Today’s post is long, but I hope it is helpful and makes a difference in someone’s life as I feel it is something that is often missed in children with Down syndrome. The majority of pediatricians follow the guidelines for health maintenance for children with Down syndrome. Seizures are listed as something to look out for, however us “smart doctors” think it is a hard diagnosis to miss. I mean who wouldn’t realize a child was having a seizure, right? Wrong.
I was not aware how common seizures were in children with Down syndrome prior to Noah being born (seizures occurs in 8-10% of children with Down syndrome) but we have come to know several families that are dealing with this diagnosis. It has broken my heart how long it has taken some of them to get a diagnosis hence the reason I knew this post needed to be written.
Infantile spasms (also known as West syndrome) is not a new diagnosis to me as I have dealt with it in residency as well as in my current practice. I think it is an easily missed diagnosis in children with Down syndrome as their development and sometimes other medical conditions skew the picture. However, if your doctor has it on their radar it can lead to a much earlier diagnosis. It was on my radar for Noah and he did some things that made me worry that brought us to a neurologist ourselves. (Be sure to watch today’s video located at the top of this post so you can just how scary Noah’s behavior looked.)
3 Symptoms Pediatricians Are Looking For In Order To Diagnose Your Child Infantile Spasms
Infantile spasms have three very specific symptoms for diagnosis.
- You have a brief spasm that looks like a contraction or arching of the torso with stiffening of the extremities. It is often described like a hiccup and that is about how long the spasm lasts. They usually come in clusters, and can appear painful and cause the child to cry.
- They are associated with developmental regression meaning that milestones that your child used to have are no longer there, such as not being able to crawl or sit up anymore. The child is usually less interactive and grumpy with this regression.
- An Electroencephalogram (EEG) shows brain waves called hypsarrythmia.
Sometimes What Looks Like Infantile Spasms, Isn’t.
Looks scary, huh?
Noah started having some strange movements most commonly after he was done eating, but also at other times. It had been going on for several weeks but was becoming more frequent. He would make a grimace and stiffen up his body. They only lasted a few seconds and he would go back to normal. He actually would find them humorous. It looked like a spasm to my eyes however Noah has never had developmental regression and continued to be very happy and engaged with us, which reassured me that this was not infantile spasms. That doesn’t mean that we didn’t want to verify that.
We took a video of the episodes and showed our awesome pediatrician. (Bonus tip: if your child is doing something weird always take a video as it will never happen in the doctor’s office). She agreed with me that they looked like a spasm, however he didn’t fit the requirements for infantile spasms like I mentioned above. She referred us to a neurologist and we were set up for an EEG just to be safe.
Off to the Neurologist we go.
I wanted to share our experience with taking Noah to the neurologist just in case you may ever find yourself their, you’ll know what to expect.
What’s An Electroencephalogram (EEG) Like?
The room where the EEG is preformed is actually pretty nice. It’s like a mini motel room. You’ll be able to hang out in the room with your child, cuddle with them, etc.
Waiting for the EGG.
The initial EEG is only 1 hour and you need to have one tired child on your hands. Seizures are most likely to occur in the transition to sleep especially when you are sleep deprived. We put Noah to sleep late, woke him up early and denied him his morning nap. Doesn’t that sound like fun?
I love this little boy.
Setting up for the EEG is the worst part, it involves a lot of electrodes placed on the head with gel, tape, and some gauze. Noah was not a fan, neither were his parents.Once we were done with that part, Noah was able to calm down and tolerate his new “hat”. None of this was painful, just annoying.
“I’d rather be watching cartoons!”
“This doesn’t look my bedroom!”
“Ummm…daddy; what’s on my head?”
The first few minutes of the EEG were spent trying to cause a seizure with lights flashing rapidly and then they wanted Noah to sleep, which was easy considering how tired he was. It felt like hours had passed before it was over. We watched TV, played on our phones, and watched our little man sleep. FInally it was over. The results were sent to our neurologist who we would follow up with that afternoon.
Noah and his dad cuddling during the EGG.
“It’s nice to have all of that gunk out of my hair!”
From The EEG To The Neurologist.
