She began having "bicycling" movements that appeared to be seizures, ten minutes later NICU was called due to continued respiratory distress. Once in the NICU, Julia was put on a ventilator, lots of seizure medication and was hooked up to a EEG monitor. She also had an MRI, a Lumbar Puncture, CT Scan, and other tests while in NICU, all of these tests came back "normal". She was taken off of the ventilator and seizure medications at 5 days old. EEG monitoring was reviewed, none of which showed any epileptic activity. She was discharged on May 31, 2013 after spending 10 days in the NICU with no diagnosis except her left ear was deferred. Her neurologist didn't feel the need for a follow-up appointment due to "no seizure activity noted". June 4, 2013 - Julia's two-week checkup, she was diagnosed with "severe acid reflux" and was put on Prevacid. We went through several different formulas, but none seemed to work for her. When Julia was 2 months old I went back to work at SPEC (Burgaw). Her dad stayed home with her. August 20, 2013 - (3 months old), Julia had stopped eating for three days so I took her to her pediatrician. While in their office her pediatrician checked her vitals and noted that her o2 sats were concerningly low. She was taken by ambulance from her pediatrician (at North Chase) back to New Hanover hospital where she spent 3 days. August 23, 2013, Julia was airlifted to Chapel Hill from NHRMC where we spent the next seven days. In Chapel Hill she had another Lumbar Puncture, hours of EEG monitoring, along with other tests. Julia was discharged from Chapel Hill on August 31, 2013 with a diagnosis of "encephalopathy" and "seizure disorder". Her MRI she had in Chapel Hill also revealed "partial agenesis of the corpus callosum". We found this out when she was eleven months old when I got her medical records from Chapel Hill for ECU. Chapel Hill sent her home on Phenobarbital for her seizure disorder, they changed her Prevacid to Prilosec and started her on "Nutramigan" formula. At 3 1/2 months old she began occupational therapy and physical therapy. At 4 months old both ears passed the hearing test. At 6 months old Julia started attending the daycare where I worked. November 29, 2013 (6 months old), I took Julia to Pender Memorial ER where she was diagnosed with an Upper Respiratory Infection, Conjunctivitis (pink eye) and Otitis Media (ear infection). At 7 months old we had a follow-up neurologist appointment. I asked her neurologist if he would consider switching her phenobarbital to something that wouldn't cause her to sleep so much, he agreed and we began weaning the phenobarbital. December 30, 2013 (7 months old), 24 hour EEG; results - "Generalized slowing consistent with encephalopathy. Frequent discharge consistent with low thresholds for seizures and likely seizure disorder". January 4, 2014, (7.5 months old) NHRMC ER visit for seizure-like activity. ER Dr stated it was just withdrawal symptoms from the Phenobarbital. February 13, 2014 (8.5 months old), Julia was diagnosed with "near-sighted" by Dr. Johnson at Eye Associates of Wilmngton. March 3, 2014 (9 months old) - I took Julia to Pender Memorial ER where she was diagnosed with Gastroenteritis. March 17, 2014, (almost 10 months old) Julia had her first visit with the pediatric neurologist at ECU in Greenville. April 3, 2014 Julia had another MRI, 24 hour EEG, Chest x-ray and other tests at ECU. This MRI results showed "Abnormal myelination in the brainstem, diencephalon and probably optic radiations. Reduced white matter. Questionable cerebellar hypoplasia. Findings suggest a congenital metabolic or developmental disorder". The Chest x-ray showed "moderate hyperinflation". April 3, 2014, We had genetic testing done (the Chromosomal microarray test), the results revealed Julia has a duplication at 6p 22.2 (familial variant). April 4, 2014 Julia had her first Upper GI (baby version) and was diagnosed with GERD. May 2, 2014, (11 months old) Julia had the Nissen fundoplication & G-Tube surgery at Vidant in Greenville, she was discharged on May 5, 2014. I took medical leave to be with Julia after her Nissen/G-Tube surgery. There was too much to keep up with & Julia needed me full time. May 17, 2014, (four days shy of Julia's 1st birthday), we were getting ready for her birthday party around 10am when I noticed her top lip was blue, eyes deviated & she appeared to be having a seizure. Her heart was beating fast & she was gasping for air. I took her to Pender Memorial Hospital (5 minutes away. From Pender she was airlifted to Vidant in Greenville because there was "no pediatric neurologist at New Hanover" at the time. Julia was discharged on May 20, 2014, one day shy of her first birthday, with a diagnosis of "seizures". Three different doctors at Vidant told us that this was an albuterol overdose, yet it was nowhere on her discharge papers. May 24, 2014 (12 months old), Julia