Infantile Spasms

This little guy hasn’t smiled for 2 months!

In March he picked up a small cold which led to a double ear infection. Ear infections are very common in children who have Down Syndrome because their ear canals tend to run smaller than normal. Not soon after the infection, he started having clusters of “spasms” which would cause him to bear down and fling his arms out as if he were falling. These clusters of spasms would last for about 2-3 minutes and would occur between 4 to 10 times a day.  We assumed these “spasms” were a result of his equilibrium being thrown off due to the amount of fluid in his ears.  Two weeks after we had tubes put in his ears we met with the doctor, the fluid had drained and his tubes looked good.  At this point, Wil was continuing to have spasms and the ENT had no idea what was causing it. Nikki and I became very concerned, Wil was not responding to any emotional stimulation and was not showing any of the standard emotions he had revealed in his first 5 months. We could tickle him or talk to him and it was as if he was staring right through you.  He wasn’t cooing or babbling anymore.  He stopped playing with his toys, and feet.  He seemed to be regressing in all of the progress he had made up to this point.  We had now determined this loss of emotion and spasm sessions were not a result of his ear infections and decided to reach out to a National Down Syndrome group on Facebook. Within an hour a mom from Michigan commented that her son had experienced the same pattern of spasms and emotional shutdown. Her pediatrician pointed her to a neurologist and her son was diagnosed with Infantile Spasms (IS).  Nikki and I began to search the internet for as much information as we could on Infantile Spasms. IS is a form of Epilepsy in which the GABA transmission process in the central nervous system becomes interrupted.  After reading more about it we knew that Wil was suffering from the same thing. The next morning we had our pediatrician squeeze us in, he set up an appointment with a neurologist at Primary Children’s Hospital, and by 2 p.m. that day we were in the hospital having Wil prepped for an EEG test.

An electroencephalogram (EEG) is a test that detects electrical activity in your brain using small, flat metal discs (electrodes) attached to your scalp.  Your brain cells communicate via electrical impulses and are active all the time, even when you’re asleep.  This activity shows up as wavy lines on an EEG recording.  An EEG is one of the main diagnostic tests for epilepsy.  The diagnosis of infantile spasms is made with a typical EEG.  The EEG shows a very high-voltage, disorganized pattern called “hypsarrhythmia”.  Wil’s EEG took about 20 minutes while he slept in Nikki’s arms.  The neurologist met with us shortly after the test and confirmed that Wil has IS. I was relieved to know that we were moving in the right direction but I was heartbroken to know that Wil had been suffering from seizures for 2 months.  Apparently IS is common in infants with Down Syndrome and they usually respond well to a high dose of steroids which usually eliminates the seizures in a couple of weeks.  Apparently one of the side effects of this steroid is weight gain, Wil is already well on his way to becoming a body double for a sumo wrestler so to hear that he would gain more weight made me laugh.

The doctor wanted to do an MRI the next morning to make sure that there was not something structurally wrong with Wil’s brain. He was fairly confident they wouldn’t find anything abnormal but wanted to confirm that the IS was only linked to his extra chromosome. Nikki and I felt good about having them do an MRI, we had actually read an article before coming to the hospital of a family who had brought their son in for IS and an MRI revealed that he had a tumor.

Sleeping in the hospital that night was interesting, we shared the fold-out couch in Wils room which was smaller than a twin bed (thankfully the next night we were able to use the Ronald McDonald house).

The next morning poor Wil was not happy. He had his last meal at 1:45 a.m. and then could not eat until after his MRI. His MRI was scheduled at 11am but it ended up being 2pm before the nurse called us to come down. While we were waiting I was holding Wil and had a nice moment where he and I looked at each other for about 2o minutes. I would give anything to know what he was thinking but I’m sure it had something to do with food and the lack thereof. Leaving Wil for the MRI was especially hard for Nikki. Only one of us could go with him while they sedated and prepped him, so Nikki went and it tore at her heart as she left him on the table before they started.  The MRI came back fine and after a couple of hours, we were on our way home.

Looking back, it was pretty amazing how everything moved so quickly, we were especially relieved to now have answers regarding his spasms.  Wil’s seizures have decreased over the last couple of weeks and we have started to see the light come back into his eyes. A couple of days ago we got some brief smiles and a lot more playfulness out of him.  Both Nikki and I are optimistic that I will be able to post a picture of William smiling again very soon.
Below is a video of Wil having his spasms.

UPDATE: 

We are happy to report that Wil is smiling again! After a week of being on a prescription of Prednisolone and ranitidine for the steroid gastritis, he started laughing and smiling again. It was if someone had flipped a switch when it happened. We were at a family BBQ and I was talking to Wil when all of a sudden he started to smile! I yelled for Nikki all of our family gathered around us. As I continued to talk to him he smiled and it was as if a dark cloud was removed from our family. The best part was when I started tickling his neck to get him to laugh – it was an amazing sound – so much joy (video from that night below).  All of his emotion returned and you could immediately tell that he was aware of everything that was happening around him.  He remained on the prescription until it was out and he did not have another spasm from that point on.

When the doctor gave us the prescription he mentioned that it may cause Wil to gain a little weight and boy did he ever. He turned into a chunky monkey for about two months.

I hope that this blog post can help others who have recently noticed that their child is having infantile spasms.  Please feel free to reach out if you have any questions.