I am a Person with a disability, I am a Person with dreams, I am a Person that is much more than my disability.

I am XAVIER and this is my JOURNEY.

I was born a healthy baby boy, but soon after my birth my parents began to notice that I wasn't reaching certain developmental milestones. I was 8 months old and couldn't sit or crawl or steady my head at all. My dad decided that I needed to be evaluated and he contacted the North Carolina Developmental Evaluation Center for Jackson County located on the campus of Wester Carolina University in picturesque Cullowhee, NC.

We were introduced to the evaluation team which included, a developmental pediatrician, physical therapist, occupational, hearing, and speech pathology. They met with me and my parents for nearly two hours in order to get a complete and accurate pre-natal and neo-natal history. The team determined that I was severely delayed and recommended an immediate battery of testing to determine the cause of my delay. Fortunately, my paternal grandmother was a physician's assistance in the Neurosurgery Unit at the Children's Medical Center at the Medical College of Georgia. This meant that she was able to get me an appointment with a team of doctors quickly. The goal, find out what was causing me not to progress normally. The problem, only about 10% of developmental disabilities are diagnosed by a specific or known syndrome. This means that 90% of us are unable to put a label on what causes our delays.  I was treated by a neurologist, developmental pediatrician, and geneticist and given a battery of test in an attempt to find a diagnosis.  After extensive testing including: MRI, EEG, Genetic Testing, Vision & Hearing Screening, CBC, etc., it was determined that I was anatomically and genetically within normal limits or WNL.  The only thing that was the slightest bit abnormal was some slowing of the waves in the occipital region during my EEG.

So the story went for me...every time another test was performed the results always came back "normal".  The next few years were frustrating for me and my parents.  I was receiving weekly visits from my physical therapist, Sandy Davis.  She was awesome and hooked me up with a lot of great resources.  I was also under the care of Dr. Rosemary Boustany at Duke University.  While being seen by Dr. Boustany, I was tested for neurotransmitter disorders, but as usual everything was within normal limits.  Dr. Boustany recommended that I be seen by Dr. Cesar Santos at Wake Forest University-Baptist Medical Center.  Wake Forest was closer to our home and he was trained by Dr. Boustany so she felt he could track my progress and keep us informed about any new tests or procedures that may come available that could aid in the diagnosis of my condition.  At this point, the doctor's could only state that they were sure I had a mitochondrial disorder.

It also happened that around the time when I was two, my parents started noticing that several times per month I would display odd staring and jerking spells.  Concerned, my parents contacted my neurologist and he scheduled an appointment for us.  By the time our appointment had arrived, I was having several of these episodes per week and my dad was able to capture some of them on his phone using the video camera.  My parents showed the videos to Dr. Santos during our appointment and he confirmed that what he was seeing and hearing us describe were seizures, and he got us admitted to the Epilepsy Monitoring Unit (EMU) for evaluation.  This was ground breaking for my family since it was the first time that they had been told a specific disease that correlated to my unusual development.  It wasn't that epilepsy caused my delays, it was just something that my parents could research and study and understand as they attempted to grasp what was going on with me.  It was also the first time that I'd been hospitalized for testing and not some acute illness as it had been in the past 4-5 times I'd been hospitalized.

I was admitted to the EMU and had my head connected to all the electrodes and got set up in the room for 24 hour video monitoring.  We were told to expect to be there for 3-5 days depending on my seizure activity.  Well, those of us with epilepsy know that it doesn't often cooperate with plans and Murphy's Law usually wins out.  No difference this time...I went 5 days with no seizure only to be discharged and have a 3 minute seizure in the lobby of the hospital!  It wasn't a total loss because the doctors were able to collect a lot EEG data and determined that I had very abnormal EEG patterns.  I was prescribed anti-epileptic drugs (AED's) and my parents were told to track my episodes and keep the doctor informed if anything changed or the seizures lasted more that 5 minutes.  My first AED was Trileptal, and within a few weeks my seizures changed from complex partial seizures to myoclonic seizures.  We were informed that sometimes Trileptal can cause that to happen.  Trileptal was discontinued and I was started on Zonegran.  Things were going well on this new medication and my seizures were reduced to 2-3 episodes per month but things went downhill again, and Dr Santos scheduled another EMU hospitalization, but this time they were going titrate me off of my medications to increase the chance that I had a seizure while being monitored.  Finally, the treatment team captured an event on EEG and video.  But as usual with anything with me, the department head stated, "I've never seen a seizure like that