We were able to immediately meet with our neurologist after the EEG which may not be a common occurrence. He had read the EEG and the good news is that he did not show signs of hypsarrythmia or any other sign of seizure. Whew…that was a relief. Just of note: a normal 1 hour EEG does not mean that your child does not have seizures, especially if the events you are concerned about did not happen during that period. Hypsarrythmia is something that can be seen outside of the spasms and not just during a spasm so if it is not seen during your 1 hour EEG there is a good chance it is not present despite not having an event. If you are still concerned, keep pressing on for further evaluation.
I think the neurologist may have thought that we were really there to figure out how smart Noah was going to be, as he kept telling us over and over there is no way to predict how our kid would end up…thanks Dr. Neurologist that wasn’t why we were there, we were just a little worried that our son was having seizures. 
He stated that if the episodes got worse we should follow up. Usually the second EEG lasts 24 hours and is done in the hospital where your child is monitored the entire time and you click a button when your child has the events you are concerned about. He gave us reassurance that Noah was doing great plus some developmental information on how he was doing, and that ended our very long day.
“Time to go home!”
“Sometimes Kids Just Do Weird Stuff.”
Even though I really didn’t think Noah had infantile spasms, it was such a relief to be reassured. Noah continued to do these movements for a few months and they slowly decreased in frequency until they stopped. We have heard a few other people say that their child with Down syndrome started to do similar movement around 12 months of age and resolved after a few months without having developmental regression and if an EEG was done it was normal. So with that being said, even if after reading this you are now concerned that your child is making some strange movements the end result can be nothing to worry about. I don’t know why Noah did these movements, it could have been reflux, getting attention, or something he just figured out to do that was fun, who knows. In fact, my husband asked the neurologist why he thought Noah was making those strange moments with his body and eyes, and the neurologist said:
“Sometimes kids just do weird stuff. It’s normal, and there’s nothing to worry about.”
Thanks to Facebook we have been able to meet so many great people and heard so many stories. I would like to share the story of a child who really does have infantile spasms and their journey to his diagnosis.
An Infantile Spasm Diagnosis: William’s Story
“Hi, I’m William!”
William was found to have Down syndrome prior to being born. His parents did an awesome job at preparing as they spoke to other parents, they joined support groups, and they even had an appointment scheduled at the Down syndrome clinic in Boston prior to William even being born. They also knew of some things they needed to prepare for such as a possible ventricular septal defect (VSD) and duodenal atresia. William had surgery within 24 hours of being born and went home about 2 weeks later. He had some other things he dealt with such a severe reflux, and tracheomalacia. He ended up having a Nissen (when they take part of the stomach and wrap it around the esophagus to keep food in the stomach and not up in your nose) which seemed to really help him and he was doing great. This is their story in their words after these events. I added my own two cents in parenthesis 
3-7 Months
He got a little cold in August, and after that things just weren’t right. We kept treating him for ear infections. We weren’t sure if he had them since William’s ear canals are so small that the doctors couldn’t see in them. But we treated him for it anyway because he was congested and he was miserable. He started to gnaw at one or two of his thumbs in the sides of his mouth as if he was teething, which he wasn’t. His eyes also began to cross. He started to lose the ability to focus on anything. He was withdrawing. We weren’t sure if he could see.
Every once in awhile we noticed he’d have periods where it looked like his whole body was clenching. I thought perhaps he was retching. I remember telling the pediatrician he had this weird clenching thing he was doing, and wanted to know if it had to do with the Nissen. (Children with a Nissen can’t throw up but retch or go through the movements of throwing up without the end result)
Things really started to fall apart. He had been rolling, but he had stopped. He was very grumpy. He stopped smiling. He was just not responding to anyone. He had periods of absolute inconsolability. We thought it was his ears. He couldn’t hear anything. Wouldn’t even respond to loud noises. We kept on going to the doctors. We got answers like he was teething, or it’s his constipation, or it’s an ear infection. All of which may have been true.
We saw a local opthamologist with regard to his eyes. He said there was something wrong, but structurally he felt the eyes were fine. So, he sent us to Boston. They confirmed that other than having crossed eyes, structurally his eyes were fine. I was still concerned though about his inability to focus.
