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In December of 2009, when James was about 4 months old, James started doing this weird thing where he would throw his arms above his head and his head would kind of twitch from right to left. At the time we weren’t sure if these were caused by reflux or if this was a new type of seizure. We were able to catch some of them on video so we would be able to show the doctors exactly what James was doing. This is one of the videos that Stacy took and I should warn you that you may find it a little hard to watch.
Mid-January 2010, about a month after we first started noticing this new “quirk”, James was in the hospital with some gastrointestinal (GI) issues. He had some yellow stuff coming out of his g-tube and the pediatrician thought it would be best to have him admitted to the hospital to have some tests done to find out what was going on. After showing the GI (gastrointestinal) doctor one of the videos we took, she thought they looked like a classic case of reflux so she put him on an anti-reflux medicine. That didn’t seem to help. He continued to have these “spasms”.
In early February 0f 2010 we took James to see his neurologist. After showing him the video, he thought they looked like infantile spasms and wanted to treat them as such until we get a confirmation through an EEG. An EEG, or electroencephalogram, is a test that is used to diagnose epilepsy and other brain disorders. James had an EEG nine days later and it was confirmed that he was having infantile spasms.
The neurologist wanted to start James on ACTH shots as soon as possible to treat the infantile spasms and sent the prescription over to our pharmacy. When Stacy went to pick up the prescription, the pharmacy said that our insurance wasn’t going to cover it because it was too expensive. Stacy asked the pharmacist how expensive it was thinking that maybe we could just pay for it out of pocket. “$74,000”. That is not a typo. $74,000 was the cost of an 8-week round of this drug to treat infantile spasms. Well, we definitely couldn’t pay for that out of our pockets, so what choices do we have?
Stacy called our insurance company to find out what we could do to get these approved. The lady that Stacy spoke with made some calls to doctors and pharmacies on our behalf. Five days later we got a call from a pharmacy that we had never heard of, Curascript, to let us know that the ACTH shots were approved, and our cost would be $35.00. Again, that is not a typo. How does a $74,000 prescription get denied by our insurance at one pharmacy and the same prescription get approved at another pharmacy and cost us only $35.00?! I don’t know and we really didn’t care. After speaking with the neurologist and doing our own research, we knew we had to get James started on these shots as soon as possible for the best possible outcome.
Update: As of 2018, the price of ACTH has increased to $125,000 in the United States. That is an almost 70% increase in 9 years! According to an article posted on Epilepsy Ontario, the cost of this same drug in Canada was $17,000 in 2015. Yes, ACTH costs 7 times more in the U.S. than it does in Canada!
So what are infantile spasms, and why the rush to start treatment? Throughout the rest of this article, I will answer these questions and many other common questions that are asked about infantile spasms.
Since this is a fairly long post, to make it easier to navigate, I have made the following list of questions clickable. If there is a particular question you are curious about, click on it to be taken directly to the answer to that question. Then you can simply hit the back button in your browser to be brought back to the list of questions. Or, you could just read (or skim) the entire article from top to bottom. The choice is yours.
What are infantile spasms?
How common are infantile spasms?
What do infantile spasms look like?
What causes infantile spasms?
Are infantile spasms genetic?
How can I tell if my child is having infantile spasms?
What should I do if I suspect my child is having infantile spasms?
How are infantile spasms diagnosed?
What treatments are available for infantile spasms?
What is the outlook for children with infantile spasms?
Where can I get more information on infantile spasms?
What are infantile spasms?
Johns Hopkins All Children’s Hospital provides a simple definition of what infantile spasms are. “Infantile spasms (IS) is a seizure disorder in babies. The seizures (or spasms) make muscles in the arms and legs stiff and bend the baby’s head forward. They look very much like a startle. Babies also might have slowed development or loss of skills (like babbling, sitting, or crawling). Although the spasms usually go away by the time a child is 4 years old, many babies with IS will have other kinds of epilepsy later in life.”
Children’s Hospital of Pittsburgh gives us a more detailed description:
“Infantile spasms (IS), also called West Syndrome, is a rare type of epilepsy in children.
“This syndrome is considered an epileptic encephalopathy or severe brain disorder.
“Without early treatment, IS can cause problems with your child’s:
-
- Cognition
- Learning
- Development
“The seizures with this type of epilepsy (called “spasms”) look like quick body jerks, sometimes with head drops or extended arms.
