Epilepsy Families: Noah's Journey (pt. 1)

The family we are talking about this week is near and dear to our hearts. They just endured watching their son have a lobectomy as well. The difference? Noah is THREE.

Mallory, Noah's mom, had a difficult time condensing his super long story down to one post. I assured her that that makes TOTAL sense, and that it's 100% okay. In his short lifetime, Noah has been through so much. But I can promise you, this journey has a happy ending... or is it happy new beginning?

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My son, Noah, was born May 19, 2011.  Noah started having infantile spams at 10 weeks old.  However, we didn't know that’s what they were.  I just remember holding him or watching him play on the floor and then all of a sudden start twitching uncontrollably for what seemed like forever, but in reality it was more like a minute or two. 

 Just to give a little background, I had the absolute perfect pregnancy with no complications.  He was born 38w6d via emergency c-section only because I was in the beginning stages of labor, he had been complete breech the entire pregnancy, and the OB/GYN thought my amniotic fluid was infected because I wasn't feeling well that day at all.  My fluid was infected, but Noah was perfectly healthy and had no complications.

Fast-Forward: When I explained these “twitches” over the phone to my pediatrician at the time, at Ochsner Medical Center in New Orleans, she thought it sounded like when someone is just about to fall asleep and they bob their head and jerk it back.  At the time that seemed feasible to me, so I went with it.  The longer this continued the more I knew that this wasn’t right.  He was having these “jerks” anywhere from 10-20+ more a day, and each “jerking” session had at least 30-100+ “jerks.”  

At around 4 months old my husband and I took our son in to the pediatrician because he was having bad gas problems.  Coincidentally, Noah had one of his “twitches” in front of her and she immediately looked at us and said, “Is this what he’s been doing?”  We replied, “Yes.”  She then left the room, came back, and said, “I believe your son may be having seizures.  I’d like for him to go upstairs to get an EEG done right now, as well as blood work, and a urine collection.”  My husband and I were in complete shock.  Never in our minds did we think our son was having seizures; that seemed impossible.  Nonetheless, we went upstairs and Noah had his first EEG.  The EEG came back with abnormal results, blood & urine work came back normal.  We were then referred to a neurologist & genetic doctor.  Noah was sent home on a prescription for a steroid, Prednisone. Noah took Prednisone from September 2011 until December 2011.  Once Noah was weaned off Prednisone he started Phenobarbital; they actually started weaning him off the Prednisone while slowly adding the Phenobarbital in December 2011.  He had also undergone an MRI to check for any abnormalities in the brain; results came back “normal.”  

By January 2012, Noah was only on Phenobarbital and we thought it was the miracle drug.  Noah stopped

having his infantile spasms and was seizure free from January 2012-May 2012.  Just after Noah’s first birthday, the seizures started to come back; and these seizures were stronger than ever.  By this time, Noah had been in the Early Childhood Intervention (ECI) program for his learning delays.  He started ECI at 5 months old.  Noah did absolutely nothing, but sleep.  He had stopped rolling over, he didn't smile, he didn't laugh, and he didn't engage with anyone.  Noah was seeing a speech pathologist (who worked on feeding as well), a physical therapist, and occupational therapist, and a specialty instructor who helped with pretend play.  

We saw the genetic doctor to rule out any other abnormality.  The genetic doctor did all of his tests; they all came back normal.  However, the genetic doctor felt he had “secondary mitochondrial disease.”  Oddly enough, we found out that this was his “go-to” diagnosis when he couldn’t give the parents an exact diagnosis.  This genetic doctor couldn’t even tell us what it was secondary too.    Of course we wanted a second opinion and we were just in luck.  My husband had accepted a job in Houston where we were then able to take our son to the #4 ranked hospital nationally, Texas Children’s Hospital.

Finally, we moved to Houston.  Noah went to his first neurologist appointment in Houston in the Epilepsy Clinic at Texas Children’s Hospital in November 2012.  First of all, this hospital is absolutely amazing and everyone is super friendly; I highly recommend them if you’re able to go there.  This is when we were actually told for the first time that Noah had a “seizure disorder” called Epilepsy.  Before now, the doctors in New Orleans just referred to it as infantile spasms; wow was that a bit of a shock to the system, especially when the Houston neurologist said that it was already in Noah’s charts as Epilepsy. We then started discussing everything that had been going on.  As soon as our Houston neurologist heard Noah was taking Phenobarbital the first thing he said is, “We are going to wean him off that ASAP.”  Of course my husband and I were thrown off by this and we asked them why.  Noah’s neurologist explained that Phenobarbital is one of the first medications on record to treat Epilepsy and it’s proven that Phenobarbital causes learning delays on top of other complications. So our neurologist added Trilepital with Noah’s Phenobarbital.  Noah also had two additional EEG’s at this time, an MRI, and blood work.  Both of Noah’s EEG’s came back abnormal, and then his MRI and blood work came back normal.  Noah started his wean off of Phenobarbital in December 2012 and was completely off of it by January 2013. 

Between January 2013 and May 2013 we basically monitored Noah and his seizures.  I have kept a chart since he was about 5 months old where I tallied each seizure, AM or PM, what it looked like, what he was doing, how long it lasted, etc.  I take these charts, which I still use today, to each appointment to be analyzed with Noah’s neurologist.  Almost immediately after Noah was completely weaned off the Phenobarbital he started learning and doing things he had never done before; it was like night and day.  We were happy that he was picking up on things and we loved the new change in Noah.

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Thank you, Mallory for part one of this story!! 

Please join us, as we look forward to part two, on Wednesday!