My friend sent me to see an otolaryngologist at Boston Children’s. Due to fluid in his ears, William had minimal eardrum movement out of one ear, and none out of the other. We were scheduled right away for tubes. After that surgery we were told that he did have conductive hearing loss, but that should go away. He began to hear things, respond to voices and startle with loud noises. But he still never visually focused on anything.
Throughout, William was still having these periods of clenching. The only way I can describe it was to say it was as if it were exaggerated hiccups. They were typically when he’d wake up from a nap. They’d last about 5 minutes (meaning clusters of these clenching episodes), and happen several times a day. He’d clench and then relax for about 20 seconds, whimpering in between.
9 Months: Diagnosis
William and his buddy!
Developmentally, William was regressing. He was still not sitting at 9 months. He lacked trunk control, and was wobbling and jerking. He was having trouble lifting his head during tummy time. He was almost completely withdrawn. After his ear surgery he began sucking on his thumb in the center of his mouth for as much as an hour or more, instead of one or two thumbs in the sides of his mouth for a couple of minutes. We weren’t sure if it was due to the Down Syndrome or something else. We were frustrated.
We finally had our first appointment with the Down Syndrome Clinic in Boston. I had taken a video in November, to try to ask whether he was retching from the Nissen. My husband mentioned we should show it at the Clinic (they knew my tip before I even said it), just one more time to see if they could confirm it was a result of the Nissen or not. (See how there are things going on that can confuse the picture of what really is going on)
We saw Dr. Emily Davidson at the Down Syndrome Clinic. We explained our concerns about William’s lack of development. We showed her the video. We told her about these clenching episodes that were happening a few times a day, usually when he wakes up. She knew instantly what it was. She picked up the phone and scheduled an EEG. She told us if it was what she thought it was, and she was pretty sure she was right, we’d be hospitalized for a few days. She told us that she thought William had something called Infantile Spasms, which is a kind of seizure. The video I showed her of William having a spasm was what she called a classic “Salaam†Seizure. She said it could explain a lot of the symptoms William was experiencing, including the lack of developmental progression. She said there were two types of treatments. One, ACTH, is very successful with Down Syndrome, would be the likely first line treatment.
We went to have the EEG, where all sorts of brain electrodes were “glued†onto William’s head to track his brain waves. The tech forewarned us that William was not going to like it. He was right. It wasn’t that it was painful. It just involved a lot of measuring, and putting cold glue on his head. He cried and cried. It worked though because he indicated they want to try to wear them out so they sleep. William slept and they tracked his brain waves. Then the tech woke him up. As if on cue, he had one of his spasms.
The neurologist came in and told us that Infantile Spasms had been confirmed. I cried. I was just so relieved we had an answer. We were admitted to Boston Children’s Hospital in the Neurology ward. William, still wearing his electrodes, was monitored for 24 hours in a special room with a camera. They were watching the hypsarrhythmia, or abnormal brain waves, which cause the Infantile Spasms. Whenever he had an episode of spasms, or a cluster, I had to press a button.
We were scheduled for an MRI. After consulting with the physician and Dr. Davidson, we opted NOT to have one. The reason for the MRI is to confirm some sort of brain abnormality or some other reason for the child to have Infantile Spasms. However, the correlation between Infantile Spasms and Down Syndrome is so strong, that typically when a baby comes to them without a Trisomy 21 diagnosis, the first question they ask is if they are they sure the child doesn’t have Down Syndrome. So, the probability of trying to find some other underlying disease causing the Infantile Spasms was highly improbable given we already knew that William has Down Syndrome. Collectively we decided the benefit of having the MRI was smaller than the risk of having William sedated. (I couldn’t agree more with this statement)
Treatment
Given the success of ACTH with children with Down Syndrome, that was the first line treatment that was decided upon. It’s expensive. Very expensive. $23,000.00 per vial expensive. Thank goodness the insurance company covered it. They shipped William 3 vials to our home.
ACTH is a daily steroid injection. I was informed that how it works is that it releases cortisol from the adrenal gland, which works to reverse the hypsarrhythmia, which causes the seizures.