“These seizures are brief, but they can occur in clusters.
“At first, many parents think these spasms may be colic, reflux, or “sleep jerks” until they become more severe or frequent.
“These seizures begin in infancy, around four to six months of age. They can occur in children both with and without known brain injuries or other health problems.
“With IS, you may notice your child is:
-
- Smiling less
- Less interactive and engaged in their environment
- More irritable
- Unhappy
- Inconsolable
“Doctors often confirm the diagnosis of infantile spasms with an electroencephalogram (EEG) test. An EEG shows a specific type of abnormal chaotic brainwave pattern called hypsarrhythmia.”
Children’s Hospital of Pittsburgh mentioned that “many parents think these spasms may be colic, reflux, or “sleep jerks””. Doctors often make this mistake, too. If you recall in the beginning of this article, when James started having these spasms, the first doctor we took him to was his GI (gastrointestinal) doctor. She thought they were caused by reflux. We learned early on with James that it is usually a good idea to get a second opinion. That is why we saw his neurologist next. He thought they were infantile spasms and scheduled an EEG to confirm the diagnosis.
Also notice how Children’s Hospital of Pittsburgh says that “without early treatment, IS can cause problems with your child’s cognition, learning, and development.” This is why there was such a rush to get the prescription and get James started on it ASAP.
How common are infantile spasms?
According to the National Organization for Rare Disorders (NORD), “West syndrome* is a rare neurological syndrome that can affect males and females. The X-linked form of West syndrome affects males more often than females. West syndrome has been estimated to affect .31 per 1000 live births in the United States. West syndrome accounts for approximately 30 percent of all cases of epilepsy affecting infants.”
*In case you didn’t read the answer to the previous question, West Syndrome is another name for infantile spasms.
Epilepsy Action in the UK gives us slightly different numbers: “West syndrome happens in about one in 2,500-3,000 children. This means that about 350-400 children will develop West syndrome in the UK each year.”
What do infantile spasms look like?
In the answer to the previous question, Children’s Hospital of Pittsburgh states that “the seizures with this type of epilepsy (called “spasms”) look like quick body jerks, sometimes with head drops or extended arms.”
Child Neurology Foundation says that “the seizures often look like a sudden bending forward of the body with stiffening of the arms and legs lasting for 1-2 seconds; some children arch their backs as they extend their arms and legs.” I think this is a better description of what James was doing. When we tried to describe what James would do during a spasm, we told people that it looked like he was doing ab crunches and his head would come flying forward.
To actually see what infantile spasms look like, there are several videos on this Child Neurology Foundation page.
What causes infantile spasms?
Johns Hopkins says that “infantile spasms (also called West syndrome) can be caused by brain malformations, infections, brain injury, or abnormal blood vessels in the brain. IS also can happen in babies with certain metabolic and genetic disorders. In rare cases, a baby’s infantile spasms are caused by vitamin B6 deficiency. Sometimes, the cause isn’t known. However, more and more gene mutations are being linked to infantile spasms.”
Children’s Hospital of Pittsburgh tell us that “doctors associate more than 200 different health conditions as possible causes of IS. Some infants may have had a brain injury, such as a stroke or meningitis. Others may have been born with a genetic mutation or have problems with brain development. Certain medical and genetic conditions, like Down syndrome, increase the risk of having infantile spasms. In 20 to 30 percent of children with this type of epilepsy, doctors can’t find a cause.”
James’ infantile spasms and epilepsy were caused by the stroke he suffered before he was born.
Are infantile spasms genetic?
In some cases, yes, infantile spasms can be genetic. As was mentioned in the previous question, Children’s Hospital of Pittsburgh says that “some infants may have been born with a genetic mutation or have problems with brain development. Certain medical and genetic conditions, like Down syndrome, increase the risk of having infantile spasms.
How can I tell if my child is having infantile spasms?
There are various symptoms or signs that your child may be having infantile spasms. He or she may:
- Raise their arms over their head or stick their arms straight out to the side.
- Stiffen their legs or “tuck them into the belly,” as if having stomach pain.
- Suddenly bend at the waist.
- Drop or bob their heads briefly.
- Roll their eyes back suddenly with subtle head nodding.
- Lose their balance while sitting up, with their arms in the air.
If you want to see videos of what infantile spasms look like, click here to be taken to the Child Neurology Foundation’s Infantile Spasms Awareness page.
