Type of Disease: Ultra-rare Mitochondrial Disease caused by an CARS2 mutation.
Current Age: 8 years old
Symptom Start/Age of Diagnosis: Symptoms started in infancy. At 6 years old Nixon was diagnosed with intellectual disability and epilepsy, progressed into progressive myoclonic epilepsy with uncontrolled seizures and loss of some mobility. Diagnosed with mitochondrial disease at 8 years old.
Current Symptoms: Progressive myoclonic epilepsy, ataxia (the presence of abnormal, uncoordinated movements), Dysphagia (difficulty swallowing) currently 50% tube fed.
Prognosis: Unknown, based on current but limited literature all cases are life limiting with progressive deterioration.
Interventions: He is followed by neurology, ophthalmology, physical and occupation therapy, social work and genetics specialist specific to mitochondrial disorders. Nixon will require ongoing medical care for support. Intensive interdisciplinary rehabilitation and adaptive equipment and modifications will be needed to address associated functional impairments.
Nixon came into our world earlier than expected. At 36 weeks we were induced due to discovering I had pre-eclampsia and that he had stopped growing at 32 weeks. As he grew we noticed that Nixon did not meet a lot of the milestones in his development, but we expected some delay due to the fact that he was a pre mature baby. Our physician's pre-prepared us with that detail and never raised any concerns during this time.
Fast forward, adding to what we were noticing, concerns from his team at his school were shared with us. He was showing signs that he was globally developmentally delayed and had also developed a slight tremor.
Pressing forward with our doctors, we requested to be seen by a neurologist. This doctor then suggested we get him assessed at a special needs resource centre. They discovered he had an intellectual disability; however, they couldn't help but think there was some further investigating that needed to be done medically. Shortly after things took a turn upon a path we couldn’t have anticipated. Nixon started having seizures. He was diagnosed with epilepsy and put on medication.
We were warned that the process to find the right medication and dosage was not going to be a quick and simple one. We positively held out hope that we would be able to eventually find the right medication to manage his epilepsy.
Nixon’s health then took a terrifying decline. Nixon suddenly started experiencing back-to-back seizures along with new symptoms that could not be controlled. Mediations were not working. Nixon was hospitalized again. This time the doctors started throwing around possible diagnosis of progressive myoclonic epilepsy, cause unknown, Idiopathic. They did more tests, EEG's, MRI's, blood work for the epilepsy panel along with first round of genetics testing. Which came back negative. He had everyone stumped. We were cautioned about him being at risk for SUDEP (Sudden unexpected death in epilepsy)
Shortly after another even worse decline with the seizures increasing significantly. His mobility and other symptoms getting even worse that we could see day by day. Again, Nixon was admitted to hospital to try and get him stabilized. During this time, we were getting genetic testing done in an attempt to see if there was an answer to his declining health in our genes. Nixon's team of doctors after two years of testing and seeing Nixon’s progression through serious changes had a devastating diagnosis. Nixon has a progressive neurodegenerative disease secondary to a mitochondrial disorder due to a CARS2 mutation. We learned in that short moment was it was an ultra-rare disease. Based on current but limited literature all cases are life limiting with progressive deterioration. There is no cure, there is no outline on what to expect.
Nixon has been the most courageous, adaptive super hero. His journey is going to be one that we are scared of, unsure of but 100% committed to giving our all to.