The nurses at Boston Children’s taught me how to draw the medication up and how to inject William. We practiced with oranges and saline. Before we could leave the hospital, we had to show that we could give William the injections. They showed us how to test William’s stool for blood and his urine for glucose as the medication can cause gastrointestinal bleeding and elevation in blood glucose levels (which then end up in the urine) like diabetes. The medication can also cause elevated blood pressure, weight gain, and irritability.
We were lucky enough to have wonderful roommates at the hospital. Their little girl also had infantile spasms. They were EMT’s, so they had medical training. They gave us great advice, such as to make sure when we were discharged, that the nurses give us the doses in mL, and not units. They forewarned me about the increased hunger and irritability. Their little girl had reflux with ACTH, which is also common, which adds to the irritability. They told us about the Cushing Syndrome, which is puffiness in the face, which is a result of using a steroid. They offered a lot of great advice.
My very brave husband gave William his second injection of ACTH, and we were released from the hospital. We have the local VNA coming out twice a week to check his blood pressure, and we are going to see our pediatrician twice a week to check his blood pressure as well as review any issues we might be having. We also had to test his stools for blood and his urine for elevated blood sugar daily.
10 Months
At this point, we are done with the month-long treatment of ACTH. William’s seizures have decreased in number and severity, but have not gone away completely yet. However, he is also starting to progress developmentally. He’s starting to roll more, pick his head up, smile, and focus on people and things. He recently even giggled for the first time, and now is vocalizing for periods of time.
Today
William is doing great. We are thrilled with his progress since February. Stephen and I are very blessed to have such a supportive family and we have found some wonderful doctors and therapists who keep William progressing and us learning every day. We are especially blessed to be working with Dr. Davidson at Boston Children’s Down Syndrome Clinic. We truly believe she saved William with the infantile spasm diagnosis and she is a fantastic support and a wealth of information.
Also, William is going to be a big brother soon, how exciting is that?
Thanks to William’s mom and dad for sharing their story with our community. We hope you found their story helpful and encouraging And congrats to William on being a big brother. It sounds like he is going to be a great one!
Helpful Resources
The following are links about Infantile Spasms in children with Down Syndrome that William’s family found helpful. If you’re looking for some trusted information about infantile spasms, these links would be a great place to start.
- Infantile Spasms in Children with Down Syndrome | National Down Syndrome Congress
- Infantile Spasms (IS) – An FAQ | Tallforeheads
- Hospitals and Clinics of Minnesota’s ACTH information page
- Dec 4, 2012 there will be a seminar on Infantile Spams done by the clinic that William attends for those who are interested, you will be able to watch it after the date as well.
Tips For Concerned Parents
After reading this if you are at all concerned please head to your primary care physician and ask for an EEG. Developmental regression is a very concerning symptom. Yes you can regress TEMPORARILY when new siblings are born, there are changes at home, or a child is sick. It shouldnever be a long lasting condition with more and more milestones lost. This is a huge red flag and needs to be investigated by your doctor. You also know your child best and if you think something is going on, push for answers. I can’t tell you how many times I have listened to a parent despite thinking everything was ok only to find out there really was something going on.
The only person who will advocate for your child is you, so keep pushing if you are concerned.
In the end it will be worth it as either you will get reassurance or finally get the diagnosis you have been looking for.
Are there any other parents out there who have dealt with infantile spasms? How long did it take to get diagnosed? How is your child doing now?
Hi Rick & family,
Thanks for posting on Infantile Spasms. This is a very informative and thorough post and will help many families. I have a related question that I have not been able to find any information on and I am hesitant to see our family doctor about.
Our daughter, Catie, is going to be 9 in a few weeks. She is a beautiful, generally healthy little girl with Ds, but my husband and I have been observing an interesting phenomenon in her nightime sleep. She has incredible “twitches” – full on body spasms that last for a second or two and can be incredibly thrashy in her sleep, leading to (we think) interrupted sleep. It is very rare for her to sleep through a full night. I’ve heard plenty of anecdotes about thrashy sleep and weird sleep positions for children with Ds, but have never heard friends or others talk about massive muscle spasms, I put it down to the kind of muscle spasms most of us have as we fall asleep, but these happen in the middle of the night and might happen in a cluster, then stop.