began using the "Smart Vest" for 15 minutes every day. June 23, 2014, (13 months old) Julia had a sleep study in Greenville. The results showed "Good sleep efficiency at 92%, adequate deep and reduced REM sleep percentages for age, AHI is 1.2 with minimal snore arousals, No PLMS are noted, O2 sat remained over 93% for most of the study with an episode of desaturation to 80 with no change in respirations but associated with rhythmic brain waves likely representing an electrographic seizure, CO2 remains around 50. Respiratory rate remained 50-60 throughout the study". "The respiratory rate was elevated throughout the study indicating some extra work of breathing to maintain ventilation". Her neurologist determined Julia would benefit from the Trilogy Ventilator machine. Her pulmonologist requested that Julia wear the Trilogy at least eight hours a day. July 3, 2014, (13.5 months old), Julia was prescribed Lorazepam (Ativan) for seizures lasting more than 5 minutes. August 26, 2014 (15 months old), the Trilogy Ventilator machine was delivered by her RT, she began using the Trilogy every night at bedtime after that. September 2, 2014 (15 months old), NHRMC ER visit for seizure-like symptoms. The ER Dr contacted Julia's neurologist & he increased her Keppra. September 11, 2014 (15.5 months old), Julia had another 24 hr. VEEG at NHRMC. September 23, 2014 Julia was put on Topamax for her seizures. The Topamax caused her "attacks" (that look like seizures) to come nightly. Her Lorazepam helps with her respirations during her attacks, but will not make the "attacks" stop. These don't show up on VEEG as seizures. Topamax was stopped on September 26, 2015, but her nightly attacks continued. We were scheduled to participate in a genetics research study program on August 21, 2015. I emailed our local genetics counselor a video of Julia during one of her nightly attacks, this was mid-October. She forwarded it to the genetics research study team at Duke & they agreed Julia needed to be seen "right away". That appointment was October 22, 2014 at Duke. While there, they drew blood from Julia for the Exome Sequencing Genetic Test & referred Julia to a pediatric epileptic doctor & a pediatric ophthalmologist. Julia saw the pediatric epileptic doctor on October 28, 2014. He scheduled an overnight VEEG for October 30-31, 2014 at Duke Children's Hospital. Julia went in for her 24-hour VEEG on October 30th & was discharged on October 31, 2014. The epileptic doctor put Julia back on Topamax. I told him about the nightly attacks, even showed him videos, & pictures of these attacks that started after she started taking the Topamax in the past. He said to just "give it time to get in her system good...". We came home October 31st, started the Topamax back Julia seized all weekend long. Early Monday morning November 3, 2014 (around 12:00am), I called an ambulance because Julia was blue and unresponsive. Her dad rushed her back to the room & put the Trilogy machine on her while we waited for the ambulance to arrive. Pender EMS came & took Julia to Pender Memorial. Pender intubated her (causing her left lung to collapse in the process) & started an IV. At 3:30am she was airlifted to NHRMC. Julia had another MRI ( #4), another Lumbar Puncture ( #3), another chest x-ray & lots of labs. This MRI showed "Interval development of the signal abnormality involving the dorsal brainstem, characterized by diffusion restriction & hyperintense t2 signal change with evidence of enlargement of the brainstem or abnormal enhancement on postcontrast views. Milder supratentorial periarterial white matter involvement is different considerations would include mitochondrial cytopathy or acute disseminated encephalomyelitis. An infiltrative neoplastic abnormality such as brainstem glioma would be considered unlikely for this appearance given the absence of an expansive component & the distribution of the signal abnormality". Lumbar Puncture - clear, no infections. Chest X-Ray - left lung reinflated on its own. While at NHRMC the dr told us he didn't understand how Julia was still alive because of how much her MRI images had changed & that there was "nothing more they could do for her". She was taken to Duke Childrens Hospital on Wednesday, November 5th, at 4:30pm. Another Lumbar Puncture ( #4) was done to check for "abnormal neuro transmitters", it came back normal. During our stay at Duke they also tried the seizure medication Onfi, after two days on Onfi, they took her off of it. MANY more tests were done while at Duke. Julia was discharged from Duke on Tuesday, November 18th. December 9, 2014, we learned Julia has "Cortical Blindness". December 12, 2014, Julia began receiving daily nursing care (56 hrs per week). December 16, 2014, another 24 hr VEEG at NHRMC. January 07, 2015, Julia was diagnosed with SCN8A genetic mutation by Dr. Shashi at the Duke Genetic Research Study Program.
