A Down Syndrome diagnosis can sometimes come with an increased risk of other more rare disorders. One of these is Infantile Spasms.
Though this disorder is very rare, there is an increased risk of infantile spasms in babies with Down Syndrome. What better way to understand this disorder than to hear directly from a parent who has been there?
Dashel, who has Down Syndrome, has always been a happy baby and loves to smile. On April 8th, when he was four months old I noticed something wasn’t quite right, he wasn’t smiling hardly at all that whole week, he slept a lot more and just didn’t seem himself when I looked at him. I also noticed that when I was trying to give him his bottle he seemed unusually cranky and fussy and in the middle of trying to get him to calm down and take his bottle his arms and legs seemed to quickly jolt forwards and his eyes rolled back. It only lasted maybe 2 seconds but after it passed he would cry, a cry I had never heard before. I knew something wasn’t right and called his pediatrician to get him in the next day. A few hours would pass and he would have the infantile spasm, sometimes more than one, like a cluster.
When I took him to the pediatrician’s office he wasn’t having the spams at that time, but I had taken two videos on my phone the day before and was able to show the Dr. She seemed concerned and told me she wanted to talk to a neurologist to see what they thought. A few hours after I got home I received a call from the Dr. herself that the neurologist at Cook’s Children’s Hospital in Fort Worth wanted me to bring Dashel down to the emergency room as soon as possible. My husband left work immediately and my older son was picked up by my mother in law. We got to the ER and when we got to see one of their doctors we told them everything and showed them the video. They immediately did bloodwork and ordered a CT scan. They also got a urine sample via catheter and did a spinal tap for fluid testing. We hated seeing him go through all of this but knew we had to figure out what was going on. They told us that we would have to be admitted until they had the results for the spinal fluid, maybe 1 to 2 days.
The next morning after we were admitted to a room upstairs, the neurologist, came in and said he reviewed Dashel’s chart that morning and wanted to do a 24 hour EEG with video monitoring to see what else could be going on, he also said he thought it could be seizures and that the EEG would confirm this. During the EEG, we had a button that we had to push every time Dashel had the spasms to mark when he had them on the video as well as the EEG monitor, which by this time had increased in cluster and were lasting a little longer than before. After the 24 hours were up and he was removed from the EEG, the Dr came in and explained that Dashel was having Infantile Spasms, which he also called seizures. He explained that it was something not very common but was however more common in children with Down Syndrome.
His treatment plan was putting Dashel on a series of injections called ACTH or the Acthar Gel. Dr. Kelfer said that he felt this would help, but that Dashel could go on to have other types of seizures or possibly none at all. We would have to administer the injections at home everyday for six weeks. Dashel was prescribed a lidocaine cream to place on the injection site before the injection. The needle gauge had to be a little bigger because the medication was a little thick in consistency, so the cream helped with numbing the injection site. The nurse came in and walked us through the whole process and was very helpful. I had to do the first injection while we were at the hospital and it was honestly a little scary to inject our four month old with a medication but we got through it. The only side effects he had from the ACTH injections was an increased appetite and swollen cheeks which were both normal.
During the treatment we had two more EEGs done, one after 3 weeks of starting the treatment and one after the treatment was complete. The last EEG after his treatment was complete showed no seizure activity! We were so grateful and relieved to have such great results. The neurology team at Cooks took great care of Dashel. He hasn’t shown anymore signs of the infantile spasms since his third day of treatment.
Hopefully this is one of the last ones we will ever see: https://youtu.be/_SU4lmoQSqs
If you ever see your child do something that you don’t feel is right, follow your instinct. If they don’t seem like themselves have them checked out with their doctor, they may not be able to tell you what’s wrong and its better to be sure. Dashel’s Dr. said that the best thing we did was to get him checked out quickly.
I’m Lindsey, mother of two boys, Elijah who is 4 and Dashel who is 1 with Down Syndrome, and wife to Greg and we have been married almost 7 years now. We live in Keller, Texas. I am a stay at home mom. We love doing family things and taking trips to Disney. We love being apart of The Lucky Few! Find Lindsey on Instagram @mrs_gjc