Greyson

Meet Greyson (Grey) from Denver, CO who just turned 1!  She loves her doggies, playing outside, and when her daddy makes goofy noises.  Though she has always been a fairly serious little lady, she lights up, sometimes with a rare giggle, when she sees her fluffy dogs playing.  She loves to climb all over them and is rewarded with many doggie kisses!  Greyson was diagnosed with myoclonic epilepsy at 6 months and interstitial dup15q syndrome at 9 months. 

When Greyson was around 6 months old, we noticed odd arm movements and she was occasionally dropping her head while being held.  She happened to have an episode when we were at the pediatrician for her 6 month checkup.  Our pediatrician thought it could be Sandifers, which is a reflux disorder and started her on Zantac.  He also ordered an EEG just to be safe.  We didn’t see any of the episodes after starting the Zantac and went into the EEG thinking we were in the clear.  To our dismay, they saw frequent seizures throughout that were too fast for us to even notice them.  They diagnosed her with myoclonic epilepsy and started her on Keppra, which didn’t work and in fact the seizures got worse over the following couple months.  The seizures started to get more intense and cluster when she was fatigued, primarily before bed but sometimes during the day.  The clusters would last for about 20 minutes – with the seizures/spasms being more intense at the beginning and subsiding toward the end.  They continued to increase her dosage, but the seizures persisted and she became increasingly zoned out and uninterested in interacting with us.  We had an EMU at the end of July and they identified that her seizures were at risk for transforming into infantile spasms and started her on Topomax.  They classified the clustered seizures she was having as epileptic spasms.  None of her EEGs have shown hypsarrhythmia in the background.  She really started to light up and start moving forward developmentally once she started the Topomax and early intervention physical therapy.  

About a month later, when Grey was 9 months, we received the results from the genetic study stating that she has Dup15q, which we recently confirmed is interstitial.  We have continued weekly early intervention PT visits and see an OT once a month.  She started crawling about two months ago and it’s hilarious to watch her switch into “high speed” when she sees something across the room that she wants to get to.   Our doctor has recommended that she has an EEG or EMU every 2-3 months to make sure we catch the spasms should they occur.  So far, her seizures have been infrequent/under control.

After receiving the diagnosis we combed through the abundant resources on the Dup15q Alliance website and learned about the clinics.  We traveled to PA to attend the clinic day at Geisinger in October.  We are grateful for our doctors at Children’s Colorado, but it really made a difference to speak with doctors that have extensive experience with Dup15q patients.  We met with their Genetic Counselor, Neurologist, and Neurodevelopmental Pediatrician, all of whom were very caring, insightful, and supportive.  We plan to take Grey once a year for evaluation.  We live in Denver, but Geisinger is near Grey’s grandparents so we’ll make a family trip out of it!     

Although Greyson is behind developmentally and too young to determine some other conditions, we are all encouraged by her progress!  We love watching her learn new things everyday as she explores her world more and more.  And, wow was she a pro at diving into her first birthday cake…the hot pink icing was EVERYWHERE!

~ Greyson’s parents, Lauren and Chad