Any thoughts? I know this is pretty vague…sorry.
Thanks for any input you might have.
Hi cecile, my daughter is 6 years old and does the same thing. Sometimes the jerking causes her to thrash around a lot and other times the muscle jerks are like a minor waking moment. I thought it might be from prilosec at first causing low magnesium levels, but she checked out ok, just at the low end of the normal iron range. I’ve read it can be caused from iron, magnesium or calcium deficiency. But I’m still looking for answers also.
Thanks for the info, will definitely share it with our network. Noah tolerated those flashing lights pretty well, I think it would have drove me crazy.
My son Gabe recently turned 8. He has Down syndrome and also had infantile spasms when he was younger. I had a normal pregnancy and when he was born a nurse whispered to another nurse on the side that she thought Gabe had Ds. The dr. and I discussed it later and decided not to run the test bc it wouldn’t make a difference to us. He didn’t have any apparent health problems so we go to go home and love on our baby boy. When he was 4 months old he stopped breathing in the night 2x. We were admitted into the hospital for testing and ended up with a diagnosis of acid reflux. The medicine seemed to make him spit up more than usual and we weren’t convinced that was his problem. While he was in the hospital one of the test they ran was for Ds. So at 4 months old we got the diagnosis of Down syndrome. While it seemed like our world was shattered at the time, it didn’t change how we felt about our little guy. At 6 months old, we got his regular shots and in the parking lot I noticed something strange with his eyes. I wasn’t sure what was going on but I kept an eye on him. A few days later it happened again, but this time his arms and legs jerked a little at the same time. From that point on it started happening more and more. I talked to the dr and they said it was probably nothing, but at that point I knew something was wrong. I video taped it happening and went back to the dr. They then scheduled us to see a neurologist and the appt was a couple months away. They tried giving him different sedative medicines but they didn’t help. He was having 15-20 seizures a day that lasted a minute up to 20 minutes. They happened when he’d fall asleep or as he was waking up which is frequently for a baby. During this time Gabe regressed backed to infancy. All he would do would lay there and suck his thumb. He would no longer roll over, drink from a sippy cup, smile, babble…none of the things he had done before. We were heartbroken. After finally seeing the neurologist and having an EEG, it was confirmed that Gabe was having infantile spasms. He was prescribed the highest dosage of Depakote. After a month and half his seizures had almost stopped. He had one more a few months later and after that he has been seizure free. Thank you for posting this informative article! We had no idea to be on the lookout for seizures. Thanks to Gabe I’ve found a career that I love working as a therapist for our state’s 0-3 program. I can’t imagine life without him!
Thanks to Noah we found this article about infantile spasms and Williams story. We are in the first weeks of ACTH injections and have obvious concerns about the medicine and its effectiveness. This gives us hope which I believe is what parents of children with Down Syndrome (for that matter anything) really need and want.
Thanks again Rick for everything!
Hi, I’m the happy mother of yani, 11 months. We used to live in Morocco with my husband which is half english, half moroccan. I decided to come to Quebec city where i’m from to have my baby, many months before the birth. Yani was diagnosed then with a heart defect which led to a diagnosed of Down syndrome (around 25 weeks of pregnancy). At that point, we decided to move to Montreal to make sure our little Yani would have the best care possible and we would have all the guidance and support we may need. The first months of his life, Yani wasn’t really active, he was sleeping a lot and wasn’t feeding really well. After the surgery (3 months old) he was improving really quickly, growing really fast and putting on weight like a champion. His motor skills were much better as well… until we noticed some changes. He was more irritable, tired, he wasn’t really happy to play and work on his exercises anymore. At 7 months we notice one night that after feeding he would fall asleep for 5-10 minutes and then he would wake up having spams (a strech of his upper body in a cross shape and the flexion of his legs upon his chest. It was happening every 30 secondes for 10 minutes. It was just weird and we didn’t think much of it first. The day after, it happened again. We rush to the ER and the doctor had no idea what it was. After taking a video of the spams, we met a pediatric neurologist who immediatly recognised the spams confirming the diagnosis after the EEG. She said it was just the beginning and that Yani’s case was really mild. She said that often parents wait to long before consulting and it is much more difficult to treat. Yani started the medication (sabril twice a day) and had in total no more than 5 or 6 seizure. Now his doctor is please because there is no more epileptic activity but we are going to take the sabril until next year just to be sure. He now really good at sitting by himself, feeding himself, grabbing toys and going around backward on his play on his tummy (still working on crawling and standing up by himself although he is standing with support). He is also starting to really talk to us even if he doesn’t form words yet. A lot of improvment after the open heart surgery and the infantile spams… From my experience, it is important to consult a doctor when you have a doubt and really trust your instinct when it comes to your child health because if I didn’t insist on investigating, Yani’s condition could be much worse by now. I have the video of the seizure if someone if interested to see it, not sure how to post it. Here is a picture of Yani when we went apple picking 2 weeks ago.
