social Worker, who wrote us letters explaining our absences from work for our employers. And we were visited by the visiting nurse coordinator who set us up with a nurse to come to our house and monitor J.’s blood pressure, blood sugar levels and her weight (all of which can be adversely affected by the ACTH).

Once the medications are obtained, you will be discharged from the hospital and sent home. This, by the way, may be when it will really hit you that your life will never be the same, so prepare yourself for that. Giving the medications to your child at home is quite different from giving them in the hospital. It’s much harder, emotionally, the first few times.
If you are living in the state of New York (as we do) you will be automatically eligible for Early Intervention services which are provided to you at no cost through the government--you just need a referral from your doctor. If you do not live in New York, ask your doctor what kind of services, if any, are available to you. If your state or local government do not provide these services, find out from your insurance company what kinds of therapies are covered.
And take a deep breath. IS is a hard diagnosis to hear, but your baby needs you to be strong. This is not to say that you shouldn’t break down, or call on friends and family for support. You probably will break down and you need all the support you can get, but don’t let this consume you. The worst part of this diagnosis is the uncertainty of the prognosis, so take everything one day at time.

This where I would like to invite you to e-mail me if you have any questions, or if you need someone who has been there to talk to. I will reiterate that I am not an expert, but I am happy to help in any way that I can. You are not alone.