Infantile Spasms

These past 2 weeks have been eventful.  Mason got croup and pneumonia and had to spend an afternoon in the ER, Holland and I got ear infections, and Carly had a 104 degree fever for 2 days.  Having a child with croup means sleep is non-existent for the child and the parents. It's very hard. Mason still has a bad cough but at the worst of the croup he was waking up every hour at night with coughing attacks and throwing up. Monday this past week Mason finished his 10 day course of Amoxicillin for the pneumonia and I got to take him back to the doctor to get clearance for g-tube surgery again. His lungs were clear and he got clearance for the surgery! I scheduled the surgery for November 30th. However, The excitement was short lived.  The g-tube surgery is again postponed until January this time. Here's what has been happening:

About 2 months ago I noticed that Mason had a very exaggerated startle reflex. I kind of brushed it off and didn't worry too much because he was only 2 months old.  After a few weeks it seemed like he was startling more which worried me because I knew after 2 months the Moro (startle) reflex starts to disappear not get worse! I googled it and came upon infantile spasms. If you want a good description look here.His startles didn't really resemble infantile spasms in that they don't occur one after another, they're more random throughout the day.  For the past month I asked pretty much every specialist I've taken Mason to about it, and everyone made me feel at ease about them.  I decided to make an appointment with a different neurologist (Dr. Mitra) so I could get Mason checked out before our next scheduled neurology appointment in January. I made the appointment at the first of October for the soonest available appointment which was November 19th (this past Thursday).

Here's a video I took of the spasms.  Go to the end of the clip (0:50).  See how it just seems like a startle? Most of the time he doesn't cry like this when he has a seizure.

Here is a better video I found on YouTube of infantile spasms:

I met with Dr. Mitra on Carly's birthday.  Mason threw up in her office as she was examining him, sigh. He had about 10 spasms while she was examining him which is good because she got to see them not just hear about them. Our appointment was supposed to be 60 minutes long but after about 20 minutes she said that Mason is having infantile spasms and he needed to get admitted.  That hit me like a ton of bricks. I felt (still feel) guilty that I hadn't trusted my mom instinct more when I first started noticing them. There's always the hope that you're worrying too much about something and everything is just fine with your child.  She told me that I could go home and pack but then I needed to make my way over to Cleveland Clinic Children's as soon as possible.  I cried the whole way home. I honestly felt bitter that my little perfect baby has to suffer so much.  Casey left work and picked up Carly from school early so I could see her open her presents before I took Mason in to the hospital.  I felt so sad that all of this was happening on Carly's birthday, but thankfully Carly didn't seem one bit annoyed.

When I got to the hospital my sweet friend Jessica was waiting at admitting for me.  She didn't want me to be alone.  She is awesome. We hung out in the room and different doctors came and talked to me and examined Mason. They said they needed to hook him up to an EEG to see exactly what his brain is doing.  The EEG techs didn't come to hook Mason up to one until 2 AM! Everything at the hospital takes at least 3 hours longer than you expect :) The next morning we met with the attending neurologist and epilepsy specialist.  Both of them confirmed the worst.  Overnight Mason had around 50 seizures.  These seizures were coming from different parts of the brain which is even worse.  They said they wanted to start medication that day, and expedite genetic testing.  The geneticist came that afternoon and started going over all our history and our family history and drew out our pedigree chart.  Genetics is fascinating. They drew Mason's blood to send off for first round of testing. We'll get results in a few weeks. The hope is that the genetic testing will give us the information we need to know why Mason is having seizures (and his other symptoms).  Seizures are an indicator of an underlying issue, and we have yet to pinpoint that underlying issue.  The neurologists think all of this could be stemming from his traumatic birth and lack of oxygen right after birth.  If the genetic testing comes back inconclusive that could be the answer. We also found out that the Prader-Willi test came back negative which is a huge relief.

Hooked up to the EEG.  They glued the leads on his head.  It took about 2 hours for me to get all the glue out after they took them off.

Hanging out with the EKG on.  We got to stay on the very cool 5th floor Epilepsy Monitoring Ward at Cleveland Clinic Children's. Most kids are hooked up to an EEG, EKG, and Pulse Ox on this floor. They have cameras in the rooms (kind of freaky) and everything is wired so the kids can be constantly monitored but be able to move around and play (kind of).  

                                       

As for medications Mason started on two to treat seizures.  For the next month Mason has to get twice daily injections of ACTH (a steroid) that Casey and I will give him.  He also got started on Topamax which is a long term medication for seizures. Since starting his medications he has been really drowsy but instead of having hundreds of seizures a day he has had less than 20.

Mason also had spinal fluid taken today that will be tested along with the blood work for his genetics testing.  It looks like we're in a wait a few weeks and see holding pattern right now.  It's great to see his spasms reducing, and nice to have a direction in trying to understand why he's having seizures.  So we'll hold tight while the experts do their testing.

Thank you everyone for all your support and love.  It has kept us going.  We so appreciate all your calls, texts, facebook messages, prayers, and smiles!!