What should I do if I suspect my child is having infantile spasms?
As noted earlier in this article, Children’s Hospital of Pittsburgh said that “without early treatment, IS can cause problems with your child’s cognition, learning, and development.” They also say that “if you think your child may have this type of spasm, getting a diagnosis and treatment is vital.”
So if you have even the slightest suspicion that your child may have infantile spasms, get him or her in to see a neurologist as soon as possible. If they are not already seeing a neurologist, talk with your child’s pediatrician or primary care doctor and ask if they can recommend a neurologist. If possible, take a video of the suspected infantile spasms to show to the neurologist and/or pediatrician.
How are infantile spasms diagnosed?
A pediatric neurologist will want to go over the child’s medical history and have an EEG performed in order to diagnose infantile spasms. Although James’ neurologist was fairly certain that he was having infantile spasms in the video that we showed him, he wanted an EEG to confirm it.
In addition to an EEG, the neurologist may want to run other tests to find the cause of the infantile spasms. These tests may include:
- Blood or urine tests to look for infections or other illnesses
- VEEG (Video EEG) – same as an EEG, but with the addition of video recording
- CAT scan
- PET scan
- MRI
What treatments are available for infantile spasms?
The usual anti-seizure medications are rarely effective in treating infantile spasms, but other treatment options are available to treat them. As I mentioned in the beginning of this article, James’ neurologist wanted to get him started on ACTH as soon as possible after he confirmed that James was havingj infantile spasms. ACTH is probably the most popular, effective, and expensive of the treatments available for IS. Here I will give a brief synopsis of what ACTH is as well as a few of the other treatments available.
Medications
- ACTH (adrenocorticotropic hormone): a form of hormonal therapy. It is injected into a muscle in the leg every day. This was probably the hardest part for us because we were the ones that had to give him the shot every day for 8 weeks. When we first started the ACTH treatment, we had to spend 1 day in the hospital so that we could learn how to administer the medication and to make sure that James didn’t have any adverse side effects to ACTH.
As I mentioned at the beginning of this article, ACTH is VERY expensive. It was $74,000 in 2010, and the price has gone up quite a bit since then. Our insurance company declined payment to our normal pharmacy, but after Stacy talked with the insurance company, they were able to find it and pay for it at a specialty pharmacy. So don’t freak out if your insurance denies it. Talk with them and see if they will approve it through another pharmacy.
Unfortunately, ACTH did not work for James. The neurologist increased the dosage a couple of times throughout the course of the treatment to see if that would reduce his infantile spasms, but follow up EEGs did not show any progress. Before we finished ACTH we started to discuss what the next options were. We were planning on trying Vigabatrin (see below) right after James finished ACTH, but after reading through the warnings, we decided to try other anti-seizure meds first.
- Vigabatrin: an anti-seizure medication that has been shown to be effective in treating infantile spasms that are caused by tuberous sclerosis complex (TSC). Vigabatrin comes as tablets or a powder that can be mixed into a solution and swallowed. It is given twice a day.
After James finished an 8-week round of ACTH without any noticeable reduction in infantile spasms, we decided to try different anti-seizure meds before we started Vigabatrin. Sabril, the brand name version of Vigabatrin has this warning on their website:
“An important side effect you need to know is that Sabril can permanently damage the vision of anyone who takes it. People taking Sabril are at risk for vision loss with any amount of Sabril. The risk of vision loss may be higher the more Sabril is taken daily and the longer you take it. This side effect has occurred in 3 of 10 or more of patients taking Sabril. If vision loss occurs, it will not get better. The most noticeable loss is in your ability to see to the side when you look straight ahead (peripheral vision). People who take Sabril do not lose all of their vision, but some people can have severe loss particularly to their peripheral vision. With severe vision loss you may only be able to see things straight in front of you (sometimes called “tunnel vision”). You may also have blurry vision.”
James already had an optic never that didn’t fully develop so his vision was already compromised. And with all of his other disabilities and medical issues, we didn’t want to risk adding blindness to the list.
After 5 months of trying different anti-seizure meds without success, we made the decision to try Vigabatrin. Because of his previous vision issues, James already had an eye doctor that he was seeing regularly. We had an appointment with the eye doctor prior to starting Sabril to get a baseline. We went back to see the eye doctor about a month after starting Sabril and the doctor said that his eyes look the same. Phew! What a relief!