Our son, Mason, was diagnosed with IS a little over 3 weeks ago. By the grace of God, we happened to watch a video of a child that was having spasms on a Facebook posting. My wife asked me if I had ever seen Mason do anything like that, to which I replied no. I really hadn’t ever seen him do anything like what we were seeing on the video. The very next evening as I was lying next to my boy he starting having the telltale spasms right as he was waking up from a nap. Had I not seen the video the night before, I would have just thought it was a little weird. They are so subtle!
We called our pediatrician immediately, and was told it was probably nothing but to go ahead and take him to the ER to have them check him out. Sure enough, it was IS. We had a great Pediatric Neurologist at Vanderbilt Children’s Hospital that put Mason on a combined dose of Topamax and Prednisolone. We were a little concerned at first, because the drugs really knocked him out and he just seemed out of it for the first two weeks.
Two weeks after starting on the meds, we took him back for a follow up EEG and it showed no signs of spasms or hypsarrythmia! While we were still worried that the drugs were going to keep him in a zombie-like state, he began to come out of it and is now smiling at us and interacting with us more than he ever has!
We had another EEG yesterday, and things are still looking great. We were a little concerned because he had begun doing some weird things like smiling really big while rolling his eyes back. He actually did it while hooked up to the EEG, and our neurologist was able to confirm it wasn’t a spasm or seizure. It was just chalked up to “weird things kids do”.
I know it’s a huge task, but the possibility of our kids having Infantile Spasms really needs to get out there. While we hate to constantly be looking for things that may or may not be issues, parents need to be educated about this potentially devastating condition that affects 10% of our children. If caught early, the outcome is MUCH better than if left untreated.
our son was just dx on 9/11/14 9 months old. He was placed on Sabril for a little over a week, the switched to pregnisolone just recently this Tuesday. He had some spasms yesterday and today. But it has not been a week on pregnisolone yet and doc want to switch him to ATCH if he has another set of spasms. My question is that even though I appreciate the diligence of our doctors, are they giving the meds a chance to work?? He also has down syndrome. please advise. Did your child respond and have not spams within a week on meds???
Just a little pointer that there appeared to be no warning about the stobe lighting on the video. Can cause seizures a bit ironic considering the subject matter. Article fab though.
We were interested in this post because our 15 month old son, who has DS, was diagnosed with IS 3 weeks ago. We would love to hear an update on William. Do his parents blog elsewhere or would you share my contact info with them?
Kathleen
Hello Rick, Noah and family,
Derek has had infantile spasms since he was about 6 months old. He would wake up from his morning nap making very similar facial expressions as Noah did but he would pull his legs up and his arms would flare out. This would hold for a few seconds and then he was aware of me being there and then he would immediately do it again. In total it would last anywhere from a minute to two minutes each time. They were the most horrifyingly scary things I have ever seen in my life! I have older children and then I had Derek. His father worked out of town so I was alone while this was happening. I called his dad and said I think Derek is having seizures and I need you to come home so we can go to yhe doctors and figure it out. We went to the doctor at the opening of the office and they talked to us and tried to calm us and they asked if we could please record it the next time it happened! We went to run a few errands and as we were in our local Sam’s Club he woke up from his nap and they started. So we recorded at and went right back to the doctors. The called a Neurologist and he was on Medicine the same day! So then we drove three hours to a Children’s Hospital and had an EEG and they confirmed it and by that same October we were seizure free with Meds. He has had multiple blood tests and EEG to keep everything in order and we are hopeful he will be one of the little ones who out grow this disorder and will eventually live seizure free! Thank you for the blog. And all I can say to other parents is trust your gut because it will tell you if things are wrong!
Thanks for posting. Our son also has DS and had IS. It was the scariest time of our lives as most babies are profoundly adversely affected. It was good to have a hope that kids w DS pick up where they left off after the seizures are stopped (and I would add when the ACTH is done) and take off again. He had the spasms for 1 month before our wonderful nurse at the Down Sundrome clinic in Denver saw them on a video I shot and recognized them. We had been to gastro and they thought it was reflux. He stopped having seizures after just 3 shots and has been seizure free since – it’s been 2 years now. We praise God for his grace and mercy and faithfulness to us during that time. He is doing fantastic developmentally too. He’s our little superstar.
Jonathan also does those same movements Noah does, and he still does it. We call it his flying. He loves it. Funny to see another kiddo doing it too.
Thank you for posting this story to get the word out. Heartbreaking to hear how long William had them before someone figured it out.
We went through something similar with our son, infantile spasms and ACTH therapy. Two years later everything is running smoothly.
our son was just dx on 9/11/14 9 months old. He was placed on Sabril for a little over a week, the switched to pregnisolone just recently this Tuesday. He had some spasms yesterday and today. But it has not been a week on pregnisolone yet and doc want to switch him to ATCH if he has another set of spasms. My question is that even though I appreciate the diligence of our doctors, are they giving the meds a chance to work?? He also has down syndrome. please advise. Did your child respond and have not spams within a week on meds???
Hi Aria. I have recently heard that ACTH is the best med for IS in down syndrome kids. The longer the IS goes on, the more damage to the brain. Switch to ACTH asap. It is scary, but well worth it. Our son’s spasms stopped after just 3 shots (1.5 days) and never returned. He was required to stay on for 1 month as that’s their standard protocol, but returned to acting like himself after the weaning off. Expect your child to regress some while on it, but they will “pop” right back to where they were before the IS when it’s over. Weight gain and puffyness too, but it goes away. Praying for you. This is a really hard time.
Lezlie
Hi! This is William’s mom, Amy. William started with ACTH treatment, but he had it for several months. I know that ACTH is a lot to take in, but I’d say if your son’s neurologist is recommending it, that may be a good idea. Perhaps get a second opinion. Given the consequence of delay– developmental regression — I’d not delay too long. Let me know if you have any questions!
Thank you Lizzy. I wanted to contact you been so busy. Pregnant again. Please email me. We have an appointment for Mri Friday. I have been torn about keeping it. I hate sedation. It was made 2 months in advance towards end of treatment with Atch. Doc just wants to confirm IS associated with Down Syndrome only. His last eeg was great per doc no hypsarrthmia. My little one Chao is 1 now. He is doing better. I see some head nods but to me it is more him experimenting with getting head control. He working hard to sit up alone…can’t mri perhaps wait…I hate to cancel then miss something ugh…please help
..thanks!!!
Also head nods not all the time.,…I see during tummy time..lol I call his name he smiles then stops
Hi Amy, I said Hi Lizzy…lol I was so tired. I would appreciate when you have time a response to my new message regarding MRI. Thank you for everything!!