James had a video EEG prior to starting Sabril and another VEEG about 4 weeks into the treatment. After reviewing comparing the two EEGs, the neurologist was happy to report that the second one looked so much better than the first. He wasn’t sure if it was the Sabril or it was James’ brain fixing itself, but we didn’t care. We noticed a major decrease in the infantile spasms, and so did the EEG. We decided to start to wean him off the Sabril and return our focus to his other seizure disorder.
I should note that James experience may not be typical and just because Sabril worked for James does not necessarily mean it will work for your child. ACTH did not work for James, but might work for your child. Everybody reacts differently to medications. It’s kind of a crap shoot.
As with all medications, each of the above treatments for IS has a risk of side effects. Your child’s neurologist will be able to discuss these possible side effects with you, discuss the pros and cons of each option, and discuss any new medicines that may be available. Also, do some of your own research and talk with the neurologist about any questions or concerns you may have.
Surgery
If an EEG shows that the infantile spasms are coming from a particular part of the brain, your neurologist may discuss surgery as an option. The Epilepsy Foundation states that “epilepsy surgery should be considered early in a select group of children who have a focal area (specific location in the brain) leading to the spasms. This includes some children with tuberous sclerosis complex or malformations of the brain. In these children, there are often focal features to the spasms, such as head or eye turning to one side. EEGs are less likely to have a typical hypsarrhythmia pattern and may show more focal discharges.”
Ketogenic Diet
You may have heard of the ketogenic diet (or keto diet) being used by adults for weight loss. The keto diet is a high-fat, low-carb diet that has also been shown to be effective in controlling seizures and infantile spasms.
Johns Hopkins All Children’s Hospital says that “children with seizures that are not well-controlled by medicines (called intractable epilepsy) and severe epilepsy syndromes (such as infantile spasms or Lennox-Gastaut syndrome) might benefit from a ketogenic diet.”
The Epilepsy Foundation also mentions that “the ketogenic diet has been reported to be safe, well tolerated and possibly effective for treating children with infantile spasms who do not respond to ACTH or steroid and vigabatrin.”
As with other treatments, there are some risks and side effects with the ketogenic diet including constipation, dehydration, high cholesterol, kidney stones, slowed growth, and weak bones.
We did not use the ketogenic diet because James’ IS were brought under control through the use of Vigabatrin (Sabril). We did, however, try to the keto diet about 6 months after James stopped taking Sabril to try to bring his seizures under control. He was on the keto diet for about 5 months and unfortunately it did not help with his seizures. He ended up losing a lot of weight to the point that he looked “sickly” as Stacy puts it. We took him off the keto diet and started trying different combinations of anti-seizure medications to try and bring his seizures under control. As I mentioned in the medications section above, not all children react the same way to treatments. Just because keto didn’t work for James doesn’t necessarily mean it will not work for your child.
What is the outlook for children with infantile spasms?
The outlook for a child with infantile spasms varies from kid to kid and depends on a lot of factors. The Child Neurology Foundation puts it this way: “The prognosis for children with IS is largely dependent on the underlying cause. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. Children who have rapid initiation of treatment, normal development prior to infantile spasms, and no identifiable cause may do well. IS usually resolves by mid-childhood, but more than half of the children with IS will develop other types of seizures such as Lennox-Gastaut syndrome, an epileptic disorder of later childhood. In addition, children with IS are at a higher risk for autism. Shorter duration between the onset of IS and initiation of standard treatment appears to lead to an improved outcome; therefore early recognition of the seizures and early treatment are essential.”
HealthyChildren.org says something similar: “Even if the infantile spasms stop, many children develop other kinds of epilepsy and have intellectual and/or other developmental disabilities later in life. If the treatment is prompt and successful, the outlook is brighter. Normal development is possible for those who were developing normally before the spasms started.”
Where can I get more information on infantile spasms?
There is a wealth of information available on the Internet about infantile spasms. I have included all of the resources that I referenced throughout this article in the list below. I have also included some additional resources that have good information about IS. While it is good to do your own research, don’t forget to seek out a neurologist. He or she is the only one that can officially diagnose infantile spasms and prescribe treatments.
Children’s Hospital of Pittsburgh
Children’s Hospital of Orange County (CHOC)
Citizens United for Research in Epilepsy (CURE)