Just wanted to thank you for posting this…it probably saved my son’s life, and by that I mean his future quality of life. For 2 months I had been trying to figure out why my mellow, happy baby all of a sudden became a different baby…cranky all the time, waking up every 2 hours at night crying when he had been almost sleeping through the night, what I would call inconsolable but not to the point of being pain, just very, very uncomfortable. 4 days before Christmas at 3 am on a Sunday morning, after 2 months of this unexplained personality shift, I somehow came across this post and read William’s story. It exactly described what my son had been like, down to the sticking both thumbs in his mouth and chewing, losing milestones (I thought he just didn’t want to smile or roll over anymore because he was feeling bad) and also described all the things I thought it could be that I took him to the doctor to check…ears, reflux, etc. I never for a moment thought he was having a type of seizure..I noticed what I thought was a delayed startle reflex, but I had never heard of IS. A few hours after reading this my son woke up and started the spasms…this time I videoed it, and it was almost exactly like the video you posted. I called his ped immediately and he was dubious, despite being one of the most respected pediatricians in our area, he had never heard of the DS association and assured me IS was very rare. He agreed to see him that day and I showed him the video and although he wasn’t convinced he did refer us to a neurologist along with prescribing reflux meds. Long story short, if I hadn’t come across this post, it would have gone on for months, because no one was looking for it. Its been 4 weeks since his official diagnosis…we did prednisone and are now on Sabril, and yesterday for the first time in 3 months, we saw our little boy’s smile again. I can’t even tell you, as parents, how beautiful it is to have our little boy back, and to see him happy again. Here he is yesterday smiling and rolling over again. Thank you, thank you, thank you for taking the time to write about this. PS If anyone is dealing with this diagnosis, there is a fb page called Infantile Spasms Community Discussion Group which was a wealth of support and info from other parents.
My son is 5 months old and was born with HIE or lack of oxygen to his brain, so we see a neurologist and are on preventative seizure meds. ( keppra, phenobarbital). he has been very irritable lately and started doing a shiver, like an adult would if they were cold, with his head. arms and legs stay in but might be tight. Are there different forms of IS or do they all look like your video? because our neurologists thinks he might have IS. However he does it at most 5 times a day, but most often twice a day. He doesn’t have the big eyes or the open arms or the pulling up of the legs.
These experiences ring true to me.. My baby daughter (11 months) has DS and has just been formally diagnosed with West Syndrome. She had stopped smiling, constantly sucks her thumb and is passive in her environment.
Early last December we noticed that she was losing head control when feeding, and sometimes nearly impaled her eyes on the feeding spoon. I got my wife to video these episodes, and then spent an evening systematically comparing the recording with internet postings of lots of conditions. Eventually I came across one of West Syndrome and was sure I had found a match. I immediately e-mailed the paediatrician with an “URGENT” label, and told him I was sure Rebecca had West Syndrome.
The consultant looked at the video and said it was nothing to worry about – she wasn’t doing badly enough to have West Syndrome, and it was more likely to be benign, I wish I had gone immediately to neurology and demanded a second opinion, but we took him at his word. After all, he was the expert, he dealt with loads of children. I had only “O” level biology.
Once home, I began to have doubts. I called my local GP and said I had a video she needed to see, and that my daughter had West Syndrome. The GP had never heard of it, but she agreed the video was odd, and referred us to neurology.
The consultant still thought Rebecca had only reflux, but 6 weeks later, the EEG confirmed my diagnosis and she was put on medicine right away. I just pray that that delay hasn’t damaged her life chances.
I think the moral of the tale is that it’s easy to miss the diagnosis. Get a video and a second opinion,….
Robert
Good for you for following up…our pediatrician, who is very experienced, was not convinced by my video either, but the neurologist saw it and agreed right away. We started treatment and 3 weeks later we say our boy’s smile come back. Good luck…it can be a tough road but you will get your daughter back…if you need support I recommend the fb group “infantile spasms community discussion group”
My daughter ( now 11) has IS as a baby-10 years ago.
I had to push and advocate and work hard to get her diagnosed and treated. Pediatrician thought it was ” nothing”. The first neurologist that diagnosed her ( hypsrythmia-EEG) would not treat aggresivly because he thought she was too fragile. She had not yet had her heart defects repaired and weighed only 10 pds. at 8 mos.
We consulted with Detroit Children’s, who were ready to treat immediately – but ultimately helped us find a qualified Neurologist here in MN.
The wonderful Dr Beverly Wical at Gillette Childrens Hospital in St Paul was the one who prescribed ACTH and Carolyn’s treatment. It was a long road for us all, but she did recover and is doing so well today. At that time her case was studied and published as to using ACTH in kiddos with Down Syndrome – and how effective it was – and began to be considered as a recommended treatment because it proved to be so effective. I’m glad that IS seems to be getting more recognition and treatment now! That is great news, and will improve every child’s potential outcome.
I have a question for William’s mom-how is he doing now?